The patient was a 47-year-old woman with a history of chronic renal failure secondary to right nephrectomy due to a renal cell carcinoma and left kidney hypoplasia. She had been included in a haemodialysis programme from July 1998 to February 2003. At that time, she received a kidney transplant from a deceased donor. She had had an internal arteriovenous fistula for vascular access since August 1998. No significant complications deriving from fistula completion were observed. Renal function after transplantation was stable, with creatinine levels ranging from 70.72 to 79.56 μmol/L (0.8–0.9 mg/dL). Immunosuppressive maintenance therapy included the administration of cyclosporine A and mycophenolic acid.
During a routine checkup in June 2011, she reported nail-bed splinter lesions in the homolateral fistula arm, with no other symptoms. A biopsy of these lesions revealed haematic extravasation with no signs of vasculitis or embolic phenomena.
Some weeks later, she presented complaining of distal pain in the fistula, a lack of functionality and retraction of the hand and of the third, fourth and fifth fingers. In August 2011, she underwent a magnetic resonance imaging of the limb, where periarticular inflammatory changes, periarticular haematic collections and an unidentified ischaemic injury aspect were noted. An electromyographic study showed the involvement of the median and ulnar nerves at the elbow level, probably due to a thrombotic or aneurysmal fistula complication.
In September 2011, she presented complaining of an increase in pain and further digital retraction. She also had asthenia, dyspnoea while performing normal activities and fever. The analytical results revealed severe anaemia [a haemoglobin level of 0.77 mmol/L (5.2 g/dL)] and positive citomegalovirus polymerase chain reaction. There were no significant findings in the chest X-ray. Digestive endoscopy was normal. Accordingly, treatment with valganciclovir was started.
During patient admission, the fistula was removed. Two old thrombosed veins and old thrombi were found in the brachial artery. During pathological examination, an angiosarcoma of uncertain malignancy grade was found ( and ).
Additional computed tomography also revealed images compatible with bone and lung metastases.
The patient was treated with chemotherapy (paclitaxel), but died 2 months after diagnosis due to oncologic complications.


A 37-year-old obese Hispanic male came to the emergency room (ER) with a 4 weeks history of nonradiating, dull lower back pain. No other symptoms were noted. He denied any history of recent trauma. He had been in a motor vehicle accident many years prior, which had led to multiple episodes of urinary tract infections (UTIs) due to urethral strictures; the most recent UTI 1 month prior was due to Enterococcus fecalis. Urethral dilatation by cystoscopy and a course of amoxicillin-clavulanic acid was provided for treatment. Physical examination revealed elevated erythrocyte sedimentation rate (ESR) of 92 and C-reactive protein (CRP) 35.9. Computed tomography (CT) lumbar spine revealed new destructive changes within the endplates of paralleling L2-L3 levels with apparent surrounding inflammatory changes highly suspicious for osteomyelitis/discitis. The patient was admitted and started empirically on vancomcyin and piperacillin-tazobactam by the primary admitting team. Infectious disease consultation recommended bone culture and pathology, which was subsequently obtained by interventional radiology early in hospital course. Bone specimen culture revealed a catalase negative gram positive cocci growing in pairs and clusters. Because of its unusual growth pattern, further biochemical analysis was done and showed the organism to be positive for hippurate hydrolysis, indentifying it as belonging to the Aerococcus genus. Antibiotic susceptibility revealed the organism to be penicillin-sensitive but resistant to trimethoprim-sulfamethoxazole, identifying the species as A. urinae. The patient was switched to cefazolin and was treated for 6 weeks. The patient showed clinical improvement in terms of his back pain with proper analgesia.


An 18-year-old female patient reported to our department with the complaint of poor esthetic appearance due to missing upper and lower front teeth since 4 years and seeking prosthetic treatment. Patient gave no history of trauma and extractions in relation with the missing teeth. The patient reported that the teeth exfoliated due to loosening. The patient's medical history was not contributory. Family history revealed no such abnormality among other family members.
On intraoral examination [] the morphologic appearance and color of the permanent teeth were normal. In maxillary arch, the missing teeth were from right canine region to left canine region and in mandibular arch, all the incisors were missing. There was generalized grade II and grade III mobility. Oral hygiene was poor and there were plaque and calculus deposits in all the quadrants. Restorations were present in left maxillary first molar and mandibular second molar.
Panoramic radiograph [] revealed adequate enamel thickness on the cuspal tips of all the teeth. There was no root formation in most of the teeth while some of the teeth exhibited short, blunted and malformed roots of only a few millimeters with obliterated pulp chambers. The mandibular first left molar tooth had taurodontism like appearance. Well-defined periapical radiolucencies were present in association with the apex of the mandibular left first molar and right first and second molar.
Although the patient had attained her physical maturity and was ready for definitive dental treatment but her physical, financial and psychological situations were important to be considered in selecting the final treatment plan. The following treatment plan was formulated for the patient. Dietary and oral hygiene instructions were given to the patient and extraction of the teeth that were mobile was advised along with the rehabilitation of the missing teeth with prosthesis.
The right maxillary first molar tooth was extracted and sent to Department of Oral Pathology and Microbiology. Clinical examination of the gross specimen [] revealed an intact tooth. The tooth crown was of normal dimensions measuring around 7.5 mm but the roots were short and measured about 6 mm. The specimen was sectioned mesiodistally into halves. The mesiodistally cut tooth surface showed total obliteration of pulp chambers with dentin. One half of the cut tooth specimen was decalcified in 10% nitric acid and processed for hematoxylin-eosin (H and E) staining. Other half of the cut tooth specimen was used for preparing ground section.
The ground section [Figure and ] showed normal crown outline with normal enamel covering. A thin layer of superficial mantle dentin appeared but the pulp chamber was totally obliterated by an unusual calcified material consisting of atypical tubular dentin and osteodentin covered by thin discontinuous layer of cementum. Normal dentinal tubule formation appeared to have been blocked and the new dentin so formed around obstacle, gave rise to the characteristic appearance of “lava flow around the boulder” [].
Histopathologic examination of the decalcified hematoxylin-eosin section [] showed total obliteration of pulp that was filled with tubular dentin, osteodentin and irregular, globular masses of dentin [Figure and ]. A cluster of odontoblasts was seen within the globular masses of dentin.
Based on the clinical, radiographic, gross features and histological examination of the ground section and decalcified section, diagnosis of dentin dysplasia type I was made.


A 18-year-old male presented to a private hospital with a chief complaint of painless slow-growing swelling since 10 years in the right side of the lower jaw. There was no significant medical history. On examination, face was asymmetric due to swelling at the angle of mandible. It was a solitary swelling, well-localized, measuring 4 × 3 cm at the angle of mandible. On palpation it was nontender and hard. It projected from lower border of mandible, measuring anteroposteriorly 4 cm and superoinferiorly 3 cm, buccolingual expansion was 3 cm with a broad base. Orthopantomogram showed mixed radiolucent and radiopaque lesion in the angle of the mandible []. Computed tomography (CT) showed an irregular bony outgrowth at angle of mandible, measuring 27 × 25 × 22 mm in size, with a small irregular area of sclerosis. There were no cystic or destructive changes identified and no adjacent extraosseous soft tissue swelling or fluid collection seen []. The three-dimensional CT showed margin of the lesion to be continuous with the margins of the mandible []. Radiological diagnosis of benign OC was made. Under general anesthesia, through extraoral approach, the lesion at the angle of mandible was exposed []. The lesion had a broad base and an irregular surface, excision of the lesion was done along with a margin of normal bone all around. Bony margin were smoothened and closed in layers. Pressure dressing was placed. Postoperative wound healing was uneventful. Histology revealed features of OC: Cancellous bone proliferation and a cartilaginous cap []. There was a hyaline cartilage with cellular connective tissue stroma []. Marrow spaces were filled with chondroid tissue, producing trabecular ossification [].


A 11-year-old female presented with a painless large diffuse swelling on the lower right side of the face involving the inferior border of the mandible that had been present for past 2 years. The swelling extended superoinferiorly from 1cm below the ala-tragus line to 1 cm below the lower border of the mandible and anteroposteriorly 2 cm short of the angle of the mandible to angle of the mouth. The margins of the swelling were ill-defined. The tumor was hard and elastic and had a smooth surface []. Intraoral examination revealed obliteration of the lower buccal vestibule in relation to permanent mandibular right canine, extending up to retromolar pad area with no other significant findings.
MRI revealed approximately 50 × 28 × 25 mm altered signal lesion seen on the right side of the mandible with involvement of alveolar surface. The lesion was heterogeneously hyperintense on T2 and hypointense on T1 with small fatty component and cystic focus []. There was no fat plane with adjacent tongue suggesting its involvement. The right sub mandibular gland was abutted. No significant flow voids were noted. Computed tomography (CT) scan showed well defined lobulated heterogenous mass in the right submandibular region extending into ipsilateral sublingual space. Erosion of cortex was also noted.
Wide surgical excision of the tumor was done ensuring safe margins and the patient has been free of any recurrences or metastasis for over a year. Grossly, the lesion removed measured 6 × 4 × 4.5 cm. The lesion was well-circumscribed with yellowish tan in appearance with soft lipid like regions. The lesion was soft and rubbery in consistency. Microscopically, the tumor was well circumscribed and exhibited a lobular growth pattern with prominent HPC like areas admixed with mature adipocytes []. However, no lipoblasts were seen. The HPC regions showed characteristic branched stag-horn vessels, which are lined by flattened endothelial cells. The intervascular spaces were occupied by monomorphous plump spindle cells which had round to oval nuclei with scant to moderate cytoplasm, the cell borders were indistinct []. There was no significant pleomorphism or mitotic activity. Variable amount of collagen deposition was seen.
Immunohistochemical staining demonstrated that the neoplastic cells were strongly positive for reticulin [] and negative for CD 99 [], Bcl-2 [], S-100 [], Pancytokeratin [], Desmin [], CD34 [] and smooth muscle actin (SMA) []. However, CD34 showed positivity in endothelial cells whereas SMA showed positivity in vessel walls. The fat-containing cells exhibited positive staining for S-100.


A 55-year-old male patient reported with a chief complaint of pain and swelling on gums at upper front region of the jaw since last 2 years, and swelling was gradually increasing in size, which caused masticatory problems on chewing foods and esthetic deformities because due to large size lips was not closed properly [].
On clinical examination, a localized gingival swelling of 3 cm × 3 cm present in relation to the facial aspect of upper anterior region with moderate supra and subgingival calculus. Lesion was solitary red, exophytic and pedunculated with a broad base, which was hemorrhagic with bleeding on probing the area [].
Medical history was no contributory and orthopantomograph showed severe alveolar bone loss in affected areas []. Based on above features, a provisional diagnosis of PG was made.
In the treatment, oral prophylaxis was done. Thereafter, it was decided to further treat the lesion with a surgical approach. After local anesthesia, the enlarged localized lesion was excised up to the base of the lesion, and It was ensured the that lesion was completely excised by trimming up the remnants of the soft tissue adjacent to the tooth to prevent recurrence of the lesion. The excised tissue was sent for histopathological examination, which showed connective tissue was loose fibrillar and comprised of numerous proliferative capillaries with dense mixed inflammatory infiltrate []. The histopathological examination confirmed diagnosis of PG.


An 18-year-old female reported to our institute with a chief complaint of multiple missing teeth since childhood and failure of eruption of permanent teeth. The patient gave no history of any trauma or extractions. On clinical examination, the patient showed features like small built with normal intelligence, brachycephalic skull, frontal bossing, maxillary hypoplasia resulting in a prognathic appearance, ocular hypertelorism, and depressed nasal bridge. She had abnormal mobility of her shoulders toward the midline. On intra oral examination, patient had a narrow high arched palate, multiple missing permanent teeth and over-retained deciduous teeth.
Orthopantomographs were taken which showed multiple impacted teeth and diagnosis of CCD was made.
Cone-beam computed tomography examination was performed and its features were compared with OPG to study findings not clearly identified on OPG.
At some areas, the position and location of impacted teeth which were difficult to interpret on OPG could be easily identified through CBCT examination [Figure and ]. The finding of the position and location of the impacted teeth is vital for oral surgeons for any kind of surgical treatment required which makes CBCT examination an important step in such patients Since there are multiple impacted teeth, their relation with the inferior alveolar canal needs to be accurately analyzed before commencing any surgical treatment. OPG being 2D has this disadvantage compared to CBCT that proper nerve positioning and its relation with the tooth cannot be judged perfectly [Figure and ], which makes CBCT examination mandatory In the same patient, OPG showed a radiopaque structure distal to 48 and it was difficult to make out whether it was a developing tooth or an odontome. When CBCT examination was done, the doubt was cleared as root canal within the radiopaque structure was easily visible confirming it as a developing tooth [Figure and ].


A 17-year-old male reported with the chief complaint of multiple missing teeth since childhood and failure of eruption of several permanent teeth. The patient had a younger brother who showed similar features. On clinical examination, features similar to the above case, conducive of a diagnosis of CCD were seen which was confirmed on OPG showing multiple impacted teeth. CBCT examination was performed and its features were compared with OPG similar to case 1.
In cases of CCD, due to multiple impacted teeth and some teeth being outside the focal trough, their exact size and morphology are distorted due to image magnification. This disadvantage can be overcome with CBCT examination [Figure and ] It is important to determine the proximity of tooth to vital structures like floor of maxillary sinus prior to any surgical procedure. CBCT can overcome the disadvantage of 2D imaging where in the exact proximity cannot be determined easily [Figure and ].


A 16-year-old male reported with complaint of multiple missing teeth similar to above cases. His shoulders were approximating to midline and OPG showed multiple missing teeth. Other features of CCD were also seen so again CBCT examination was performed and features compared with OPG.
Due to the ability to view the CBCT scans in sections as thin as 0.4 mm, small structures such as over-retained root pieces of deciduous teeth which are missed on OPG can be easily seen on CBCT [Figure and ] The exact morphology of deciduous teeth being resorbed due to eruption of permanent teeth can be studied well on CBCT [Figure -].


A 32-year-old female patient with chronic renal failure due to secondary hypertensive nephrosclerosis and a history of renal transplantation from a cadaver 4 months ago after 7 years of peritoneal dialysis and 4 years of haemodialysis was reported. Most patients with genetic hemochromatosis have mutations of the HFE gene and excess amount of ferrum in blood. She had been receiving desferrioxamine treatment for the last year. The patient had been treated with antithymocyte globulin, tacrolimus, mycophenolate mofetil and corticosteroid for immune suppression and trimetoprim sulfamethoxazole and acyclovir for prophylaxis. The patient was currently receiving tacrolimus, mycophenolate mofetil and corticosteroid treatment. In the post transplantation period, a urinary infection was detected in patient and treated successfully with piperacillin and imipenem. After transplantation, the patient was discharged with a serum creatinine level of 0.7 mg/dL. The patient arrived to our clinic with a complaint of ulcerative nodular lesion which is 2 × 2 cm in size located at fronto-superior right-knee area ().
The pathological examination of biopsy taken from the lateral border of ulcerative lesion revealed that it had pseudoepithelial hyperplasia, polymorph plasma cells, inflammation areas with histiocytes and hypha like constractions among inflammatory cells (). Coagulase negative staphylococci were assessed in specimen cultures. In mycological Sabouraud dextrose agar (Himedia, India) cultures, greenish-brownish grey colonies with black punctations on the middle mold colonies with a loose structure grew within 3 - 4 days. The colonies evaluated to have fulfilling the whole plaque, brown-greenish grey in color, black punctuations on the middle loose hypha structure (). In micromorphological evaluation, hypha structure had compartments. At the distal ends of the structures, colorful macroconidia with dark brown colors, cylindrical, branching or breeding, horizontal or vertical comportments are detected (). With these evaluations, the agent was thought to be Alternaria spp. The patient received 200 mg × 2/day itraconazole as treatment together with reduction in mycophenolate mofetil intake to 360 mg/day. Serum tacrolimus level inspected during antifungal treatment and reduced during itraconazole treatment. The macroscopic healing of the lesion was observed in the first two weeks and surgical nodulectomy performed in one month. The healing of lesion followed periodically and no recurrent or new lesion occurred.


A 55-year-old lady with crusted plaques over head, neck and trunk since 3 months was brought to the hospital by her relatives. She was an illiterate housewife belonging to the lower socioeconomic class. There was history of avoidance of cleansing and domestic squalor. The onset of neglect coincided with the awareness of a lump in her right breast. She had refused to seek help. On examination the patient was withdrawn and reluctant to cooperate for examination. There were adherent crusts over scalp, large dark brown confluent thick crusts forming a “mask” resembling a carapace over face and ears sparing the perioral area [Figure and ]. Dark brown dirt like papules were found on neck, lower back, intermammary and inframammary area. There was poor oral hygiene and halitosis.A 6 × 8cm solitary, firm, non-tender, mobile mass was present in her right breast []. The overlying skin was stretched with engorged veins.
Complete blood counts, fasting blood sugar, liver and renal function tests were within normal limits. A skin biopsy revealed hyperkeratosis, increase in basal pigmentation and focal vacuolar changes []. PAS stain showed few budding fungal yeast forms in the stratum corneum [].
Right breast lumpectomy specimen had a biphasic pattern composed of glands and cellular stroma on histopathological examination. The glands showed leaf-like projections due to underlying proliferation of cellular spindle-shaped stromal cells. There was no evidence of malignancy. A diagnosis of benign phyllodes tumor of the breast was made. Crusts were removed with saline compresses [Figures and ]. The patient was referred to the psychiatrist where she underwent counseling. Three months after removal of the lump the patient returned for follow up with a clean face and renewed interest in social activities.


A 42-year-old female patient received inpatient treatment for acute pyelonephritis in 2003. In 2009, she was diagnosed with gastroesophageal reflux disease and began taking prescription medication for that condition. During a regular follow-up examination, a chest X-ray revealed a mass lesion in a portion of the left lower lung field. Chest computed tomography was then performed, and the patient was suspected of having a neurogenic tumor or bronchial cyst in the left posterior mediastinum (). The patient was then admitted for surgical diagnosis and treatment.
At the time of admission, laboratory tests showed no remarkable findings. Thoracoscopic resection of a portion of the posterior mediastinal mass was performed under general anesthesia in the right lateral decubitus position under single lung ventilation on the right side. The lesion was a sessile cyst-like mass fixed to the posterior mediastinum. During dissection, the cyst wall was opened and a milky-white leaking fluid was observed. No serious adhesion to the surrounding tissue was found, and the lesion seemed benign during intraoperative observation. The operation was finished after a pathology report on the resected lesion was requested. The pathology report indicated that the lesion was composed of interconnected and dilated lymphatic spaces, lined by a single attenuated layer of endothelial cells ().
Post-surgical thoracic drainage remained high, with 420 mL of drainage on the first postoperative day. On the second day, 110 mL of the milky pleural fluid was drained. Laboratory examination of the pleural fluid revealed that the fluid was chylothorax, containing 842 mg/dL of triglycerides and 75 mg/dL of total cholesterol. Thereafter, conservative treatment was started, combining fasting and total parenteral nutrition. However, after one week of conservative treatment, the chylothorax continued to leak. More than 900 mL of pleural effusion was drained daily. The resected mediastinal mass was confirmed to be a cystic lymphangioma in the final pathology report. Considering the clinical presentation of chylothorax after the operation and the pathologic confirmation of the resected mediastinal mass, the mediastinal mass was diagnosed as a thoracic duct cyst. Seven days after the initial operation, the patient underwent reoperation to ligate the thoracic duct by video-assisted thoracoscopic surgery and talc pleurodesis under general anesthesia (). The patient ingested 200 mL of olive oil to identify the thoracic duct leaks before reoperation. After reoperation, normal meals were administered, and no chyle drainage was observed. The patient was discharged seven days after the reoperation.


A 50-year-old Japanese woman was referred to us for evaluation of her facial eruption. The patient had had three episodes of the eruption during the past year. In each episode, itchy, indurated erythema occurred diffusely on the face and neck, lasted for 2 weeks and spontaneously subsided without sequelae. On the fourth episode, we observed an erythematous eruption with swollen palpebrae and cheeks (fig. ), which extended to the neck and earlobes (fig. ). Epidermal changes, including scale and papules, were minimal. Repeated inquiries did not give any possible contactants. Upon pregnancy, she was diagnosed as an HTLV-1 carrier. Her mother was also HTLV-1-positive. Leukocyte counts were normal without atypical lymphocytes, and the serum levels of lactate dehydrogenase and calcium were normal. C3, C4 and C1-INH were normal, negating the possibility of acquired angioedema associated with lymphoproliferative disorders []. By flow cytometry of the patient's peripheral blood mononuclear cells, CD4+ (47.0%) and CD8+ cells (21.7%) were within normal ranges. Cells bearing both CD4 and CD25 (10.9–16.5%, measured at three different times), a marker for ATLL cells or regulatory T cells, were slightly increased, but there was no abnormal population distinct from normal CD4+ T cells (fig. ). The frequency of HLA-DR+CD8+ activated T cells was slightly increased (6.2%; normal <3%). By Southern blot analysis of HTLV-1 proviral DNA, clonal integration was not detected in the peripheral blood mononuclear cells. Phototests with UVB showed normal minimal erythemal dose, and UVA did not induce erythema at 3 J/cm2.
A biopsy specimen taken from the neck revealed a perivascular infiltrate of lymphocytes, showing exocytosis into the hair follicle epithelium (fig. ). They were CD3+ (fig. ), and some of them were positive for both CD4 (fig. ) and CD25 (fig. ), sharing the phenotype with ATLL neoplastic cells or regulatory T cells. Notably, an aggregate of CD8+ T cells (fig. ) bearing cytotoxic molecule TIA-1 (fig. ) was also observed.


A 49-year-old left hand dominant, overweight woman bus driver with coronary artery disease sustained a bicolumnar intra-articular DHF after a mechanical fall, tripping over a cardboard box and landing on the right outstretched upper extremity. The fracture created a simple articular split and relatively high, noncomminuted fractures of both the medial and lateral columns. She underwent open reduction internal fixation (ORIF) without osteotomy and relatively short distal locking screws were used []. She was splinted for a few days then allowed to start stretching the elbow. Two weeks later she experienced a sudden onset of increased pain and imaging revealed loss of fixation []. During surgery for repeat ORIF an olecranon osteotomy was performed for exposure. The medial LCP was replaced with a 3.5mm non-locking reconstruction plate and the lateral LCP was revised to an LCP with a lateral extension incorporating 2 long locking screws extending well into the trochlea []. The non-locking plate made it easier to direct a long screw across the trochlea and into the lateral column. Three months after the second surgery, the fracture had healed and she had returned to light duties at work. She had a 15o flexion contracture and 110o of flexion.


A 27-year-old left-handed woman nanny sustained a left low (meaning that the columnar fractures were at the level of the base of the coronoid and olecranon fossae) bicolumnar extra-articular DHF in a fall on the outstretched upper extremity whilst skiing. She underwent ORIF with two precontoured LCPs at a regional center the following day. She came to one of us for further care. The distal locking screws were very short and the fixation marginal. In fact, no distal locking screws were used on the medial side [Figures ; ]. The distal screws placed through the posterolateral plate are placed off axis and do not thread into the plate. () She was placed in a removable splint for two more weeks. One month after surgery she was taught active, self-assisted elbow stretches. At discharge 3 months later she had a healed fracture in good alignment, and a 110-degree arc of elbow motion.


A 73-year-old woman sustained a right low bicolumnar intra-articular DHF after falling on the outstretched hand tripping on a rug. She underwent ORIF with two LCPs with short distal locking screws at a regional center the same day. Four weeks post-operatively, she experienced sudden onset pain and swelling and imaging revealed loss of fixation. She underwent revision ORIF where the distal fracture was taken down, realigned and the lateral LCP was exchanged for a longer LCP and the original medial LCP was translated more anteriorly so that longer locking screws could be placed through the trochlea. At discharge 3.5 months later the fracture had healed and she demonstrated a full range of elbow motion.


We present the case of a 19-year-old African American female who presented with left-sided parastheia, weakness, and headache for 2 days duration. Her past medical history was significant for four syncopal episodes lasting less than 30 sec, for which the patient did not seek medical attention. Physical exam revealed decreased light touch and proprioception in the left lower extremity. Laboratory test including complete blood count (CBC), basic metabolic profile, urine drug screen, and thyroid functions were within normal limits.
Computerized tomography of head showed multiple small foci of hypoattenuation in the right periventricular white matter. Contrast magnetic resonance imaging of the brain showed scattered areas of T2 hyper intense signal within the white matter of the right cerebral hemisphere in the ‘watershed areas’ (). Additional laboratory tests including erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), Antinuclear antibodies (ANA), Cytoplasmic antineutrophil cytoplasmic antibodies (c-ANCA), Perinuclear antineutrophil cytoplasmic antibodies (p-ANCA), protein C and S, antithrombin III, homocysteine, factor V Leiden, coagulation profile, rapid plasma reagin (RPR), HIV, vitamin B12, folate, and a lumbar puncture were all within normal limits.
Magnetic resonance angiography of the brain revealed near occlusion of the distal supraclinoid segment of the right internal carotid artery (ICA) with extensive collateral augmentation ().
Conventional angiography of the head and neck was performed which confirmed the occlusion. Also revealed was a moyamoya-like conversion of the lenticulostriate arteries giving a classic ‘puff of smoke’ appearance (). Based on this, patient was diagnosed with Moyamoya disease. She then underwent neurosurgical anastomosis of the right superficial temporal artery to the right middle cerebral artery.


A 68-year-old man admitted to our emergency department with complaints of sudden onset of epigastric pain and vomiting. He had a history of coronary by-pass 6 years ago, but he had no history of myocardial infarct. His regular medications were atorvastatin 10 mg/day, acetylsalicylic acid 100 mg/day and ramipril 10 mg/day. Since he had a history of coronary artery disease, he first evaluated for acute coronary syndrome although he had not typical cardiac symptoms. Repeated electrocardiograms and cardiac enzymes were normal. On biochemical work-up amylase [167 U/L (27-131)], lipase [234 U/L (8-78)], liver enzymes [AST 146 U/L (5-34), ALT 250 U/L (0-55), GGT 324 U/L (12-64)], total bilurubin [1.80 mg/dl (0.2-1.0)], and direct bilurubin [1.1 mg/dl (0-0.2)] were found moderately elevated on admission. All other labs were normal. He underwent cholecystectomy 35 years ago and he had no symptoms since then. On a detailed anamnesis he was asked to use any other drugs. He stated that, because he had non-suppurative dry cough and mild muscle ache due to common cold, his family physician prescribed him a pain-killer which includes (300 mg acetaminophen and 30 mg codeine) with a third time daily dose. He stated that almost 60 minutes after taking the drug he experienced a blunt epigastric pain radiating to his back. The severity of the pain increased with time. Abdominal ultrasonograpy was normal with no dilation of intra-hepatic and extra-hepatic bile ducts and with no sign of bile stones. An abdominal tomography showed mild edema and inflammation of pancreas. Oral feeding was stopped and the patient was supportively managed for pancreatitis. His pain began to decrease after 24 hour and completely resolved after 48 hours. Amylase and lipase levels returned normal after 48 hours and all other labs normalized within 5 days.


A 4-year-old boy presented with a diffuse swelling involving left cheek and left side of upper lip since birth causing disfigurement of his face. The diffuse lump started as a small red nodule at birth which gradually increased to the present size with the growth of the child. There was no history of any pain or bleeding from the lump. On examination, there was a diffuse, ill defined, soft, non-compressible swelling in the left cheek and left side of the upper lip []. Hyperpigmented spots were also noted on the skin of the left cheek. There was no bruit on auscultation.
Doppler ultrasound was done which revealed a vascular lesion with doubtful communication with left facial vein. In view of the clinical presentation and inconclusive doppler report, a possibility of hemangioma followed by arteriovenous malformation was kept. Propanolol was started at the dose of 0.5 mg/kg and increased to 2 mg/kg but the swelling persisted. The child also received three cycles of intralesional bleomycin. However, there was no improvement in the size of the lump, despite treatment for 8 months. Finally, surgery by intraoral route was planned. The aim of the surgery was to explore the cheek and lip and attempt debulking. During surgery, it was found that there was dense fibrosis in the cheek with infiltration into underlying tissue and muscle resulting in difficult excision. The upper lip was also partially debulked and sent for histopathology. Microscopically, haphazard proliferation of capillary-sized vessels were seen mostly adjacent to vein wall along with abundant adipose tissue. Thick-walled larger blood vessels were also seen. At places these capillaries were arranged in a lobular pattern infiltrating into fat and adjoining muscle. Numerous nerve bundles, few of them showing myxoid change were also seen []. However, no arteries or arterioles were seen and vessel wall was negative for elastic tissue (Verhoffs stain). Based on the clinical details and histopathological findings, a final diagnosis of angiomatosis was given.


A 58-year-old female patient presented with severe constipation, abdominal pain and hematuria. Four years ago, she underwent radical hysterectomy and bilateral salpingo-oophorectomy due to uterine leiomyosarcoma. She also had three sessions of postoperative adjuvant chemotherapy.
Physical examination revealed a large palpable, nontender, lower abdominal mass on admission. There was no lymphadenopathy or other associated findings. Abdominopelvic computed tomography (CT) scan showed a round shaped, large mass measuring 10×11 cm in the pelvic cavity (). The tumor mass was heterogeneous, with areas of central necrosis. This mass involved the sigmoid colon and left distal ureter. Due to the mass effect, the left ureter and renal calyces were dilated. No tissue plane was identified between the mass and the sigmoid colon, left ureter and left EIA (). It did not appear to involve the aorta, vena cava or right kidney. Because the radiographic findings were highly suggestive of recurrent leiomyosarcoma and showed signs of sigmoid colon obstruction, we decided to proceed directly to surgery.
At laparotomy, a huge round mass was found in the pelvic cavity. The mass directly invaded the sigmoid colon, left ureter, and left EIA. No tissue plane could be created between the mass and these structures. We performed an en bloc resection including the sigmoid colon, left ureter and 5 cm of left EIA. Although the patient had received mechanical and antibiotic preoperative bowel preparation, we were reluctant to perform vascular reconstruction with prosthetic graft in a potentially contaminated wound. Although an autogenous vein graft could be considered, another preparation and skin incision would be needed. Therefore, we decided to reconstruct the left EIA with left hypogastric artery transposition. After mobilizing the left hypogastric artery and ligating multiple branches, we transected it distally and rotated it anteriorly to the distal EIA (). A beveled end-to-end anastomosis was performed with running 5-0 polypropylene sutures. After restoring perfusion to the left leg, femoral and distal pulses were present. After arterial reconstruction, end sigmoidostomy was made in the left lower paramedian portion. The patient recovered uneventfully and was discharged from the hospital 1 week after surgery. On the follow up visit, CT scan showed a patent arterial reconstruction ().


A 15-year-old male with a height of 172 cm and weighing 65 kg was admitted for epilepsy surgery. The pre-anaesthetic evaluation was unremarkable except for uncontrolled seizures on oral phenytoin sodium 100 mg thrice daily, carbamazepine 400 mg twice daily and sodium valproate 500 mg twice daily. The patient was taken up for left AHE under general anaesthesia. The intra-operative period remained stable during which he had 150 ml blood loss. An external drain was placed intra-operatively to prevent any collection of haematoma. At the end of surgery, the patient was extubated and shifted to the Intensive Care Unit (ICU) for observation. He remained stable for next 24 h. A post-operative computerised tomography (CT) scan of the head did not reveal any significant findings. He was shifted out of the ICU. Almost 14 h thereafter, the patient started to develop weakness of the right side of the body (power 2/5) and global aphasia. He was immediately shifted back to the ICU where a TCD revealed normal flow pattern [].
A repeat CT scan of the head was unremarkable. Based on a high index of suspicion, digital subtraction angiography (DSA) was performed which revealed vasospasm of the left middle cerebral artery territory []. Intra-arterial (IA) vasodilatation was performed with 3 mg of nimodipine as a slow infusion over 30 min, along with oxygen supplementation and noradrenaline infusion to maintain a mean arterial pressure between 90 and 110 mm Hg. The patient showed immediate clinical and angiographic [] improvement following IA vasodilatation with the near-total return of power, speech and recognition after 4 h.
Oral nimodipine (60 mg q4 h) was started post-IA dilatation along with intravenous (IV) fluids. Oxygen therapy and noradrenaline were continued in the ICU for the next 24 h. He was shifted back to the ward on oral nimodipine and IV fluids. As the patient remained neurologically stable, he was discharged after 2 days with advice to continue oral nimodipine for 3 weeks.


A 30-year-old female with severe breathlessness since 2 days prior to admission. She complained of cough and breathlessness on exertion and low grade fever since 3 weeks and generalized weakness since 1 week. On examination, she was severely dyspneic and had pulsus paradoxus. Echocardiogram showed massive pericardial effusion with cardiac tamponade [].
Pericardiocentesis was done and 1,300 ml of hemorrhagic fluid was collected. A continuous drain was put. Results of complete blood picture were: Total count - 6,800/mm3, polymorphs - 67%, lymphocytes - 23%, eosinophils - 06%, monocytes - 04%, platelet count - 160,000/mm3, hemoglobin - 11 g%, erythrocyte sedimentation rate (ESR) - 40 1 h., human immunodeficiency virus (HIV)-nonreactive, and hepatitis B surface antigen (HBsAg)-negative. Complete urine examination, blood sugar, urea, creatinine, and electrolytes; all were in normal range. Cytological analysis of fluid showed - 7,000 cells/mm3, (neutrophils - 35%, lymphocytes - 65%, plenty of red blood cells (RBC)), negative for malignant cells, sugar - 61 mg%, proteins - 6 g%, albumin - 2.5 g%, adenosine deaminase (ADA) - 23 U/L, acid-fact bacilli (AFB) - negative; microscopy and routine cultures were negative for bacteria.
While screening the smears, a few large, long, smooth-walled, refractile unstained worm-like structures were observed. The organisms were identified as Mf of W. bancrofti in the smears stained by Leishman's stain []. Peripheral blood smears were negative for Mf. Patient was started on diethylcarbamazine (DEC) 100 mg twice daily. The patient improved rapidly and subsequently discharged. DEC was continued for 3 weeks. Six weeks later she presented with similar complain. Cardiac echocardiogram showed massive pericardial effusion with cardiac tamponade. Pericardiocentesis was done and 1,100 mL of hemorrhagic fluid was collected. Cytology showed plenty of RBC, occasional pus cells, and microfilaria of W. bancrofti []. There was no evidence of malignant cells. Hematological and biochemical tests were within normal limits. HIV and HBsAg were nonreactive. Adenosine deaminase (ADA) level was 22 U/L. She was treated with single dose of 12 mg ivermectin and albendazole 400 mg. The patient improved rapidly by next day and effusion was grossly reduced by the 2nd day. Albendazole was continued for another 2 weeks. The patient is doing well and is on regular follow-up since then.


A 45-year-old non-smoker, male, with no significant past medical history, presented to the outpatient clinic of our hospital with progressive dyspnea on exertion and anginal chest pain for one year. He reported having an echocardiogram in an outside hospital that showed a tortuous vascular channel along the right atrium concerning for CA aneurysm. The cardiac and respiratory exam was unremarkable. The cardiac apex was not displaced, and there was no murmur. ECG showed normal sinus rhythm with no ST/T wave changes. His exercise treadmill test was positive for ischemic changes with accompanying chest pain.
Electrocardiogram-gated contrast-enhanced (CE) MDCT was done for further evaluation of the anomaly. Prior to image acquisition, the patient received oral metoprolol for heart rate control and also received 0.8 mg of nitroglycerin immediately before scanning for coronary vasodilatation. CECT showed an enlarged and tortuous right CA [arrows in Figure –] in the right atrio-ventricular groove that drained into the right atrium [star in ] consistent with a CCF. CT also showed the absence of any coronary atherosclerosis. Three-dimensional volume rendered (VR) images accurately depicts the relationship of the enlarged right CA to the aorta, right-sided chambers, and the CAs. Since the patient was symptomatic, surgical closure of the fistula was done. The postsurgical course was uneventful with resolution of chest pain and dyspnea.


A 41-year-old female, with a past medical history of DM1 treated with insulin glargine and insulin aspart, presented with a 1-day history of diffuse abdominal pain and weakness. Her symptoms were associated with chills, nausea, and just one episode of emesis. Over the preceding 4 days, the patient had developed a Bartholin's gland cyst infection with abscess formation. She admitted to abstaining from any solid food intake in the previous 2 days; however, she maintained her liquid intake and continued taking her insulin glargine without insulin aspart. She denied any alcohol intake or drug abuse. Her vital signs were within normal limits. Physical examination was significant for diffuse abdominal tenderness without rigidity or guarding and a ruptured Bartholin's gland abscess with drainage to the skin. Blood work showed a white blood cell (WBC) count of 13,000 cells/mcL (normal range: 4,500-10,000/mcL), hemoglobin level 11.2 mg/dL (normal range: 12.3-15.3 g/dL), platelet count 448,000/mcL (normal range: 150,000-450,000/mcL), sodium 135 mmol/L (normal range: 136-145 mmol/L), potassium 3.6 mmol/L (normal range: 3.5-5.1 mmol/L), chloride 105 mmol/L (normal range: 98-107 mmol/L), carbon dioxide 6 mmol/L (normal range: 21-32 mmol/L), anion gap 24 mmol/L (normal range: 3-11 mmol/L), urea nitrogen 4 mg/dL (normal range: 7-18 mg/dL), creatinine 0.58 mg/dL (normal range: 0.6-1.3 mg/dL), glucose 191 mg/dL (normal range: 70-100 mg/dL), beta hydroxybutyrate >4.5 mg/dL (normal range: <0.4 mg/dL), magnesium 1.3 mg/dL (normal range: 1.6-2.3 mg/dL), phosphorus 1.3 mg/dL (normal range: 2.5-4.9 mg/dL), lactate 0.8 mmol/L (normal range: 0.4-2 mmol/L), and HBA1C 12.5% (normal range: 4-5.6%). Urinalysis was significant for +3 ketones and sugar. Arterial blood gas showed pH 7.07, pCO2 12. A urine drug screen was negative, and serum ethanol level was undetectable.
The patient was diagnosed with euglycemic DKA precipitated by an underlying infection. Intravenous fluid (IVF) resuscitation with normal saline was initially started at a rate of 1.0 L/h for a total of 2 L. The patient's hydration status, serum electrolytes, blood urea nitrogen (BUN), creatinine, glucose, and urine output were monitored closely. After 2 h, repeat blood work showed a serum sodium 141 mmol/L, carbon dioxide 8 mmol/L, potassium 3.5 mmol/L, and glucose 153 mg/dL. Subsequently, IVFs were switched to 5% dextrose and 0.45% NaCl at a rate of 250 cc/h, and an insulin drip at a rate of 5 units/h was started. Then, 30 mEq potassium was added to each liter of the IVF, excluding the first liter, targeting a serum potassium level of 4-5 mEq/L. After 11 h, blood work revealed a serum bicarbonate level of 16 mmol/L with a normal anion gap; hence, subcutaneous insulin and oral intake were initiated. Intravenous insulin was continued for another hour to ensure adequate plasma insulin levels. The Bartholin's gland abscess was treated, and the patient was discharged on the following day.


A 21-year-old male with a past medical history of DM1, treated with insulin glargine and insulin aspart, presented with epigastric abdominal pain of 1-day duration. The pain was severe, radiating to the back, with no aggravating or relieving factors, and was associated with nausea, three episodes of emesis, chills, and fatigue. He admitted to abstaining from any solid food intake on the previous day; however, he maintained his liquid intake and continued taking insulin glargine without insulin aspart. He denied any alcohol intake or drug abuse. His vital signs were within normal limits. Physical examination was significant for epigastric tenderness, without rigidity or guarding, and no signs of dehydration. Blood work showed a WBC count of 16,600 cells/mcL, hemoglobin 14.2 g/dL, platelet count 466,000/mcL, sodium 136 mmol/L, potassium 3.8 mmol/L, chloride 100 mmol/L, carbon dioxide 14 mmol/L, anion gap 22, urea nitrogen 5 mg/dL, creatinine 1.1 mg/dL, glucose 106 mg/dL, beta hydroxybutyrate 4.5 mg/dL, lipase 3446 U/L (normal range: 73-393U/L), magnesium 1.8 mg/dL, phosphorus 2 mg/dL, lactate 1.6 mmol/L, and HBA1C 10%. Urinalysis was significant for +3 ketones and sugar. Arterial blood gas revealed a pH of 7.30 and a pCO2 of 30. Both the urine drug screen and the ethanol level were undetectable.
He was diagnosed with euglycemic DKA, precipitated by acute pancreatitis. IVF resuscitation with normal saline was initially started at a rate of 1.5 L/h. The patient's hydration status, serum electrolytes, BUN, creatinine, glucose, and urine output were monitored closely. After 2 h, IVF were switched to 5% dextrose and 0.9% NaCl at a rate of 250 cc/h, and an insulin drip at a rate of 6 units/h, was started. Then, 30 mEq potassium was added to each liter of the IVFs, excluding the first liter, to maintain a target serum potassium level of 4-5 mEq/L. Within 6 h, the serum bicarbonate and anion gap were within normal limits; hence, subcutaneous insulin was restarted, while the insulin drip was continued for an additional 1 h. However, aggressive hydration with normal saline at a rate of 250 cc/h was continued for a total of 12 h, as recommended by the guidelines for the management of acute pancreatitis.


A 7-month-old female child, the first born of non-consanguineous parents, was found to have imperforate anus at birth and was operated for the same shortly after birth. The child was found to have a dimple with altered skin color around the dimple in the low back since birth. The child was referred for neurosurgical consultation at the age of 7 months for evaluation of associated spinal dysraphism. Examination revealed a moderately nourished child who had a deflected gluteal cleft and a dimple in the low lumbar region with surrounding discoloration of the skin. The right lower limb was slightly thinner than the left lower limb. No other neurological deficits could be made out. Plain radiographs revealed scoliosis of the lumbar spine with hemivertebrae of L4 and L5, spina bifida of S1, and absent last two sacral segments []. In addition, there were also rib anomalies characteristic of spondylocostal dysostosis in the form of absent ribs in the mid-thoracic region with a fusion of the ribs posteriorly on the affected side []. Magnetic resonance imaging (MRI) of the spine revealed a low-lying cord with a terminal syrinx along with features of type I split cord malformation at the level of L5–S1 [Figures –]. Axial images revealed the right hemicord to be slightly thinner than the left hemicord []. In view of the above radiological features, a diagnosis of spondylocostal dysostosis with associated type I split cord malformation was made. During surgery, laminectomy of L5 and S1 was done. During laminectomy, the diastematomyelic spur was found attached to the posterior elements and was removed []. Postoperative period was uneventful. There were no respiratory complications during or after surgery. The child was followed for 9 months thereafter without any fresh neurological deficits.


A 14-month-old male child, 2nd child born of non-consanguineous parents, was brought for neurosurgical consultation for a swelling in the low back along with deformity of the chest since birth. On examination, the child was neurologically intact but had a small, skin-covered swelling in the lumbar region []. There was no cry impulse. There was deformity of the chest on the right side. Plain radiographs of the chest and spine revealed features of spondylocostal dysostosis in the form of absence of fifth and sixth ribs on the right side with multiple hemivertebrae in the mid-thoracic region. Scoliosis with convexity to the right side was also evident []. Computed tomography of the thorax revealed features of spondylocostal dysostosis []. MRI of the whole spine revealed a low-lying cord extending up to S1 level with a terminal syrinx and a spinal dermal sinus extending intraspinally [Figures and ]. In view of the above clinical and radiological findings, a diagnosis of spondylocostal dysostosis with tethered cord due to spinal dermal sinus was made. During surgery, the spinal dermal sinus tract was traced to end in the spinal cord just above the termination of the conus []. The sinus tract was excised. There was also a thickened filum terminale [] which was also sectioned. Postoperatively, there was no change in the neurological status of the child. When examined 1-year later, the child had no neurological deficits but had mild scoliosis which had not worsened in the interim.


A 47-year-old man underwent a dual living-donor liver transplantation, consisting of the right lobe from his wife and the left lobe from his brother, due to hepatitis B, liver cirrhosis and hepatocellular carcinoma in February 2010. Postoperatively, he was treated with tacrolimus (initially 0.025 mg/kg/day intravenous injection switched into 3.5 mg per oral administration (per os) twice a day) and methyl prednisolone (initially 50 mg intravenous injection, every 6 hours switched into 12 mg per os twice a day). The serum level of tacrolimus was adjusted to 14.6 ng/ml (normal range, 5-20 ng/ml) and his graft function was excellent. He discharged in stable condition of day 24 with immunosuppressants (Tacrobel® 3.5 mg and methylon® 12 mg, twice a day), acyclovir (Zovirax® 200 mg, once a day) and trimethoprim-sulfamethoxazole (400 mg-80 mg, Septrin® 2 tablets, every other day) to prevent rejection and infection. One week after discharge, he presented at the emergency room with a high fever (39.1℃), watery diarrhea, severe pain and stiffness in the left hip for 4 days. Blood tests showed hemoglobin 11 g/dl, leukocyte count 4,400/mm3, platelet count 71,000/mm3 and normal liver function test but C-reactive protein (CRP) concentration was 4.39 mg/dl. Blood cultures yielded group D Salmonella, which was sensitive to ampicillin, cefixime, and ceftriaxone, and resistant to quinolone. The patient had no joint problems preoperatively. Bilateral hip joint magnetic resonance imaging (MRI) revealed pyomyositis involving the left iliopsoas and external obturator muscles with abscesses in the iliopsoas muscle as well as diffuse synovial enhancement with increased joint effusion in the left hip joint (). Subsequent culture of synovial fluid from the left hip joint revealed no bacterial growth. He was treated empirically with intravenous ceftriaxone 2 g per day and all immunosuppressive agents were stopped for 3 days. Over the next 10 days of intravenous antibiotic treatment, his diarrhea and fever resolved, but pain and limited range of movement of the left hip continued. Three weeks later, follow-up MRI showed that the abscesses in his muscles had decreased but myositis was still present. Diffuse synovial thickening had progressed but the amount of joint effusion had decreased in the left hip (). He was maintained on intravenous antibiotics for an additional 3 weeks, following which he was switched from intravenous ceftriaxone to oral cefixime 400 mg per day and sulfamethoxazole-trimethoprim (400 mg/80 mg) 2 tablets per day. After 5 weeks of antibiotic treatment, his joint pain improved progressively and he discharged with a further antibiotic treatment plan for a total of 6 months. An additional MRI, performed after 6 months of antibiotic therapy, revealed myositis and arthritis were markedly improved (). Six months following his infection, his left hip had clinically improved. He had no joint disability and his graft function has remained stable for 22 months after liver transplantation.


A 22-month-old boy was transferred our hospital due to persistent hepatomegaly for 5 months. Except for hepatomegaly and abdominal distension, he had no specific symptom.
On physical examination, his abdomen was diffusely distended and the liver was palpable at three finger breadths below the right costal margin. He had no jaundice or splenomegaly. His neurologic exams were all normal. Mental state was alert, and muscle contracted normally full resistance. His height was 87 cm, a 0.24 standard deviation (SD) score of age- and sex-matched controls, and his body weight was 14.5 kg (1.46 SD score). No history of hypoglycemic episodes or hepatitis was present. There was no family history of liver disease.
On history taking, the patient was born by normal vaginal delivery after 40 weeks of gestation and his birth weight was 4,020 g. The prenatal and postnatal periods were uneventful and his developmental milestones had been normal. Mild abdominal distension was noted at 12 months of age by his parents. At 17 months of age, he visited a local clinic because of vomiting, diarrhea, and poor oral intake. On physical examination, the abdomen was distended and the liver was palpable at three finger breaths below the right costal margin. Jaundice, lymphadenopathy, or splenomegaly was not noted. His hemoglobin, white blood cell counts, and platelet counts were 12.8 g/dL (normal range, 10.5-14.0 g/dL), 14.65×103/µL (6-15×103/µL), and 572×103/µL (150-450×103/µL), respectively. Serum aspartate aminotransferase (AST) was 53 IU/L (15-40 IU/L) and alanine aminotransferase (ALT) was 56 IU/L (10-40 IU/L). Serum total bilirubin was 0.5 mg/dL (0.2-1.2 mg/dL) and creatine kinase (CK) was 116 IU/L (32-294 IU/L). Serum ceruloplasmin was 36.1 mg/dL (15-44 mg/dL) and ferritin was 38.5 ng/mL (22-322 ng/mL).
In our hospital, his AST, ALT, and bilirubin levels were 42 IU/L, 38 IU/L, and 0.7 mg/dL, respectively. His serum cholesterol, uric acid, glucose, lactic acid, CK, and albumin levels were all normal (). Serological tests revealed no evidence of infection such as hepatitis virus A, B, or C, Epstein-Barr virus, or cytomegalovirus. Plasma amino acid and urine organic acid profiles were also unremarkable. On sonographic examination, his liver was enlarged with slightly increased parenchymal echogenicity but the intrahepatic and extrahepatic biliary ducts were not dilated. The gallbladder and spleen were normal. A liver biopsy was performed and, on histological examination, the hepatocytes were filled with abundant glycogen particles in the cytoplasm with peripheral displacement of organelles ().
With a high suspicion of GSD, genetic testing was performed to rule out GSD III (the AGL gene) and GSD VI (the PYGL gene). Genomic DNA was isolated from peripheral leukocytes of the patient with a PureGene blood kit (Qiagen, Hilden, Germany). All exons and their intronic boundaries of AGL and PYGL were amplified and sequenced using a BigDye Terminator V3.1 Cycle Sequencing Ready Reaction kit (Applied Biosystems, Foster City, CA, USA). He had normal sequences in the coding regions of the AGL and PYGL genes. We then checked PhK activity in the red blood cells, which was 15 µmol/min/g Hb (normal range, 100-300 µmol/min/g Hb). With a suspicion of GSD IXa, the PHKA2 gene was tested. Thirty-three exons and their intronic boundaries were investigated, revealing a previously reported mutation, c.3210_3212del (p.Arg1070del) () []. His mother carried the mutation as a heterozygote (). However, there was no family history of liver disease on his maternal side.
We educated his parents on preventing hypoglycemia via frequent meals high in complex carbohydrates and protein, as well as cornstarch supplements. In particular, we advised that cornstarch should be fed to the patient before bed to maintain an adequate glucose level throughout the night. We recommended liver ultrasonography every 6months. At the latest evaluation at 4.2 years of age, his height was 100 cm (-0.4 SD score) and his weight was 19.8 kg (1.32 SD score). He had not experienced any hypoglycemic episodes. Hepatic dysfunction was unchanged except for elevated AST and ALT.


The patient is a 59-year-old man from Bosnia with a two decade history of hypertension refractory to a combination of four high-dose antihypertensive medications. He had concomitant hypokalemia, reaching a nadir of 2.2 mEq/L in 2009, requiring significant daily supplementation. Computed tomography (CT) of the abdomen at that time identified multiple bilateral low-attenuating adrenal lesions. Elevated plasma aldosterone-to-renin concentration ratio (PAC/PRC) confirmed primary hyperaldosteronism. The PAC/PRC worsened, and in 2013, it reached a peak of 281. A repeat CT at that time revealed an enlarging right adrenal lesion []. Adrenal venous sampling (AVS) revealed an aldosterone to cortisol ratio of 1.4 and 12.2 in the left and right adrenal veins, respectively, for a cortisol-corrected aldosterone ratio of approximately nine. The patient was referred to surgery given that the workup suggested a right aldosterone-producing adrenal adenoma in the setting of bilateral adrenal hyperplasia.
In May 2014, the patient underwent laparoscopic right adrenalectomy. During dissection along the inferolateral portion of the adrenal gland it became apparent that the normally avascular plane between the adrenal and renal capsule was absent. Instead, there appeared to be a dense fibrotic adhesion between the surfaces of the two organs. Electrocautery dissection to include a portion of the superior pole of the kidney into the specimen was required for complete excision of the adrenal gland []. The patient tolerated the procedure well, postoperative laboratories revealed normokalemia without supplementation, and a 24-hour urine aldosterone level of less than 1.5 mcg/24 h confirmed the resolution of hyperaldosteronism. The patient's blood pressure was within normal limits with decreasing antihypertensive administration 1 month after excision. Pathologic evaluation of the specimen confirmed multinodular adrenal cortical hyperplasia and partial adrenal - renal fusion [] without evidence of adrenal heterotopia.


A 2-year-old girl presented to the Department of Dermatology with coarse hair present over the entire body since birth. She was born out of a non-consanguineous marriage with an uneventful antenatal and post-natal history, as described by the mother. She also had a 45-day-old sister who did not display this hairy phenotype. There were no associated systemic complications in the child. There was no history of photosensitivity. She was playful like any other normal 2-year-old and responded well to all commands. The main reason for the consult was the issue of cosmesis that alarmed the parents. On examination, terminal hair had a generalized distribution over the entire body [Figures and ], sparing the palms, soles, and the mucosal surfaces. The eyebrows were thick and bushy with an appreciable length of the eyelashes []. The helix of both ears were also coated with hair. The patient had a characteristic coarse facies with low set slightly enlarged ears. Bilaterally the arms demonstrated prominent constriction bands with noteworthy palmar dermatoglyphics []. Constriction bands were also seen in the upper portion of the medial aspect of both thighs []. Her oral cavity showed pink, hyperplastic and stippled gingiva with an altered dental architecture []. A genetic mapping study was planned for the same, but owing to financial constraints it was deferred. Patient was referred to the department of Dentistry for the gingival alteration and her parents were counseled regarding the benign nature of the disease with the possible options of available hair removal techniques, as the child grew older, for a better cosmetic outcome. Patient was asked for a regular review. However, the patient was subsequently lost to follow-up.


A 49-year-old African-American male presented to the emergency room with abdominal distention and significant weight loss. The patient's surgical history was significant for radical cystoprostatectomy with appendectomy and creation of a Mainz pouch. The family history was noncontributory, and the patient is a nonsmoker.
Upon examination of prior records, the patient was noted to have been admitted to the hospital 1-year previously for significant gross hematuria with impending clot retention. Cystoscopy showed a 6-cm mass with stippled calcifications located 3 cm lateral and superior to the left ureteral orifice. The tumor appeared broad based. CT scan showed no evidence of extravesicular disease. Transurethral resection of the entire bladder tumor was attempted; but due to the extent of tissue invasion and a drop in the patient's core temperature, the operation was aborted. Resection pathology confirmed a T2, Grade III TCC of the bladder.
One week later, a radical cystoprostatectomy with appendectomy and creation of a Mainz pouch was performed. Pathologic examination showed a poorly differentiated Grade III TCC between the smooth muscle bundles invading through the muscularis. There was no evidence of any tumor extension into the bladder neck, prostate gland, nor any nodal metastasis. Final staging was T2B N0M0. Additionally, a low-grade well-differentiated prostatic adenocarcinoma consistent with Gleason's score of 4 was found.
Approximately 1 year after the cystoprostatectomy with a Mainz pouch, the patient presented with abdominal distension and weight loss and was admitted to the hospital for a sigmoidoscopy attempting to determine the etiology. The patient was given 100 mg of Demerol and 3 mg of Versed, but the procedure was aborted due to significant resistance met with the sigmoidoscope and excruciating pain. A barium enema was done showing an apple core lesion in the descending colon and sigmoid region with a large bowel obstruction. The patient elected to undergo left hemicolectomy with transverse colon end colostomy. Intraoperatively, a large descending colon mass, adherent to the left abdominal wall was identified and completely excised.
Pathologic examination revealed a 12.7-cm tumor, consistent with TCC. The tumor was found to ulcerate through the overlying mucosa of the colonic epithelium, with 5 of 23 mesenteric lymph nodes positive for metastatic involvement. The colonic and bladder specimen pathology were compared. Both the specimens were consistent with TCC.
The patient experienced no postoperative complications and made an uneventful recovery and was discharged June 2001. He continues to follow up with his urologist and oncologist on a regular basis. The patient was last seen by his oncologist in March 2015. He has no evidence of recurrent disease and is now celebrating his 13th year cancer free.


A 65-year-old man presented to the hospital with one month of worsening fatigue, fevers and night sweats. He had type II diabetes, hypertension and a remote history of multiple episodes of malaria while serving as a missionary in Papua New Guinea. On initial presentation, he was weak and febrile but had no palpable lymphadenopathy, hepatosplenomegaly or rash. Initial laboratory testing revealed anemia, thrombocytopenia, transaminitis and hyperbilirubinemia. Serum immunoelectrophoresis revealed a polyclonal hypergammaglobulinemia. Tests for malaria were negative by both microscopy and polymerase chain reaction. Blood and urine cultures were negative, as were tests for human immunodeficiency virus, viral hepatitis, Lyme and Ehrlichia. Computed tomography (CT) of the abdomen revealed splenomegaly. Bone marrow biopsy demonstrated a polyclonal plasmacytosis, but normal trilineage hematopoiesis. Despite negative testing, relapsed malaria became the working diagnosis and therapy was initiated with atovaquoneproguanil and doxycycline. His clinical condition improved markedly and he was discharged home.
One week later, the patient returned with fevers, tender palpable splenomegaly and an erythematous rash across his anterior chest. Epstein-Barr virus (EBV) testing was positive for IgG antibodies to viral capsid antigen (VCA-IgG) and Epstein-Barr nuclear antigen (EBNA-IgG), IgM antibodies to viral capsid antigen (VCA-IgM) and plasma EBV DNA to a level of 17,100 IU/mL. He was discharged home with a plan of supportive care for a viral illness. However, the patient returned again, just one week later, with fevers and tender bilateral cervical and axillary lymphadenopathy. EBV testing was again positive for VCA-IgG, EBNA-IgG and VCA-IgM. Antibody to EBV early antigen (EA) was also positive. His EBV viral load had increased to 1,400,000 IU/mL. Additional testing revealed a mixed cryoglobulinemia. He was administered high-dose steroids. EBV viral load was rechecked post-steroids and had decreased to 9000 IU/mL. Bone marrow biopsy revealed a hypercellular marrow with diffuse patches of lymphoid infiltrates composed of dense clusters of EBV+ B-cells. Excisional biopsy of an enlarged right axillary lymph node revealed effacement of the nodal architecture and a mixture of large EBV+ CD20+ immunoblasts, plasma cells and histiocytes (). Considered within the context of his EBV serology and viral load, his biopsy findings were felt to be compatible with an EBV-associated lymphoproliferative disorder. A trial of weekly rituximab was initiated.
One week after discharge, the patient’s clinical condition appeared to be improving, his EBV viral load had decreased to 900 IU/mL and IgM-VCA had become equivocal. However, he returned to the hospital just two weeks later with fevers, night sweats and shortness of breath. He was now pancytopenic with a prominent hypereosinophilia. EBV viral load had increased slightly to 2100 IU/mL. Repeat bone marrow biopsy revealed slightly hypercellular marrow with a few residual lymphoid infiltrates made up of heterogeneous T-cell populations but almost no B-cells and no EBV+ cells, felt to reflect rituximab therapeutic effect. He stabilized clinically and was discharged with plans to continue weekly rituximab treatments.
One day later, the patient returned with high fevers and shortness of breath. He was pancytopenic and now exhibited Coomb’s positivity and a nonspecific cold agglutinin. EBV viral load had increased to 6700 IU/mL. Excisional biopsy of an enlarged left axillary lymph node revealed complete effacement of the nodal architecture, a diffuse polymorphic infiltrate with a large number of atypical CD4+/CD10+/PD1+ T-cells, prominent vascular proliferation and a meshwork of follicular dendritic cells. A few scattered cells stained CD20+, but EBV staining was negative (). Clonal rearrangements were detected in T-cell receptor genes. This constellation of findings was diagnostic for angioimmunoblastic T-cell lymphoma (AITL).
Over the next week, the patient’s clinical condition worsened substantially and he developed profound refractory anemia and thrombocytopenia. His EBV viral load increased to 47,900 IU/mL, while IgG-VCA and IgG-EBNA remained positive and IgM-VCA remained equivocal. Testing now revealed the presence of an anti-E antibody. He was administered Rituximab and started on daily high-dose steroids. Days later, his EBV viral load had come down to 6400 IU/mL. However, his condition continued to worsen and he developed epistaxis, hemoptysis and preretinal hemorrhages. Chemotherapy was initiated with cyclophosphamide, dexamethasone, vincristine and doxorubicin (CHOP). He was discharged home with plans to continue chemotherapy as an outpatient. However, just two days later, he returned with persistent bleeding from his left axillary biopsy site. Bone marrow biopsy now revealed marked hypercellularity with diffuse dense atypical lymphoid infiltrates, composed predominately of the same atypical T-cells seen in his recent lymph node biopsy, admixed with plasma cells, eosinophils and occasional EBV+ B-cells. His chemotherapy regimen was intensified with the addition of etoposide (CHOEP). However, days later, he developed catastrophic pulmonary hemorrhage and expired.


A 78-year-old man, with remote history of pigmented skin lesions previously treated with liquid nitrogen, presented with an enlarging palpable, erythematous mass on his left posterior shoulder. A fine needle aspirate (FNA) showed atypical findings with single amelanotic cells with high nuclear to cytoplasmic ratio, mono- and multi-nucleation with prominent nucleoli, and intra-nuclear inclusions. Differential diagnosis at this stage favored sarcoma. A subsequent excision showed a large nodule within the dermis, composed of sheets and nests of amelanotic cells with plasmacytoid morphology (cells with abundant cytoplasm, eccentric nuclei, and pale paranuclear zones) (). Less than 5% of the nodule showed pseudopapillary architecture, lined by malignant cells (). There was no overlying melanoma in situ or any dysplasia of the epidermis. Review of the excision and immunohistochemical analysis revealed that the malignant plasmacytoid cells stained strongly and diffusely with vimentin, S-100, HMB-45, and melanoma cocktail (HMB-45 + MART-1 + tyrosinase, Biocare Medical), in keeping with melanoma. Following clinical examination (dermoscopy and ophthalmoscopy), imaging (computed tomography and magnetic resonance imaging), and investigations (esophagogastroduodenoscopy and colonoscopy) failed to reveal any other sites of disease of melanoma. A subsequent wide local excision and sentinel lymph node excision revealed a focal positive deep margin, satellite/in transit metastasis (), and negative lymph node. The patient underwent 2 weeks of adjuvant radiotherapy to the excision site for management of the positive surgical margin. Four months following the initial excision, however, radiological imaging noted metastatic disease to the lungs and liver, and residual disease at the excision site. Molecular analysis of the melanoma revealed a BRAF V600R gene mutation. Treatment options were discussed including protein kinase inhibitors for unresectable metastatic melanoma (dabrafenib and vemurafenib) and standard chemotherapy with dacarbazine. The patient was commenced on single agent dabrafenib but unfortunately did not tolerate the treatment. He developed significant side effects and his condition deteriorated. The treatment was ceased after 10 days and the patient was transitioned to palliative care.


A 10 year-old Hispanic male presented with a fluctuant mass in the right maxilla. Computed tomography (CT) scan revealed a 3.3 cm soft tissue lesion with destruction of the adjacent maxillary bone and sinus, and displacement of several teeth. Biopsy demonstrated OGCC. Preoperative staging five weeks later revealed size progression and metastatic disease. The mass now measured 5.3 cm. A right submandibular node and several enlarged right cervical lymph nodes were noted corresponding to FDG avidity on PET. Right-sided modified radical maxillectomy and palatectomy, and right-sided modified radical neck dissection was performed one week later. Significant involvement of the buccal mucosa and submandibular gland were noted. After multiple attempts, final surgical margins were negative. Pathology confirmed OGCC (). Seven of thirty-eight Level I and II lymph nodes were positive for metastases. The tumor was positive for EGF receptor indicating cellular expression of EGFR protein. One week after surgery, maxillary packing was removed in the operating room. No tumor recurrence was appreciated. Adjuvant therapy was recommended given the rapid pre-surgery growth, positive lymph nodes, and concern for microscopic residual disease. A lesion in the right buccal space was noted at the time of radiation simulation (19 days after surgery). Given these findings and prior history of rapid growth, this was presumed recurrent tumor. An intensity modulated radiation therapy (IMRT) plan was designed for the entire rightsided postoperative bed and bilateral neck. The patient received 44 Gray in 22 fractions (6 mega-Volt photons) prior to receiving a break for treatment-related toxicities. Imaging obtained then showed a 4.9 cm soft tissue mass in the right cheek and a 1.7 cm left gingivolabial soft tissue mass (). Biopsy confirmed OGCC. Radiation volumes were expanded to include the new disease.
In summary, the postoperative bed received 60 Gray in 30 fractions over two plans (44 Gray in 22 fractions plus 16 Gray in eight fractions). The left gingivolabial disease received 39 Gray in 13 fractions in two plans (24 Gray in eight fractions plus 15 Gray in five fractions). Treatment was delivered over 63 days. The patient remained dependent on a feeding tube throughout radiation. He developed pain, nausea, oral candidiasis, dermatitis, and nasal mucosa irritation.
Carboplatin was given prior to each radiation fraction if blood counts were adequate. After completion of radiation, monthly cetuximab was initiated. The patient received nine doses prior to being lost to follow-up. When he returned 14 months after completion of radiation, restaging scans demonstrated no recurrent tumor.


A 15-year-old African American girl, with past medical history significant for juvenile onset diabetes mellitus, underwent sinonasal surgery for fungal sinusitis. The preoperative magnetic resonance imaging (MRI) of the sinuses had shown absence of the flow void from the cavernous portion of the right internal carotid artery (ICA) while the left sided flow void was normal []. Surgery did not document fungal disease extension into the either cavernous sinus. The patient was referred to a postoperative computed tomography angiography (CTA) of the head and neck for better evaluation of the right ICA.
Computed tomography angiography showed a normal caliber of the right common carotid artery (CCA), external carotid artery (ECA) as well as the proximal 1 cm of the right ICA. After the normal first centimeter, the ICA became of narrow caliber, without evidence of thrombus or dissection, and remained of homogeneous small caliber all the way into a hypoplastic carotid canal. Findings confirmed the congenital nature of the small ICA [].
Arising from the medial aspect of the proximal ICA was a small caliber vessel that ascends vertically between the ICA and pharynx, to the under surface of the base of the skull, lying on the longus capitis muscle. The course of this artery was consistent with an ascending pharyngeal artery (AscPA). This artery did not provide any intractranial branches or any feeders to the ICA distribution.
The remainder of the CTA was normal, namely the ICA was of normal course and caliber, and there was no evidence of intracranial aneurysms. The left AscPA was not identified with certainty.


A 71-year-old non-smoker woman presented at our ambulatory with persistent dyspnea despite many months therapy with systemic steroids and inhaled bronchodilator plus steroids for a previous history of bronchial asthma. Lung function tests showed a plateau in the middle of the expiratory part of the flow-volume curve without significant improvement after short-acting beta2 agonist inhalation, suggesting the presence of intra-thoracic irreversible obstruction []. At the chest X-ray, a relevant latero-lateral stenosis of the distal trachea was evident. Chest computed tomography (CT) scan was then performed showing a diffuse thickening of lateral right tracheal wall until the carina with involvement of right upper lobe bronchus and apical segmental bronchus. Fibrobronchoscopy confirmed the presence of tracheal right deviation with a stenosis of about the 25% of the distal tracheal lumen extended to the right upper lobe bronchus caused by marked mucosal hypertrophy []. Bronchial biopsy was positive to the Congo red stain so the diagnosis of primary tracheo-bronchial amyloidosis (isolated AL) was performed. The presence of extra-pulmonary lesions was then excluded through radiological examination (total-body CT scan) and immunological and serological chemistry tests (immunoglobulins and pro-B-type natriuretic peptid -pro-BNP- measurement, Bence Jones protein lab test, routine blood tests). The patient was successfully treated with the placement of a metallic tracheal stent following a Nd-Yag laser-assisted disobstruction of central airways.


A 71-year-old male patient, former smoker, had a diagnosis of cardiac amyloidosis treated since few years with talidomide, melphalan, and disodic pamidronate. He presented at our ambulatory with worsening dyspnea. The chest X-ray showed bilateral pleural effusion despite of optimized diuretics therapy. Serum pro-BNP was within normal values. Chest and abdomen CT-scan was performed showing moderate bilateral pleural effusion, pleural thickening with enhancement after contrast mean injection, and multiple micro-calcifications in the distal lung regions and in the spleen. Lung function tests resulted in severe restrictive impairment (vital capacity (VC), total lung capacity (TLC), residual volume (RV), and forced vital capacity (FVC): 40%, 43%, 42%, and 45% of the predicted values) and severe diffusing capacity of the lung for carbon monoxide (CO)(DLCO) reduction (38% of the predicted value). The chemical-physical analysis demonstrated the trasudative nature of the drained pleural fluid. The diagnosis of primary systemic AL amyloidosis with pleural involvement was then performed by means of tissue specimen examination obtained with the Cope needle pleural biopsy.


A 53-year-old, non-smoker, male patient came to our ambulatory and subsequently admitted in our Respiratory Intensive Care Unit for severe dyspnea associated with severe non-hypercapnic hypoxemia (PaO2/FiO2 ratio 120; PaCO2 28.5 mmHg, pH 7.485). He had a history of chronic kidney failure due to type I membrano-proliferative glomerulonephritis. As the hypoxemia was refractory to high-flow oxygen-therapy (Reservoir mask with O2 at 15 liters per minute), a trial of non invasive ventilation (NIV) delivered via a full-face mask was attempted (mode Pressure-support, PS = 20 cm H2O; PEEP 8 cm H2O; FiO2 0.80); then, after 20 hours, endotracheal intubation and invasive mechanical ventilation resulted mandatory due to NIV failure. Chest CT-scan showed a pattern of bilateral alveolar consolidations and ground glass areas suggesting three possible diagnostic hypotheses: Organizing pneumonia (OP), vasculitis, or Goodpasture syndrome [].
A large battery of immunological and microbiological investigations resulted negative. Fibro-bronchoscopy with bronchoalveolar lavage fluid (BAL) and transbronchial lung biopsy (TBLB) were performed during NIV; the histological exam of the collected tissue showed a pathologic pattern of unspecific neutrophilic capillaritis. As the patient refused to underwent surgical biopsy, the empiric therapy with intravenous pulsed bolus of cyclophosphamide and steroids was given. He died after a worsening of his clinical conditions, radiological findings, and lung gas exchange. The autopsy reported systemic AL amyloidosis with prevalent lung and renal involvement.


The present case report is about a 70-year-old hypertensive male patient with a long history of hematuria and left flank discomfort. Laboratory investigation showed normal hemoglobin count and liver function test. Creatinine was slightly elevated (126 Umol/l) normal range is (53-115 Umol/l); urine analysis showed 8 red blood cell/HPF and urine culture was normal.
Contrast-enhanced axial computed tomography (CT) images obtained during the nephrographic phase show a 14 cm heterogeneously enhancing mass in the left kidney with perinephric stranding.
He was admitted for left radical nephrectomy which passed uneventfully and the patient started on the postoperative analgesia and resumed oral diet 24 h postoperatively.
The day after, he developed chest pain and drop in his blood pressure (BP) to 80/50, electrocardiogram shows acute ischemic changes in the left ventricle with elevated cardiac enzymes and troponin T.
He was connected to the cardiac monitor and resuscitated until the BP elevated to 97/57 temporarily.
During the preparation for cardiac catheterization, the BP dropped again and the patient was coded. After 3 failed resuscitation, the patient was announced dead.


A 22-year-old man was brought by his relatives in an emergency department following partial seizures involving right half of the body, which occurred after a severe headache a few hours prior to admission. After initial stabilization patient was shifted to the neurology ward where a formal clinical evaluation was performed. He had a weakness in both legs and required support to walk for the last 3 months. He had constipation and intermittent urinary retention for a week. He had a history of swelling in the back of left thigh, which was surgically resected 6 months back. His blood pressure was normal with no history of addiction or any other major illness. Cutaneous examination revealed multiple nodules (firm to rubbery in consistency) of varying sizes all over the body [] along with many café-au-lait spots []. Ocular examination was significant for a Lisch nodule in iris []. Clinical examination for higher neurological functions and cranial nerves did not reveal any abnormality. Patient had weakness in bilateral hip abduction, extension, knee flexion, extension and ankle dorsiflexion and plantiflexion. He had impaired sensation for pain, touch, and temperature in L5 to S3 distribution. Bilateral ankle reflexes were absent whereas other deep tendon reflexes were sub-optimal. Since the patient satisfied 3 out of 7 diagnostic criteria for neurofibromatosis type 1, a diagnosis of NF1 was made.
Patient's complete hemogram, kidney and liver function tests were within normal limits. Chest X-ray was normal. An urgent noncontrast computed tomography brain revealed subarachnoid hemorrhage in left perisylvian region []. His previous hospital records were reviewed, in which the preoperative ultrasound of left thigh showed a hypoechoic solid lesion in the posterior aspect of left thigh in muscle plane, measuring 10.9 cm3 × 3.4 cm3 × 5.8 cm3. Histopathology of the lesion after resection showed features suggestive of a low-grade pleomorphic rhabdomyosarcoma. The cutaneous nodules were also biopsied, and histology was consistent with neurofibroma. Magnetic resonance imaging of the lumbosacral spine [] demonstrated a large soft tissue mass displaying mixed signal changes on both T1 and T2 weighted images with a heterogeneous postcontrast enhancement. The tumor was seen arising from sacrum with surrounding bony destruction, extending from anterior abdominal wall to gluteal muscles. Imaging features were consistent with an MPNST arising from cauda equina. Histopathological examination of the tumor biopsy showed the presence of spindle-shaped cells with marked nuclear pleomorphism and giant cells. It had increased cellularity and a high mitotic activity, features suggesting a high-grade MPNST. Thus, presentation of MPNST (an extremity sarcoma) and a subarachnoid hemorrhage makes this case a very rare clinical combination.
Patient was closely monitored during the initial period for subarachnoid hemorrhage and received mannitol, acetazolamide, and nimodipine. Unfortunately, the patient's MPNST was inoperable, and he received palliative radiotherapy for local control of the disease. Patient's neurodeficit was persistent at 6 months follow-up and he was dependent on caregivers for his daily routine.


A 52-year-old male patient, who was moderately built and moderately nourished, was complaining of swelling in the right side of the face, involving middle third for the past 2 months. He gave a history of tooth pain in relation to upper right third molar before 3 months, for which he had previously visited a dentist. The pain was diagnosed to be due to acute periapical abscess, and the patient got the tooth extracted under local anesthesia. One month later, the patient developed pain and swelling in the middle third of the face, and he was referred to our institution by a private practitioner for further investigations.
During the day of the presentation, he had throbbing pain, moderate to severe in intensity, which was increasing during the night time. He also gave a history of watery discharge from the nose for the past 2-3 months. His medical history revealed that he was a known type II diabetes mellitus patient, and there was surgical history of appendecectomy 15 years back, without any complication.
On clinical examination, a diffuse swelling was noted extraorally, extending from nasolabial fold to pre auricular region in anterio-posterior direction and from infra orbital region to angle of mandible in superio-inferior direction. The overlying skin surface appeared smooth and shiny, with no ulceration or secondary changes, and bilateral submandibular lymph nodes were palpable. Intra orally, an oval shaped opening, with a diameter of approximately 1 cm was observed in the anterior palatal region []. The underlying bone was seen through the opening, and the surrounding palatal mucosa appeared edematous, with raised, irregular border. His right maxillary central incisor was missing due to mobility and the socket was continuous with the palatal opening. On palpation, foul smelling pus was oozing out from the labial and palatal gingival crevices of maxillary anterior teeth and on palatal mucosa near the opening. Nonhealing extraction socket, with visible underlying bone, was seen in relation to 18, with no bleeding or pus discharge. On radiographical examination, water's view [] revealed haziness in the right maxillary region and perforation in the anterior palatal region. With these clinical details, provisional diagnosis of chronic suppurative osteomyelitis of right maxilla was given.
The incisional biopsy specimen showed extensively necrotized tissue with no features of dysplasia under microscopic examination. Under general anesthesia, the lesion was treated surgically by hemimaxillectomy of the anterior palatal region, accompanied by debridement and curettage of the necrotized tissue. The excised specimens [] were multiple in number, including hard and soft tissue components and were sent for histopathological examination. During grossing, the soft tissues were examined macroscopically, tissue processed, sectioned and stained with hematoxylin and eosin (H and E), periodic acid-Schiff (PAS), Gomori's methenamine silver (GMS) and Ziehl-Neelsen stain. The hard tissues, sent along with the soft specimens were subjected for decalcification and routinely processed, sectioned and stained with H and E stain. H and E stained sections of demineralized bone revealed bony trabeculae with fibrosis and inflamed bone marrow. The bony trabeculae were exhibiting many resting and reversal lines and the osteocytic lacunae were empty in numerous places. On soft tissue examination, highly necrotized tissue was seen under H and E staining. GMS staining revealed fungal organisms, branching at right angles, with large nonseptate hyphae [], along with round to ovoid spores. These hyphae were PAS-positive []. No acid-fast organisms were seen on Ziehl–Neelsen staining. With these histopathological features, the final diagnosis of “chronic osteomyelitis of the maxillary bone with fungal infection (mucormycosis), causing extensive tissue necrosis” was made. The patient's blood glucose level was controlled and monitored by the physician, and antifungal treatment (amphotericin B) was included under medical regime.


A 22-year-old boy reported to the department with the chief complaint of irregularly placed maxillary anterior teeth for which he wanted aesthetic correction. The medical history was noncontributory. Intraoral examination revealed irregular dentition, with generalized spacing, rotated and missing teeth in the upper arch. The permanent anterior teeth are larger in size with different crown morphology of posterior teeth, including prominent cusp of Carrabelle on maxillary first molars and protostylid on mandibular first molars []. The maxillary central incisors and canines (i.e., 11, 21.13, 23) showed the presence of talon cusp []. There was the presence of over-retained left lateral primary incisor while the right lateral incisor was missing []. Among the posteriors, the mesio-palatal cusps of maxillary molars and mesio-lingual cusps of mandibular molars were prominent. The patient exhibited angle's Class I molar relationship. Teeth present in the arch were as follows:
17, 16, 15, 14, 13, 11 … 21, 22, 52, 23, 24, 25, 26, 27. 47, 46, 45, 44, 43, 42, 41 … 31, 32, 33, 34, 35, 36, 37.
The preliminary radiographic examination of the patient (intraoral periapical radiographs and orthopantomogram) revealed tooth anomalies involving majority of teeth. Hence, a CBCT scan of mandibular and maxillary arches for proper diagnosis was advised. The detailed radiographic examination of all the results showed the following observations:
Congenitally missing teeth buds of 12, 28, 38. Dens invaginatus seen in relation to 14, 22, 24, 34, 45. Taurodontism seen in relation to 17, 27, 37, 47 []. All teeth exhibited idiopathic short root anatomy []. External root resorption in relation to 11, 21, 22.
The appearance of developmental anomalies in a large number of teeth of the same patient made it mandatory to rule out any underlying systemic disorder. A detailed family history of the patient revealed that none of his other family members suffered from any similar dental complaints as shown in the pedigree chart []. The patient also reported that he did not have such complaint in the primary set of dentition. The patient was referred to the physician for a thorough medical history, physical examination and growth assessment. The physical examination gave no symptoms of any underlying systemic/genetic disorder. Further blood examination revealed normal blood profile. Endocrinological evaluation showed hormonal levels to be within normal limits. The patient was further underwent cephalometric analysis and conventional karyotyping to definitely rule out any underlying genetic disorder []. The results of these diagnostic aids were within normal limits and hence, final a diagnosis of nonsyndromic case of multiple developmental dental anomalies affecting entire dentition was made. As the patient was mainly concerned with upper anterior teeth, fixed prosthesis fabrication was done to restore aesthetics.


A previously healthy 16-year-old male patient, with no history of ocular disease, presented in February 2013 after sustaining a penetrating glass injury to his left eye (OS). He described an abrupt loss of vision in the affected eye and was first transferred to a hospital where the glass foreign body was removed manually in the emergency department by a non-specialist, which possibly contributed to a further extension of his initial injury. Subsequently, he was found to have NLP vision in his OS on examination. A slit-lamp evaluation revealed a zone III injury (posterior OGI) with broad corneoscleral laceration extending posteriorly. A ruptured lens and protruding vitreous were also noted (fig. ). The patient had a distorted pupil in his OS, which was non-reactive to light (using the indirect ophthalmoscope light at the highest intensity). However, a consensual pupillary reaction was present in his right eye (OD; when light was shone on the injured globe). An initial B-scan at presentation showed a collapsed globe (fig. ). The patient was transferred to the operating room where he underwent surgical repair of the corneoscleral laceration under general anesthesia. The globe was first sutured at the limbus using nylon 10–0 sutures and a further dissection showed an extension of the laceration posteriorly toward the optic nerve. Cornea, sclera and then conjunctiva were all sutured carefully using nylon 10–0 sutures, and an eye patch was carefully placed. Oral ciprofloxacin 250 mg twice per day and prednisone 50 mg once daily were started.
On the first day after surgery, the eye patch was removed and an examination showed a retained globe integrity with cataract formation. The patient was started on topical Zymaxid (gatifloxacin) and Pred Forte (prednisolone acetate) every 2 h.
The patient was noted to have an unchanged globe integrity with rapidly increasing cataract formation when followed up on postoperative days 4, 7, 14 and 30 (fig. ). The topical antibiotic and steroids were kept at 5 times per day from day 7 until day 14 postoperatively. Then, both were tapered and eventually stopped over the following month. At 1 week postoperatively, oral antibiotics were stopped and oral steroids were tapered gradually over 1 month. A follow-up B-scan revealed a flat retina and the patient was scheduled for regular monthly follow-ups. On day 7 postoperatively, the patient was found to have an uncorrected visual acuity (UCVA) in his OS of counting fingers near face with a reactive pupil to light and a normal consensual reflex in his OD. His UCVA worsened over the following follow-up visits as the cataract formation increased.
Two months after the initial surgery, a repeated B-scan showed a flat retina and a clear well-formed vitreous cavity (fig. ); accordingly, the patient was scheduled for cataract extraction. The anterior capsule was partially ruptured and fibrotic secondary to the penetrating injury. Yet, circular capsulorrhexis was managed to be done with the help of VisionBlue® (0.06% trypan blue ophthalmic solution). Phacoemulsification of the cataract was performed successfully, followed by an anterior vitrectomy to remove the protruding vitreous. A posterior chamber intraocular lens was implanted in the sulcus. The procedure was well tolerated and the affected eye was unpatched on the second day. The patient was started on topical antibiotics and steroids and followed up on days 1, 3, 6, 21 (fig. ) and 6 weeks postoperatively during which the topical treatment was tapered gradually.
The patient reported a gradual improvement in his vision after cataract extraction. On the 3rd week after the second surgery, UCVA in his OS was 20/200 and on the 11th week, UCVA improved to 20/50 with a best corrected visual acuity reaching 20/20 with a manifest refraction: plano +1.75 × 45° (fig. ).


A 69-year-old man visited our hospital for palpitation and dyspnea on exertion. The symptoms began four months prior to his visit to the hospital. On physical examination, a rapid heartbeat and friction rub were audible, and a 6-cm linear scar was observed on the right upper chest. Edema of both lower extremities was observed. At the age of 6 in 1950, he was wounded in the chest during a shooting spree by North Korean soldiers during the Korean War. However, at that time he could not visit a hospital and was treated with folk remedies. On the chest X-ray, a bullet adjacent to the right cardiac border and bilateral pleural effusion was noted (). On electrocardiography, he had typical atrial flutter with 2-to-1 atrioventricular conduction, and his heart rate was 150 bpm (). An axial computed tomographic image () showed that the bullet was likely located in the right atrium. Thickening of the pericardium was also observed. A long axis reformatted image () and a three-dimensional volume-rendered image () confirmed that the bullet was located in the epicardial fat and abutted the right atrium at an acute angle. Transthoracic echocardiography during the atrial flutter and sinus rhythm revealed bi-atrial enlargement, thickened pericardium, septal bouncing motion, and significant respiratory variations of the mitral inflow velocity, which were compatible with constrictive pericarditis (). The E/A and E/e' ratios were 4.4 and 8, respectively. The septal e' was higher than the lateral e' (12 cm/sec and 10 cm/sec, respectively). To rule out lead poisoning from the bullet, the patient's blood lead level was checked and lead was undetectable. Atrial flutter and constrictive pericarditis were the suspected causes of the palpitation and dyspnea on exertion. An electrophysiological study confirmed that the atrial flutter was cavotricuspid isthmus-dependent: during the electrophysiological study, fluoroscopy showed that the bullet moved primarily with respiratory movements and partially with heart-beating movements. Moreover, pericardial calcification was also observed adjacent to the coronary sinus. Radiofrequency catheter ablation for ty-pical atrial flutters was performed by a bidirectional conduction block of the cavotricuspid isthmus. One week after radiofrequency catheter ablation, surgical extraction of the bullet and pericardiectomy were performed. In the surgical field, the pericardium was th-ickened and the bullet was severely adhered to the adjacent epicardial tissue (). There were scattered substances around the bullet, which were presumed to be gunpowder. Due to the gunpowder, the pericardium was thickened and stiffened. The rusted bullet was extracted 63 years after the initial gunshot wound. The pathology of the adjacent epicardial tissue showed dystrophic calcification (). After surgery, the patient recovered without complications and there was no echocardiographic evidence of constrictive physiology.