A 33-year-old Hispanic male with no relevant past medical history presented to our hospital with severe right-sided retro-orbital pain with right-sided ptosis and diplopia. The patient was at work 2 weeks prior when the onset of headache occurred. The headache began to worsen throughout the day. The patient went to a different hospital 3 days after onset of pain and was diagnosed with sinusitis and was sent home on antibiotic treatment. The pain continued to progress, and 1 week after onset of pain, the patient began to have ptosis and diplopia. He presented to another hospital where he was diagnosed with a cluster headache and was sent home with pain medications. The patient then visited an optometrist who referred him to an ophthalmologist due to the ptosis and diplopia. The ophthalmologist then urgently sent him to our hospital for magnetic resonance imaging (MRI) and follow-up.
In our emergency room, the patient endorsed deep right-sided retro-orbital pain that radiated down to his neck. He complained of neck stiffness but denied any symptoms of nausea or vomiting, recent upper respiratory symptoms, numbness, tingling, or weakness in any part of the body. He denied any sick contacts, recent travel, or work-related chemical exposures. The patient had no past medical or family history of headaches or migraines. On physical exam, the patient’s right eye was completely closed during initial consult. Adduction of the right eye past midline was limited to 25% of normal, and upward gaze was limited to 70% of normal. However, abduction, downward gaze, and vision were intact. Neurological exam was unremarkable. The patient was started on ketorolac 15 mg IV (intravenous) for pain control.
MRI and magnetic resonance angiography (MRA) were done immediately, and it was determined that corticosteroid treatment would be held until an infectious etiology could be ruled out by lumbar puncture. MRA showed that the A1 segment was hypoplastic with no critical stenosis or aneurysm. MRI findings were suggestive of right oculomotor neuritis with a decrease in size of the right oculomotor nerve, increased surrounding fluid, and mildly increased contrast enhancement. An MRI of the orbit was recommended, which showed mild focal asymmetric enhancement along the lateral wall of the right cavernous sinus just posterior to the orbital apex in the expected location of the right oculomotor nerve (). Calcium level was 8.8 mg/dL, ANA was negative, rheumatoid factor was negative, and erythrocyte sedimentation rate was not elevated. Chest X-ray did not show hilar adenopathy and was unremarkable otherwise. A complete infectious etiology was ruled out, which included the following: Lyme disease, herpes simplex virus, Aspergillus, Coccidioides, West Nile, syphilis, Cryptococcus, Histoplasma/Blastomyces. Complete vital panel was negative. A lumbar puncture was done, and cerebrospinal fluid (CSF) studies revealed normal glucose, normal protein, and one nucleated cell. CSF angiotensin-converting enzyme level was normal. However, a serum angiotensin-converting enzyme level was not checked. CSF cytology was negative; CSF IgG index was normal. Serum and urine protein electrophoresis were normal. The patient was immediately started on IV methylprednisolone 500 mg BID for 3 days. The patient’s pain and ocular movements began to marginally improve within 12 hours of the first dose ().
The patient continued IV steroids, and on day 3, he reported that his pain had completely resolved with significantly improved adduction of the right eye (). The patient was released home on day 4 with almost complete normalization of his right eye adduction. The patient was discharged home on prednisone 60 mg daily for 7 days with follow-up with Neurology.


A 43-year-old Israeli male with diabetes mellitus presented with fever and rash for almost 10 days which occurred while traveling across the country as a tourist. He had started off first with an intermittent fever then myalgia. He continued to have fever and chills associated with night sweats, with the spread of a non-pruritic rash from his hands, trunk, and feet, and worsening myalgia. He had difficulty in ambulating because of prostration. He had recently traveled and his vaccines were up to date. He did not state that he had any history of mosquito bites and his symptoms started even before he left his country. He consulted two physicians without a definite diagnosis. He eventually developed muscle aches and distal weakness in all his four extremities, which then prompted consult to the hospital. Upon further inquiry of travel or tick bite exposure, the patient revealed that he works in the Israeli military with dogs that are used to search an underground passage for people before collapsing the tunnels. He claimed that he pulled ticks off the dogs.
A physical examination revealed a fever of 101.5°F, a diffuse maculopapular rash on his body including his palms and soles but sparing the head and neck (Figure ), and a 1 cm round black eschar with surrounding erythema noted below the umbilicus (Figure ). He had diffuse tenderness on palpation of his four extremities. Hemogram, comprehensive metabolic panel, chest radiograph, and cerebrospinal fluid analysis were unremarkable. Serological tests to detect Anaplasma phagocytophilum, Ehrlichia chaffeensis, Babesia microti, rapid plasma reagin, lyme disease, West Nile virus, dengue virus, Epstein-Barr virus, parvovirus, and human immunovirus antibodies were all negative.
Based on the patient’s history, dermatological findings, and epidemiologic disease prevalence in Israel, we suspected MSF and started him on doxycycline. He improved significantly with lysis of fever, resolution of body malaise and extremity weakness, and improvement of his skin lesions. The Rickettsia conorii IgG came back positive. Informed consent was obtained from the patient for this study.


A 13-year-old girl was referred to the diagnosis service of the Faculty of Dentistry of Universidad Andres Bello, Viña del Mar, Chile, because of increased mobility of her upper front incisors and the occurrence of a white spot on her upper lip. She previously attended a private clinic where they performed root canal treatments on the upper left lateral and central incisors. She reported no systemic diseases and no family history of similar diseases.
Clinical examination showed a hypopigmented white line on the skin of the left side of the upper lip, which continued through the vermilion and the lip mucosa, including the gingiva in relation to the upper left lateral and central incisors. Both teeth had a small gingival recession (Fig. A-C), increased mobility and were slightly intruded, causing an anterior open bite. X-rays revealed advanced vertical alveolar bone loss (Fig. A,B), while buccopalatal sections of computerized axial tomography (CAT) showed loss of the buccal alveolar ridge of both teeth. Linear white lesions of ≈1cm were also present on the dorsal and ventral surfaces of the tongue. An incisional biopsy of the affected labial mucosa was performed. Histopathological analysis of the area showed a marked thickening of collagen in the lamina propia, associated with a perivascular lymphomonocytic infiltrate and a strong presence of eosinophils. (Fig. A,B).
The blood analysis, including a complete blood count, biochemical profile and serum levels of complement C3 and C4 were found normal. ENA, ANA and ANCA antibodies were negative. Echo-Doppler ultrasound showed the left facial and labial artery lumen diameters to be diminished by 50% compared with the right side arteries.
The patient was diagnosed with localized scleroderma (morphea). In collaboration with rheumatology consultants, an initial treatment of prednisone 15 mg/day, methotrexate (MTX) 20 mg/week (intramuscular) and folic acid 5 mg daily after the dose of MTX was given. The patient reported no adverse side effects.
The drug therapy described above was maintained for 15 months. No other lesions appeared during this period and the existing ones underwent no change or became smaller (Fig. D). The patient is currently (before the submission of this case) on a regular dose of MTX 2.5 mg/week, and 5mg/day of folic acid on the methotrexate-free days. No adverse side effects have been reported so far.


A seven-year-old boy reported to our clinic with the chief complaint of multiple decayed teeth. The child was a known case of global developmental delay with seizure disorder. There was no familial history of any neurological problem. Due to the developmental delay in speech, language, and cognition, a thorough oral examination was not possible. The child's behavior was categorized as definitely negative according to Frankl's behavior rating scale. Since the child's ability to cooperate was limited due to presence of GDD additionally the child was a known epileptic, the dental treatment was planned under chairside general anesthesia. After obtaining necessary consents and clearance from the department of pediatrics and anesthesiology the child was scheduled for dental rehabilitation under chairside general anesthesia (). Oral examination under general anesthesia revealed mixed dentition with multiple decayed teeth and poor oral hygiene (). The dental treatment including oral prophylaxis, pit and fissure sealant (Clinpro Sealant, 3M ESPE) application on all the permanent first molars, the Glass ionomer cement (Fuji IX) restorations of the carious primary second molars, and bifluoride varnish (VOCO) application was done under general anesthesia ().


A six-year-old male child was referred by his pediatrician for dental treatment of decayed teeth. He was a known case of global developmental delay since the age of two years as his parents found that his milestones like walking and speech were delayed. Mother gave the history of her son who had difficulty in learning at school. He was attending special school and also was being rehabilitated at center for children with neuromuscular disorders. Upon review with his pediatrician we learnt that he had a mild degree of developmental delay and predominance in the development of speech and communication but was rehabilitated enough to vocalize in English fairly well. Frankl's behavior rating for this child was positive. On examination the carious lesions were present on the primary molars and maxillary incisors (Figures and ). Oral prophylaxis was accomplished with behavior management and physical restraining. However owing to uncontrolled tongue movement and instable jaw movements the restorations including stainless steel crown placement were done under oral sedation with Pedicloryl (dosage: 0.5–1 mg/kg) (Figures and ). APF gel was applied as a preventive protocol. The patient was advised to use powered toothbrushes for maintaining oral hygiene. He was reviewed periodically at every 3 months interval.


A 27-year-old woman (gravida 1, para 1) was admitted to the labor unit of our hospital due to the spontaneous rupture of the membranes and painful uterine and regular contractions at 40 weeks’ gestation. The course of the present pregnancy was uneventful, with insignificant family medical history and without personal pathological antecedents except for hemangiomas, located at the level of the liver and superior lip, chronic constipation, and homozygous mutation of PAI genes, detected after a first trimester screening, that revealed a high resistance in the uterine artery flow, followed by low-dose Aspirin administration until 36 weeks of gestation. Clinical exam revealed a 3 cm dilatation locally, cranial applied presentation with loss of opalescent amniotic fluid. Paraclinical, on admission, the value of hemoglobin was 13.2 g/ dl, white blood cells count 14.02*103/ µl and normal parameters of coagulation with no signs of genital or urinary tract infection. Labor progressed relatively precipitated, the patient spontaneously delivering a 3300 grams boy with the 1-minute Apgar score 10, within 3 hours and 30 minutes. A third (3a) degree perineal rupture resulted in moderate vaginal bleeding. The placenta was completely delivered with minimal blood loss. After the suture of the perineal rupture and the provided hemostasis, the patient presented a good general condition and a normally contracted uterus with no abnormal blood loss. Two hours after the delivery, the patient complained of severe pelvic and low abdominal pain, palpitations, sweating, and tachycardia. On examination, the teguments appeared pale, the uterus well contracted with no excessive vaginal bleeding. On palpation, the abdomen was soft, without any signs of peritoneal irritation, but vaginally posterior and proximal; a tender formation was palpable ascending the cervix. The presence of the palpable hypoechogenic perirectal 6,5/ 3,5cm structure was objectified on ultrasound, suggesting the diagnosis of perirectal hematoma ().
Paraclinical, the value of hemoglobin was 9.9 g/ dl and white blood cells 35.8 *103/ µl. The urine was clear on the urinary probe. A surgical reintervention was decided with the dissolution of the past suture, the eviction of the hematoma, drainage and the reapproximation of the laceration area. Post operatory, the patient was admitted in the intensive therapy unit, with the constant monitoring of the vital parameters, successive blood analyses and a large spectrum antibiotic therapy being instituted. Despite the expectations, the general status of the patient continued to deteriorate. A computerized tomographic (CT) scan revealed the presence of a retro rectal and pelvic retroperitoneal hematoma with the axial dimensions of 102/ 65 mm and craniocaudal diameter of 100 mm, with a non-iodophilic, clear delimitation from surrounding organs, and no evidence of active perineal or pelvic bleedings. Intraperitoneally, there seemed to be a significant quantity of fluid, predominantly pelvic and minimally perihepatic disposed, with no sanguine density aspects ().
Ten hours post intervention, the laboratory’s findings included a decreasing value of hemoglobin, of 6.4 g/ dl, white blood cells count of 21.0*103/ µl, platelets count of 79*103/ µl, creatine kinase isoenzymes (CKI) of 687 U/ L superimposed on the patient’s general state of illness; blood pressure was of 140/ 80 and her pulse was of 110 bpm. An emergency diagnostic and therapeutic laparotomy was decided and applied. Intraoperatively, a retroperitoneal retro rectal hematoma was noted, extended through the mesosigmoid under the sigmoid colon serosa. After the dissection of sigmoid and rectum nearby pelvis floor without finding any active source of bleeding, despite the general necrotic aspect of these segments (), an expectant attitude was decided considering the positive response of the intestinal wall on the instillation of lidocaine hydrochloride 1% and repeated cold peritoneal lavage ().
The surgery had an uneventful course, the patient being hemodynamically and respiratory stable all the time. The patient received sanguine transfusions, platelet mass, large spectrum antibiotic therapy, pain relievers, and also anti-inflammatory therapy in the intensive care unit. The evolution was favorable during the next days, transit for gases being resumed in the following 24 hours and for faeces in the next 48 hours. The patient was discharged in 10 days after the intervention, the sonographic evaluation of the pelvis prior to discharge revealing a normal-looking uterus and ovaries with no findings suggesting the presence of a residual hematoma.


The patient was a 62-year-old man. Twelve years previously, he had undergone CABG for angina pectoris and a bypass between the right coronary artery and the RGEA had been constructed. Six years previously, he had been referred because of difficulty swallowing. He was diagnosed as having achalasia and treated with nicardipine hydrochloride and balloon dilatation in the Gastrointestinal Medicine Department of our hospital. He was referred to our surgical department again because he remained symptomatic, and we were consulted about surgical treatment for achalasia. Gastrointestinal endoscopy showed dilatation of the whole esophagus and food residues within it (Fig. ). A barium esophagogram showed dilatation and meandering of the esophagus and delayed flow of barium into the stomach (Fig. ). Enhanced computed tomography (CT) showed also dilatation of the esophagus and meandering of the lower esophagus (Fig. ). Three-dimensional CT angiography showed the right gastroepiploic artery running to the right coronary artery (Figs. and ). Esophageal manometry showed failure of the lower esophageal sphincter to relax and absence of the first peristaltic wave (Fig. ). Based on these findings, a decision was made to perform surgery.
We discussed the surgical procedure with cardiac surgeons preoperatively and ordered them to back up, considering the possibility of re-anastomosis at the time of the damage of the graft and the onset of cardiovascular complications. Additionally, we prepared papaverine hydrochloride against the graft spasm.
We also discussed the operative procedure in detail. It was expected that there is adhesion of intraperitoneal tissue because of the previous surgery. We could not deny presence of adhesion of the RGEA bypass graft and abdominal wall through the preoperative examination. Therefore, we decided to perform laparotomy in view of a risk of the graft damage at the time of the port insertion. Additionally, because it took time to cope with damage of the graft in laparoscopic surgery, we selected laparotomy after discussion with cardiac surgeons.
An oblique incision was made below the left costal arch in order to avoid the adhesion because of the previous surgery. The extent of adhesion was mild. Searching intraperitoneal at the time of laparotomy, we identified the RGEA graft wrapped by soft tissues due to palpation. The RGEA graft ran along the left edge of the round ligament of the liver and reached to the heart via the ventral and lateral side of the liver. We performed surgical procedure so as not to damage this graft while checking the graft beats by palpation appropriately. Especially when we operated the cardiac region, we performed carefully because we needed to retract the liver to secure the visual field. The second assistant dedicated to observation around the graft. After dissecting around the hiatus esophagus, the abdominal esophagus was pulled up by using a vessel tape and as much dissection as possible was performed around the cranial esophagus. The dilated esophagus was then pulled caudally and straightened under observation by gastrointestinal endoscopy (GIS). The vagal nerves, including the hepatic branch, were preserved. Myotomy was performed for 6 cm on the esophageal side and 2 cm on the gastric side (Heller myotomy) and dilation of the narrow segment observed via GIS. Having recognized that the fornix was mobile, a Dor fundoplication was performed. Additionally, two shoulder stitches were placed in the crus of the diaphragm. Finally, straightening and dilation of the esophagus was confirmed by GIS. The RGEA was not damaged during the procedure, and no fluctuation in circulatory dynamics or electrocardiographic changes occurred. On postoperative day 3, he started drinking water and on day 5 started feeding. His postoperative course was good, and he was discharged on day 12. Two months later, a barium esophagogram showed that the failure of the esophagogastric junction to relax had improved and barium was flowing smoothly into the stomach after deglutition. Postoperative esophageal manometry showed the stillness pressure of the esophagogastric junction had decreased, confirming the therapeutic effect of the operative procedure. At present, his symptoms are adequately controlled.


A 39-years old male had a low back pain without any particular cause, following chest pain, right hip pain, and bilateral foot pain. One year after these symptoms, he experienced enlarging elastic soft masses in plantar side of the right hallux (Fig. ). He had no remarkable family history of metabolic bone diseases. He was 172.6 cm tall and 63.8 kg weight (Body mass index = 21.4 kg/m2) at the time of his first visit. Laboratory testing of serum samples revealed normal calcium level of 9.3 mg/dl (normal range: 8.7-10.3 mg/dl), low phosphorus level of 1.9 mg/dl (normal range: 2.5-4.5 mg/dl). Alkaline phosphatase was elevated as noted to be 1245 U/l (normal range: 115–359 U/l). Serum level of FGF23 (215 pg/ml) was at least 4-fold higher normal range (normal range: 10–50 pg/ml). Urine testing revealed an elevation in phosphorus concentration coincident a reduction in tubular phosphate reabsorption. Plain radiographic images showed cystic radiolucent shadow in right fourth metatarsal bone, left third and fourth metatarsal bone, and in right pubis (Fig. ). Bone scanning revealed an increased uptake in the bilateral rib, right pubis, bilateral tarsus, right fourth metatarsal bone, left third and fourth metatarsal bone (Fig. ). Enhanced MRI showed that three soft tissue tumors were presented along with right flexor hallucis longus muscle tendon and one tumor in right first distal phalanx (Fig. ). Taken together, this case was diagnosed as TIO and these tumors were expected to be responsible for overproduction of FGF23. To ascertain our diagnosis, systemic venous sampling for the measurement of FGF23 was conducted. Of note, serum concentrations of FGF23 in right common iliac vein and in right external iliac vein were higher than other veins (Table ). These data indicated that tumors in right hallux detected with MRI were responsible for the osteomalacia. Thereafter, tumors of flexor tendon were resected with the wide margins. Tumor of distal phalanx found in adhesion section of flexor tendon was easily excised from surrounding bone. Histological examination of the three tumors located on flexor tendon showed oval-shaped mesenchymal cells densely populated in fibrous background. Moreover, osteoclast-like giant cells and histiocytes were sparsely found in these tumors associated with multifocal haemorrhage and hemosiderin deposition. Mitotic activity and necrosis were absent (Fig. , ). On the other hand, the tissue excised from distal phalanx consisted of hyaline cartilage and bone tissue showed no tumor (Fig. , ).
The serum level of FGF23 dramatically decreased to be 47 pg/ml and phosphorus level returned to normal (3.9 mg/dl), within one hour after the surgery. Serum concentration of FGF23 became 10 pg/ml one day post-operation. Moreover, systematic pain was gradually improved, and disappeared two months after surgery.


A 46-year-old male visited the emergency department of our hospital on April 23, 2015 due to fever and headache for three days and impaired memory for half a day. The patient had experienced fever three days before, with a peak body temperature of 38.5 °C. No other discomfort was described. He had visited other hospitals before and was diagnosed with an upper respiratory infection based on haematological findings. However, his condition did not improve after treatment with intravenous levofloxacin. Within a half a day, he developed impaired memory, concomitant with speech disturbance, poor response, no significant limb movements and convulsions before being referred to the emergency department of our hospital. The patient had no medical history. No histories of food and drug allergies were obtained. The patient denied any prior history of smoking, heavy drinking or drug abuse. On arrival, the initial physical examination revealed the following: body temperature 38.0 °C, pulse 100 beats/min, respirations 26 breaths/min, blood pressure 144/76 mmHg, delirium, speech disturbance, equal size and round shape of bilateral pupils with diameters of approximately 3.0 mm, sensitive to light reflex, basically normal cranial nerve examination, limb muscle strength Grade V, negative bilateral pathological signs, and no ataxia. The patient’s neck was soft, and there were no signs of meningeal irritation. No significant findings were found on the cardiopulmonary and abdominal examinations. No skin rashes or bleeding sites were observed after examining the entire body. The laboratory test results were the following: haematology: white blood cells (WBC), 12.5 × 109/L, neutrophil percentage, 87.6%; C-reactive protein (CRP), 56 mg/L; procalcitonin (PCT), 2.8 ng/mL; and D-dimer, 3.2 μg/mL. A chemistry panel and screens for infectious diseases and cardiac markers were generally normal. No abnormal findings were observed on chest X-ray or electrocardiogram. Brain computed tomography (CT) showed a curved high-density mass at the left sylvian fissure area and an ischemic lesion of the left temporal lobe (Fig. ).
As an emergency diagnosis, massive cerebral infarction (probable atherosclerosis of the left internal carotid artery system) was considered, and intracranial infection could not be excluded; appropriate treatments included aspirin for anti-platelet aggregation, atorvastatin for lipid regulation and plaque stabilization, and cefuroxime and acyclovir for anti-infection.
The patient experienced aggravated unconsciousness after two hours of admission, and physical examination showed the following: lethargy, aphasia, equal size and round shape of bilateral pupils with diameters of approximately 3.0 mm, sensitive to light reflex, shallow right nasolabial folds, immobilization of right limbs upon orbital pressure, movable left limbs, positive right pathological signs and negative left pathological signs. Further revascularization therapy was considered, and the patient was immediately transferred to undergo brain magnetic resonance imaging (MRI). On the way to the radiology department, the patient experienced further aggravation of unconsciousness and entered a light coma, concomitant with limb seizure, gazing to the left of bilateral eyes, equal size and round shape of bilateral pupils with diameters of approximately 2.0 mm, and disappearance of the light reflex. Appropriate treatments included midazolam for epilepsy, mannitol for dehydration and intracranial hypotension. After termination of the seizure, re-examination of the brain CT showed a curved high-density mass at the left sylvian fissure area and a massive low-density area in the left temporal lobe with many high-density plot areas scattered within it. CT images also showed compressed deformation of the left ventricle and a shift of the brain midline to the right (Fig. ). Considering that the patient developed haemorrhagic transformation, he was admitted to the emergency intensive care unit for further management.
Eighteen hours after admission, the patient experienced further aggravation of unconsciousness and entered a moderate coma, concomitant with high fever (body temperature 39.9 °C), bilateral pupils: left versus right = 5.0 mm versus 3.0 mm, respectively, disappearance of the light reflex, increased muscle tone of the right limbs, and positive pathological signs of bilateral limbs. The brain CT re-examination showed expansion of the bleeding area, with overt signs of brain herniation. The patient underwent emergency left frontal temporal craniotomy, removal of the intracranial hematoma and a decompressed craniotomy performed by neurosurgeons. The intraoperative findings were as follows: dark red appearance of the left temporal brain tissue, concomitant with subarachnoid haemorrhage (SAH); an ostomy of approximately 0.2 cm was created along the left temporal sulcus; a visible purple blood clot was observed, concomitant with surrounding contused brain tissues; and a large vascular embolization could be observed in the hematoma cavity. Approximately 10 mL of the hematoma and contused brain tissues were removed and sampled for pathological evaluation. Histopathological examination showed haemorrhage, oedema and inflammatory changes in brain tissues, neutrophil infiltration into the vascular walls and surrounding tissues, and microvascular purulent thrombosis (Figs. –). The patient was transferred to the neurologic intensive care unit for further treatment after the operation. During the course of the treatment, negative findings were found for Chlamydia pneumoniae, mycopsslasma, influenza, tuberculosis, the TORCH panel, hepatitis B, hepatitis C, syphilis and human immunodeficiency virus (HIV); the sputum culture was negative, and the blood culture suggested Staphylococcus aureus. No abnormal findings were found on chest X-ray or ultrasound. In addition, two transthoracic echocardiography (TTE) examinations were normal, and there were no observations of valvular dysfunction or neoplasm. The following final diagnosis was considered: massive cerebral infarction, consistent with haemorrhagic transformation (the left internal carotid artery system, inflammatory thrombus), Staphylococcus aureus sepsis and symptomatic epilepsy. After two months of vancomycin anti-infective treatments and supportive and symptomatic treatment, the consciousness of the patient improved gradually, and several blood cultures were negative. He underwent rehabilitation and was discharged from the hospital on the 72nd postoperative day (POD). At discharge, his Glasgow Coma Scale (GCS) was E4V4M6, and the modified Rankin scale score was 3.


A 75-year-old Japanese man was referred for sudden asymptomatic gross hematuria. Ultrasonography and abdominal X-ray suggested bladder calculus, and computed tomography (CT) was performed. CT showed intramural right ureteral calculus (1.8 cm in diameter) and a well-circumscribed hypervascular mass measuring approximately 2.1 cm at the right trigone of his urinary bladder (Fig. ). Hydronephrosis was absent in bilateral kidneys. We then performed a cystoscopy to confirm the bladder mass. Examination revealed a non-papillary nodular mass located at the right trigone (Fig. ). The mass appeared to be completely covered by normal urothelium, suggesting a submucosal tumor. The mucosa was elevated behind the mass; however, we were unable to confirm the right ureteral orifice and calculus preoperatively. Since CT showed the mass to be adjacent to the calculus, the tumor may have interfered with the discharge of the calculus. No invasive growth was observed by magnetic resonance imaging (Fig. ). Urine cytology was negative for malignant cells. We then performed transurethral resection (TUR) of the mass. Following resection, we confirmed right ureteral orifice and intra-ureteral calculus. As a result, we performed transurethral lithotripsy. Our patient recovered without perioperative complications and has remained free of recurrence for 5 months.
On gross examination, the resected surface of the mass specimens was solid, firm, and tan-white to yellow without apparent necrosis and hemorrhage.
On histologic examination, the urothelium was largely denuded; however, residual urothelium showed no atypia. In the submucosal lesion, we observed spindle-shaped to oval-shaped cells that had mildly hyperchromatic nuclei and eosinophilic elongated or tapering cytoplasm arranged in loose fascicles or perivascular whorls around often-hyalinized blood vessels or in a vague storiform-growth fashion, embedded in variably fibromyxoid or edematous stroma associated with dilated thin-walled blood vessels (Fig. ). Mitotic figures are rare. On immunohistochemical examination, the tumor cells were positive for alpha-smooth muscle actin (SMA), desmin, CD34, and h-caldesmon, and CD99 was weakly and focally expressed (Fig. ). The cells were negative for S-100, CAM5.2, AE1/AE3, epithelial membrane antigen (EMA), STAT6, MUC4, and claudin-1.


A 42-year-old male, occasional drinker, presented to neurosurgery department with complaint of dizziness, seizures, and loss of consciousness since 20 days. He was afebrile, nonhypertensive, and nondiabetic. His hematological, serological, and biochemical investigations were found normal, except for raised SGPT (ALT) enzyme (62 IU/L). Thereby, further investigations were performed.
Magnetic Resonance Imaging was done, which showed morphological left ventricle (LV) on right side, small in caliber; morphological right ventricle (RV) on left side with myocardial hypertrophy; aorta rising from RV; and mildly dilated pulmonary artery rising from LV (). Findings of MRI were of concern for echocardiography. 2D echocardiography established the presence of congenitally corrected transposition of great arteries (CCTGA) (). Findings of echocardiography correlated with MRI. Moreover, grade 1 left ventricular diastolic dysfunction, mild pulmonary regurgitation, mild tricuspid regurgitation (TR), mild mitral regurgitation, and low heart rate with AV dissociation were noted during echocardiography. Ejection fraction was 64%. Electrocardiography depicted third-degree atrioventricular block (AV block) and heart rate of 37 beats per minute ().
CCTGA with third-degree AV block, right ventricular hypertrophy, and low heart rate indicated implantation of permanent pacemaker into the patient. Permanent pacemaker implantation of VVI mode was done through left subclavian approach under local anesthesia (). Extrathoracic subclavian vein puncture was done. A 58-1888 screw-in lead was placed in the left ventricular apex. A pulse generator was connected. Lead parameters were acceptable. The incision was closed in layers after checking the lead position. Procedure was uneventful and well tolerated by patient. The placement of pacemaker reverted normal heart rate and postimplantation ECG depicted AV block dissociation (). His condition is favorable at eight months' follow-up.


A term 28-day-old male, born at home, was referred by the family midwife to the emergency department for ecchymosis of his left hemiscrotum. This exclusively breastfed infant, without significant family history, had been thriving at home when the parents noted acute discoloration of his right testicle at 26 days of age. In the 24 hours prior to admission, the discoloration of his right testicle migrated to the left testicle. His parents reported that he had become progressively fussy with decreased oral intake and appeared more pale. The parents denied increased work of breathing, fevers, apnea, cyanosis, emesis, or rash.
The parents stated that he had been previously healthy. Prenatal care was provided by a midwife, and prenatal labs were reported as negative. A prenatal ultrasound performed at home by the midwife at mid-gestation was reported as normal. Pregnancy was uncomplicated, as was his spontaneous vaginal delivery. The infant did not receive vitamin K prophylaxis at birth, though his mother was taking oral vitamin K, a prenatal vitamin, and herbal supplements daily. The baby was taken care of by his parents, who were Mennonite. There was no consanguinity. The baby's father had flu-like symptoms the week of his admission; otherwise there had been no known sick contacts.
On arrival to the newborn intensive care unit, the infant appeared lethargic, pale, and jaundiced and had evidence of oozing from peripheral IV attempts. His left hemiscrotum was purpuric; otherwise, there was no evidence of bruising or petechiae. He had increased work of breathing with retractions and had a normal cardiac and abdominal exam. He had no dysmorphic features and other than lethargy had an appropriate neurological exam. An anterior-posterior (AP) chest X-ray () performed in the emergency department demonstrated marked enlargement of the cardiothymic silhouette, which prompted further evaluation. An echocardiogram revealed a large anterior mediastinal mass with bilateral pleural effusions. A complete metabolic panel was positive for a mild indirect hyperbilirubinemia (TSB 10.1, DB 0.4; normal range TSB <11.5 mg/dL, DB 0–0.6 mg/dL) and negative for metabolic acidosis or transaminitis. A complete blood count and coagulopathy studies were significant for anemia (Hgb 8.4, Hct 24.2, normal range Hgb 10.5–14.8 g/dL, Hct 30.0–40.9%), mildly low platelets (143,000, normal range 150–500 103/μL), a markedly abnormal prothrombin time (greater than 80, normal range 13.2–16.5 seconds), a profoundly abnormal partial thromboplastin time (greater than 250, normal range 29–48 seconds), and a normal fibrinogen (376, normal range 150–400 mgs/dL). Based on the severely abnormal coagulation studies, the patient was treated acutely for suspected vitamin K deficiency related bleeding. The patient received three IV doses of vitamin K, packed red blood cells (60 mL/kg total), fresh frozen plasma (15 mL/kg), and platelets (15 mL/kg). Within 6 hours, the infant's hematologic indices normalized and his clinical bleeding resolved.
Despite resolution of the coagulopathy, the anterior mediastinal mass remained. The differential diagnosis included venous or lymphatic malformations, thymic enlargement, or rarer tumors. Therefore, further diagnostic imaging of the anterior mediastinal mass was pursued. A chest ultrasound revealed a solid mass without cystic components, making an infantile lymphangioma unlikely. A CT of chest/abdomen/pelvis () demonstrated a homogeneously enhancing anterior mediastinal mass which maintained thymic contour, with mass effect upon the vessels and airway. The homogeneity of the mass was thought to be inconsistent with the typical appearance of a germ cell tumor. While the infant's coagulopathy and borderline thrombocytopenia initially raised concern for Kasabach-Merritt phenomenon (KMP), no significant vascularity was demonstrated on the CT imaging, making the diagnosis of kaposiform hemangioendothelioma with associated KMP less likely.
The infant underwent ultrasound-guided biopsy of his mediastinal mass on the hospital day following admission once his coagulopathy had resolved. This biopsy was critical in making the diagnosis of spontaneous thymic hemorrhage. Representative histology of the mass is shown in . The patient's tissue was consistent with normal thymic ultrastructure with Hassall's corpuscles noted and slightly increased in number compared to normal tissue. Cytokeratin staining was performed and showed no increase in intensity or aberrant distribution, ruling out the differential diagnosis of thymoma. Many red blood cells were noted in the tissue sample, and the biopsy specimen was grossly bloody as noted by the proceduralist. Flow cytometry revealed immunophenotype of immature T cells consistent with normal cortical thymocytes. In light of these pathologic findings as well as the medical history and clinical response to vitamin K and FFP, the final diagnosis for this patient was thymic hemorrhage secondary to vitamin K deficiency, with possible component of thymic hyperplasia. The patient's respiratory distress resolved over a few days and he was discharged home on hospital day #7 with follow-up by his general pediatrician.


A 39-year-old black multiparous female, 27 weeks pregnant, reported a 2-month
evolution of pruritic papules on her lower back. She denied similar episodes in her
previous pregnancies (G3 P2 A0) and previous treatments. Physical examination
revealed grouped erythematous papules, some of which were pustular, and others
showed central crusts in the lumbar region ( and ). An incisional biopsy was
performed on one of the lesions on the lower back. Histopathology showed epidermis
with mild psoriasiform acanthosis, dermis with wedge-shaped inflammatory infiltrate
consisting of small and medium-sized mononuclear cells, located around the vessels
and in the topography of hair follicles (). Discrete leukocytoclasia and cells with slightly beveled cores were
also found (). Immunohistochemistry was
positive for myeloperoxidase, HAM56, lysozyme, and CD3. The changes found were
consistent with pruritic folliculitis of pregnancy. Benzoyl peroxide was prescribed,
but the patient opted to not take medication during pregnancy. The lesions regressed
spontaneously about one to two months after delivery.


We report a 63-year-old woman with a few months' history of cutaneous lesions on her
trunk and extremities. Histopathological analysis of the lesions revealed lichen
sclerosus et atrophicus (LSA), which were treated with topical corticosteroids.
Personal and family history was unremarkable. Our first examination revealed
multiple, disseminated, hypopigmented and hyperpigmented atrophic and sclerotic
plaques on her trunk and extremities. The patient presented a 6x8cm fragile,
hemorrhagic bulla within an atrophic plaque on her lower back (). We performed an incisional biopsy of the bulla that
revealed epidermal atrophy, a subepidermal blister with marked edema of the
papillary dermis and homogenization of collagen (). Blood count, biochemical parameters and coagulation studies
were within the normal range. Immunological analyses revealed positive (1:160)
antinuclear antibodies (ANAs) by indirect immunofluorescence (Hep-2-cells)
(homogenous pattern), and negative anti-ssDNA, anti-dsNA, anti SSA/Ro,Scl-70 and
anti-SSB/ La. IgG and IgM (EIA) antibodies were negative for Lyme's disease. Chest
X-ray, abdomen ultrasound and gynecological examination showed no pathological
findings. The patient was initially treated with doxycycline 100 mg/ day and locally
applied 0, 5% clobetasol. The bulla resolved within three weeks, but new hemorrhagic
bulla appeared in the same place together with painful, non-hemorrhagic bullae on
both gluteal regions (). Chloroquine
was administered in daily doses of 250 mg. After a month, we observed some
improvement of the skin lesion and resolution of the bulla on the back, but soon
after, new multiple hemorrhagic bullae appeared on the trunk ( and ). We
observed no erosion healing on the sites of previous bullae in the gluteal regions,
where shallow, painful ulcers were formed. The patient refused the advised
hospitalization and further follow-up appointments.


An 81-year-old fit and healthy gentleman presented with severe right-sided hip pain on 22 January 2015. He had an uncemented right metal-on-metal hip replacement carried out in 2008 (see ). At presentation he denied any relevant past medical history. He was not on any regular medications. He drinks 5–10 units of alcohol a week and does not smoke. Two days prior to his admission, he had a prolonged dental root canal treatment for a pulp infection at his dental surgery without antibiotic prophylaxis. His oral health was otherwise good. No cultures were taken at the time to confirm the presence or absence of Granulicatella adiacens in the oral cavity.
On physical examination the only pertinent physical findings were that he had a temperature of 38.5 °C with a swollen and erythematous right hip joint. His blood results on admission showed C-reactive protein (CRP) 12.9 mg l−1, white blood cells 17.6×109 l−1, and neutrophils 16.11×109 l−1. A blood culture taken on the day of admission did not grow any organism. An ultrasound-guided aspirate of his right hip (see ) revealed thick purulent fluid. Empirically benzylpenicillin (1 g every 6 h) and flucloxacillin (2 g every 6 h) were started. The direct Gram stain showed many pus cells and Gram-positive cocci in chains. The isolate did not grow on blood and chocolate agar, but did grow on anaerobic plates and was identified as Granulicatella adiacens by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) (Bruker) with a score value of 2.185. Antibiotic sensitivities were analysed by the disc diffusion method according to the British Society for Antimicrobial Chemotherapy (BSAC) guidelines and yielded the following sensitivities: erythromycin (resistant), vancomycin (sensitive) and penicillin (sensitive). There was no co-infection with Staphylococcus aureus.
On the fourth day of admission, an open washout and debridement of the right hip was undertaken. Pus was noted within the joint with some tracking at the metal–bone interface of the stem anteriorly and proximally. However, the stem was very well fixed with no loosening. Two tissue specimens were sent for culture and no organism was isolated after a long incubation. As the organism was isolated from only the initial aspirate specimen, the antibiotics were changed to a regimen with wide coverage: intravenous vancomycin (500 mg every 12 h) and piperacillin with tazobactam (4.5 g every 8 h), and oral fucidic acid (500 mg every 8 h).
The inflammatory markers showed a steady decline and the patient improved symptomatically. He was then sent home and prescribed six weeks of outpatient antimicrobial therapy (OPAT) but he was re-admitted after a month for an urticarial rash due to an adverse drug reaction. In addition, he also had several temperature spikes and therefore underwent a second surgical exploration and washout the following day and another five days later. Intra-operatively the soft tissues and joint showed no evidence of infection, no organism was seen on Gram stain and no microorganism was isolated from the tissue samples on both occasions. Considering the adverse drug reaction, the antibiotic regimen was changed to daptomycin (60 mg once daily) and meropenem (2 g every 8 h) and used to complete his six-week course of IV antibiotics. His second time hospitalization lasted a period of 10 days in total.
The patient made a good recovery with a resolving rash, a C-reactive protein of 18 mg l−1, a normal white cell count, and a fully healed wound. He was referred to a regional Bone Infection Unit for consideration of a two-stage revision hip replacement. Seven weeks following his second hospital discharge and prior to his revision surgery, he was admitted with cough, shortness of breath and raised inflammatory markers (C-reactive protein 312 mg l−1, white cell count 22×109 l−1). He was diagnosed with severe community-acquired pneumonia and succumbed to the infection three days later. The pathogen that caused the community pneumonia was not identified.


In 2014, a 70-year-old man was admitted to a private hospital with complaints of asthenia and night fever. Empirical treatment of urinary tract infection was in progress with ciprofloxacin 500 mg twice a day outpatient, with no clinical answer. The patient also had previous diagnoses of chronic kidney disease, benign prostatic hyperplasia, chronic ischemic stroke and Alzheimer’s disease.
On admission, pulmonary and abdominal computed tomography (CT) scans were performed. Left inferior lobe consolidation and a small pleural bilateral effusion () were identified. There was also a fecaloma, promoting abdominal distention.
The primary diagnosis was lung sepsis, and the patient was admitted to an intensive care unit (ICU). Urinalysis, urine culture, haemogram, haemoculture and C-reactive protein (CRP) dosage were made. A few hours after ICU admission, empiric antibiotic therapy was started. The initial regimen of antibiotic was piperacillin-tazobactam 3.375 g intravenously three times a day. After seven days on this regimen, the patient still presented a high leucocytes count and increasing levels of CRP. Unfortunately, both blood and urine cultures were negative. Facing this clinical scenario, the medical team chose to change antibiotic and perform another pulmonary CT scan. Empirically, meropenem 1 g twice a day was started to replace piperacillin-tazobactam. The latest pulmonary CT scan showed a worsening of pleural effusion and intense pleural bleeding in the left lung. Despite the change of the antibiotic regimen, and its use for a week, clinical improvement was not observed. The patient still had a fever, respiratory distress and haemodynamic instability. At this point, another diagnostic measure was attempted: a surgical pleuroscopy. During this procedure, both pleural effusion and its fragments were obtained for microbiology screening.
Materials obtained by pleuroscopy were inoculated on blood agar plates (5 % desfibrinated sheep blood), chocolate agar with Vitox (PlastLabor) and in a BD BACTEC anaerobic test bottle (Becton Dickinson). All plates were incubated for 48 h at 37 °C, under aerobic and capnofilic atmosphere. The blood culture was positive seven days after inoculation. Gram stain of this culture revealed the presence of Gram-positive spore-forming rods. The flask was sent to the Laboratory of Anaerobes Biology at Universidade Federal do Rio de Janeiro (UFRJ), where it was inoculated on 5 % sheep blood agar plates supplemented with 5 mg l−1 haemin and 1 mg ml−1 menadione. The plates were incubated in the COY glove box (Coy Laboratory) and revealed translucid, β-haemolytic, smooth, circular, yellow-pigmented colonies after incubation for 48 h. Two analyses were conducted for the identification of the sample: (i) phenotypical tests () () and (ii) mass spectrometry (MS) by MALDI-TOF BioTyper System (Bruker Daltonics). Tests indicated a strain of C. baratii. Additionally antimicrobial susceptibility patterns and MIC values were determined by the ETESTstrips (bioMérieux) and were used to breakpoints standardized by the Clinical and Laboratory Standard Institute (). For quality control, clinical isolates, namely Bacteroides fragilis ATCC 25285 and Staphylococcus aureus ATCC 29213, were used in parallel for each incubation. The following antibiotics were tested: vancomycin (MIC 0.38 µg ml−1 – sensitive), metronidazole (MIC 0.30 µg ml−1 – sensitive), clindamycin (MIC 0.38 µg ml−1 – sensitive), ertapenem (MIC 0.006 µg ml−1 – sensitive) and imipenem (MIC 0.094 µg ml−1 – sensitive).
Genotypic characterization was done in the Veterinary School of the Universidade Federal de Minas Gerais. Total bacterial DNA was extracted using the commercial kit QIAamp DNA mini kit (QIAGEN) according to the manufacturer’s instructions. Amplification and sequencing of the 16S rRNA gene were performed according to a previously described method (). PCR products were purified using a Wizard PCR Preps DNA purification system (Promega) and sequenced using forward and reverse primers. Sequencing reactions were performed using a BigDyeTerminator v3.1 cycle sequencing kit (ThermoFisher) and run on an ABI 3730XL genetic analyzer (ThermoFisher). The 16S rRNA gene sequences were compared with those of reference strains in the GenBank database of the National Center for Biotechnology Information () using the BLASTN computational tool and nucleotide sequence identity ≥98 % was used as the criterion for species identification. Together, all tests showed that the organism was C. baratii. The detection of botulinum toxin using PCR () and bioassay in mice () was negative.
After diagnosis, metronidazole 500 mg three times a day intravenously was started and within 24 h the patient had no more fever. One week later, chest radiographs and clinical symptoms had improved.


A 72 year old male with no previous history of malignancy was seen in the urology clinic at the local site for complaints of flank pain. On intravenous contrast enhanced computed tomography (CT) of the abdomen and pelvis, imaging revealed a 5.7 cm solid enhancing mass from the lateral aspect of the right kidney, suspicious for renal cell carcinoma (RCC) (Fig. ). There was no renal venous invasion or pathologic retroperitoneal lymphadenopathy identified. Two months later, the patient underwent a right laparoscopic radical nephrectomy.
Pathology report noted the right nephrectomy specimen contained a focally yellow well-circumscribed lesion on the upper pole. The histologic and immunohistochemical profile of this lesion, including positive for RCC marker, was typical for CCRCC. The tumor measured 5.5 cm in the greatest dimension and was limited to the kidney, giving a pathologic staging of pT1b and International Society of Urological Pathology (ISUP) Grade 2. Interestingly, the tumor contained a 3 mm focus of a lesion staining positive for Thyroid Transcription Factor-1 (TTF1), Thyroglobulin, and was negative for RCC marker (Fig. ). This finding led to the diagnosis of a tumor-to-tumor metastasis of PTC to CCRCC. The gross specimen was reexamined and further tissue was submitted, but no other foci were identified.
A subsequent ultrasound and CT of the head and neck revealed a heterogeneously hypodense 3.3 cm mass in the right thyroid lobe, with multifocal coarse and stippled calcifications, continuous with the overlying strap muscles (Fig. ). There were also three right paratracheal nodes directly inferior to the mass, the largest measuring 6 mm. Given the confirmation of right sided thyroid mass on imaging and the immunohistochemistry proven focus of thyroid metastasis within the nephrectomy specimen, a preoperative FNA biopsy was not deemed necessary. The patient underwent a total thyroidectomy and level VI neck dissection. As indicated by imaging, there was extracapsular extension into the strap muscles and involvement of the first two tracheal rings posteriorly. Additionally, the lesion extended into the superior thyroid vein and lateral border of the internal jugular vein, which was excised after suture ligation. Intraoperative nerve monitoring demonstrated the recurrent laryngeal nerves were intact bilaterally.
Pathology revealed a classic variant multifocal PTC with two foci measuring 7.0 and 0.3 cm (Fig. ), a more accurate representation than the pre-operative CT Head and Neck which noted difficult visualization due to beam hardening artifacts from the shoulders. The level VI neck dissection yielded two ipsilateral lymph nodes positive for metastatic PTC, with no regional metastasis on the contralateral side. Ultimately, the thyroid specimen was positive for lymphatic vascular invasion, extrathyroidal extension with invasion of the tracheal cartilage. Therefore the tumor was staged T4aN1aM1. Postoperatively, the patient received radioiodine-131 ablation at a 150 mCi dose for remnant thyroid tissue ablation. The patient tolerated the therapeutic ablation without complications, and subsequent CT imaging and bone scan revealed no evidence of recurrent disease or metastasis. Thyroglobulin and TSH levels were 4081.0 pmol/L and 232.2 mIU/L respectively. On recent three month follow up the patient was recovering well and without signs of dysphagia or dysphonia. Laryngoscopy demonstrated mobile bilateral vocal cords.


We present the case of a 10 years old male child with a history of fall from a tree and landing on his right outstretched hand. He presented at our centre one hour after the injury with pain and swelling of the right elbow. On examination the overlying skin was intact, with bruises in the antecubetal fossa, swelling, deformity and tenderness of the elbow. Brachial, radial and ulnar arteries were not palpable. The extremity was cold with a poor capillary refill. There was no sensory or motor loss.
Radiography showed posteromedial dislocation of the elbow (, ). No blood flow was detected beyond the elbow with Doppler ultrasound (U/S).
Elbow was reduced with closed reduction maneuver i.e. elbow flexed, arm suppinated and inline traction. Patient had repeated examination of the peripheral pulse to assess vascular status but no pulse was palpable. Parents were briefed about the situation and informed consent obtained. In the operation theatre the elbow was opened via an anterior approach with curvilinear incision. There was a hematoma and soft tissue oedema and the brachial artery was found transected at the proximal border of pronater teres, with the ends of the artery lying 5cm apart (). The artery was repaired using ipsilateral reverse cephalic vein graft using 6/0 polypropylene sutures (). The elbow was found to be stable after reduction with no evidence of ligamentous injury. A posterior splint was applied with the elbow flexed at 90°. ()
Post reduction radiographs were found acceptable. The splint was removed at two weeks. At one year follow up the patient was having good volume pulses in the radial and ulnar arteries, full range of elbow motion without any instability.


A 30-year-old Asian woman diagnosed as having PCOS underwent ovulation induction therapy with CC 100 mg tablet daily for 5 consecutive days from day 5 to 9 of her menstrual cycle. On the fourth day of commencing the treatment, she developed visual disturbances and characteristically described them as noting same color afterimages of non-illuminated objects, shadow of a person moving in front of her, some kind of flash on moving from a poorly illuminated zone to a strongly illuminated zone, and some waves in vision in broad daylight. The symptoms would occur five to seven times in a month. The duration of these visual symptoms would last for approximately 5 to 10 minutes. Her symptoms would gradually reduce after she completed her treatment course for 5 days. Her symptoms were not accompanied by other ocular symptoms such as pain, redness, photophobia, or decrease in vision. She gave no past or family history of migraine. A second course with ovulation induction therapy again with 100 mg CC was prescribed to her in the following month. She developed similar visual symptoms 4 days after starting the treatment. She conceived after taking two cycles of CC. One year post-delivery, she visited an ophthalmologist at a tertiary eye hospital with complaints of persistence of symptoms; although the severity and frequency of symptoms were much less than when she was under treatment with CC. On ophthalmic examination, her best-corrected visual acuity in both eyes was 6/6, N6. Anterior and posterior segment examinations of both eyes were normal. Brain magnetic resonance imaging (MRI) was normal. A probable diagnosis of CC-induced illusory palinopsia was made. She was counseled regarding her condition and was asked to follow-up at a regular interval of every 6 months.


The patient was a 28-year-old man with a huge, necrotic, erythematous inflamed lesion on the glabella, nasal dorsum and paranasal area. On physical exam, the lesion was not tender or warm, did not have pulsation and the margins were vague. The patient first noticed the lesion when he was 9 years old. At the beginning, it had been an erythematous lesion in the nasal area which enlarged over time and used to bleed with patient’s manipulation (). No concomitant vascular lesion or family history of arterio-venous malformation was found. The patient did not receive any treatment until 20 years of age, when he was visited in another center and undergone sclerotherapy by bleomycin, after which he says the lesion enlarged.
At age 28, he was visited in our center (). MRI and CT-scan was performed which revealed a soft tissue mass without bone or cartilage involvement. CT-angiography showed a high-flow vascular lesion. Color Doppler reported a vascular lesion with dilated vessels. Stage 1: A size 90 tissue expander was inserted in the forehead area. Supratrochlear artery was identified by color Doppler and included in the flap region. Expansion was done for 10 weeks until the desired size was achieved ().
Stage 2: Embolization was done to reduce the size of the lesion and the risk of bleeding. However, no obvious change in the size, color or consistency of the lesion was noticed. Stage 3: After 48 hours the lesion was excised. Before excision, two rows of deep sutures were applied around the lesion to reduce the risk of bleeding. The feeding vessels of AVM were ligated and the lesion was completely excised off the bone and cartilage and the wound was left open ( and ).
Stage 4: After another 48 hours the patient was taken to the operating room again. The wound was irrigated. An extended forehead flap on the base of supratrochlear artery was designed and rotated to cover the defect site. The donor site was closed primarily ( and ). The patient did not need transfusion during surgery or after it and he did not show any complication over 3 months post-operative follow up ( and ).


A 27-year-old African American male with a history of morbid obesity status post-Roux-en-Y gastric bypass 9 years prior presented with painful nonbloody mucoid diarrhea, icterus, and dark urine of four-day duration. He described recent travel with family to a beach resort in the United States during which he noted that two family members had developed a self-limited diarrheal illness. Three days after exposure, he noted abdominal cramps followed by hourly watery yellow stools without blood. He also had intermittent nausea and an episode of bilious vomiting and reports not eating since onset of diarrheal illness. He noticed a 17-pound weight loss over 1 week. He had no fevers, chills, or rash. There was no preceding history of eating uncooked fish or meats and he had no tick exposure. Medication history included Lisinopril and Amlodipine, and he denied any new medications or alcohol use. He admitted to homosexual intercourse.
He was acutely ill-looking with icteric sclera and dry mucus membranes. Vitals signs showed low-grade fever of 100.2°F and pulse rate of 126 beats per minute. Cardiac, lung, and skin examinations were unremarkable. Abdomen was diffusely tender with hyperactive bowel sounds without peritoneal signs.
Laboratory data was remarkable for leukopenia of 2200/μL, hemoglobin of 12.7 g/dL, normal platelet of 158,000/μL, sodium of 128 meq/L and potassium of 3.2 meq/L, acute kidney injury with creatinine of 1.59 mg/dL (baseline of 0.63 mg/dL), BUN of 41 mg/dL, and anion gap of 19. After intravenous hydration, hemoglobin dropped to 10.1 g/dL and platelet to 96,000/μL. Sodium, BUN, and creatinine also improved with rehydration. He was also noted to have elevated transaminases AST 201 IU/L and ALT 73 IU/L, elevated total bilirubin of 8.2 mg/dL, direct bilirubin of 4.4 mg/dL, normal alkaline phosphatase of 66 IU/L, albumin of 3.2 g/dL, normal lipase of 40 U/L, and elevated lactate of 3.5 meq/L. INR was elevated to 1.8; however, he had normal haptoglobin 236 mg/dL (36–195 mg/dL) and LDH 177 IU/L (normal: 94–202 IU/L). Hepatitis panel was negative. Patient also tested negative for HIV, CMV, EBV, and Parvovirus B19 infection. Tylenol level was normal. Urinalysis showed moderate bilirubinuria. Stool study was positive for Shigella sonnei but was otherwise negative for bacteria, ova, or parasites. Rickettsia rickettsii IgM was positive and he was treated with Doxycycline. Other workup for tick-borne infection including Lyme, Babesia, Ehrlichia, and Anaplasma was negative. Autoimmune workups including ANA, antismooth muscle, liver/kidney microsome, and mitochondrial antibodies were negative. Alpha-1 antitrypsin and ceruloplasmin were also normal.
Abdominal ultrasound showed a diffusely increased heterogeneous liver echogenicity with underlying hepatomegaly consistent with hepatic steatosis. Hepatoportal duplex showed patent portal vein and hepatic artery. Computed tomography of the abdomen and pelvis was significant for hepatic steatosis, hepatomegaly, mild right colitis, and absence of gallstones. Magnetic resonance cholangiopancreatography (MRCP) was unremarkable with normal intra- and extrahepatic biliary tree.
During his hospital course, bilirubin trended up to 9 mg/dL and INR peaked at 2.9. Patient was not encephalopathic. Given impending hepatic failure, recommendation was made to transfer the patient to a transplant center but he declined. He was treated with N-acetylcysteine. Blood culture initially reported as Gram-negative rods presumptively Escherichia coli (E. coli) was later confirmed to be Shigella sonnei. Urine culture remained negative. He was treated with ciprofloxacin based on sensitivity results with an improvement in diarrhea frequency and downward trend in transaminases. He remained stable and was discharged home on Day 8. He was doing well 4 months later with normal cell counts, normal liver, and kidney function.


The first case is a 24-year-old Caucasian male that sought medical attention for priapism 24 hours after his erection began. He has a past medical history of stuttering priapism and idiopathic thrombocytopenic purpura diagnosed three years earlier but in remission according to his hematologist. His only previous surgery was a splenectomy. He was taking no medications at the time.
In the emergency room he received an intracorporal aspiration and injection of phenylephrine (500 µg/mL) with no detumescence. A corporal blood gas was collected which showed the following: pCO2, 89 mmHg (normal = 32–43); pO2, 32 mmHg (normal = 83–108); pH 7.20 (normal = 7.37–7.44). He was taken to the operating room where bilateral Al-Ghorab shunts were performed. In the recovery unit, he had recurrence of his erection. The patient was then transferred to our facility for further management.
His physical exam on arrival revealed a persistent erection and with pain and he was taken to the operating room. Dark venous blood was drained from his corpora. A corpora cavernosal shunt (T-shunt) with tunneling was performed using #8 Hegar dilators. Detumescence was obtained intraoperatively. The procedure was completed and the patient was transferred to the PACU without complication, yet immediately postoperatively he again became erect. A corporal blood gas was taken, with the values consistent with a high-flow state: pCO2, 47 mmHg (normal = 32–43); pO2, 106 mmHg (normal = 83–108); pH 7.27 (normal = 7.37–7.44); and 98% 02 saturation. He was observed and discharged on post-op day 2, but he continued to have an erection for approximately three weeks without pain. He was seen at 6 weeks post-op and he was having normal erectile function.


The second patient is a 33-year-old African American male with sickle cell disease who presented to a referring emergency room in a methamphetamine-induced psychotic state. While on a psychiatric hold in the ER, he developed an erection with some associated discomfort. Besides sickle cell disease, the patient's medical history includes anxiety, depression, opioid dependence, marijuana, cocaine, amphetamine, benzodiazepine, and opioid abuse, splenic autoinfarction. He has a 16-pack year smoking history and used illicit drugs twice weekly. His surgical history includes 2 Winter shunts in 2010 and 1 T-shunt in 2012. The patient has suffered from episodes of stuttering and ischemic priapism one to two times monthly for the past two years but noted a higher frequency of episodes over the past three months. These have usually resolved with intracorporal injections of phenylephrine that were somewhat painful. He finally agreed to be treated almost 24 hours later and received intracorporal injections of phenylephrine (0.5 mg/mL) bilaterally every few minutes. After the injection, there was no improvement of his condition. A corporal blood gas was collected and the values were as follows: pCO2, 84 mmHg (normal = 32–43); pO2, 39 mmHg (normal = 83–108); pH 7.21 (normal = 7.37–7.44).
He was taken to the operating room where a T-shunt was performed. There was minimal drainage on incision. A #8 Hegar dilator was used to dilate the corpora, irrigating a small volume of arterial blood with some mild improvement in his erection. Within 10 minutes of finishing the procedure the erection returned. A corporal blood gas was collected at that time and the values were as follows: pCO2, 45 mmHg (normal = 32–43); pO2, 105 mmHg (normal = 83–108); pH 7.35 (normal = 7.37–7.44). The patient was observed in the hospital for a week while being treated for his other medical issues. His erection resolved after 10 days and he was still having erectile function at 6 weeks post-op. The patient was seen in another hospital 2 months later and had a T-shunt and tunneling for priapism and had a similar erection in the recovery unit and was taken back to the operating room without a repeat blood gas for a proximal shunt. He later developed a urethral injury from his proximal shunt.


The first patient was an 11-year-old girl, the first child of healthy consanguineous Iranian parents (). She was delivered by an elective cesarean section after an unremarkable pregnancy. The first signs and symptoms of disorder have been detected in the second year of life after she was noticed because of unsteady gait and frequent falls. Mild developmental delay had been noticed afterwards. Her cognition progressively worsened and she lost expressive speech at the age of 6. On physical exam, she had dystonia, dysarthria, dysphasia, spasticity and hyperreflexia. She was unable to walk without aid. Serum biochemistry test including serum ferritin, albumin, ceruloplasmin, copper, creatine kinase and liver function test were normal. Furthermore, urine organic acid panel was normal. Brain MRI showed decreased signal intensity of globus pallidus on either side. Magnetic resonance spectroscopy revealed signal void abnormality in globus pallidus compatible with spectrum of iron deposition disorders.


On 14 July 2016 (day 1), a 44 year-old male patient was admitted to the hospital with tinnitus, malaise, vomiting, muscle aches, and headache, that had started on 8 July. Shortly before symptom onset, starting on 25 June, he had also experienced a short episode of malaise and fever, from which he recovered spontaneously. A week before the first symptoms, he had been bitten by a tick, without having developed erythema migrans. The patient lives in the Sallandse heuvelrug area in the eastern part of the Netherlands, where tick-borne encephalitis virus (TBEV) had been detected in ticks in 2016 []. He maintains a garden in which he frequently encountered ticks. He also reported frequent outdoor activities such as running and walking in the area where he lived. Six weeks before the first symptoms, he had travelled to Bad Salzungen in Thuringia, Germany, for 2 days, but did not reside in a wooden area, and was not bitten by ticks. He was vaccinated against yellow fever in 1996 but not vaccinated against TBEV. The patient did not report any consumption of unpasteurized milk products in the month before illness onset.
Physical examination revealed no abnormalities. Laboratory tests showed signs of inflammation: C-reactive protein (CRP): 45 mg/L (norm: <10 mg/L); leukocytes: 10.4 x 109/L (norm: 4–10 mmol/L). A slightly lower haemoglobin (Hb) concentration (7.8 mmol/L; norm: 8.5–11.0 mmol/L) possibly indicative of an infection ongoing for some time. The result of the thorax X-ray examination was normal.
The dehydrated patient was hospitalised with differential diagnosis being gastroenteritis, borreliosis, or a bacterial infection. Ceftriaxone therapy intravenously (2 g per day) was initiated. On day 2, his condition did not improve, and an overt mental slowness became evident as well as a tremor in both hands, with concurrent loss of strength.
Lumbar puncture was performed and cerebrospinal fluid (CSF) analysis revealed leukocytosis (99 x 106/L (norm: <5 x 106/L); 85% mononuclear cells; 15% polynuclear cells (norm: <6%); glucose and protein concentrations of 3.3 mmol/L (norm: 2.2–3.9 mmol/L) and 1,101 mg/L (norm: 250-800 mg/L) respectively. The working diagnosis now was a meningoencephalitis, possibly caused by a virus, or neuroborreliosis. Acyclovir, intravenously 3 mg/kg, 3 times per day, was added to the treatment regimen.
ELISA tests on both CSF and serum did not elicit Borrelia-specific antibodies. Nucleic acid detection of various potential pathogens in the CSF turned out negative (). Due to a report by the Dutch National Institute for Public Health and the Environment (RIVM), on 30 June 2016, of the first time detection of TBEV in ticks in the Sallandse heuvelrug region [], serum was investigated for TBEV-specific antibodies. Pending the results, doxycycline, 100 mg twice per day, was added to the regimen, because rickettsiosis could not be excluded at the time. A brain magnetic resonance imaging (MRI) was performed, showing an enlargement and staining of the dura mater, which may suggest viral meningitis.
On day 7, the results of the TBEV serology confirmed the following: anti-TBEV IgM and IgG were detected in serum with the ELISA method, suggesting a recent TBEV infection (). Also, the CSF turned out positive for anti-TBEV IgG and borderline positive for anti-TBEV IgM. The antibiotics and acyclovir were stopped. By day 9 the patient gradually improved. However, the tinnitus persisted.
The ELISA results were confirmed with a virus neutralisation assay, by the Department of Virology of the Medical University Vienna, Austria. A second serum sample taken on 8 August showed an increase in virus neutralising antibody titres (from 1:10 to 1:480), which is proof of an acute infection.


A 30-year-old primigravida (G1P0) white woman was referred to the Colorado Fetal Care Center (CFCC) at 22 weeks and 5 days’ gestation following a 16-week US obtained at another facility that demonstrated monochorionic-diamniotic twin pregnancy with signs of duodenal obstruction, polyhydramnios, and excess fluid in the esophagus of twin B. Her medical history was negative for hypertension and diabetes, and negative for thyroid, heart, lung, or kidney disease. There was no prior blood transfusion, hepatitis, or urinary tract infection. She denied any significant exposures to tobacco, alcohol, drugs, radiation, or hazardous chemicals during the pregnancy. Her surgical history was negative; she denied any congenital anomalies or chronic conditions. The same is true for the father of the pregnancy. She was taking prenatal vitamins but no other medications. A dual sac amniocentesis was performed yielding a 46,XY karyotype and normal chromosomal microarray analysis (CMA) results for each twin. An obstetrical US at CFCC revealed normal cervical length and normal growth and anatomy for twin A. Twin B, however, showed polyhydramnios with a deepest vertical pocket (DVP) of 11.1 cm, markedly enlarged stomach with thickened echogenic walls, and moderate ascites (Fig. ), and a cystic structure posterior to the heart (Fig. ). Ultrafast fetal magnetic resonance imaging (MRI) demonstrated a dilated lower esophagus that fluctuated in size on successive images over the course of the examination (Fig. ). Furthermore, a hiatal hernia was also noted which also fluctuated in size (Fig. ). The MRI confirmed the US findings of ascites; however, it provided detailed anatomy to diagnose gastric perforation by identifying rupture of the gastric wall (Fig. ). Although antenatal cases of DA usually manifest with a large stomach bubble, gastric distention in combined pure EA and DA is more significant than in DA alone, which is attributed to the accumulation of secretions within this closed loop []. The first duodenal segment was dilated with an abrupt cut-off at the level of the second–third segments (shown in Fig. ). Fetal echocardiography demonstrated small left heart structures, hypoplastic aortic arch with intermittent flow reversal in the aortic isthmus, and persistent left superior vena cava (SVC) to a dilated coronary sinus with possible coarctation of the aorta. Similar to the US findings, a large fluid-filled structure was identified posterior to the heart causing a mild mass effect on the left atrium.
Our patient and her husband were counseled at a multidisciplinary family team meeting including review of the pertinent images, explanation of the development and natural history of all findings, discussion of the surgical management of the various anomalies, and possible management options for the pregnancy. The complex nature of the anomalous twin’s case was explained in detail regarding the complicated EA repair in the setting of DA and gastric perforation and the possible need for multiple-stage repairs of the hypoplastic left heart anatomy. The family was counseled regarding various management options including: (1) continuation of pregnancy with possible amnioreduction for symptomatic relief, (2) pregnancy interruption, (3) comfort care at delivery, and (4) selective reduction of pregnancy using radio frequency ablation with amnioreduction. They opted to proceed with selective reduction. After obtaining an informed consent, an US-guided radiofrequency ablation (RFA) of the cord of the anomalous twin was performed at 23 weeks’ gestation using 100 watts of power targeting the abdominal cord insertion site []. Two treatments were applied with confirmation of complete cessation of blood flow in the cord with no cardiac activity. Throughout the procedure the normal co-twin had a reassuring fetal heart rate and middle cerebral artery Doppler evaluation. Our patient had an uneventful continuation of her pregnancy. At 37 weeks 4 days she went into spontaneous labor. The fetus demonstrated some variable decelerations prompting a vacuum-assisted delivery. She gave birth to a healthy 3.4 kg baby with Appearance, Pulse, Grimace, Activity, and Respiration (APGAR) scores of 8 and 9. A placental biopsy revealed a 522 gm placenta fused disc that was greater than the tenth percentile for gestation with unequal shares favoring twin A (80/20). Twin A had a three-vessel cord with no abnormality and twin B had a two-vessel cord with marginal insertion. The villus tissue of twin B demonstrated infarction and degeneration. No autopsy of Twin B was performed due to the interval between RFA and delivery, and the remains were cremated precluding further genetic studies. At the time of submission of this manuscript, the neonate is 9-months old and doing very well with no concerns.


A 65-year-old woman with type 2 diabetes mellitus was admitted with left ventricular failure and accelerated hypertension (blood pressure of 180/100). She was a known case of ischemic dilated cardiomyopathy (DCM) with severe left ventricular (LV) dysfunction and long standing AF with fast ventricular rate (). Chest film showed pulmonary venous hypertension; two-dimensional transthoracic echocardiography showed dilated chambers with global systolic dysfunction with ejection fraction (EF) of 30%. Treatment was initiated with intravenous nitroglycerine infusion and frusemide. Subsequently, her blood pressure and failure symptoms were brought under control. During hospital stay, she developed profuse diarrhoea followed by severe hyperkalemia (serum potassium 8.3 mEq/L). Her complete blood count, renal and liver parameters were normal. Arterial blood gas analysis showed compensated metabolic acidosis.
She was promptly treated with intravenous calcium gluconate, insulin dextrose infusion and salbutamol nebulisation. Serum potassium levels normalized to 5.4 mEq/L. ECG was repeated the next day, which showed sinus rhythm at 64 beats per minute. The patient was discharged on control of her failure symptoms after 5 days of hospital stay with aspirin, ACE inhibitors, low dose loop diuretics, beta blockers, digoxin and eplerenone. She had a CHADS-VASc score of 3 and was started on lifelong oral anticoagulation with warfarin to maintain INR of 2-3. ECG done at discharge and at 1 month follow-up revealed that the patient maintained normal sinus rhythm ().


A 41-year-old woman with no prior medical history visited our hospital for further evaluation of abnormal findings on two-dimensional transthoracic echocardiogram (TTE) performed during a routine health check-up examination. The patient showed mild dyspnea on ordinary physical activity with New York Heart Association class II and her physical examination was normal with a heart rate of 65 beats per minute and blood pressure of 110/60 mmHg. Initial electrocardiogram showed lower voltage complexes and chest roentgenogram revealed normal cardiac size with calcification of the pericardium (, arrows). On TTE, there were multiple spindle-like extensive calcifications in myocardium (, arrows). Left ventricle (LV) had normal chamber size (50 mm at end-diastole and 32 mm at end-systole) and wall dimensions (inter-ventricular septal wall thickness: 9 mm and LV posterior wall thickness: 9 mm) and systolic function measured as 64%. Mitral annular and aortic cuspal calcifications were not seen on TTE. Tissue Doppler imaging revealed that E’-velocity of the septal mitral annulus was 8 cm/s indicating constrictive physiology (). TTE did not show significant valvular regurgitations or stenoses of more than mild grade. We performed 128-slice multi-detector CT, which demonstrated heavy eggshell calcification of the pericardium encircling the heart (). She refused open cardiac surgery and has been followed up with outpatient clinic visits.


A 32-year-old Asian woman received a successful two-antigen mismatched deceased donor renal transplant. She underwent Alemtuzumab and Methylprednisone induction. The immediate posttransplant course was uncomplicated. She was discharged with a nadir serum creatinine of 0.9 mg/dL. Immunosuppression consisted of Mycophenolic acid delayed release (MMF) 720 mg twice daily and Tacrolimus therapy (target trough 9–12 ng/mL). Three months after transplant the patient developed elevated liver enzymes associated with fever of 102°F. Initial blood cultures, CMV, parvovirus B-19 and EBV by quantitative polymerase chain reaction were negative. Computed tomographic imaging studies (CT) revealed periaortic lymphadenopathy (). Liver biopsy revealed noncaseating granulomas and no evidence of posttransplant lymphoproliferative disorder (). Para-aortic lymph node biopsy revealed acid fast bacilli which were confirmed to be Mycobacterium tuberculosis (MTB) by nucleic acid amplification test and culture (). Review of pretransplant records revealed that the patient developed a 5 mm induration on tuberculin skin testing. Based on a history of prior administration of the BCG vaccine and a completely normal radiograph of the chest, the decision to forego Isoniazid prophylaxis against latent TB was made. Treatment was begun with Isoniazid 300 mg daily, Rifampin 450 mg daily, Ethambutol 800 mg daily, and Pyrazinamide 1000 mg daily. Her immunosuppression was reduced to maintain target Tacrolimus trough levels of 6 ng/mL and MMF was decreased to 180 mg twice daily. Resolution of symptoms occurred after initiation of therapy and reduction of immunosuppression. Five months after initiation of therapy the patient developed fever, weight loss, back pain, and weakness. CT scan demonstrated multiple lobulated peripherally enhancing fluid collections within the iliopsoas muscles as well as within the left hepatic lobe, most suggestive of abscesses (). Empirical intravenous Ampicillin/Sulbactam was initiated at 3.1 grams every 8 hours. She underwent drainage of fluid collections, and gram stain, and cultures were obtained. Gram stain and acid fast stain of fluid revealed multiple neutrophils and no organisms. Fluid cultures revealed no growth of bacteria or MTB. The diagnosis of IRIS was established, corticosteroids were not administered, and the patient was maintained on two-drug anti-TB therapy consisting of Rifampin and Isoniazid. During the course of therapy, she was rehospitalized for fever of unknown origin.
Fever, abdominal pain, and fullness slowly resolved over the course of therapy. Repeat CT imaging of the abdomen revealed resolving iliopsoas fluid collections (). After 4 months of 4-drug regimen, the patient was continued on Rifampin and Isoniazid. The patient finished one year of antituberculosis therapy and has remained symptom-free with a functioning allograft. This patient received lymphocyte depleting induction with Alemtuzumab and her immunosuppression was reduced after the diagnosis of active TB. As IRIS may occur in the setting of treatment for TB and immune reconstitution, the time course of her illness and her total lymphocyte count are displayed ().


A 7.8-year-old female patient first presented to our pediatric endocrinology clinic with a diagnosis of type 1 DM, bilateral sensorineural deafness, and bilateral optic atrophy. The patient had been on insulin therapy for 10 months. Her parents were first cousins. Pancreatic autoantibodies including anti-glutamic acid decarboxylase antibody, anti-insulin antibody and anti-islet cell antibody, as well as thyroid and celiac antibodies were all negative.
When she was 10.4 years old, the patient was diagnosed to have partial central DI, detected by the water deprivation and desmopressin challenge test (DCT). At this time, the anterior pituitary gland was found to be of normal size and structure on cranial magnetic resonance imaging (MRI). Genitourinary tract ultrasound (US) revealed bilateral mild pelvicalyceal dilatation and severe distension of bladder. Post-void residual urine was 73 mL (high for age), and there was no sensation of urination indicating neurogenic bladder. Sublingual desmopressin replacement therapy was initiated.
Sequence analysis of the WFS1 gene was performed, and a previously known homozygous splicing mutation (c.460+1G>A) was found in intron 4 (,,). Her parents were heterozygous for the same mutation.


An 8-year-old female patient was referred to our pediatric endocrinology clinic with symptoms of diabetic ketoacidosis. Her mother and father were first cousins. Her father has been suffering from bilateral deafness.
In further evaluations, pancreatic, thyroid, and celiac antibodies were found to be negative. Due to the continuation of polyuria and polydipsia in a state of normoglycemia, DCT was performed. A diagnosis of central DI was considered. Urodynamic examinations showed incomplete emptying of the bladder. Bilateral mild pelvicalyceal dilatation was detected in urinary US.
At age 10 years, the patient presented with complaints of decreased visual acuity and loss of color vision. Optic nerve atrophy was detected on ophthalmoscopy and optical coherence tomography. Left-sided sensorial D was detected by audiometry.
Genetic analysis identified a previously known homozygous missense mutation (c.1885C>T) in exon 8 (,,,,). Both her parents were heterozygous for the same missense mutation.


A 12.4-year-old female patient presented to our pediatric endocrinology outpatient clinic with a diagnosis of type 1 DM and a left-sided cataract diagnosed at ages 3 years and 12 years, respectively. Her parents were first cousins. Her maternal cousin had type 1 DM, DI, ataxia, and end-stage chronic renal failure due to neurogenic bladder and hydronephrosis. Another cousin had also type 1 DM, DI, and neurogenic bladder.
Left- and right-sided cataract surgery was performed at ages 12.5 and 13 years, respectively.
At age 16 years, partial central DI was detected by DCT. Bright spot was not present on the imaging of neurohypophysis by MRI. Bilateral sensorineural D was detected by audiometry. At age 19 years, bilateral OA was detected by routine ophthalmoscopic examination. When she was 20 years old, gabapentin was prescribed because of bilateral neuropathic pain along the peroneal nerves. Antidepressant therapy was given for a state of minor depression. Grade 2 hydronephrosis was detected when the patient was 24 years old.
Genetic analysis of the WFS1 gene revealed a novel homozygous missense mutation in exon 8. Homozygous T to A exchange at nucleotide position 2534 (c.2534T>A) leads to an isoleucine to asparagine exchange at codon 845 (p.I845N) (). Her mother and father were heterozygous for the same mutation. Her maternal cousins did not agree to a genetic analysis.
Clinical features and genetic analysis of the patients are shown in .


A 68-year-old Hispanic female, with a previous diagnosis of arterial hypertension on Enalapril treatment, obesity with BMI of 35 and bilateral knee osteoarthritis. The patient received left primary total knee arthroplasty in December 2008, and right primary total knee arthroplasty in March 2010. She had an upper respiratory tract infection 3 weeks prior to hospital admission without receiving any antibiotic therapy. She debuted in March 2013 with right knee erythema, edema, local hyperthermia, and increasing pain on engaging in any type of movement. On admission, the patient had a fever of 38.2 °C, blood pressure of 110/80 mmHg, and a pulse rate of 96 beats/min, she denied taking antibiotics or having food poisoning previously. Laboratory examinations revealed a hemoglobin level of 14.5 g/dL, a platelet count of 281,000/ lL, and a white-cell count of 25,400/lL, and C-Reactive Protein (CRP) of 65 mg/dL (0–6 mg/dL). A plain knee radiograph showed gas absence or prosthesis loosening (Fig. ). Arthrocentesis puncture was performed and Gram-positive cocci were seen; however the cell count could not be performed because the sample coagulated. Surgical debridement was performed, finding the presence of pus and necrotic tissue at vastus medialis; as well as curettage to obtain bloody weaving and properly consistency at the periphery of the prosthesis, which did not present loosening. Once observed revitalized tissue, three litters of saline solution with gentamicine were irrigated. The liner was changed. Three samples of periprosthetic tissue were obtained and transported immediately to the laboratory. All samples showed Gram-positive cocci in the initial Gram stain. The biopsy specimens were inoculated in conventional culture media and, after 24 h, there was the growth of an organism. The colonies were white, raised, and small on 5% sheep blood agar (Fig. ). Identification was carried out using the VITEK®2 (bioMérieux, Marcy L’Etoile, France) system, which yielded the result of a L. mesenteroides. Biochemical tests were performed as recommended in the literature []; briefly, we conducted confirmation of resistance to Vancomycin on Mueller–Hinton agar; gas production was observed from glucose, which did not grow in bile esculin media and which presented arabinose and mannitol assimilation. The broth microdilution susceptibility assay was carried out in Mueller–Hinton agar with lysed horse blood employing the American Type Culture Collection (ATCC) strain 29,213 as positive control; the latter exhibited susceptibility to Penicillin and Ampicillin with MIC 0.062 μg/mL and 0.5 μg/mL, respectively. 16S recombinant RNA (rRNA) gene sequencing was performed on bacterial cultures. DNA was extracted using the QIAmp DNA Minikit method (Qiagen, Ltd., West Sussex, UK) according to the manufacturer’s instructions. Amplification of the bacterial 16S rRNA gene was performed by real-time PCR in a Light-Cycler instrument (Roche Diagnostics, Mannheim, Germany). The DNA sequence was determined with a sequence analyzer (ABI PRISM 3130xL; Applied Biosystems) employing the same primers as those with the BigDye kit (Applied Biosystems). The sequences obtained were compared with bacterial sequences in the GenBank database utilizing the BLAST program. This analysis demonstrated the microorganism as L. mesenteroides. (GenBank: KU517836).1 We evaluated biofilm production by carrying out the Christensen method, revealing a mild level of biofilm production [].
The patient received treatment with Ceftriaxone 2 g OD for 10 days IntraVenously (IV) due to the lack of a supply of Ampicillin at the time, and was then switched to oral Amoxicillin-Clavulanate 875/125 mg tid for 3 months, when the patient had not knee symptoms and CRP reached 5 mg/dL, without having any side adverse events. Physical therapy was administered for 2 months, with the patient regaining leg strength. Clinical and laboratory evolution was good at 6-month time lapses for 3 years without the presentation of inflammatory knee symptoms and with CRP levels of 3 mg/dL.


An 87-year-old Chinese woman with history of mild anemia and diabetes type 2 was admitted after falling at home. Her emergency physician found diffuse ecchymoses of her right cheek. She had pain in her bilateral arms and legs. Labs showed hemoglobin of 7.4 mg/dL, acute kidney injury, and rhabdomyolysis. Her PTT was >150 s, which did not correct in subsequent mixing studies, indicating the presence of an inhibitor. PT and INR were normal. FVIII was measured at <1% with inhibitor titer of 27.6 Bethesda units (BU).
During her hospital stay, she developed melena and vaginal bleeding, and her hemoglobin dipped to 5.7 mg/dL. An esophagogastroduodenoscopy showed multiple duodenal ulcers, treated with epinephrine injections and clipping. In total, she received 7 units of packed red blood cells and 3 units of fresh frozen plasma. Additional positive laboratory findings included lupus anticoagulant, anti-nuclear antibody (ANA) at 1:160, and anti-Sjogren’s-Syndrome-related antigen A (anti-SSA) antibody. The erythrocyte sedimentation rate was 109 mm/h, and the C-reactive protein was 25.26 mg/dL. Given concern for aplastic anemia initially, the team had also checked serologies for parvovirus and found positive IgM and IgG antibodies. When rechecked two weeks later, the parvovirus IgM antibody level normalized, while the IgG antibody remained elevated.
The patient’s creatinine kinase (CK) peaked at 7587 U/L, and her myoglobin peaked at 1366 ng/mL. Because of pain and swelling in her bilateral arms, we performed a CT of her arms, which showed edema and inflammation of muscle groups in both forearms. Incidentally, the CT also showed third spacing involving the subcutaneous soft tissues of both flanks, findings that were consistent with myositis.
While the patient’s arterial duplex study was negative for clot, the venous duplex was significant for superficial venous thromboses in both cephalic veins and right upper extremity deep venous thrombosis in the brachial and radial veins. Given her bleeding risk, no anticoagulation was started, and an inferior vena cava catheter was placed.
Her edema, pain, and CK markedly improved after the initiation of intravenous steroids. Unfortunately, due to her extensive upper extremity edema, she developed compressive neuropathy of her bilateral median and ulnar nerves, confirmed on an electromyogram and nerve conduction study, leading to functional disability in her hands.
Though initially she was suspected of having Sjogren’s given her positive anti-SSA along with other symptoms including xerostomia and arthralgias, her rheumatologist ultimately designated her condition as undifferentiated connective tissue disease, and she was started on hydroxychloroquine. A biopsy of her endometrium, performed because of her earlier vaginal bleeding, was negative for malignancy. Her symptoms ultimately were subdued after a long course of prednisone tapered over several months, and her FVIII level recovered to 180% on a repeat measurement 3 months later.


A 59-year-old Chinese woman with gout developed upper extremity bruising and a large, left calf hematoma after using topical herbs containing Corydalis turtschaninovii, Salvia miltiorrhiza Bge, and largehead Atractylodes rhizome to treat alopecia she had been experiencing for a year. Initial evaluation revealed a prolonged PTT, and subsequent labs revealed a critically low FVIII activity of 3%, an inconclusive mixing study, and a negative lupus anticoagulant. Based on her clinical symptoms and these laboratory findings, she was hospitalized, at which time her Hgb was 11.7 mg/dL and PTT was 66.7 s. A rheumatologic laboratory panel was negative. Given concern for AHA, she was treated empirically with high dose methylprednisolone at 1 mg/kg and a dose of desmopressin. Later, she received two doses of recombinant FVIII and was discharged on a prednisone taper.
Though her calf hematoma resolved, she then developed a left thigh hematoma a month later. To address this, she again received recombinant FVIII. Worsening of her bruising followed, and she was again admitted, this time receiving a 3-day course of intravenous immunoglobulin (IVIG), while also having her prednisone dose increased. A bone marrow biopsy was negative for malignancy. Her hematoma improved, and her prednisone continued to be tapered. An inhibitor titer of 22.4 BU was then found.
A month afterward, she developed recurrent hematomas in her legs and oral bleeding. She was again admitted for a second course of IVIG, while her prednisone dose was increased again. Following this treatment, though her hematoma improved, she developed livedo reticularis, thought at the time to be a reflection of underlying, undiagnosed connective tissue disease. Her leg hematoma did not improve until she received a third course of IVIG. Yet another month later, she developed another large, right leg hematoma, and was prescribed her fourth course of IVIG.
Throughout this entire course of events, her FVIII levels did not improve, and her PTT never fully normalized. Consequently, she was started on a trial of rituximab, to which she did not respond, so another round of rituximab was given. At this point, prednisone had been tapered off. During her second rituximab course, she developed shingles on her right chest, which resolved with valacyclovir. To date, she still has a low FVIII activity of 8%, though she has not had any recent bleeding episodes. She has stopped using her topical herbs.


A 60-year-old man from a rural area of Saltillo, northern Mexico, came to our institution presenting an ulcerated lesion on the left lateral border of the tongue of 1.5 cm of diameter. According to the patient the lesion has been growing for the last 5 months (). He is a nonsmoker, with no evidences of any systemic disease. Considering the clinical aspects, age of the patient, and poor oral health, epidermoid carcinoma was considered as diagnosis. After an excisional biopsy the diagnosis was of coccidioidomycosis ().
Histology demonstrated a granulomatous lesion with abundant lymphoplasmacytic chronic inflammatory infiltrate and multinucleated giant cells with spherical cytoplasmic inclusions of different size which correspond to the infectious agent C. immitis (Figures –).


A four-year-old boy presented with abdominal distension, bilious vomiting and non-passage of flatus and stools for the last four days. He had abdominal pain for a month. Patient was adopted child with history of pica and trichotillomania. On general physical examination patient was thin built, malnourished with weight of only 10kg and poor orodental hygiene. On clinical examination, patient was dehydrated with pulse rate of 106/minute and blood pressure of 104/64 mm Hg. Abdomen was distended with signs of peritonitis. The laboratory analysis revealed hemoglobin of 9gm% with marked leucocytosis of 15000/mm3. Rest of the laboratory tests were within normal range. Plain abdominal radiograph showed multiple air-fluid levels. Ultrasound abdomen showed dilated gut loops. Laparotomy revealed significantly dilated and distended small bowel loops proximal to an impacted bezoar at distal ileum. There were two minute perforations and the gut wall ischemia at the site of impaction. The trichobezoar was extracted through enterotomy and ischemic ileal segment was resected, and end to end ileo-ileal anastomosis was performed (Fig.1). There were no bezoars in the stomach or any other part of bowel. The postoperative course was uneventful and the patient was referred to the psychiatry department for further management.