A 26-year-old nulliparous Asian woman with an uneventful medical history was admitted to a district hospital at 14 weeks' gestation because of excessive vomiting. Laboratory tests showed pancytopenia (Hb 3.5 mmol/l, Ht 0.17, MCV 87, reticulocytes 28.6 *109/l, leukocytes 3.5 *109/L with differentiation 41% neutrophiles, 50% lymphocytes and 8% monocytes, platelets 45 *109L). No iron, folic acid and vitamin B12 depletion were encountered. She did not use medications and had not been exposed to toxic materials. A bone marrow biopsy was taken showing poor cellular bone marrow without signs of malignancy. Aplastic anemia was the most likely diagnosis. The patient was transferred to our academic hospital for further diagnostic evaluation, counseling and treatment. Repeated bone marrow tests, including immunophenotyping and cytogenetic tests, did not show abnormal cell populations. Bone marrow biopsy showed hypocellular marrow with a percentage less than 5% (Figure ) without specific markers for other causes of pancytopenia, such as acute leukemia, myelodysplastic syndrome, hairy cell leukemia, lymphoma, myelofibrosis or anorexia nervosa. In concordance with the diagnosis of aplastic anemia a small population of paroxysmal nocturnal hemoglobinuria (PNH) positive cells was detected in peripheral blood.
Aplastic anemia was assumed to originate during pregnancy because six months before admittance to the hospital our patient's hemoglobin level was normal (8.1 mmol/l; normal range: 7.5 to 10.0 mmol/l). During hospital admission the disease progressed resulting in erythrocyte (270 mL dosage consisting of Ht 0.57 l/l) and platelet transfusion (310 mL consisting of 340 *109 platelets) with target platelet count 10 *109/l twice a week. Methylprednisolon was started together with cyclosporine A (CsA) in a dosage of 5 mg/kg twice a day (bd). The patient did not respond (Figures , , ). Moreover, she developed HLA-antibodies against platelets, complicating the search for suitable platelet donors. At 35 weeks the patient became neutropenic, for which oral colistin and tobramycin were given prophylactically.
At 35 weeks labor was induced electively for logistic reasons. Sufficient platelet donors with HLA identical platelet transfusions were guaranteed. During delivery the patient had a fever (38.2°C). The fetus responded with tachycardia. Since intra uterine infection was suspected, amoxicillin and clavulanic acid were started intravenously. She gave birth spontaneously to a healthy son weighing 2415 grams with a five-minute Apgar score of 10. Estimated blood loss during delivery was 100 ml. After delivery severe pancytopenia with neutrophile number <0.05 *109/l persisted. She remained erythrocyte and platelet transfusion-dependent despite CsA treatment. After delivery laboratory tests still showed severe pancytopenia despite transfusions (Hb 5.4 mmol/l, platelets 53 *109/l, leukocytes 1.5 *109/l and neutrophils <0.05 *109/l). Treatment with CsA was continued without success. Therefore, ATG was planned to be added three months after delivery. However, during hospital admission the patient had a fever of 41.2°C and gingival bleeding. No microbiological origin was found. The patient was treated with imipenem and ATG treatment was postponed. The next day the patient had diarrhea, headache and a maculopapular rash, probably due to medication use. Therefore, all medications were stopped for three days. She was discharged from the hospital to recover from the rash and fever. However, two days later she returned to the hospital because of severe vomiting, diarrhea and headache. She became hypotensive and hypoxic needing admission to the intensive care unit. Because of Staphylococcus aureus bacteremia, antibiotic treatment was started (meropenem and vancomycin). She needed artificial respiration because of progressive dyspnea. She developed bilateral pneumonia followed by a pneumothorax in the left lung needing a thoracal drain. Antibiotic treatment was switched to flucloxacillin. Two days later she had an anisocoria, that is, unequal pupil sizes and Glasgow coma score of E1M4(left)Vt. Platelets were 26 *109/l (target platelet count 20 *109/l). The previous day platelets had been 3 *109/l although HLA matched platelet transfusion five times a day. A computed tomography scan of the cerebrum showed a total left arteria cerebri media infarction with bleeding, compression of the left lateral ventricle and midline shift to the right (Figure ).
Because of the poor prognosis, based on the combination of very severe aplastic anemia and cerebral infarction, further treatment was stopped and the patient died 18 weeks after delivery. At present the child is healthy.


An 87-year-old Caucasian female patient presented to the ear nose and throat (ENT) clinic with a painless, slowly enlarging mass on the lower lip for approximately 6 months. She denied a history of previous malignancies. Physical examination revealed a firm, flesh-colored, indurated thick plaque measuring 3.3 × 2.7 × 1.0 cm, located 0.5 cm away from the lower vermilion border. There were no epidermal changes. No lymphadenopathy was noted. The patient underwent two fine-needle aspiration (FNA) biopsies, each one month apart. Both FNAs revealed similar findings, including paucicellular smears, round tight three dimensional cell clusters, round to oval cells with high N: C ratio, occasional cytoplasmic lumens, without distinct hyperchromasia, focal inconspicuous nucleoli, smooth regular nuclear membranes, abundant naked nuclei, and focal acellular stromal fragments in the background. Occasional squamoid cells were identified [Figure –]. The diagnoses were reported as “Epithelial neoplasm, favor adnexal tumor.” The differential diagnosis included salivary gland neoplasm, especially a low-grade mucoepidermoid carcinoma. The patient received a wide excision. On histopathological examination, the tumor consisted of islands and cords of cells with mild atypia, as well as occasional tadpole-like ductular formation and microcysts embedded in a dense desmoplastic stroma. The neoplasm infiltrated the underlying skeletal muscle. Focal horn cysts were present, as well as perineural infiltration. The tumor extended close to the deep margin [Figure –]. Periodic acid-Schiff diastase (PAS-D) and mucin stain failed to demonstrate mucin deposit in the lumen of the ductular structure. The tumor cells were immunohistochemically reactive to AE1/AE3, but nonreactive to S-100 and BerEP4 []. The diagnosis of MAC was made.


A 59-year-old woman presented with a two-year history of constant, progressively worsening, left-sided upper thoracic pain. In the month prior to presentation, she also experienced ascending paresthesias from her toes to the T5 dermatome along with gait weakness and instability. Imaging studies elsewhere revealed a dumbbell-shaped upper thoracic mass emanating from the T5 foramen with extensive encasement and compression of the thoracic cord from approximately T4 through T6. Additionally, the tumor appeared to extend into the T5 vertebral body. A CT-guided biopsy of the mass was performed and was diagnosed as a “spindle cell tumor consistent with schwannoma.” Since her symptoms continued to progress despite treatment with steroids and radiation, she was referred to our institution for further treatment including surgical resection.
Following a lengthy discussion, the patient chose to undergo partial resection of her lesion. The tumor was exposed through a T3-T6 laminectomy and an extensive epidural mass was noted dorsally between T4 and T5 and extending out the T4-5 foramen, infiltrating the T4-5 facets and encasing the T4 nerve root. The tumor was grossly debulked, and the final pathology report revealed a high-grade SS []. The patient tolerated surgery well and there were no complications. Since the pathology showed a high-grade sarcoma, adjuvant therapy was planned to reduce her overall tumor burden before a second-staged surgical procedure. After she recovered from her surgery, the patient was started on three cycles of ifosfamide/adriamycin (7500 mg per sq. m/60 mg per sq. m, respectively) chemotherapy. She then returned home and received 46 Gy of total radiation to her tumor volume in addition to the previous 4 Gy received.
The adjuvant therapy had stabilized her disease and 7 months following her initial evaluation she underwent a second-staged operation. A one-piece gross total resection of T4, 5, 6, and 7 vertebra with a posterior instrumented spinal fusion from T1-L1 was performed. The tumor was removed with negative margins. The patient recovered well from the operation. She was seen on a 6-month basis by oncology with no recurrence of her tumor noted and improving symptoms. A year and a half later, she returned, complaining of new-onset back pain in her right scapular region and left mid back. This pain was found to be attributed to a fractured rod, which was surgically repaired. She continues to be followed and she has no evidence of tumor recurrence or metastases 67 months after the final resection.


A 54-year-old woman presented with several months of pain in her right buttock and hip, paresthesias of her right leg, and generalized right leg weakness. Her symptoms progressed, involving her left leg in a similar fashion and a sensory level at the costal margin was found bilaterally. Over the last month, she noted saddle numbness and loss of bladder and bowel control. Spine MR showed a large, right-sided, paraspinal mass centered around T10 with adjacent leptomeningeal enhancement—no spinal cord compression was noted []. A CT-guided biopsy was consistent with a spindle cell tumor, but the specific tumor type was indeterminate.
There was some question if the leptomeningeal enhancement was associated with the paraspinal mass or was an unrelated disease process. The location of maximum leptomeningeal enhancement was at the T12-L1 junction. A T12-L1 laminectomy was performed and the underlying thickened arachnoid was biopsied. The leptomeninges demonstrated the presence of a spindle cell tumor similar in morphology to the one seen in the epidural CT-guided biopsy. The tumor cell morphology suggested the diagnosis of monophasic SS, a diagnosis confirmed by immunohistochemical and RT-PCR studies []. The tumor arose from a paraspinal mass and extended through the dura to the leptomeninges, a very unusual presentation for SS. There were no metastatic findings at that time and systemic chemotherapy (ifosfamide and doxorubicin) was recommended. The patient returned home to receive treatment at another institution. We learned through correspondence with her home institution that the patient died 4 months later most likely from a right-midbrain lesion that appeared consistent with a glioma on MR imaging studies. No autopsy was performed.


This 32-year-old woman presented with 8 years of progressive right-sided subscapular thoracic pain incited by lifting her arm above her head. This pain became more frequent and began to occur spontaneously, disrupting her sleep and causing her significant difficulties. Two MRI studies were performed during this time, the first in 2004 and the second in 2009, and she was told that the findings were unremarkable. When she presented to our institution, she had severe, mechanically reproducible pain located several inches to the right of her mid-thoracic spine. The pain also radiated both up to the axilla as well as down the right leg. A review of outside MRI studies revealed a lobulated, T1 isointense, mildly T2 hyperintense, 3 cm enhancing mass involving the right T5 nerve root through the foramen with extension into the paraspinal muscles []. These imaging characteristics were most consistent with a schwannoma or another nerve sheath tumor since there was little change on interval exams that were 5 years apart.
As it was felt that this symptomatic lesion was likely benign and easily accessible, resection was advised. Intraoperatively, the mass was identified in the erector spinae muscles of the T4-7 region on the right side. The tumor was mobilized and gross total resection achieved, including the foraminal component. However, intraoperative pathology revealed a spindle cell sarcoma rather than a benign process, necessitating extension of the surgical resection. A T5-6 laminectomy was then performed, the dura incised, and the entire nerve root in the foramen of presumed origin was resected until negative dural margins were achieved. After the dural closure, all grossly visible tumor appeared to have been removed from the region and surrounding tissues. Final pathology showed a high-grade, fibrous-type, monophasic SS. The patient tolerated the surgery well and was neurologically intact.
Concern for residual tumor remained as postoperative imaging studies demonstrated abnormal T5-6 transverse processes. To achieve a complete resection with negative margins a second surgery was undertaken where a one-piece gross total resection was performed of the entire tumor bed. Both transverse processes were resected and gross residual tumor was found in the T6 transverse process. Wide margins were excised, and the pathologist entered the OR to correlate the negative margins with the visualization of the previous tumor bed. Based on these findings, it appeared that the resection had removed all residual viable tumor present. The patient tolerated the second operation well.
At 6-month follow-up, no local tumor recurrence was found, but several small lung nodules were noted on chest CT. These nodules were consistent with metastases and the largest was measured at 7 mm. She was seen in oncology and systemic chemotherapy to shrink the tumors and resection of these nodules has been planned. At 1-year follow-up, her spine continues to be disease free, while her lung nodules have slightly increased in size. Therapy is ongoing at this time to address the lung nodules.


The patient was a 23-year-old Persian woman who weighed 60 kg. She underwent a laparoscopy at the eighth week of gestation (G1Ab0L0) because of a right adenexal mass and free liquid in her dorsal cul de sac space.
Considering the patient's medical record, there was no evidence of any underlying diseases or positive history of allergic reactions to food or drugs in her or her close family. She had never undergone any operations before and had no previous exposure to neostigmine. Additionally, there was no positive finding in her medical history, preoperative examinations and laboratory findings (complete blood count, erythrocyte sedimentation rate, blood urea nitrogen, creatinine and liver function tests).
Midazolam (2 mg) and fentanyl (50 μg) plus thiopental (5 mg/kg), atracurium (0.5 mg/kg) and lidocaine (1 mg/kg) were injected to induce anesthesia. The patient received halothane (1.2 minimum alveolar concentration) and oxygen (100%) for anesthesia maintenance. Two minutes before the surgical incision was performed, 25 μg fentanyl was injected; atracurium (0.15 mg/kg) was then administered every 20 minutes during the operation.
The surgeon suctioned about 500 ml of blood from the patient's abdominal cavity; no blood, however, was transfused during the two-hour, 40-minute operation. The patient's vital signs were monitored throughout the surgery, and no specific complication was reported.
At the end of the operation, the patient was still in a deep anesthetic stage and did not respond to painful stimuli. Partial muscular force, however, was restored as soon as the inhaled anesthesia was ceased; thereafter neostigmine (0.04 mg/kg) and atropine (0.02 mg/kg) were infused slowly. At this time, the patient developed a 5 mm urticarial lesion along the vein course that quickly spread over the left forearm. The erythematous convex lesions spread in a geographical pattern but were less severe in the neck and chest (Figure ).
Bigeminate premature ventricular contractions (PVCs) were also noted at the same time but disappeared spontaneously after a few minutes. It should be noted that the patient's heartbeat (80beats/min), blood pressure (110/60 mmHg) and blood oxygen saturation (SpO2) (98%) were all normal at this time, and there was no sign of wheeze or other abnormal lung sounds in auscultation.
Hydrocortisone (200 mg) was prescribed for the lesions. The tracheal tube was removed as soon as the patient became conscious, and she was then transferred to the recovery room. No other complications such as the development of dermal lesions or cardiac dysrhythmia were reported during the patient's hospitalization, and she was discharged in good condition.
A sample of the prescribed neostigmine was sent to the laboratory of the Pharmacology Faculty; further analysis revealed the medication to be neostigmine methylsulfate with 102.85% effective substance (in accordance with USP30 reference) with no other additives.
The postsurgical echocardiography was reported to be normal. A skin test performed a few months after the operation revealed a 5 mm wheal and 7 mm flare after the patient was exposed to neostigmine; such a reaction, however, was not noted following the exposure to atropine, normal saline and latex. Additionally, histamine exposure was associated with the development of an 8 mm wheal and a 9 mm flare, suggestive of a positive dermal reaction. It should be noted that the patient did not agree to undergo additive complement component C3 or C4 and antinuclear antibody tests.


A 36-year-old male visited of our facility complaining air bubbles during voiding. He had a past history of conservative management in another hospital for 1 month due to in-car traffic accident 4 months ago. On the radiologic examination in the previous hospital, there was only left renal injury (grade IV/V) and perirenal hematoma with no evidence of renocolic fistula () and mild hemothorax.
The physical examination and laboratory findings were not specific for the renocolic fistula. He had no intestinal or urinary disturbances except air bubbles in the urine over several days.
On the cystoscopy, we found a diffuse mucosal edema suggesting cystitis and an air bubble jetting in the left ureteral orifice, but fecal materials were not seen in the bladder and around the left ureteral orifice (). On the radiologic examination, an accumulation of contrast medium was seen in the left colon on intravenous pyelography. On the antegrade pyelography through percutaneous nephrostomy, the left ureter showed a normal feature but there was contrast congestion in the splenic flexure of the colon (). Computed tomography (CT) of abdomen and pelvis revealed multiple gas shadows in the left renal pelvis and the bladder associated with a fistula tract between the lower area of the left pelvis and the splenic flexure of the colon with inflammatory changes () The right kidney showed normal contrast enhancement without any abnormality.
With a diagnosis of renocolic fistula, the patient was subsequently explored through a left 11th transcostal flank incision with transperitoneal approach. The splenic flexure and the descending colon were tightly adherent to the kidney around the fistula. The fistula was identified between the left renal pelvis and splenic flexure of the colon. Partial colectomy was performed. There was no evidence of foreign body involving in the formation of the fistula. The lower part of the kidney revealed the necrotic change, and the renal parenchyma was replaced by the yellowish inflammatory tissues. Because of severe adhesion and scarring around the renal hilum and the renal pelvis, left nephrectomy was performed.
There were severe inflammatory changes around the resected colon and the kidney on the pathologic examination. The patient is presently doing well for 12 months without any complications after the operation and shows normal renal function.


A 23-year-old Chinese woman underwent total thyroidectomy for a painless enlargement of the thyroid gland. The enlargement had first been noted 10 years prior to admission, and there had been a gradual increase in size during the intervening period. The patient had no family history of colorectal cancer and both parents were in good health. She did not have any gastrointestinal symptoms and was otherwise well. A total thyroidectomy was performed for a clinical diagnosis of nodular goitre.
On the basis of the thyroid pathology, a flexible sigmoidoscopy was performed. This revealed numerous small (<5 mm) polyps scattered in clusters from rectum to descending colon. Biopsies of these polyps showed that they were all tubular adenomas. At colonoscopy there were more than 100 small polyps throughout the colon but predominantly left-sided. There were no polyps found on esophagogastroduodenoscopy. DNA extracted from blood lymphocytes showed a truncating mutation in segment 1 of the APC gene by protein truncation analysis, confirming the diagnosis of FAP. A total colectomy was performed.
One year following colectomy, two firm, immobile intraabdominal masses were noted on physical examination. An ultrasound directed biopsy of the masses revealed fibromatosis.


Our patient was a 78-year-old Caucasian woman with COPD for approximately 30 years who had only been treated for it recently. In June 2009, our patient was referred to a pneumologist who prescribed the use of an 18 μg tiotropium inhalation capsule once daily; this prescription was based on a forced expiratory volume in one second (FEV1) value of 59.7% that had been measured using spirometry. Our patient was not under drug treatment for any other disease. After three days, she developed generalized itching with no wheals or edema. The family physician stopped the tiotropium treatment and prescribed inhaled salbutamol as needed for dyspnea. After five months, our patient was referred to another pneumologist because of exacerbation of her COPD symptoms; however, she did not inform the pneumologist of her previous skin reaction to tiotropium. A FEV1 value of 56.4% was obtained using spirometry, and tiotropium was again prescribed. This time, our patient experienced generalized itching approximately one hour after the first dose. Our patient's family physician referred her to us for allergological evaluation. We performed a double-blind placebo-controlled inhalation challenge with tiotropium, administering the drug or the placebo on two days consecutively. The lactose monohydrate excipient contained in the powder was used as the placebo. Our patient experienced generalized itching 50 minutes after inhaling tiotropium but had no symptoms after inhaling the placebo. As our patient had experienced an immediate allergic reaction, we performed a skin prick test (SPT) with tiotropium diluted in physiological solution; however, the SPT result was negative. In addition, SPTs performed using a standard panel of environmental allergens yielded negative results. We advised our patient to avoid using tiotropium in the future and prescribed a 9 μg formoterol inhalation capsule twice a day; this medication was well tolerated and effective.


A 19-year-old Caucasian man presented to our emergency department complaining of right hip pain and fever. Our patient had been in excellent health until pain developed three days before his presentation. A day before admission, his temperature rose to 38.5°C, with rigors and sweating. He had no history of tobacco use, alcohol use, intravenous drug use, or any other factors for HIV infection. Our patient's medical history was unremarkable. A physical examination revealed painful hip movement and a positive straight leg raise sign, without any other significant abnormalities. Further investigation was deemed necessary and our patient was subsequently admitted to the hospital.
Results of a hip X-ray were unremarkable. Laboratory tests revealed a white blood cell count of 14,900 cells/mm3 (normal 4000 to 11,000 cells/mm3) with 70% neutrophils (normal 50% to 70%). He also had elevated inflammatory markers with erythrocyte sedimentation rate (ESR) 120 mm/1 hour (normal: 0 to 20 mm/1 hour) and a C-reactive protein (CRP) level of 16.76 mg/dL (normal: <0.8 mg/dL). His creatine phosphokinase (CPK) level was 52 IU/L (normal: <190 IU/L) and lactate dehydrogenase (LDH) level was 366 IU/L (normal 120 to 230 IU/L). Specimens of blood and urine were obtained for culture. The same day, he was submitted to a computed tomography (CT) scan of the abdomen, which did not show any significant abnormality.
A pelvic magnetic resonance imaging (MRI) scan was performed two days later with a 1 Tesla Gyroscan Intera scanner. Imaging included spin-echo (SE) T1-weighted imaging, short tau inversion recovery (STIR), and SE T1-weighted imaging fat suppression with intravenous gadolinium contrast injection (FAT-SAT+GD) images in the axial plane and SE T1-weighted imaging, TSE T2-weighted imaging, STIR, and T1-weighted imaging SE FAT-SAT+GD in the coronal lane.
The examination revealed a markedly enlarged right piriformis muscle on the T1-weighted image (Figure ). On the STIR images there was an abnormally high signal intensity in the muscle, suggestive of edema (Figure ).
After gadolinium administration there was widespread pathological enhancement, consistent with the presence of myositis. Inflammatory changes were also depicted in the adjacent soft tissues, spreading along the fascial planes (Figure ).
Serology with a standard tube agglutination test revealed a titer of >1/1280 for B melitensis. Two blood culture tests were also positive for B melitensis. Antibiotic treatment for brucellosis was initiated, with doxycycline 100 mg twice daily, rifampin 900 mg daily and ciprofloxacin 500 mg twice daily.
Then, three days after the initial MRI scan our patient was submitted for a bone scintigram, which showed an increased uptake of radiopharmaceutical agent in the right hip, as well as high osteoblastic activity in the right sacroiliac joint. Our patient was dismissed from hospital three weeks later. After six months of antibiotic treatment our patient was asymptomatic. At that time he was submitted to a follow-up MRI, which exhibited complete resolution of the previous findings (Figure ). Our patient has remained asymptomatic to date.


Patient (1) is a 3 years old female, the second in order of birth of a first cousin marriage (Figures and ). She was referred to the genetic clinic at the age of one year with a provisional diagnosis of congenital Rubella syndrome. At presentation she had jaundice of one week duration, her length was 71.5 cm (less than - 4 SD), weight was 7 Kg (less than - 4 SD), and skull circumference was 39 cm (microcephalic). She had global developmental delay (that progressed in the next years), enophthalmia with characteristic physical appearance and cutaneous photosensitivity. Abdominal examination revealed an enlarged liver (8 cm below the costal margin) firm in consistency, with rounded border and smooth surface. She had moderate ascites with bilateral shifting dullness and bilateral lower limb oedema.
ALT was 94 IU/L (normal: 37), AST: 143 IU/L (normal: 40), total bilirubin: 5.9 mg/dl, direct bilirubin: 5 mg/dl, albumin: 1.5 g/dl. Prothrombin time (PT) was prolonged with INR: 1.7. Hepatitis A virus IgM, HBsAg, HBcAb IgM, hepatitis C virus antibodies were negative; CMV, EBV and rubella (IgG and IgM) were also negative. Plasma aminoacids revealed a mild elevation of methionine: 1.3 mg/dl (normal < 0.8) and an elevation of methionine/phenylalanine ratio: 1.41 (normal < 1.0). Acylcarnitine profile was normal. Total galactose (galactose and galactose 1- phosphate combined): 1.7 mg/dl (normal <15). Galactose 1- phosphate uridyle transferase was: 71.2 uM (normal >60). DNA testing for galactosemia mutation revealed no copies of the Q188r, S135L, K285N, or L195P (classical galactosemia) or N314D (Duarte galactosemia).
Slit lamp examination revealed clear corneas and lens. Fundus examination showed pigments around the disc (bilateral retinal dystrophy). CT brain revealed central and cortical involutional brain changes. MRI brain revealed mild prominence of the brain sulci, fissures and basal cisterns with mildly dilated ventricular system more appreciated at the cerebellar hemispheres with mildly prominent cerebellar fissures. This is in addition to evidence of dysmyelinating process in the form of periventricular hyperintensity. Nerve conduction velocity and EMG showed normal studies.
The patient received ursodeoxycholic acid (UDCA) at a dose of 20 mg/kg/day, vitamin E (100 mg/day), aldactone (2 mg/kg/day), vitamin K (10 mg/day) and albumin transfusion. She gradually improved over one month and was discharged from the hospital on aldactone (12.5 mg/12 hrs) and vitamin K (10 mg once daily). Her investigations on discharge were: total bilirubin: 3.6 mg/dl, direct bilirubin: 2.1 mg/dl, albumin: 4 g/dl, AST: 54 IU/L, ALT: 100 IU/L, and normal PT. After 2 months, the amino acid profile was repeated and revealed normal results. At that time, all drugs were stopped and after 6 months the liver condition was completely normal with the mildly raised liver enzymes as the only abnormal finding.


Patient (3) is a 4 years old boy, the third in order of birth of first cousin marriage. He presented to the hepatology clinic with jaundice following an attack of vomiting and diarrhea. He had a similar attack at the age of two years that regressed spontaneously.
On examination the patient had progressive neurologic dysfunction, his height was 95 cm (-2 SD), weight was 13 kg (-3 SD) and skull circumference was 43 cm. He had characteristic physical appearance with enophthalmia, nystagmus, jaundice, and skin photosensitivity. His liver was 4 cm below the costal margin, firm in consistency with rounded border and smooth surface. The spleen was felt two cm below the costal margin. Neurological examination showed intention tremors, cerebellar ataxia, lost knee and preserved ankle deep reflexes. Chest and heart examination were clinically free.
Investigations at that time revealed ALT: 270 IU/L (N: 37), AST: 232 IU/L (N: 40) GGT: 183 (N: 50), total bilirubin: 3.35 mg/dl, direct bilirubin: 2.6 mg/dl, albumin: 3.2 g/dl, PT 11.7 sec. (INR: 1). Tests for HBV, HCV, and HAV revealed negative results. Ceruloplasmin level, protein electrophoresis and auto antibodies were also normal.
Abdominal ultrasonography revealed enlarged liver with regular border, homogenous echopatteren, patent portal and hepatic veins. Fundus examination showed no abnormality. CT brain was normal, while MRI brain showed deep white matter signal alteration at the forceps minor and major regions, middle cerebellar peduncles, the posterior segmental aspects of the pontine isthmus and basis pontis. Those areas exhibited bright signal on FLAIR and T2W1, a picture consistent with dysmyelinating disease.
The patient received ursodeoxycholic acid at a dose of 20 mg/kg/day and vitamin E (100 mg/day). Two months later, ALT decreased to 83 IU/L, AST decreased to 95 IU/L, total bilirubin was: 1.7 mg/dl, direct bilirubin: 0.7 mg/dl, albumin: 3.2 g/dl, and PT 11.3 seconds.
Six months later, the patient had another similar attack that was also precipitated by viral infection and was associated with increased tremors, ataxia and inability to walk. He received the same treatment with excellent response and complete recovery of liver functions, and improvement of ataxia, and tremors.


Patient (4) is a 13 years old boy (the older brother of patient (3)). His weight was 17.5 kg (less than - 4 SD), height was 115.5 cm (less than - 4 SD) and skull circumference was 50.5 cm. He had progressive neurologic dysfunction, characteristic physical appearance of the stooped standing appearance and senile facies, sunken eyes and skin photosensitivity. Neurological examination revealed typical cerebellar ataxia. He also had history of recurrent attacks of jaundice before his presentation to our clinic that were always preceded by infection. Bilirubin level, ALT, AST, INR and albumin were normal at time of presentation. Urine and plasma aminograms were also normal.


Patient (5) is a one month old boy, the second in order of birth of first cousin marriage. He presented to the genetics clinic with microcephaly (skull circumference: 31 cm), small anterior fontanel, deep seated eyes, polydactyly of both hands and left foot. CT brain was normal. His older sister Patient (6): According to the parents' history and the medical reports, she had progressive neurological dysfunction, skin photosensitivity, microcephaly, enophthalmos, nystagmus, cataract, and spasticity of both lower limbs. Fundus examination revealed pigmentary retinopathy and CT brain showed calcification of basal ganglia. She developed jaundice after anaesthesia for cataract extraction at the age of 10 years and died soon after the operation as a result of hepatocellular failure.


Patient (7) is a 16 year old girl, the second in order of birth of first cousin marriage. She presented to the genetics clinic with severe growth retardation, progressive intellectual deterioration, deep seated eyes, bilateral cataract, and cerebellar ataxia. Her weight was 12.5 Kg (< 4SD), length was 120 cm (she could not stand), and skull circumference was 49.8 cm. Her abdominal examination revealed no organomegaly but her ALT was mildly elevated (46 IU/L, normal: 40). Nerve conduction velocity showed axonal neuropathic disease and audiometry showed moderate sensorineural hearing loss.


Patient (8): is a 6 year old boy, the brother of patient (7). His height was 110 cm (< 4SD), his weight was 11.5 Kg (< 4SD) and skull circumference was 44 cm. He had the same characteristic physical features of his older sister with cataract and cerebellar ataxia. Abdominal examination revealed enlarged liver (palpable 4 cm below the costal margin). His chest and heart examination were clinically free.
Abdominal ultrasound showed mildly enlarged liver with normal spleen. ALT was 135 IU/L (normal = 40), AST was 126 IU/L (normal = 37) and GGT was 85 U/L (normal = 50). Nerve conduction velocity showed axonal neuropathic disease and audiometery showed moderate sensorineural hearing loss.


Patient (9): is a 2.5 year old girl, the youngest sister of patient (7 and 8). Her height was 90 cm and her weight was 8.5 Kg and skull circumference was 42 cm. She had bilateral cataract that was extracted at the age of 1.5 years and cerebellar ataxia. Abdominal examination revealed mildly enlarged liver which was palpable 2 cm below the costal margin. Her chest and heart examination were clinically free. Abdominal ultrasound showed no abnormalities apart from the mildly enlarged liver. ALT was 101 IU/L (normal = 40), AST was 49 IU/L (normal = 37) and GGT was 27 U/L (normal = 50). Although bilirubin level in this family was normal, GGT was mildly increased in patient (8). Table and demonstrates patient clinical criteria and laboratory investigations at time of presentation.


We report an 18-year-old male who presented to neurosurgery outpatient department with complaints of fluctuating paraparesis for 6 months. He noticed weakness of lower limbs when he woke up one morning; he failed to move his lower limbs but after half an hour, he started moving with persistent unsteadiness and difficulty in walking. This deficit also recovered the same evening. He remained asymptomatic for the next 4 months when he again developed ascending weakness of lower limbs along with spasticity, and in the next 3 months, he was not able to stand even with support. He developed retention of urine for which a Foley’s catheter was installed. He had constipation for 1 month. This patient denied history of trauma, fever, drug intake like steroids, antithyroid drugs, and infections. Physical examination revealed a non-obese patient [weight 65 kg, height 167 cm, body mass index (BMI) 23.30 kg/m2] without any evidence of Cushings syndrome or endocrinopathies. Systemic examination was normal. Neurological examination revealed increased tone in lower limbs with preserved muscle bulk. Power at hip and knee was 3/5 while at ankle and toes it was 0/5 (Medical Research Council grading) with brisk knee and ankle jerks. Bilateral planters were extensor. There was a graded sensory loss below D10 level. Local examination did not reveal any spinal deformity or tenderness. He was diagnosed to have compressive myelopathy in thoracic region. His hematological and biochemical investigations were normal. Cerebrospinal fluid (CSF) examination was also normal. X-ray spine was unremarkable, but magnetic resonance imaging (MRI) thoracic spine showed posterior epidural mass in dorsal spine extending from D5 to D7 level with maximum thickness of 10 mm and causing cord compression. This mass was homogeneously hyperintense in both T1W1 and T2W1 images suggestive of fat [Figures –]. He was operated and lipoma with poor plane of cleavage was present. Histopathology was suggestive of lipoma. This patient was discharged and at follow-up of 6 months, he was able to walk with support.


A 50-year old female presented with shortness of breath, chest and shoulder pain, and pericardial effusion. Pericardiocentesis yielded 950 ml of pericardial fluid, which was sent for biochemical, microbiological, and cytological analysis. The diagnosis was inconclusive and she was treated for presumed idiopathic recurrent pericarditis with prednisone. Five months later she presented with clinical signs of subacute cardiac tamponade. After pericardiocentesis she quickly recovered, however, pericardial fluid analysis again remained inconclusive. Three months after this second episode transthoracic echocardiography (TTE) revealed a tumor in the right atrium. The patient was then referred to our institution for further evaluation.
A chest X-ray (Figure ) showed enlargement of the right atrial border and an electrocardiogram showed normal sinus rhythm with a heart rate of 87 beats per minute.
Transthoracic (TTE) and transesophageal echocardiography (TEE) confirmed pericardial effusion, and showed a giant mass (51 × 44 mm) that infiltrated the right atrial free wall and that protruded into the right atrium (Figure ). Left ventricular function was normal and there were no valvular abnormalities.
Coronary angiography of the right coronary artery (Figure ) showed two right atrial branches with several small areas of abnormal contrast enhancement, representing new vessel formation feeding the tumor ("tumor blush"). Right heart catheterization revealed normal right heart and pulmonary artery pressures and showed no signs of obstruction of blood flow in the superior and inferior vena cava, in the right atrium and ventricle, or in the pulmonary artery.
Fluorodeoxy-glucose-18 - positron emission tomography - computer tomography (FDG-PET-CT) scanning (Figure ) was performed to assess metabolic activity and revealed hypermetabolic uptake of FDG in the right atrium, consistent with malignancy. No metastatic spread to any other organs was seen.
Cardiovascular magnetic resonance imaging (MRI) (Figure ) and CT (Figure ) showed a large excentric and inhomogenous tumor (74 × 64 × 53 mm) in the right atrial free wall, protruding into the right atrium, compressing the right atrial appendage, and extending into the wall of the superior vena cava. The tumor was in close proximity to the ascending aorta and extended into the right atrioventricular groove, but did not involve the right coronary artery, the right ventricle, or the annulus of the tricuspid valve. Pericardial effusion was identified around the tumor, right atrium, and right ventricle.
CT, MRI, and PET did not reveal any positive lymph nodes or mediastinal or lung involvement. MRI of the brain did not show any cerebral metastases and a normal mammogram excluded primary breast cancer.
Twenty-two days after the initial diagnosis the patient underwent surgical excision of the tumor (Figure ). Histologic examination of a frozen section during surgery revealed that the tumor was malignant (most likely a type of sarcoma). The tumor was resected successfully with curative intent. First, the tumor was dissected from the base of the ascending aorta. Second, the right atrium was opened and the tumor was dissected with a broad margin from the superior vena cava and the septum down to the annulus of the tricuspid valve. A free margin remained above the annulus for reconstruction. Third, the atrioventricular groove was dissected and the right coronary artery, which was adherent to, but not invaded by the tumor, was successfully dissected. All branches feeding the tumor were clipped. The tumor was successfully resected with a tumor-free margin on each side. Finally, the right atrium was reconstructed with a porcine pericardial patch.
The resected tumor was 100 × 70 × 45 mm in size (Figure ). Histopathologic examination (Figure ) showed a hemorrhagic and necrotic malignant tumor that invaded atrial myocardium and epicardium. The tumor contained solid areas and anastomosing vascular spaces lined by spindle-shaped cells with pleomorphic hyperchromatic nuclei and brisk mitotic activity. The resection margins were free of tumor cells, but the tumor extended to the epicardial surface with a small margin of less than 1 mm. Immunohistochemically, the tumor cells were positive for the endothelial markers factor VIII-related protein, CD31 and CD34 (Figure ), whereas reactivity to podoplanin, smooth muscle actin, desmin, S100 protein, keratins, and EMA was negative. These findings confirmed the diagnosis of primary right atrial angiosarcoma.
Postoperative recovery was uneventful and the patient was discharged on the eleventh postoperative day. A follow-up CT-scan after three months revealed no tumor recurrence. After a symptom-free survival of five months the patient unfortunately presented with bone and liver metastases without evidence of local tumor recurrence. Both chemotherapy and irradiation were started.


Thirty-five years old female patient presented with pain and swelling in her left inguinal region. She was very thin in appreance. On physical examination, an inguinal mass, bulging with coughing about 3 × 4 cm in diameter was palpated. She had been operated for left ovarian cyst rupture about 8 years ago. She was diagnosed as inguinal hernia and prepared for elective inguinal hernia repair. The routine preoperative laboratory tests were within normal limits.
The inguinal canal was explorated in operation. A lump, bluish-purple in color, about 3 × 4 cm in diameter was detected (Figure ). It was emerging from the inferior part of the inguinal canal. It was accapted as a vascular lesion with it's appreance. The cardiovascular surgeon was invited for consultation. The dissection was performed up to the conjoint tendon and iliopubic tract. It was decided that the lesion was a femoral vein aneurysm and elective surgery should be recommended.
We performed pelvic ultrasonography (USG) and pelvic Magnetic Resonance Imaging (MRI) postoperatively. Two ovarian cysts about 2.5 × 3.5 cm and 3 × 2.5 cm in diameter were detected in left ovary. There was also free hemorrhogic fluid in lower abdominal quadrants (Figure ). The tumor markers including AFP, CEA, CA 125, CA 15-3 and CA 19-9 were within normal limits.The color doppler USG of inguino-femoral region was normal. There were no femoral arterial aneurysm in MRI angiography (Figure ). The intra-abdominal hemorrhogical fluid had been mimiced the venous aneurysm. The patient was decided to followed-up and elective hernia repair was recommended.
Many surgical pathologies may present as inguinal swelling such as hernia, lymphadenopathy, varices, and endometriosis [,] Sometimes it is difficult to diagnose an inguinal mass definitively even in surgical exploration. Preoperative or intraoperative correct diagnosis is mandatory for performing a proper management.
A venous aneurysm is usually defined as a venous dilation which comminicates with a main venous structure by a channel. It may cause serious complications such as deep vein thrombosis and pulmonary emboli []. Venous aneurysms can be seen in every major veins and may be misdiagnosed as an inguinal hernia []. Femoral vein aneurysm is a rare clinical pathology []. It may also be misdiagnosed as an inguinal or femoral hernia. Castaldo ET, have been presented a femoral vein aneurysm simulating an inguinal hernia and added that only five cases have been reported in literature before their case report []. On the other hand, an inguinal hernia, mimicking a venous aneurysm is even more rare clinical condition. To our knowledge, there is no such a case that was reported in English literature up to date. Our patient was presented with classical findings of inguinal hernia. She had a bulging inguinal mass enlarging with increase in intra-abdominal pressure. The appreance of lamp was confusing at operation. After exploration with blunt dissections, the lesion was diagnosed as femoral vein aneurysm intra-operatively. The surgical intervention was terminated. An elective aneurysm repair after diagnostic evaluation was planned.
The postoperative diagnostic evaluation was performed. The arterial and venous system was imaged with MRI angiography and color doppler ultrasonography. There were no aneurysm in both femoral artery or vein. The only detected pathology was ovarian cysts with intra-abdominal hemorrhogic fluid in pelvic MRI. Marcucci G recommended doppler USG for venous aneurysms in inguinal region and lower extremities []. The bulging lesion that had been diagnosed as femoral vein aneurysm was a peritoneal sac (inguinal defect) filled with hemorrhogical fluid.


A 38-year-old Caucasian man presented four years ago to our urology service with right-sided groin pain, and, on clinical examination, bilateral undescended testes were discovered. Clinically, the right testicle raised suspicions of malignancy, and a scrotal ultrasound confirmed a solid testicular mass. Tumor markers, including serum β-human chorionic gonadotropins, α-fetoprotein and lactate dehydrogenase, were normal. A right-sided radical orchidectomy was performed, and the left testicle appeared clinically healthy and was brought down into the left hemiscrotum and underwent successful three-point orchiopexy. Both the chest X-ray and abdominal computed tomography (CT) scan were negative for metastasis. The tumor histology results revealed an 8 cm seminoma confined to the testicle and stained positive for placental alkaline phosphatase. There were no syncytiotrophoblastic elements and no vascular or lymphatic invasion. The tumor was diagnosed as stage Ι testicular seminoma.
The patient received precautional PA field radiotherapy. Treatment was given five days per week for four weeks with daily fractions of 2 Gy up to a target dose of 25 Gy. The patient's follow-up protocol consisted of clinical evaluation, chest X-ray, tumor markers and an abdominal CT scan. The results of these investigations have remained normal to date.
Three years following prophylactic radiotherapy the patient presented with an episode of acute urinary retention mandating urinary catheterization. A full neurological examination did not reveal any abnormality. Urodynamic findings were a bladder capacity of 480 mL, absent detrusor instability and intact bladder sensation, but maximum detrusor pressure rose only to 11 cm/H2O at maximum capacity with an inability to micturate for voiding cystometry. A trial of pharmacotherapy with bethanechol chloride for four weeks at a dose of 10 mg thrice daily failed to improve both clinical and urodynamic findings. Consequently, the patient was commenced on clean intermittent self-catheterization, which he is managing well to date. A gadolinium-enhanced brain and dorsolumbosacral MRI scan showed in the lower two thoracic vertebrae (T11-T12) and all lumbar vertebrae (L1-L5) an increased signal in the marrow fat consistent with previous irradiation and with no obvious mass lesion in the spinal cord or vertebrae (Figure ).


A 41-year-old man visited our hospital reporting a 48-h lasting pain localized on the right side of his neck. Three hours before entering the emergency room, the patient felt sudden dizziness with gait instability and clumsiness of his right limbs. His past medical history was remarkable for non-controlled hypertension as well as frequent alcohol and occasional cocaine intake. The patient denied any drug intake in the past few days.
On a general physical examination, the only relevant finding was a blood pressure measurement of 205/120 mmHg. The neurologic examination revealed moderate dysarthria, a right Horner syndrome, vertical nystagmus in all extreme gaze positions, an absent right gag reflex, right facial and left two limb hypoalgesia and thermoanesthesia, mild paresis of the right limbs, and severe right limb ataxia. An early brain computed tomography (CT) scan did not detect any significant abnormalities, but magnetic resonance imaging (MRI) showed a recent infarction in the right lateral medulla (Fig. a, b). In addition, complete occlusion of the right vertebral artery was demonstrated on magnetic resonance angiography (MRA; Fig. ). This occlusion was attributed to spontaneous artery dissection. There was no evidence of a vascular contact at the root entry zone of the right trigeminal nerve.
Forty-eight hours after admission, the patient suffered from aspiration pneumonia with breathing compromise and required intubation at the Intensive Care Unit (ICU). After several lung complications, he was eventually extubated and returned to our hospital ward 1 month after the stroke. At this moment we found the same neurologic signs he presented at onset, though milder, including some sensory impairment on the right side of his face. Two days after leaving the ICU, our patient started having brief electric shock-like pains in the whole distribution of the first division (V1) of the right trigeminal nerve. Pain attacks fulfilled diagnostic criteria for symptomatic TN, according to the International Classification of Headache Disorders, 2nd edition (ICHD-II) []. They lasted for 3–5 s, occurred at least 10 times per hour, and were given a score of 8 out of 10 on a visual analogue pain intensity scale. No autonomic symptoms or trigger points were noticed. Between the painful paroxysms, the patient was free of pain. Treatment with gabapentin was initiated. While being on a dose of 300 mg t.i.d., the patient experienced a decrease in both pain frequency and intensity plus a restriction of the pain to a more circumscribed periocular area. When gabapentin was titrated up to 600 mg t.i.d, the pain was finally controlled. At discharge he maintained this dose and had no recurrences of the pain through a 2-month follow-up.


In January 2005, a 78-year-old male was referred from general practice to the Danish Headache Center for investigation and treatment of right-sided facial pain. He had a recurrent cancer in his right buccal region, and received curettage and electrodesiccation in August 2001, in January 2002, and in October 2002. Each time skin biopsies were obtained. The first and second biopsy showed basal cell carcinoma (BCC), and the third suggested SCC. He was subsequently examined twice (March 2003 and September 2004) by a dermatologist and declared clinically cured. In May 2003, he developed a white spot, numbness, and burning pain in the right buccal region. In September 2004, he complained of increased pain and experienced pain after non-painful stimuli (allodynia) in the region supplied by the maxillary branch of the trigeminal nerve. In October 2004, he developed incomplete right-sided facial nerve palsy (decreased nasolabial fold). In February 2005, MRI scans with focus on the fifth and seventh cranial nerves and cerebrospinal fluid (CSF) examinations were unremarkable. The patient complained of constant burning and intermittent stabbing facial pain with average intensity 7 (0–10 pain intensity numeric rating scale). He was treated with gabapentin (3,600 mg daily), codeine (125 mg daily), amitriptyline (50 mg daily) and ketobemidone (125 mg daily as need), but shortly after stopped with all medications because of adverse events. Two months later, he still complained of severe facial pain and developed diplopia. The patient was placed on pregabalin (450 mg daily) and reported a decrease in pain intensity by 40–50%. In May 2005, a neurological examination revealed unilateral (right sided) third and sixth cranial nerve palsies, complete loss of sensory function of the right trigeminal nerve (V1, 2, 3), temporal muscle atrophy, and ninth cranial nerve palsy. The perineural spread of his cutaneous cancer was suspected. A MRI scan showed no signs of perineural spread, and CSF and whole body positron emission tomography examinations were normal. A biopsy of the lingual nerve was unremarkable and a biopsy of the right supraorbital nerve showed axonal degeneration and subtotal loss of the myelinated nerve fiber, but no signs of perineural spread. A biopsy of the infraorbital nerve revealed infiltration of both blood vessels and nerve by SCC (Fig. ). In July 2005, MRI scans showed pathological perineural enhancement of the right maxillary nerve and around the cavernous sinus and the Meckel cave (Fig. ). A re-evaluation of the skin biopsies from 2001 to 2002 revealed SCC. The patient underwent radiation therapy without adjuvant chemotherapy over a period of two months. On a follow-up examination, 2 months after start of radiation, the neurological status and mild facial pain were unchanged. Three months later, the patient died of pneumonia.


A 32-year-old woman with a previous history of thyroidectomy for a multinodular goitre, within the past year, was under the supervision of a neurologist for weakness, symmetric eyelid ptosis, and a progressive loss of strength consistent with myasthenia gravis (MG). CT scan of the neck revealed a fatty infiltration of the thymus gland. The patient had a positive Tensilon test. The cardiac, thoracic, and abdominal examinations were unremarkable.
The patient started a therapy of 60 mg pyridostigmine, four times daily (Mestinon), achieving a partial clinical response but worsening of the symptoms (eyelid ptosis) after 3 months. IgG therapy (25 g/day for 5 days) was initiated, and a partial clinical response was achieved. This unusual course, in conjunction with a negative test for Ab-AchR, led to additional investigations.
The patient underwent a PET scan that revealed a “captatio” in the head of the pancreas. She was then referred to our Endoscopy Unit for an endoscopic ultrasound (EUS). EUS revealed a small hypoechoic lesion in the head of the pancreas, 9.3 mm × 8 mm, with regular borders (). The lesion was located near the pancreatic duct. The pancreatic body and tail were unremarkable. At the same time, a fine-needle aspiration biopsy (FNAB) of the lesion was performed with a 22 G needle, with 2 passes. After EUS, the patient underwent endoscopic retrograde cholangiopancreatography with sphincterotomy and pancreatic duct cannulation. We performed a pancreatic juice aspiration and conducted tests for serum carcinoembryonic antigen (CEA), chromogranin, and carbohydrate antigen (CA) 19.9.
Six hours after the procedure, the patient developed acute abdominal pain, with elevations in serum amylase and lipase. A CT scan revealed a dishomogeneous pancreatic parenchyma, which suggested edematous pancreatitis with abdominal, pleural, and pericardial effusion. Conservative treatment was performed with fast fluid resuscitation, gastric aspiration probe, and IV administration of piperacillin/tazobactam (4.5 g, twice). Chromogranin, CEA, Ca19.9, and neurone-specific enolase levels in the blood sample and pancreatic juice were within normal limits. Tests for 5-hydroxyindoleacetic acid and vanilmandelic acid in the urine were negative. The cytopathologist confirmed a well-differentiated neuroendocrine tumour in the sample obtained through FNAB (Figures , , and ). The patient was discharged after 2 weeks, and the surgeons planned for enucleation of the small lesion in the pancreatic head.
One week before surgery, we performed EUS with puncture of the lesion and insertion of Visicoil (IBA) to help localize the lesion during surgery. The patient underwent surgery with intraoperative ultrasound and successful localization of the lesion in the pancreatic head. The patient was discharged after 2 weeks, with a small pancreatic fistula that healed spontaneously in 2 weeks. Neurologist decided to discontinue Pyridostigmine 1 year after surgery, and the patient has been symptom-free for 3 years after-surgery.


A full-term baby girl, weighing 3 kg, appropriate for gestation, was born by emergency cesarean section done for fetal distress to a 26-year-old unbooked and unsupervised third gravida mother. Baby required resuscitation and the Apgar scores were 4 and 6 at 1 and 5 minutes, respectively. She was in respiratory distress after resuscitation for which she was admitted to the neonatal intensive care unit. Respiratory rate (RR) was 76/minute with subcostal and intercostal recessions and breath sounds were diminished over the right hemithorax. There were no dysmorphic features and the baby was not hydropic. Rest of the systemic examination was normal. An arterial blood gas analysis revealed respiratory acidosis with pH 7.18, HCO318 mmol, PaO-286 mmHg, and PaCO2 54 mmHg. The baby was administrated oxygen via nasal continuous positive airway pressure (CPAP); IV fluids and antibiotics were charted but there was progressive worsening and the baby had to be ventilated [synchronized intermittent mandatory ventilation (SIM V) mode]. An urgent bedside chest X-ray done within the first hour of birth revealed white out of right side with shifting of airway and heart to the left side
[]. Keeping in mind the possibility of pleural effusion, a diagnostic tap was performed and 50 ml of straw colored fluid was aspirated and chest tube was inserted which drained 500 ml of straw colored fluid. Following pleural drainage, the infant improved remarkably. Repeat X-ray chest showed full expansion of lungs at 24 hours of age [], and ultrasonography (USG) chest that was done showed minimal pleural effusion on the right side. Feeding was initiated on day 2. About 40-50 ml of fluid was drained over the next 2 days, which remained clear and nonchylous. Baby was weaned from the ventilator and extubated on day 3. The intercostal drain was removed on day 4. The pleural fluid analysis showed transudate fluid containing protein 1.6 g/l and sugar 86 mg/dl, Cl−90 meq/l, triglycerides 10 mg/dl, cholesterol 16 mg/dl, lactate dehydrogenase 110 IU/l, lymphocytes 50/βl; no microorganisms were seen on gram staining and pleural fluid culture was sterile, indicative of nonchylous pleural effusion. The Venereal Disease Research Laboratory (VDRL) test was negative. Computed tomography (CT) of chest was normal. The sepsis screen was normal. USG abdomen and skull were normal and baseline renal and liver function tests were within normal limits. The karyotyping of the infant was normal, i.e. 46, XX. A diagnosis of idiopathic unilateral nonchylous pleural effusion was made. The infant was started on feeds on day 2. She recovered fully with no recurrence of pleural effusion and was discharged on day 14 of life and was doing well on follow-up at 3 months.


A 58-year-old man presented acutely with clinical and radiological (plain abdominal X-rays) features of SBO. There was no significant past medical history. Past surgical history included cholecystectomy and emergency laparotomy for perforated appendicitis, which were performed years ago. On physical examination, he was hemodynamically stable. His abdomen was diffusely distended and tender, with no signs of peritoneal irritation. There were no palpable masses and bowel sounds were high-pitched. No external hernias were identified. All laboratory investigations were within normal limits, including hemoglobin concentration. Given that, adhesions were considered the most likely cause. Following an unsuccessful trial of conservative management including nasogastric aspiration and intravenous fluids for 48 hours; contrasted abdominal CT was performed on day 3. This revealed a mass in the ileocecal region [], for which he subsequently underwent right hemicolectomy. Histology revealed diffuse B-cell Non-Hodgkin’s lymphoma of the terminal ileum. The patient was referred for chemotherapy. Four years on, he remained disease-free.
Adhesive SBO accounts for about 1% of all emergency surgical admissions and 3.3% of all emergency laparotomies.[] It can occur any time following initial surgery.[] While management of uncomplicated adhesive SBO is largely conservative, the debate remains over the optimal duration for such non-operative management[] since only 8% of cases require surgical intervention. Confounding obstructive lesion of the intestine in patients with previous laparotomy is extremely uncommon. As adhesive SBO was the most likely diagnosis, our patient’s initial management was considered acceptable. Early high-resolution imaging may elucidate etiology and consolidate clinical management plans.[] In our patient’s case, early CT scan would have led to immediate laparotomy without delay. Therefore, if surgical intervention is deferred on clinical grounds, CT scan should be performed as soon as practicable, provided that there are no contraindications.


The patient was a thirty-year old clerk. She complained of an abnormal warm sensation in her left breast. She consulted her doctors regarding this problem, but was reassured that it was normal. Sixteen months later she noted a definite lump in her left breast, and an excision biopsy was done. The lump recurred two months later, and a similar procedure was performed. Both biopsies were reported as benign haemangiomas. The lesion recurred during the next two months and, this time, she approached our clinic. Physical examination revealed a mass which measured approximately 6 cm. She was advised mastectomy with immediate breast reconstruction. She refused, but one month later, returned to our hospital with a haemorrhaging lesion in the left breast (). She was found to be pale, but was haemodynamically stable. She underwent radiological embolisation of the lesion. The angiogram showed a tumour blush that had feeding arteries from branches of the left internal mammary artery and lateral thoracic artery. Embolisation of the feeding vessels was done using polyvinyl alcohol (PVA). Post-embolisation images showed complete occlusion of these feeding vessels (). She later consented for mastectomy. The tumour was completely excised and was reported as a grade 2 angiosarcoma. Radiotherapy of the chest wall was given, and investigations showed multiple lung metastases and bone metastases. She, however, refused palliative chemotherapy. Five months after mastectomy, she returned with right hypochondrium pain and abdominal distension. On clinical examination, she was pale. Her haemoglobin was 6 g/dl with a platelet count of 83 x 109/L. The low platelet count could be attributed to continuing platelet consumption due to formation of thrombi in the vascular metastatic lesions. Her abdomen was found to be grossly distended, tense, and tender. The fluid thrill test was positive. CT scan of the abdomen revealed multiple liver metastases with free fluid in the peritoneal cavity. The main hepatic artery was successfully embolised. Palliation of symptoms was achieved with analgesics, repeated peritoneal tapping, and blood transfusions. The patient also developed minor local recurrence on the chest wall, which fortunately did not bleed. Seven months after treatment and 28 months after initial excision biopsy, she deteriorated rapidly and passed away.


Mr SM is a 63-year-old Indian man with a history of diabetes mellitus and hypertension. He presented to the trauma and emergency department with a two-day history of dysuria, haematuria and suprapubic pain. He also reported having intermittent fever over the past week. Clinically, he was afebrile and his vital signs were stable. His abdomen was soft, revealing tenderness only at the suprapubic region.
His abdominal radiograph taken in supine position revealed an oval radiopacity measuring 4 x 4cm surrounded by a radiolucent rim at the region of the left kidney (). A provisional diagnosis of a gas-forming infection of the left kidney was made. Subsequent ultrasound revealed multiple echogenic lines associated with dirty shadowing (containing low-level echoes and reverberations) at the region of the sinus of the left kidney in keeping with gas formation. There was another echogenic focus with ‘clean’ shadow noted posteriorly in keeping with calculus. However, the exact position of the gas and calculus in relation to the left kidney and the pelvicalyceal system could not be delineated due to the presence of their shadows. At this time, it was imperative to rule out emphysematous pyelonephritis in this patient.
An urgent plain and contrasted CT abdomen and pelvis was performed. There was a large obstructing calculus noted at the left pelvi-ureteric junction causing gross left hydronephrosis with gas noted within the left pelvicalyceal system ( and ). However, there were no gas pockets or fluid collections seen within the left renal parenchyma or in the left perinephric tissues. The urinary bladder showed no presence of air as well.
Diagnosis of emphysematous pyelitis was made based on the CT findings. Subsequently an urgent left nephrostomy was arranged and was done later on the day of admission. Intravenous antibiotics (IV Cefobid 2g BD and IV Tazosin 4.5g) were commenced on the same day. Patient responded favourably to the treatment with no fever recorded in the ward. A left JJ stent was inserted and the patient was subsequently discharged. ESWL (extracorporeal shock wave lithotripsy) was planned for the patient on a later date.


A 15-year-old female was admitted to our department with the complaints of breathlessness, and off and on fever for 1 month. She came from a nonendemic zone of filariasis in Uttar Pradesh. The resting pulse rate was 92/min and blood pressure was 112/74 mmHg. There was no history of contact with a tuberculosis patient. Her physical examination revealed hard, mobile lymph nodes of size 2 × 2 cm approximately, present bilaterally in the cervical region, and pallor. On chest examination, there was stony dull note localized to the bilateral infrascapular, lower axilla. Rest of the systems were within normal limits.
Her blood examination revealed anemia, and hypoalbuminemia but normal total and differential leukocyte counts. Her chest x-ray revealed bilateral pleural effusion []. The pleural fluid was aspirated (about 2.0 l from left and 1.2 l from right) on both sides that revealed a milky white fluid. Then we thought about the chylothorax. Clearing of the pleural fluid by adding ethyl-ether into it leads to the exclusion of pseudochylothorax. The pleural fluid of both sides was sent for examination that revealed, for the right side, protein 4.2 g%, sugar 44 mg%, and total leukocyte count 3400 cells/mm3; differential leukocyte count was neutrophils 20, lymphocytes 80, pleural fluid triglyceride 535 mg%, and pleural fluid cholesterol 24.8 mg%; pleural fluid of the left side revealed protein 4.0 g%, sugar 40 mg%, and total leukocyte count 3280 cells/mm3; differential leukocyte count was neutrophils 34, lymphocytes 66, pleural fluid triglyceride 188.0 mg%, and pleural fluid cholesterol 24.0 mg% []. Serum triglyceride and serum cholesterol was 72.7 mg% and 71.9 mg%, respectively. The Ziehl-Neelsen stain of the pleural fluid was negative but Mycobacterium tuberculosis was isolated on the Lowenstein–Jensen culture. The pleural fluid culture for pyogenic organisms was sterile in nature on both sides. PPD showed no indurations. Her biopsy of the cervical lymph node revealed caseating granuloma, and the Bactec culture for M. tuberculosis was also positive in the cervical lymph node biopsy specimen. Her abdomen ultrasound also revealed multiple retroperitoneal and para-aortic lymphadenopathy. Thus a diagnosis of bilateral chylothorax secondary to tuberculosis with cervical lymphadenopathy was established.
To confirm the exact site of the thoracic duct tear, lymphangiography was planned but her parents refused for further investigations.
She was put on standard 6-month antitubercular treatment: a combination of isoniazid, rifampicin, pyrazinamide, and ethambutol was started for 2 months followed by isoniazid and rifampicin for a further 4 months. Following this, she showed clinical as well as radiological improvement and chylothorax resolved after 2 months of treatment [], and on regular follow-up she had no further symptoms.


A 30-year-old man, ASA I physical status, was scheduled for arthroscopic knee anterior ligament reconstruction. Spinal anesthesia was performed with the patient in the sitting position at the L4--L5 interspace, using a 26-gauge Quincke tip needle. About 60 s after injection of 8 mg (1.6 ml) of 0.5% hyperbaric bupivacaine, the patient complained of severe pain in the back and the gluteal region and developed myoclonic movements in the lower extremities. The patient’s arterial blood pressure increased to 160/100 mmHg and the heart rate to 120 beats/min. IV sedation with midazolam (3 mg) and fentanyl (100 μg) was administered immediately without effect. Consequently, general anesthesia was induced by the infusion of propofol (200 mg) and celocurine (100 mg), and the patient’s trachea was intubated. Anesthesia was maintained using propofol infusion (10 mg/kg/h) and Fentanyl (2 μg/kg/45 min) and surgery was continued. At the end of surgery and 5 mins after the propofol infusion was discontinued, recurrent polymyoclonus and seizures developed. Clonazepam (1 mg) and phenobarbital (800 mg) were administered and continuous sedation using midazolam and fentanyl was started. Accidental intrathecal injection of the wrong drug was suspected and a used ampule of TXA was found in the trash can [Figures and ]. The patient was transferred to the intensive care unit about 2 h after the injection and mechanical ventilation with volume controlled ventilation mode was continued. Central venous and arterial lines were inserted to the patient. The first postoperative arterial blood gas analysis revealed metabolic acidosis (pH = 7.3, PaO2 = 183, PaCO2 = 35, HCO3- = 17.7). The blood analysis did not reveal any renal, hepatic, or hematological failure. The patient experienced tonico-clonic convulsions in the upper extremities and the face 3 h postoperatively, which were treated by an infusion of sodium thiopental (3–5 mg/kg/h). Gastric administration of Phenobarbital 200 mg daily was initiated. Cranial computed tomography was without abnormalities.
A prophylactic infusion of cordarone at the rate of 10 mg/kg/24 h was administered for 24 h, in order to prevent ventricular arrhythmia. The patient developed several episodes of ventricular tachycardia that regressed spontaneously.
On the second postoperative day, the sedation was arrested. The patient’s level of consciousness increased. He moved his head and upper extremities with painful stimulus, deep tendon reflexes were absent in the lower extremities. On the third postoperative day, he opened his eyes to voice commands, obeyed to simple orders and breathe spontaneously. Tracheal was extubated. Finally, on the fourth postoperative day, all neurologic examinations were normal. The patient was discharged from the intensive care unit and on the sixth day was subsequently discharged from the hospital without neurological sequelae. Six months later, neurological evaluation was still normal.


A 46-year-old man in good physical health was admitted to another hospital following a car accident. Some days after the trauma, he was sent to our surgery center. The patient presented an impacted fracture of the posteroinferior articular surface of the acetabulum with comminution of the quadrilateral lamina. Both anterior and posterior columns were intact. Surgical treatment was performed using the Kocher–Langenbeck approach, and the patient was placed in the prone position. The posterior column of the acetabulum did not show cortical interruption, and so a small hole was made using the scalpel to lift up the posterior wall. When the impacted fragment was retrieved, an autologous bone graft from the greater trochanter was used to fill the bone defect. The osteochondral fragment was repositioned. After filling the bone, the fragment was unstable due to quadrilateral lamina comminution and ischiatic bone fracture. A four-hole plate was shaped like a bracket to hold the osteochondral fragment in place because it tended to fall out. Then the plate was locked with a screw in the ischiatic bone. In addition, the fragment of posterior wall made by the osteotomy was replaced and stabilized with a six-hole plate. Postoperatively, a computed tomography (CT) scan was performed to check the position of the impacted fragment.
Three years after surgery, the patient had a normal hip range of motion without pain. No limitation in activities of daily living was reported, and now the patient plays American football. The patient gave his consent to publish this case report.


A 40-year-old male of Chinese ethnicity received allogeneic filgastrim-mobilised peripheral blood HSCT from his HLA 6/6 matched sister using reduced-intensity conditioning regimen. He was in his first complete remission from underlying B-cell prolymphocytic leukemia that had been diagnosed 6 months earlier. The course of transplantation was complicated by steroid-refractory grade III acute GVHD of the liver that began 7 months post-transplantation, requiring intensive immunosuppressive therapy with prednisolone followed by subsequent addition of other immunosuppressive agents including tacrolimus, mycopheolate mofetil and sirolimus for steroid-sparing purposes. He continued to receive dapsone and acyclovir prophylaxis, but was not on any antifungal prophylaxis.
In December 2007, at 9 months post-transplantation, he presented with acute-onset dry cough and shortness of breath following close contact with a client who had an upper respiratory tract infection (URTI). The initial chest X-ray was unremarkable with no evidence of pneumonia. His symptoms worsened over the ensuing few days, culminating one week later in acute respiratory failure requiring hospitalization and non-invasive mechanical ventilation in the intensive care unit (ICU). The patient was afebrile, with bilateral respiratory rhonchi on chest auscultation. Laboratory studies showed normal blood counts, renal and liver function. A chest x-ray () showed patchy bilateral lower zone and right upper zone air-space changes.
High resolution computed tomography (HRCT) of the thorax () showed bilateral extensive, circumscribed areas of ground-glass opacification throughout both lung fields associated with a fine reticular pattern in keeping with pneumonitis. There were no nodules or pleural-based lesions to suggest a concomitant invasive fungal infection. Empirical antimicrobial therapy with intravenous levofloxacin and trimethoprim/sulfamethoxazole was prescribed for community-acquired bacterial pneumonia and possible pneumocystis jiroveci pneumonitis. Oseltamivir (Tamiflu) was added as the possibility of influenza-associated pneumonia was entertained.
All microscopy and cultures of clinical samples were negative for aerobic bacteria, acid-fast bacilli or fungi. Reverse-transcriptase polymerase chain reactions (PCR) performed on nasopharyngeal specimens were positive for RSV, although viral culture from the same swab was negative. Serial serum galactomannan screening and quantitative real-time PCR for cytomegalovirus DNA from peripheral blood were all negative. Diagnostic bronchoalveolar lavage (BAL) was not performed at this point owing to the concern of worsening hypoxemia.
The patient’s overall condition improved gradually over one week, with reduced oxygen requirement and dyspnea. However, a repeat HRCT thorax () 4 weeks later showed new cavitary lesions. Nonetheless, a conservative approach of close clinical monitoring and radiological follow-up was adopted as the serial serum galactomannan tests remained negative and the patient’s overall clinical condition continued to improve. He was discharged one week following the second HRCT.
However, he was re-admitted 10 days later with acute onset right pleuritic chest pain, dyspnea and diaphoresis. Chest x-ray () and CT thorax () showed enlarged thick-walled cavitary lesions in both lungs, with a moderate-sized right pneumothorax. Following chest tube insertion, he was transferred to the ICU for invasive mechanical ventilation. Thoracotomy with right upper lobectomy was subsequently performed. The histology was consistent with IPA, while lung tissue cultures grew Aspergillus fumigatus. He was prescribed voriconazole, which was continued for 6 months. Serial CT thorax showed gradual regression of the left pulmonary cavitary lesion and complete resolution of the ground grass changes. His respiratory symptoms improved despite receiving continued immunosuppressive therapy for his ongoing extensive chronic GVHD.


A 32-year-old male patient was admitted for urethroscopy and laser core through for stricture urethra. He did not give any history of palpitation, dyspnoea on exertion, syncope, dizziness or chest pain. On examination, patient had a pulse rate of 84 beats/min with occasional missed beats (4-5 per minute) and non-invasive blood pressure (NIBP) of 136/88 mmHg. On auscultation, chest was normal. ECG was suggestive of WPW syndrome (delta wave with broad QRS) with 4-5 ventricular ectopics []. Chest X-ray was normal. Echocardiography revealed normal valves, no regional wall motion abnormality with an ejection fraction of 55%. Holter evaluation revealed baseline sinus rhythm, WPW syndrome with right-sided pathway. Maximum heart rate (HR) achieved was 127/min with occasional ventricular premature beats.
Patient was premedicated with oral diazepam 10 mg the night before and on the morning of surgery. In the operation room, standard monitors (ECG, NIBP and pulse oximeter) were attached. The ECG showed normal sinus rhythm (NSR) with HR of 92-94 beats/min and occasional premature ventricular ectopics (4-5/minute). The 18-G intravenous was secured and 500 mL of ringer lactate was administered. The subarachnoid block was administered with 7 mg hyperbaric bupivacaine (0.5%) and 20 mcg fentanyl (total volume 1.8 mL) using 25-G pencil point spinal needle. The maximum sensory level achieved was T8. Supplemental oxygen was provided via face mask and midazolam (1 mg) was administered intravenously. Lithotomy position was made for the surgical procedure. After 30 minutes of surgery, ECG rhythm showed few slurred QRS rhythms with delta wave for 2 minutes with intermittent NSR followed by continuous rhythm suggestive of WPW syndrome []. At this time HR was 72 beats/min and NIBP was 132/82 mm Hg. Oxygen saturation (SpO2) was maintained (98%). After 75 minutes, patient complained of slight discomfort in the back (probably because of the position) with increase in HR to 102 beats/minutes and NIBP of 130/80 mmHg. At this time, spinal block level was T8. The ECG rhythm changed to NSR for few seconds [] and again reverted back to WPW rhythm with HR 80-90 beats/min [] which remained till the end of surgery. During this period the NIBP ranged from 122 to 138/70-84 mmHg. The surgery lasted for 120 minutes. Two minutes before the end of procedure, the patient started feeling discomfort due to bladder expansion, which did not required further supplementation. After the surgery patient was shifted to post-anaesthesia care unit where 12 lead ECG revealed WPW syndrome rhythm with stable haemodynamics. Repeat ECG (12 hours and 48 hours, postoperatively) revealed NSR. Patient had an uneventful recovery.


A 12-year-old premenarche girl presented with bilateral, rapidly enlarging breast lumps for three months (). There was history of dull ache in the breasts. There was no family history. History of trauma, nipple discharge, fever, anorexia, or weight loss was absent. On local examination bilateral slightly tender, huge, well-circumscribed masses in both the breasts were seen, which were firm in consistency. The overlying skin was tense and shiny with prominent superficial veins. The right breast lump measured 15 × 12 cms and left breast lump measured 17 × 15 cms. On both the sides, the lumps were not fixed to underlying structures. There was no discharge from the nipple, and axillary lymphadenopathy was absent. Routine hematological and biochemical examinations were within normal limits. Chest-X ray was normal. Ultrasonography was carried out which showed heterogenous parenchymal pattern suggestive of bilateral fibroadenoma. The patient was subjected to fine-needle aspiration cytology (FNAC) of bilateral breast lumps which revealed cellular smears comprising of many branching monolayer sheets along with myoepithelial cells ().
Background showed bare nuclei and myxoid stromal fragments. Based on the cytological findings, diagnosis of benign proliferative lesion without atypia suggestive of bilateral fibroadenomas was given. The patient underwent total excision of bilateral breast lumps conserving the normal breast tissue, nipple, and areola by the plastic surgeon. The two resected specimens were sent for histopathological study in the department of pathology. The right-sided excised lump measured 15 × 12 × 6.5 cms and weighed 800 gms. The left-sided excised lump measured 17 × 15 × 5 cms and weighed 950 gms. Overlying skin was unremarkable. External surface was bosselated, and both the lumps were well circumscribed and encapsulated (). Cut sections from both the lumps showed multiple gray white nodules showing myxoid, gray white appearance along with occasional slit-like spaces and tiny cysts ().


A 27-year-old man complained of 2-month history of nasal stuffiness, epistaxis and maxillary sinus pain. One month later, he developed painful swellings over the outer part of both eyes. He was diagnosed elsewhere as presumed lid abscess and managed with antibiotics (amoxicillin-clavulanic acid) and drainage of purulent material from these swellings. He presented to us after another month with recurrence of eye swelling along with new development of dry cough. There was no history of redness of eyes, blurring of vision, diplopia, dry eyes, hemoptysis, dyspnea, fever, oliguria, hematuria, skin rash, tingling, burning or weakness in extremities, headache, seizures or altered sensorium. Examination revealed bilateral S-shaped swelling diagnosed as lacrimal gland swelling [] by our ophthalmologist. There was bilateral ptosis but no ophthalmoplegia or Horner’s syndrome. There was no uveitis or retinal involvement. The patient was normotensive and systemic examination was unremarkable. Investigations revealed polymorphonuclear leukocytosis and thrombocytosis. Complement proteins C3, C4 and renal functions were normal. Urine examination revealed active sediments [white blood cells (WBC) 20-25/high power field (HPF), red blood cells (RBC) 6-8/HPF], but no albuminuria. Chest radiography and computerized tomography (CT) scan showed nodular and cavitating lesions [Fig. , ]. CT orbit did not reveal any retro-orbital mass. Culture of pus from past incisions over lacrimal gland did not reveal any organism. Incisional biopsy done from lateral aspect of left lacrimal gland swelling showed fibro-areolar tissue with necrotizing granulomatous vasculitis[]. Positive cytoplasmic-antineutrophil cytoplasmic antibody (c-ANCA) and high serine proteinase-3 levels (366 U/ml; normal <16 U/ml) confirmed the diagnosis of WG. The patient was treated with initial regimen of daily oral cyclophosphamide (2 mg/kg) and oral prednisolone (1 mg/kg) which was gradually tapered after initial remission was obtained.
A month later, there was complete regression of lacrimal gland swelling, but left-sided ptosis [] continued to persist. He also developed marked dryness of eyes and Schirmer’s I test was positive (2 mm wetting in both the eyes after 5 minutes). There was no dry mouth, diplopia or ophthalmoplegia. Antinuclear, anti Ro and anti La antibodies were negative. There was complete regression of lung cavities with the above treatment after 3 months. After 1 year of follow-up, the patient was in complete remission with no recurrence of lacrimal gland swelling or lung lesions. However, ptosis of the left eye and ocular dryness continued to persist and the patient required frequent instillations of artificial tear drops.


A 45-year-old South Indian man underwent a renal allograft transplant for end-stage renal disease. He was administered tacrolimus, mycophenolate and prednisolone as immunosuppressive therapy. On follow-up at six months, he complained of a small, painless nodule on his right calf. He had no fever, redness or pruritus. He had no other opportunistic infection. Clinical examination revealed a subcutaneous, 2 × 2-cm, firm, violaceous nodule with normal surrounding skin (Figure ). He had no other similar lesions. There was no regional lymphadenopathy. The rest of the physical examination was normal. His hemogram was normal, as were his computed tomographic chest and abdominal ultrasound scans. He underwent fine-needle aspiration of the nodule, which was reported to have inflammatory cells and a few fungal hyphae. He subsequently underwent excision of the nodule, which was sent for microbiological evaluation. The finding was reported to be Fusarium solani.
A biopsy sample was cultured for fungi on Sabouraud dextrose agar without cycloheximide and was incubated at 25°C in air for four days. It grew whitish-gray cottony colonies suggestive of Fusarium spp. Successive subcultures performed on potato dextrose agar in the dark stained with periodic acid-Schiff showed sickle-shaped, multiseptated macroconidia, and one- to two-celled microconidia had formed from unbranched phialides, conidiophores and chlamydospores typical of Fusarium solani (Figure ).
Subsequently, species identification was further performed using immunohistochemistry (Figure ). The patient was successfully treated with surgical excision of the lesion followed by four weeks of oral voriconazole treatment.


A 35-year-old woman presented to our emergency department with epigastric pain and melena for two weeks. Abdominal pain was described as sharp in character, severe in intensity, and worse after eating food. Patient also reported nausea, vomiting, and some red blood in the stool for two days. Medical history included gastroesophageal reflux disease, herniated disk, migraine headache and depression. Prior medications included nonsteroidal anti-inflammatory drugs. Physical examination was unremarkable except for epigastric tenderness. Laboratory data showed hemoglobin of 9.2 g/d with iron deficiency. Nasogastric lavage did not reveal any active bleeding. With an initial impression of possible upper gastrointestinal lesion an upper gastrointestinal endoscopy was performed. It did not reveal any pathology to explain etiology of melena. A colonoscopy performed revealed a nonobstructing superficially ulcerated mass in the cecum (). Biopsies of this mass only revealed an ulceration of the colonic mucosa without any evidence of malignant cells. A computerized tomography scan of the abdomen identified a 4 × 4 × 3.5 cm mass in the cecum. Surgical consultation was obtained. After discussion with the patient and her family a right hemicolectomy was performed. Operative findings revealed a large cecal mass, mesenteric lymphadenopathy, and normal liver without evidence of any peritoneal metastasis. Gross examination of the right hemicolectomy specimen showed a polypoid, well-circumscribed intraluminal firm cecal mass, measuring 4.2 × 4 cm. The cut surface was homogenous tan to yellow with no necrosis or hemorrhage (). Microscopically, the tumor was comprised of cellular spindle cells arranged in fascicular and nodular pattern. The nuclei are ovoid with pointy ends. No increased mitotic activity or necrosis was seen (). The tumor was surrounded by a prominent lymphoid cuffing. On immunostains the tumor cells were strongly and diffusely positive for S-100 protein () and negative for CD34, SMA, Desmin, C-Kit [CD: 117], and DOG-1. A pathological diagnosis of cecal schwannoma was made. Postsurgical recovery was uneventful. Subsequent followup in the clinic was unremarkable for any new gastrointestinal symptoms.


A 46-year-old Caucasian woman was referred to our clinic with a 12-month history of hoarseness and progressive difficulty in breathing. Weeks prior to surgery she developed minor dysphagia which, in combination with the earlier symptoms, convinced her to seek medical advice and treatment. Past medical history included smoking (20 cigarettes per day), with no other significant co-morbidity.
On examination, she had an easily recognized right neck mass, which in palpation felt soft, mobile and non-pulsatile. There were no lymph nodes or other masses nearby. She also had a noticeable breathy dysphonia. On flexible nasendoscopy, there was a large well-defined supraglottic lesion partially obstructing her vocal cords, which were anatomically and functionally intact. An urgent neck computed tomography (CT) scan was ordered, which revealed an extensive cystic supraglottic mass with no further anomalies of the larynx (Figures and ). She was urgently scheduled for surgical management. Her pre-operative tests were of no significance. On airway assessment, Mallampati score was found to be (II), her jaw movement was not limited and thyromental distance was more than three finger breadths. Nevertheless, a fiberoptic intubation kit was arranged as back-up for the induction and the whole procedure.
On the day of the operation, our patient had no premedication. The plan was to induce our patient and test the ability to bag-mask ventilate before administration of a muscle relaxant. The option of awake intubation and gaseous induction was offered, however our patient refused it. An emergency tracheotomy kit was readily available as a last option. Following pre-oxygenation, midazolam 2 mg, fentanyl 100 μg and propofol 200 mg were administered and manual ventilation ability was assessed. It proved to be feasible and subsequently suxamethonium 100 mg was given. Conventional laryngoscopy was attempted at that stage that showed a Cormack and Lehane view Grade IV. Due to the readily available equipment we proceeded down the fiberoptic intubation route. The oral route was chosen to avoid extra tissue trauma that could affect visibility. The initial view was that of a mass obstructing all the structures in the supraglottic area. There was a need for manipulation with the tip of the scope to bypass it as non-traumatically as possible in order to get a view of the vocal cords. Insertion of the tube (flexible size 7.0id) was uneventful. As a result, her airway was secured and we proceeded to the operation. Maintenance of anesthesia was achieved with an oxygen and nitrous oxide mix (65% to 35% respectively) and sevoflurane 1.9%.
The mass was excised with an external approach (Figure ). This method was preferable to a laser endoscopic vestibulectomy, as it appears to be more efficient in the management of huge cysts []. No intra-operative difficulties were faced. At the end of the procedure and just before extubation, conventional laryngoscopy was performed both to confirm airway patency and facilitate suctioning under direct view. The Cormack and Lehane grade this time was Grade I, which was very reassuring for the extubation and recovery period. Both were uneventful.
Inspection of the lesion revealed a brownish soft mucosal lined sac sized 5.5 × 2.9 × 4 cm which contained mucus. A histopathology report confirmed the diagnosis of a cyst lined with pseudostratified columnar respiratory epithelium and focal presence of intracellular and extracellular mucus production (saccular laryngeal cyst). No evidence of cancer cells in the specimen was found. At follow-up eight months later there was no recurrence.


The patient was a 44-year-old Caucasian male with no significant past medical history who initially experienced episodes of right lower extremity weakness lasting 2-3 minutes that first occurred in June 2010. He had 2 such episodes in early June and within a few weeks was experiencing 5-6 episodes weekly. Shortly thereafter he noticed impairment in fine motor skills of the right leg with inability to put on shoes, word-finding difficulty, and severe headaches that awoke him from sleep. He was seen by his primary care physician, and MRI demonstrated a 2.7 × 2.5 × 3.1 cm brain lesion arising from the meninges (). He was informed of the imaging results and the following day developed a seizure that started focally in his right arm and leg before becoming generalized.
He was evaluated in the emergency room and admitted to the hospital for further evaluation and management. Surgical resection was performed July 2010 with pathology initially interpreted as an anaplastic meningioma. Complete resection was not possible given extensive invasion into the sagittal sinus. Postoperatively, the patient reported right-sided motor impairment that improved dramatically with physical therapy. His headaches and word-finding difficulty resolved completely postoperatively, and he was discharged from the hospital on postoperative day no.3. A brain MRI obtained 10 days following surgery showed a left frontoparietal vertex resection cavity measuring 2 × 1.5 cm with enhancement anteriorly and posteriorly.
He presented to our institution for an opinion regarding further therapy. On exam, he was noted to have right upper and lower extremity weakness and wide-based gait with right foot drop. Pending review of pathology, we tentatively recommended highly conformal radiotherapy. Pathologic review confirmed a high-grade sarcoma consistent with rhabdomyosarcoma (). Tumor cells were found to express myoD1 (), desmin (), and myoglobin. There was no evidence of meningothelial, glial, or neuronal component. Fluorescence in situ hybridization was performed, and the typical gene rearrangement (t2:13) seen in alveolar rhabdomyosarcoma was not visualized. Additional staging studies, including PET imaging, spine MRI, bone marrow biopsy, and lumbar puncture, were obtained, showing no evidence of metastatic disease.
After generating a variety of radiotherapy plans, a volumetric modulated arc therapy (VMAT) plan utilizing a Novalis Tx linear accelerator system (Varian Palo Alto, Calif, USA and BrainLAB, Munich, Germany) was ultimately selected in order to maximize target coverage while minimizing normal tissue toxicity. In addition, we offered concurrent temozolomide as a radiosensitizer []. The primary target volume encompassed contrast-enhancing tumor on T1-weighted preoperative MRI, uniformly expanded by 5 mm and further customized to extend 2-3 mm further along the meninges in all directions. The boost volume included the resection cavity, including areas of anterior and posterior postoperative enhancement on MRI, with 3 mm expansion and was customized to extend along the meninges in all directions. We prescribed 5040 cGy in 180 cGy fractions to the primary target volume followed by an additional 900 cGy boost in 180 cGy fractions to a total dose of 5940 cGy. The blue- and green-shaded volumes represent the primary and boost volumes, respectively. The thickened yellow and cyan lines signify the 5040 cGy and 5940 cGy isodose lines, respectively (). Critical normal tissues, including the brainstem, optic chiasm, optic nerves, and eyes all received minimal dose.
The patient tolerated chemoradiation well. Aside from mild fatigue, he developed headaches during treatment which improved with a low dose of steroids that was gradually tapered. Blood counts remained stable throughout radiotherapy. At the conclusion of chemoradiotherapy, the patient began systemic therapy, consisting of vincristine, actinomycin-D, and cyclophosphamide (VAC) per standard treatment for rhabdomyosarcoma.