A 57-year-old man underwent right radical and left partial nephrectomy to treat stage III (pT3N0M0) and stage II papillary RCC (pT2N0M0), respectively, in January 2007. Thereafter, his renal function became impaired; his blood urea nitrogen level was 88 mg/mL and his creatinine level was 8.5 mg/mL. Hemodialysis was commenced, three times a week, in May 2007. Three years later, multiple metastatic lesions appeared in the lungs. He also developed additional lymph node metastases in the retroperitoneum and multiple lesions in the liver. Biopsies of the liver masses revealed the presence of mRCC. His prognostic risk category was high, as defined by the Memorial Sloan-Kettering Cancer Center (MSKCC) risk model, with a Karnofsky performance status of 70%, a serum hemoglobin level of 12.1 mg/mL, a serum-corrected calcium level of 10.7 mg/mL, and a serum lactate dehydrogenase (LDH) concentration of 568 U/L. Twenty-five milligrams of sunitinib was administered orally, on a daily basis, for 4 weeks of every 6, commencing in July 2010. Several toxicities, including facial edema, yellowish skin pigmentation, mucositis, hypertension, and general weakness, were manageable (grades 1-2). However, no attempt was made to increase the dose because of a gradual increase in anemia (from grades 1-4) associated with a requirement for frequent packed red blood cell infusion and increasingly problematic chronic fatigue and general weakness. There was no evidence of hypothyroidism. Computed tomography conducted after two cycles of treatment showed that his disease was progressive. Sunitinib was discontinued in November 2010.


An 80-year-old female patient underwent left radical nephrectomy after a diagnosis of stage II clear cell carcinoma of the left kidney (pT2N0M0) in 2002. The patient was put on a hemodialysis program (three times per week) 6 years after nephrectomy. Her medical history included essential hypertension, which had been controlled with amlodipine (5 mg/d), for 10 years. In February 2009, she complained of pelvic and lower extremity pain. Abdominopelvic magnetic resonance imaging (MRI) revealed a lytic lesion with dimensions of 7 cm×6 cm at the sacrum. Systemic screening did not reveal any additional metastatic site. Histopathologic evaluation of the lesion showed clear cell RCC metastasis. Although radiotherapy was delivered to the sacrum, the patient was referred to our department for further evaluation because the lytic lesion became enlarged 8 months after radiotherapy. The prognostic risk category was intermediate, as defined by the MSKCC risk model, with a Karnofsky performance status of 90%, a serum hemoglobin level of 10.6 mg/mL, a serum-corrected calcium level of 9.4 mg/mL, and an LDH level of 216 U/L. Twenty-five milligrams of sunitinib was prescribed daily, commencing in March 2010. On the 15th day of treatment, acute pulmonary edema developed as a result of uncontrolled hypertension. Sunitinib could not be continued, but 15 days later, MRI showed that the disease was stable. She refused further oncologic treatment and 10 months after sunitinib withdrawal, she has not developed any new metastatic lesion or progressive disease in the sacrum.


A 76-year-old woman with primary peritoneal cancer and multiple lymph node metastases received 6 cycles of paclitaxel and carboplatin. After the 6 cycles of chemotherapy, partial response was achieved. Six months after her last chemotherapy cycle, she was admitted to the hospital because of sustained nausea and general weakness, which she had experienced for several months. Chest and abdominal-pelvic computed tomography scans showed that peritoneal metastasis and lymph node metastasis had progressed. Her serum CA-125 level was elevated (1,655 U/ml). She received continuous parenteral nutrition because of intractable nausea. Four days after admission, she developed disorientation and dizziness, which were followed by ataxia and diplopia. A neurologic examination indicated that she had ophthalmoplegia. Her laboratory findings were as follows: white blood cell count 6.59 × 109/l, hemoglobin 12.0 g/dl, hematocrit 35.8%, blood platelet count 230 × 109/l, serum total protein 6.1 g/dl, albumin 3.3 g/dl, glucose 111 mg/dl, aspartate aminotransferase 21 IU, alanine aminotransferase 14 IU, blood urea nitrogen 9.0 mg/dl, creatinine 0.15 mg/dl, Na 139 mm, K 4.6 mm, Cl 107 mm, and Ca++ 0.98 mg/dl. There was no evidence of systemic infection or brain metastasis. Magnetic resonance imaging (MRI) of the brain showed hyperintensity in the mammillary body, medial aspects of both halves of the thalamus, cerebral aqueduct, tectal plate, and dorsal medulla on T2 fluid-attenuated inversion recovery (FLAIR) images (fig. ). The patient's serum thiamine level was 2.0 μg/dl (normal range 2.0–7.2 μg/dl). These findings were consistent with Wernicke encephalopathy. Thiamine (100 mg) was urgently administered intravenously, and ataxia and diplopia improved 2 days after thiamine injection. The other symptoms improved gradually. Fifteen days after the thiamine injection, she had recovered from her symptoms but displayed anterograde amnesia and disorientation with respect to time. A follow-up MRI scan of the brain showed improvement in the abnormal lesion (fig. ).


A 33-year-old female presented to us with left flank pain and ultrasonography suggestive of left suprarenal mass. Present and past medical history was unremarkable. Computed tomography (CT) scan revealed a large left suprarenal mass which was well-marginated with homogenous low CT attenuation, non-enhancing, and free from surrounding structures []. Preoperative endocrine evaluation was normal. A diagnosis of non-functioning suprarenal tumor probably benign was presumed. Definitive extirpation was planned through laparoscopic approach.
Patient was positioned in right lateral decubitus. Access was obtained through transperitoneal route. Four ports were utilized. A large suprarenal mass was identified encroaching medially beyond the medial border of aorta, superiorly abutting the diaphragm, laterally extending up to the parietal wall and displacing the kidney inferiorly []. Peritumoral plane was defined and dissection was carried out along this plane. Spleenopancreatic complex was released from lateral attachments and surface of tumor using harmonic scalpel through 5 mm lateral port. Dissection was continued with meticulous attention to hemostasis []. The adrenal vein was identified and control was achieved at the confluence with left renal vein. A plane of cleavage was defined between the aorta and the neoplasm and the attachments were freed along this plane. The lesion could be completely extirpated laparoscopically. Duration of surgery was 250 minutes. Estimated blood loss was 230 milliliters. Specimen was extracted through pfannenstiel incision. No significant intraoperative or postoperative happenings were recorded. Patient tolerated orals on first postoperative day. Drain was removed on the second day and the patient was sent home on the following day. On gross inspection, the specimen appeared bosselated with intact capsule measuring 17 × 11 × 7.5 cm []. Microscopic features were suggestive of GN, mature subtype of adrenal gland.


A 4-month-old female baby was brought to the pediatric emergency (ER) department of our hospital with complaints of fever and cold of two days duration, and upward deviation of eyes with tonic-clonic movements of the extremities since one hour. Past history revealed that she was born at term by normal vaginal delivery to a primigravid mother. Her birth weight was 3.25 kg and she cried immediately after delivery with no antenatal, intranatal and postnatal complications. She was immunized and had attained milestones as per the age. There was no history of diarrhea and rash. Initial examination at the emergency showed active convulsions, fever (39°C rectally), respiratory rate 46/min, heart rate 160 beats/min, blood pressure 100/60 mm Hg, capillary refill two seconds, weight 5.3 kg, bilateral symmetrical chest movements, no organomegaly with normal bowel sounds. Central nervous system examination revealed no focal deficits. Her anterior fontanelle was flat with increased tone and exaggerated reflexes. Ultrasound of the cranium was normal.
The child was immediately intubated for airway protection and shifted to the pediatric intensive care unit (PICU). Intravenous (IV) ceftriaxone and amikacin were initially started. Lumbar puncture (LP) was done which revealed a grossly turbid cerebrospinal fluid (CSF) with a total WBC count of 14,120/mm3, of which 87% were neutrophils. CSF protein was elevated to 564 mg/dl and sugar was 10 mg/dl. CSF gram stained showed gram-negative bacilli which on culture grew Salmonella sp. sensitive to ampicillin, chloramphenicol, cotrimoxazole, ciprofloxacin, ceftriaxone after 48 hours of incubation. This isolate was sent to National Institute of Cholera and Enteric Diseases, (Indian Council of Medical Research) Kolkata, which was identified as Salmonella typhimurium. In view of this unusual isolate, immunological deficiency was considered and was worked up accordingly. Her chest X-ray showed a normal thymic shadow. Her serum calcium and immunoglobulin levels were within normal limits.
The initial antibiotic therapy was later revised to ceftriaxone, chloramphenicol and ciprofloxacin based on CSF culture and sensitivity reports. She was also started on antiepileptic drugs in view of refractory seizures. Other laboratory investigations revealed hemoglobin 10.4 g/dl, total leucocyte count of 14,270/mm3 (neutrophils 75%, lymphocyte 22%) and platelet count of 1,09,000/mm3. Her coagulation parameters were within normal ranges. Stool and blood cultures were negative for Salmonella. By day nine, when the child showed signs of neurological improvement, antiepileptic drugs were tapered and the child was extubated and eventually shifted to the ward. The baby was continued on intravenous ciprofloxacin, ceftriaxone and chloramphenicol. Computed tomography (CT) scan of brain done on day 13, showed left middle cerebral artery territory (MCA) infarct. The child developed respiratory distress and developed new infiltrates on chest X-ray. On day 25, the child was shifted back to PICU in view of worsening respiratory distress, intubated and put on mechanical ventilator. A chest X-ray showed worsening with right lung haziness suggestive of consolidation of the entire right lung and left lobe opacity. Nosocomial pneumonia was suspected. Antibiotics were further revised to inj. meropenem, polymyxin and linezolid. The organism isolated from her endotracheal aspirate was Acinetobacter species which was managed with appropriate antibiotics. Despite all efforts her condition continued to deteriorate secondary to nosocomial pneumonia and she died on day 38 of admission


Our patient is a 37-years-old woman with a history of chronic abdominal pain since 2004. Anti-endomysial antibody (Ab) of isotype IgA (16 u/mL), and anti-gliadin antibody of isotype IgA (67 u/ml), and IgA tissue transglutaminase antibody (186 u/mL) was present in the serum. Gastric and duodenal biopsy documented chronic gastritis associated with Heliobacter pylori and chronic duodenitis, but not celiac disease-related pathological findings. Gluten-free diet (GFD) was started and her GI symptoms subsided, so diagnosis of celiac disease was made.
In her past history, about 18 years ago, her left-eye became ophthalmoplegic and without a definite diagnosis, after corticosteroid therapy, it was recovered completely within 1 month. Five years ago, she suffered from diplopia that was binocular and continued until now. Few months before, she became ataxic. She thought that it has been related to diet. Although, it evolved and established completely within a few days, so she met a neurologist and her brain MRI showed demyelinating plaques compatible with multiple sclerosis [], without any structural abnormality in cerebellum []. Her visual evoked potentials (VEP) were abnormal too (delayed responses with normal wave configuration). Oligoclonal band was seen in CSF examination. Therefore, the clinical diagnosis of MS was made and Avonex (Beta interferon 1-a, IM, weekly) was introduced to her. Till now, she has not had any relapse, and her neurological disability (EDSS) is fixed.
Now, she has episodic ataxia and slurred speech especially whenever she is tired. On neurological examination, she has binocular diplopia and fine horizontal nystagmus when she looks to the left side. Her plantar reflexes are upward.
Abdominal reflexes are not detectable and her deep tendon reflexes are symmetric and exaggerated (3+). Her gait is ataxic and she falls when turns rapidly. Other neurological examinations are not remarkable.


A 39-year-old female, diagnosed case of chronic kidney disease on maintenance hemodialysis (HD) for the past 9 years with severe PAH secondary to chronic pulmonary thromboembolism (PTE) presented with the complaints of progressive breathlessness and abdominal distension for the past 1 week. Her history was suggestive of Grade III dyspnea with orthopnea. There was no history of fever or cough; blood pressure [BP] 92/46 mmHg, pulse rate [PR] 96/min, respiratory rate [RR] 36/min). Her recent records showed recurrent hypotension during her last few HD sessions.
Considering her non-tolerance to HD, it was planned to start her on peritoneal dialysis (PD). During the first cycle of PD, she developed severe hypotension and altered sensorium (after inflow phase). She was then shifted to intensive care unit (ICU) for further management.
At presentation to the ICU, she was drowsy, sluggishly responding to verbal commands. Her neck veins were distended. She had respiratory distress, with active accessory muscles of respiration. She had a loud P2, pan systolic murmur. Her abdomen was soft, mildly distended with evidence of free fluid and palpable liver (BP: 70/40 mmHg, PR: 102/min, RR: 30/min, SpO2: 99% on high flow O2 via non-rebreathing mask) Her labs were: Hemoglobin 12.3 g/dl, total leucocyte count 8600/μL, serum sodium 138 mEq/L, serum potassium 6 mEq/L, blood urea nitrogen 63 mg/dl, creatinine 6.0 mg/dl. Arterial blood gas (ABG) revealed hypoxia and hypercarbia with mixed acidosis (pH: 7.189, PaCO2: 60.3 mmHg, pO2: 52.7 mmHg, HCO3: 22.5 mmol/L, BE: 6.54 mmol/L, serum lactate 1.92 mmol/L). D-dimer and fibrin degradation product were high. An echocardiogram revealed markedly dilated right ventricle (RV)/right atrial/inferior vena cava (IVC); moderate tricuspid regurgitation (TR), severe pulmonary arterial hypertension (PAH) with (pulmonary artery systolic pressure [PASP] = 93 mmHg paradoxical septal motion; decreased right ventricular (RV) function and reduced left ventricular (LV) compliance. Work-up for sepsis and acute myocardial ischemia was carried out and was ruled out. Considering her critically ill state, she was not subjected to any radiological investigation to rule out acute pulmonary embolus.
On Day 1 of ICU admission, she was managed with high dose inotropes and vasopressors: Infusion nor-adrenaline (1 mcg/kg/min) and infusion dopamine (20 mcg/kg/min), empiric broad spectrum antibiotics, low molecular weight heparin and sustained low efficiency dialysis. By Day 2, her vasopressor requirement increased and infusion vasopressin (0.04 units/min) was added. In view of her poor sensorium, hemodynamic instability and acidosis she was electively intubated and ventilated. Her pre-intubation ABG was pH: 7.18, PaCO2: 60 mmHg, PO2: 66.6 mmHg, HCO3: 21.9 mmol/L, BE: 7.1 mmol/L while post-intubation ABG was pH: 7.29, PaCO2: 36.7 mmHg, PO2: 80.4 mmHg, HCO3: 17.3 mmol/L, BE: 8.3 mmol/L. On Day 3, echocardiography revealed findings similar to Day 1 echocardiography (PASP 95 mmHg). In view of her refractory pulmonary hypertension iNO was started (Day 3) through nitric oxide blender (NOxBOX, Ben font Scientific Ltd. Kent, England) at 5 ppm and then increased to 10 ppm. Her hemodynamic parameters showed a progressively improving trend after initiation of iNO. By 12 h (ICU Day 4) of iNO, vasopressors were tapered down. PD was restarted on Day 5 with cumulative negative balance of 2 L (approx). Blood gasses on Day 5 revealed pH: 7.45, PaCO2: 28.4 mmHg, PO2: 136.2 mmHg, HCO3: 20 mmol/L, BE: 5.3 mmol/L and lactates 1.61 mmol/L. Her follow-up echocardiography showed a significant reduction in PA pressures with PASP measuring 73 mmHg at 48 h and 63 mmHg at 72 h of iNO initiation []. Gradually, her vasopressor were weaned off completely and NO was withdrawn after 72 h (Day 6). She was extubated the next day and subsequently was maintained on non-invasive ventilation with inspiratory positive airway pressure of 12 mmHg, expiratory positive airway pressure of 4 mmHg. She was shifted out of ICU on Day 10. Throughout the ICU stay the methemoglobin levels were < 1%, as measured by the co-oximetry test.


A 45-year-old healthy Caucasian female patient presented in the emergency department with sudden onset of left breast erythema. On examination, she had an oedematous, tender, erythematous left breast with areas of blistering, epidermolysis and necrosis. Observations demonstrated systemic inflammatory response syndrome with tachycardia, pyrexia and hypotension. Investigations demonstrated raised inflammatory markers, electrolyte abnormalities and severe anaemia. An ultrasound scan revealed the presence of gas and fluid-filled pockets.
The Laboratory Risk Indicator for Necrotising Fasciitis score can be utilized to risk stratify patients presenting with signs of cellulitis to determine the likelihood of necrotizing fasciitis. A score >6 of 13 indicates that necrotizing fasciitis should be seriously considered. In this case, a score of 8 was allocated for serum sodium of 126 mmol/l, haemoglobin of 6.6 g/dl and C-reactive protein of 306.7 mg/l. Her other biochemical markers were normal, including serum creatinine of 68 µmol/l, plasma glucose of 8.8 mmol/l and a leukocyte count of 11.5 × 109/l. A provisional diagnosis of necrotizing fasciitis was made, and the patient was referred to the breast surgeons. She was taken to the theatre immediately, where she underwent a mastectomy.
The histopathology demonstrated that the breast was partially replaced by a partly cystic and partly solid necrotic lesion. The cystic cavity contained blood clots. A microscopic examination showed an atypical undifferentiated spindle cell lesion with a fascicular architecture, pleomorphism and marked mitotic activity with areas of ulceration and necrosis (Figs and ). The initial set of immunostains performed showed that tumour cells were negative for cytokeratins (Fig. ), S100 and LCA. The tumour cells showed diffuse and strong vimentin positivity (Fig. ). Further immunocytochemical labelling showed weak expression of CD99, patchy strong expression of CD10 and patchy weak expression of smooth muscle actin. Cytokeratins (CAM 5.2) and EMA were expressed and there was no tumour-specific expression of CD34, desmin or myogenin. Fluorescent In-situ hybridization analysis failed to demonstrate evidence of a t(x:18) translocation using the LYS-SYT break apart probe. The diagnosis of a Grade 3 undifferentiated spindle cell sarcoma was made and although the tumour was reported to have a clear resection margin (5 mm) in most areas, the presence of necrosis and granulation tissue reaching the deep margin made the status of the margin uncertain.
Staging computed tomography scan demonstrated left axillary lymphadenopathy and a small left-sided basal effusion. Following discussion of the case at the multidisciplinary meeting, radical completion mastectomy was recommended. In addition, she underwent adjuvant radiotherapy. Reconstruction was with a split thickness skin graft by the plastic surgery team prior to her radiotherapy treatment (Fig. ).


A 58-year-old Chinese female was referred to the oculoplastics services of National University Hospital, Singapore, for right upper eyelid ptosis of 1.5 years’ duration and difficulty in closing her right eye. She had a history of bilateral primary angle closure diagnosed in 2003, for which bilateral laser peripheral iridotomies were performed. She was started on topical latanoprost 0.005% once every night to the right eye, as intraocular pressure (IOP) was suboptimal. Subsequently, she underwent an uneventful right cataract extraction with intraocular lens implantation that same year. As IOP remained optimal postoperatively, she was taken off topical latanoprost. Her condition remained stable until 2008 when there were progressive defects in her right visual field with increased IOP. Thus, she was started on topical bimatoprost 0.03% (Lumigan, Allergan, Inc) once every night to her right eye.
On review after 3 months, IOP was found to have been controlled adequately. However, she reported an onset of right upper eyelid drooping 2 months after starting treatment. There was no history of trauma or eyelid surgery. The ptosis did not show any diurnal variability or fatigability, and there was no diplopia. A detailed evaluation by the neuro-ophthalmology team revealed no underlying neurological cause. Four months after starting treatment, the treated eye was found to have long eyelashes and ocular pigmentation. Subsequently, the patient reported worsening of her right ptosis after 12 months on treatment and was keen for referral to the oculoplastics team.
By the time the patient was reviewed by the oculoplastics team in 2010, her right upper eyelid ptosis had persisted for 1.5 years. Measurements of the palpebral aperture (PA) of her right and left eye were 6 mm and 8 mm, respectively. Measurements of marginal reflex distance 1 (MRD1) for her right and left eyes were 0.5 mm and 2 mm, respectively. Levator palpebrae function was 8 mm for the right eye and 14 mm for the left eye. Lid creases measured 7 mm and 5 mm for the right and left eye, respectively.
Eventually, the patient underwent a surgical correction of her ptosis with levator muscle advancement in August 2011. Surgery was uncomplicated and postoperative recovery was uneventful. Seven months after the operation, her PA measured 9 mm and 8 mm while MRD1 measured 4 mm and 3 mm for the right and left eye, respectively.
The pre- and postoperative clinical photos of her eyelids are shown in and , respectively. Preoperatively, she had clinically significant right ptosis obscuring her visual axis, and right lagophthalmos with orbicularis oculi muscle weakness.


A 25-y old male () was referred with dry skin, lentigines, cutaneous warts and dysmorphic features. He was conceived by healthy, non-consanguineous Caucasian parents and born after an uneventful pregnancy. At the age of three, he was diagnosed with strabismus and hypermetropia and since 12 y of age he used hearing aids because of sensorineural hearing loss. Since early childhood the patient suffered from very dry skin and became easily sunburned despite preventive measures although he never developed blisters. From early puberty he gradually developed many freckles, sparse, thin hair, photophobia and growth retardation ().
He had an older brother who died at age 26 due to ruptured appendicitis and salmonella sepsis. The deceased brother had a similar phenotype with short stature, ichthyosis, hypogonadism, epilepsy, mild mental retardation and diabetes mellitus. A second brother and a sister displayed none of these traits and were considered healthy. The patient’s height was 165 cm (healthy siblings had a height between 180 and 200 cm). Medical history, clinical examination and laboratory and imaging test revealed diseases in many organs.
He had dry, parchment-like skin with ichthyosiform scaling mainly on the back and scattered, but pronounced, lentiginous pigmentation (). Viral warts were seen on his hands, knees and feet. He had sparse, brittle and unruly hair and koilonychia with distal nail splitting (). Hair microscopy showed some variation in the calibre of the hair shafts with few trichorrhexis nodosa-like defects. Some hairs had focal ribboning/undulation and irregular contours. No “tiger-tail pattern” was observed using polarizing light microscopy. Cystine content in hair was only slightly decreased to 8.2 mol% (normal values 10.0−10.5 mol%, analysis performed by Dr Josef Föhles, Aachen, who provided reference values). At the age of 28, basal cell carcinoma was diagnosed on his shoulder.
Eye examination revealed photophobia and severely decreased visual acuity (1/60 on the right eye and 12/60 on the left eye) (). He had esotropia but no nystagmus. He had bilateral microphthalmos with an axial length of 18.39 mm on the right eye and 18.53 mm on the left eye, but normal corneal size (12 mm on both eyes). He had hypopigmentation of the iris with transillumination. Corneas were normal with the exception of limbal vascularization. Before cataract surgery he had an excessive hyperopia +13 D on both eyes. He had bilateral cataract with punctate lens opacities. Ophthalmoscopy revealed hypopigmentation of the retina, tortuosity of the vessels and macular lesions with pigment epithelial derangement and atrophy, retinal fibrosis and macular folds on both eyes. Earlier performed visual evoked potential (VEP) was normal and electroretinography did not show any signs of tapetoretinal degeneration.
He had a high-pitched voice, micropenis (2 cm) and cryptorchidism with high levels of plasma luteinizing- and follicle stimulating hormones and very low plasma testosterone. Pubic and axillary hairs were absent. Type 2 diabetes was diagnosed at the age of 26 and required insulin treatment. The pituitary-adrenal axis and thyroid function were normal.
Neurologic examination showed progressive ataxia and a broad-gauged gait. Varying imaging studies showed thickened theca cranii and a dysmorphic sella turcica as the only clear-cut abnormal findings and EEG was normal. Multiple CT scans as well as an MRI of the cerebrum were normal at around age 27.
Between ages 25 to 31, he developed progressive renal disease with an increase in P-creatinine from 114 to 252 µmol/l, persistent albuminuria around 1.0 g/l and intermittent hematuria. Renal biopsy revealed partial atrophy and sclerosis with scattered hyaline tubular casts but immunoflourescent evaluations were all negative. Electron microscopy showed expanded mesangium and unevenly thickened glomerular basement membranes with varying density but without deposits. The renal disease was complicated by nephrogenic anemia, renal osteodystrophy and arterial hypertension. MCV was low, but within normal range and HBa2 was not tested. Due to hypercholesterolemia treatment with Simvastatin was initiated but had to be discontinued due to acute renal failure caused by rhabdomyolysis. Kidney function was restored after three weeks on dialysis.
Mitochondrial function was normal when respiratory enzymes were measured in a liver biopsy. Plasma concentrations of amino acids were normal except for a slight elevation of P-cysteine. A biopsy from striated muscles did not reveal any primary muscular disorder.
Due to recalcitrant viral warts and frequent pneumonias, a lymphocyte-subpopulation evaluation was conducted showing normal fractions and concentrations of T-, B- and NK-cells. CD4+ count was slightly below normal levels and CD4+/CD8+ levels inversed T- and B- memory cell levels were unexpected high, mimicking levels of a much older person. It was concluded that the patient was slightly immunodeficient.


A 67-year-old woman presented to emergency department with complaints of episodes of inability to walk for the past 5 days, happening 4-5 times a day. Each episode lasted for 15-20 minutes and was associated with restlessness and breathlessness. Patient was apparently alright one month before, since then she started feeling generalized weakness on and off. However, for past 5 days symptoms were exaggerated and she started feeling sudden loss of power in both the lower limbs simultaneously and inability to walk. She could walk normally after the episode subsided. This episode was not associated with pain in the limbs. Patient was totally conscious during the entire episode. Her medical history was significant for diabetes and hypertension for the past 5 years. The patient's drug therapy consisted of insulin nova mixtard 30/70 (for the past 10 years), olmesartan 20 mg per day (for past 2 years), perindopril 4 mg per day (for past 16 months), and torsemide 10 mg per day (for past 6 months).
On examination she was found to be alert and fully oriented. Vital signs revealed a regular pulse rate of 93 beats per minute, blood pressure of 130/80 mmHg, temperature of 36.8°C, a respiratory rate of 14/min and oxygen saturation of 100% on room air by pulse oxymetry. Cardiac auscultation revealed normal heart sounds, respiratory examination revealed bilateral vesicular breath sounds with bilateral basal crepitations. Complete neurological examination did not reveal significant finding.
The results of laboratory examination were as follows: 10.6 g%, Total Leukocyte Count: 10,500, Differential Leukocyte Count: N70 L26 M3 E1 B0, ESR: 12 mm/hr, Random blood sugar: 98 mg/dl, Urea: 24 mg/dl, Creatinine: 1.2 mg/dl, Total Cholesterol: 198 mg/dl, Triglyceride: 112 mg/dl, HDL: 38 mg/dl, LDL: 138 mg/dl, Serum sodium: 134 mEq/L, Serum potassium: 8.6 mEq/L, Total calcium: 11 mg/dl, Ionized calcium: 1.30 mEq/L, Serum Magnesium: 2.5 mg/dl, Serum chloride: 104 mmol/L, Serum Bicarbonate: 24 mmol/l. ECG showed normal sinus rhythm, normal axis, and tall T waves. CT scan and EMG were not done.
Diabetic neuropathy, Gullian Barre Syndrome, metabolic cause of periodic paralysis.
The diagnosis of drug-induced hyperkalemia presenting as periodic paralysis was suggested by very high serum potassium concentration during the attack and also persistent hyperkalemia between attacks.
Patient was immediately admitted and the treatment for hyperkalemia was instituted. Drugs causing potassium retention were immediately stopped. Medical measures were started to lower down the level of serum K+ which included K+ bind sachet (calcium polystyrene sulfonate) thrice daily. Lactulose syrup and magnesium sulfate was given to avoid constipation. Her K+ started decreasing progressively and within 24 h K+ got reduced from 8.4 mEq/L to 6.8 mEq/L. In the next 24 h serum K+ further lowered from 6.8 to 5.4 mEq/L.
There was progressive fall of blood pressure during the course of the treatment and patient was overall drowsy and disoriented. Measures were taken to maintain her blood pressure.
Patient responded well to the treatment and was discharged in a stable state with serum K+ level of 5.1 mEq/L, and blood pressure of 120/80 mmHg on 5th day of admission.
The patient has been followed-up on an outpatient basis, her serum potassium has been stable with no further episodes of periodic paralysis.


An 8-year-old male child, attending the Child Guidance Clinic at our institute was diagnosed as a case of ADHD, combined type as per DSM-IV TR by the consultant Psychiatrist. The patient had marked hyperactivity at school, home, and in social settings. The child reportedly also had impulsivity and poor concentration as was apparent from history, observation, and mental status examination. The patient had average Intelligent Quotient, but due to hyperactivity and inattention, he was not performing well in academics. He also had behavioral problems at home.
The patient was prescribed methylphenidate immediate release at the dose of 5 mg per day. Parents reported after a week as was scheduled. They mentioned that during the initial 2 days, the child reported suicidal ideation. In the evening when all family members were sitting and talking, the child said without any context (in vernacular language) on the first day “I wish to commit suicide” and on the second day he said “don't cremate me if I die”. During these two days, he was interacting well, playing adequately and his biological functioning was normal. Also there were no other behavioral problems or any other unusual behavior. No other side effects of methylphenidate were reported by the parents.
Parents were alarmed by child's utterances and stopped methylphenidate after 2 days and thereafter no suicidal ideation was expressed by the child. Following this, atomoxetine was prescribed, no side effects have been observed since then and the patient has been coming to child guidance clinic regularly. The case had no family history of mental illness or suicide.


A 51-year-old female was admitted to the hospital with an abnormal chest radiographic finding on a periodic medical inspection. The patient was a non-smoker, and her past medical history was unremarkable. She did not have any respiratory symptoms, such as cough, hemoptysis, dyspnea, fever, or pneumonia. There were no palpable adenopathies, and cardiopulmonary auscultation and laboratory study results, including an electrocardiogram and blood analysis, were within reference limits. A chest radiograph showed a mass 3.2×2.8 cm in size in the left peripheral lung field. A chest computed tomography (CT) scan revealed a well-defined mass of 3×2.9 cm that bordered the visceral pleura at the lingular segment of the left upper lobe (LUL) (). A percutaneous needle biopsy was performed, and the diagnosis indicated that the mass was a salivary gland tumor. Positron emission tomography (PET)-CT revealed a LUL mass with a maximal standardized uptake value of 3.2 and uptake, which indicated distant metastasis. The patient was treated by a lobectomy of the left upper lung with lymph node dissection via video-assisted thoracic surgery. Grossly, the excised section of the left upper lung showed a well-circumscribed, gray-white to yellow tumor mass, measuring 3.3×2.4×1.9 cm (). A microscopic examination revealed that the cut section of the tumor was composed of two types of cells: tubular and glandular structures filled with eosinophilic material, mixed with solid spindle and polygonal cell areas (H&E, ×200). The inner tubular layer showed epithelial cell characteristics, whereas the outer layer exhibited myoepithelial cell characteristics. A few mitotic figures were also seen (H&E, ×400) (). Immunochemical staining for epithelial membrane antigen was positive in the inner tubular layers and epithelial components (EMA, ×200). Immunostaining for actin was positive in the outer tubular layer and solid areas (Actin, ×200). Immunostaining for S-100 showed a focal positive reaction in the outer tubular layer and solid areas (S-100, ×200) (). The postoperative tumor-node-metastasis (TNM) stage was T2aN0M0, and the pathologic stage was Ib. The patient did not receive any adjuvant treatment and was followed up for 16 months without any local recurrence or distant metastasis.


A 66-year-old male presented to the emergency department after a fall and a mild head trauma. He had no history of loss of consciousness or posttraumatic amnesia. The patient had a history of atrial fibrillation and was on acenocoumarol (Sintrom®). His neurological examination was intact. Initial CT scan of the brain was without any sign of intracranial hemorrhage or cranial fracture (). The laboratory workup revealed an International Normalized Ratio (INR) of 2.5. After an 8-hour observation period, he was discharged home.
Forty-eight hours later the patient was transferred to the emergency room with a decreased level of consciousness and vomiting. On neurological examination he had a score of 9/15 on the Glasgow Coma Scale (E2V2M5) and a dilated left pupil unresponsive to light. A CT scan of the brain revealed a large left acute SDH with midline shift (). The patient underwent a craniotomy with evacuation of a large subdural clot. The point of the haemorrhage was some bridging veins to the transverse sinus, which were promptly coagulated. Postoperatively, the left pupil became small and reactive and a CT scan demonstrated complete removal of SDH. The patient progressively improved and one month after the operation he was discharged for further physiotherapy (). Six months later the patient has a Glasgow Outcome Score of 3.


A 78-year-old Korean male was admitted to our hospital in November for severe hypothermia. He had been diagnosed with hypertension at the age of 65 years, and had been treated with medications. He was found comatose on a mountaineering path 4 hours prior to admission. The temperature on the mountain, where he was lying, was reported to be 14℃. Upon admission, the patient was in deep stupor. His blood pressure, as measured in the supine position, was 80/50 mmHg, heart rate was 85 beats per minute, and respiratory rate was 19 per minute. The body temperature was below 34.0℃ (exceeding the measurement range of 34.0℃ to 44.0℃ of the thermometer, which had an error of measurement of ± 0.2℃). Electrocardiography showed J waves, prolonged QT, and occasional premature ventricular complexes (). Therefore, we estimated that his body temperature was indicative of moderate to severe hypothermia.
Chest radiography appeared normal, and ultrasonography of the kidneys showed normal echogenicity and intact corticomedullary differentiation without hydronephrosis. The patient's kidneys were within the normal range in size (the right kidney measured 9.3 × 5.4 cm, and the left kidney measured 9.9 × 4.6 cm). Renal scan (technetium-99m MAG3) indicated normal excretion and secretion functions. Urinalysis showed no proteinuria, and urine microscopic exam showed 10 to 19 red blood cells per high-power field with no casts. Blood urea nitrogen and serum creatinine concentrations were 25 mg/dL (normal range, 8 to 20) and 2.7 mg/dL (normal range, 0.6 to 1.2), respectively. In addition, fractional excretion of sodium was 4.5% and renal failure index was 2.25. The results of hormonal assays were as follow: plasma cortisol 14.6 µg/dL (normal range, 4.0 to 18.3), thyroid simulating hormone 1.43 µIU/mL (normal range, 0.17 to 4.05), free triiodothyronine 0.49 ng/dL (normal range, 0.78 to 1.82), and free thyroxine 1.25 ng/dL (normal range, 0.93 to 1.20). Anterior pituitary hormone levels were normal.
The results of arterial blood gas analysis were as follows: pH 7.260, pCO2 28.0 mmHg, pO2 151.0 mmHg, and HCO3- 12.6 mmol/L. Other laboratory studies produced the following results: serum calcium 8.8 mg/dL, serum phosphate 8.0 mg/dL, serum sodium 141 mEq/L, serum potassium 3.7 mEq/L, serum magnesium 3.1 mg/dL, hemoglobin A1c 5.4%, lactic acid 11.4 mmol/L, serum myoglobin 1,685.0 ng/mL, serum lactate dehydrogenase 159 IU/L, serum creatine phosphokinase 68 U/L, and serum amylase 582 U/L. Urinary concentrations of sodium, potassium, chloride were 95, 44.1, and 114 mEq/L, respectively. Urine osmolality was 537 mOsm/kg.
Upon hospitalization, the patient was wrapped in a warm blanket. We provided him with a forced-air warming system (Warm Touch, Mallinckrodt Medical Inc., Dublin, Ireland) infused with warmed saline (42℃) by pressure infusion (Ranger, Alrizant Healthcare Inc., Eden Prairie, MN, USA). Five hours of warming resulted in an increase in body temperature to 37.3℃, and the patient regained consciousness. Subsequently, electrocardiography showed a normal sinus rhythm (). After supportive care, the serum creatinine levels decreased gradually from 2.7 to 1.1 mg/dL on the fourth day of the hospital stay. The patient was discharged after 12 days of hospitalization, and the serum creatinine and body temperature were 1.2 mg/dL and 36.5℃ at discharge ().


A 44-year-old woman noted the onset of upper and lower abdominal pain associated with constipation approximately 4 years ago. Her symptoms were worse following meals, especially if they included fried foods, fatty foods, coffee or carbonated beverages. Episodes occurred every 2–3 days with occasional emesis but no history of hematemesis, melena or hematochezia. Her appetite remained good, but she noted a weight loss of 25 lb over the past year. There was no history of alcohol, coffee, aspirin or non-steroidal inflammatory medication abuse. She denied dyspareunia or painful menstrual periods. Her only operations were a cesarean section in 2003 and cholecystectomy in 2004.
On physical examination she appeared to be well-developed, well-nourished and in no acute distress. Her abdomen was non-tender and without palpable masses, organomegaly or distention. Right upper quadrant laparoscopy and suprapubic surgical scars were noted. Rectal examination demonstrated no masses or tenderness, with brown guaiac negative stool present in the rectal ampulla. Papanicolaou smear and gynecological examination performed by her gynecologist 1 month previously were normal. Her diagnostic work-up included normal complete blood count, liver and kidney function tests, thyroid function and C-reactive protein. Upper endoscopy and colonoscopy examinations were normal except for internal hemorrhoids. Abdominal and pelvic sonography were normal except for evidence of a prior cholecystectomy, mild fatty liver and a simple right ovarian cyst. A lactose tolerance test was positive.
On the basis of her symptoms and negative diagnostic work-up, the diagnoses of IBS, gastroesophageal reflux and lactose intolerance were made. Treatment with antacids and an anti-cholinergic did not provide relief. Due to her recurrent symptoms, a Computed tomography enterography examination was performed to evaluate the small intestine. This revealed a partial small bowel obstruction located approximately 5 cm proximal to the ileocecal valve (fig. ). Subsequent surgical resection and histology identified the cause of the partial obstruction to be endometriosis with focal submucosal hemorrhage and serosal scarring (fig. , fig. ). The patient became totally asymptomatic postoperatively.


A 3-year-old boy underwent emergency end cervical esophagostomy, decompressive gastrostomy and feeding jejunostomy following esophageal perforation sustained during esophageal dilatation for corrosive stricture. Three months later, a substernal gastric pull up was performed, the native oesophagus being retained in situ with both ends divided and suture closed. Excision of the diseased native oesophagus was not attempted on account of prior mediastinitis in the setting of corrosive esophageal stricture. One year following the substernal gastric pull up, the boy presented with a 4-weeks history of repeated episodes of fever, tachypnea and an expiratory stridor on physical exercise or crying. An upper gastrointestinal endoscopy and barium swallow did not reveal any anastomotic stricture or delayed gastric emptying which could predispose to recurrent pulmonary aspiration. Subsequent contrast-enhanced computed tomography (CECT) scan of the chest revealed a size 3 × 11 cms. posterior mediastinal cystic structure causing anterior and lateral displacement of the trachea with compression of its lumen [Figures and ]. A diagnosis of mediastinal mucocele of the retained native oesophagus was made. The mucocele was excised by a right posterolateral thoracotomy. Operative findings revealed a thick walled, tense, mucocele containing frankly purulent fluid and an ulcerated mucosa []. There were significant adhesions to the mediastinal structures. The early postoperative issues were related to upper airway edema which gradually resolved. At 15-months post-surgery, the patient is free of dysphagia, regurgitation, or respiratory symptoms with an appropriate weight gain.


A 27 year old male visited the department of Otorhinolaryngology-Head and Neck Surgery, Chung-Ang University hospital, with complaints of painful swelling, erythema, and tenderness on the left retroauricular area. He had a history of incision and drainage twice in the right ear, and once in the left ear due to similar symptoms in the past. On physical examination, there was swelling and tenderness in the left retroauricular area. Further, in the center of the crus of helix, there was a small opening showing pus drainage. There was no swelling or tenderness on the right auricle, but there was a small opening in the center of the crus of helix.
Since there were sinus openings in both crus of helix (), manifestations of retroauricular area swelling, and history of recurrent infection, the patient was prediagnosed as the bilateral variant type of preauricular sinus, called 'postauricular sinus'. Surgery was performed after one week of antibiotics treatment and acute inflammation was relieved. Fistulography was performed in order to identify the location of the sinus and the length of the sinus tract, and there were a 0.5 cm, 1.0 cm sized sinus tract for each right and left side, heading towards the posterior-middle portion of the auricles ().
During the surgery, local anesthesia was performed around the left sinus opening and retroauricular area. Then, gentian violet was injected into the sinus tract for dyeing. Perpendicular-oval shaped incision, including the opening of the sinus, was done and excision was preceded by identifying the dyed sinus. The direction of the sinus tract could be indentified using a lacrimal probe. The sinus was observed to penetrate the cartilage of the crus of helix and directed toward posterior part of the auricle as in the sinus form. Retroauricular incision was performed for complete removal of the sinus, and cartilage of the crus of helix was also removed (). Then, a drain was inserted and primary closure was performed. Same procedure was performed for the right side, but upon the insertion of the probe, the length of the sinus was small, and it was observed that it invaded to invade only a portion of cartilage of the crus of helix. Therefore, only an incision around the sinus opening was used completely to remove the sinus (). The patient was discharged without complications and total stitch off was done 7 days after the surgery. Histopathologic studies diagnosis was confirmed it as preauricular sinus, since the sinus tract lined with chronic inflammatory squamous epithelium (, ), and 12 months after the surgery, the patient is on follow up without complications and signs of recurrence.


A 46 year old male patient experienced vibratory tinnitus on the right side for 10 years. He had pulsatile mass on the right side of his lip and did not undergo any treatment. Since 1 month before diagnosis, the level of tinnitus increased along with the size of the mass. Past medical history shows both lower limbs amputation 20 years ago and hypertension. Upon physical examination, there were no symptoms of tenderness, but 2 pulsatile masses were found on the right upper and right lateral side lip. The size of the former mass was 1×1 cm and the latter was 1.5×1.0 cm (). There were no other special abnormalities in the oral cavity, oropharynx and the other head and neck area. The tinnitus decreased when pressure was applied to the left tympanic membrane area and increased when leaning forward. The tympanic membrane was in sound condition and hearing tests revealed both ears to be normal. Similar observations were made during two times of tinnitogram. The frequency was 2 kHz, and loudness was between 60 and 70 decibels and there were no residual inhibitions. Arteriovenous malformation from the right facial artery was found resulting from computed tomography of the facial bone (). CT with angiography was not conducted due to hypotension and tachycardia after the injection of the contrast media. It was diagnosed as resulting from an abnormality in vessel and excisional biopsy was conducted through oral access after general anesthesia (). Operation revealed the superior labial artery and facial artery after incising the oral mucosa in the mass and the area showing evidence of vascular malformation was ligated. The area was irrigated and operation was concluded. Patient was allowed to return home 3 days after the operation. Pathology diagnosed the condition as atherosclerosis (). The patient did not complain of any tinnitus symptoms after the operation and shows no sign of recurrence up until now, 1 year after the operation.


An 18-year-old boy was referred to us because of widely disseminated erythematous plaque with scaling and lichenification since the age of one year. Growth retardation and mild psychomotor delay were observed during his development. At the six year of age, a history of intermittent epilepsy was recorded. The seizures consisted of loss of consciousness, deviation of eyes and head along with tonic posturing of arm or leg of either side or associated flushing. The seizures usually lasted for 10 minutes. The initial frequency was 5-6 times per year. He had been treated with sodium valproate. Improvement was noted after six years with frequency decreased to once per year. He was born healthy (weight = 3.59 kg, height = 49 cm) and followed the recommended schedule for vaccination. There was no history of asthma, epilepsy, trauma or atopic dermatitis among family members.
Physical examination revealed growth retardation for his age with height 150 cm and weight 40 kg. His facial abnormalities was obvious including a prominent forehead, a broad nasal bridge, deep set eyes, broad outer canthal distance []. Chronic eczematous dermatitis including a diffuse erythematous with scaling and lichenification spread through his face, entire trunk and extremities [Figure , ]. No obvious abscesses were noted on skin but seldom atrophic scars. Hyperextensible joints including scoliosis and talipes cavus [] were also seen. There was no abnormality of the hair or nails. Neurological examination showed limb muscle strength of grade V, normal muscular tension of upper limb, increasing active achilles tendon reflex of lower limb. The findings of the rest of the physical examination were unremarkable.
His laboratory work up included excessively elevated serum level of IgE 20800 IU/ml (normal range 0-100 IU/ml), IgA 441 mg/dl (normal range 69-382 mg/dl) and eosinophils 8.6% with absolute eosinophils
0.8×109/L (normal range). Levels of IgM, IgG, and number of CD4+ and CD8+ T lymphocyte in serum were in normal range. The skin biopsy demonstrated mild epidermal hyperkeratosis with intermittent parakeratosis, exocytosis of neutrophils and intercellular edema. In the dermis, papillary edema, infiltration of lymphocytes and dilated capillaries in superficial dermis were prominent []. Maxillofacial X-ray showed primary dentition of the left maxillary first molar was retained [] and X-ray of feet showed features of talipes cavus. EEG, CT of the brain, and chest X-ray was normal. Intelligence assessment showed decreased calculation ability.
Based on the typical clinical features, excessively increased IgE levels and the histopathology findings, the diagnosis of HIES was confirmed. Moreover, neurological complication was prominent in this case and other related neurological diseases were differentiated. The patient was treated with moisturizer for the rash and oral antihistamine. Improvement was noted at week three post-treatment and the treatment was well tolerated.


A 32-year-old woman was admitted in a wheelchair. She presented with leg weakness and radiating pain on both buttock, posterior thigh & calf for 1 year. Because pain and weakness in both legs was gradually aggravated during 4 months, she could not walk or stand when she was admitted. Prior to admission, she underwent an operation for a suprasellar tumor resection in our hospital when she was 14 years old. At that time, the pathologic diagnosis was pilocytic astrocytoma. After the operation, panhypopituitarism occurred, so steroid hormone replacement therapy was started in 1993. For a period of 19 years, exogenous steroid maintenance had been administrated (median dose of prednisolon 7.5mg). The neurologic examination revealed both legs weakness (motor grade IV/IV) and radiating pain on the L5 and S1 dermatomes. The straight leg raising test was negative, but the bilateral knee jerk and ankle jerk were slightly hyperreflexive. A magnetic resonance imaging (MRI) study showed severe compression of the lumbar spinal cord by epidural fat tissue. At the dorsum of the spinal cord from the L1 to L5 levels, high signal lesions on T1- and T2-weighted images were checked. The longest length from the dorsum of the spinal cord to the ligamentum flavum was 11.4mm on the L3 level and the median length was 9.2mm at the L1-L5 levels. Fat suppression MR imaging showed low signal intensity at the same lesion () as well. In the enhanced T1-weighted MRI, the epidural vessels were more developed than in a normal person's MRI. The engorged epidural vessels were positioned beneath the nerve root exit site, bilaterally ().
Considering the long-term exogenous steroid administration, her neurologic symptoms and MR images, we could make the diagnosis of spinal epidural lipomatosis. Because she complained of radiating pain on the bilateral L5 and S1 dermatomes, she had an operation to decompress the L5 and S1 nerve roots. In the operation field, fat tissue compressed the dorsum of the thecal sac and engorged epidural vessels were found on nerve root exit sites (). We removed the epidural fat tissue and coagulated the engorged epidural vessels for nerve root decompression. The postoperative course was good. The radiating pain in both legs was dramatically relieved and motor power was slightly improved. She was admitted in a wheelchair but discharged walking. After 1 month, we did a follow-up MRI. On the follow-up MRI, the epidural fat tissue did not compress the thecal sac and the courses of nerve roots were not interrupted.


A 43-year-old man was admitted to our institute with a 3-month history of dysphagia and neck pain with swelling. He was paraplegic due to a C6-7 fracture and dislocation and has been operated on 8 years previously. Initial surgical treatment included anterior corpectomy of C7 and anterior iliac crest graft placement using a plate and screws. Hematological studies including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were normal. A simple lateral radiograph and a computed tomography scan showed partial anterior migration of the lower screw. A hydro-soluble contrast swallow image confirmed esophageal perforation (). The protruding screw was observed during emergent esophagoscopy (). Surgery was scheduled for removal of offending screw. The loose screw was removed and esophageal perforation was found during surgery and repaired directly by a cardiovascular team(). The patient was fed using a nasogastric tube for 3 weeks and subsequently oral feeding was gradually resumed. Further progress was favorable, and a contrast study performed at 3 weeks postoperatively showed no evidence of fistula.


A 36-year-old male presented himself with a one-month history of numbness of all his fingertips in his left hand, hypesthesia, posterior neck pain, and left shoulder pain. The neurological examination upon his admission revealed marked restriction in the range of the left forward bending motion of his neck due to an electrical sensation that was running down his back and into his limbs (Lhermitte's sign) and that included a positive Hoffmann's sign.
Cervical plain film radiography and computed tomography (CT) revealed partial circumferential fusion of the anterior and posterior C1 arches with the basilar part of the occipital bone (complete anterior fusion and partial, asymmetrical posterior fusion) and incomplete block vertebrae on C2-3 (C2 vertebral arch and C3 lamina fusion on the left side) (). Cervical magnetic resonance imaging (MRI) revealed high signal intensity in the spinal cord on the T2 weighted images, which indicates spinal distress caused by the encroachment of the left C1 posterior arch and the left C2 vertebral arch on the neural canal (). The patient's symptoms were regar ded as the consequence of the encroachment of the bony element on the neural canal. There was also no occipitocervical instablility. Thus, the patient underwent posterior surgery for partial removal of his C1 left posterior arch and his C2 left vertebral arch to decompress his thecal sac.
A day after the surgery, the numbness of the patient's fingertips, his hypesthesia, and Lhermitte's sign disappeared. The image of the decompression of the thecal sac was confirmed with a post-operative CT scan (). The absence of post-operative instablility was also confirmed.


A 23-year-old female patient, with no known past medical history, was referred to our centre at the 9th week of her first pregnancy because of incoercible vomiting and mild dehydration. She was admitted to the Obstetrics department, where she received symptomatic treatment with antiemetics and prokinetics. She was discharged on the third day with the diagnosis of hyperemesis gravidarum. Nevertheless, 2 weeks later, the patient was readmitted for presenting incoercible vomiting, dizziness, and headaches. On this occasion, vitamin B6 was added to her treatment, and she was discharged on the fifth day.
On the 16th week of gestation, the patient was readmitted because she persisted with the symptoms. At this time, the patient was obtunded and disoriented, and she also complained of an oppressive occipital headache. On physical examination, left VI cranial nerve palsy, papilledema, and right ankle clonus were found. Brain magnetic resonance imaging (MRI) was performed, suspecting a dural sinus thrombosis. However, the study revealed triventricular hydrocephalus with transependymal edema due to a tumor in the posterior fossa [Figures and ].
The patient was assessed by the authors, and she underwent an urgent ventriculoperitoneal shunt with a high pressure valve without any complications. In spite of a favorable course in the immediate postoperatory period, the patient experienced neurological decline with blurry vision, vomiting and headaches 10 days later. These symptoms did not respond to medical treatment with dexamethasone. In view of the latter, an endoscopic third ventriculostomy was performed, and her derivative system was removed. At the same time, we discussed with the Obstetrics department the need to operate on the mass, since the patient showed progressive involvement of the brainstem.
At 22 weeks of gestation, the patient underwent a right sub-occipital craniotomy with partial resection of a highly vascularized mass in the posterior margin of the foramen magnum. Its intraoperative biopsy reported a low-grade stromal tumor, suggestive of hemangioblastoma. The surgery was performed without any obstetric or neurologic complications. In the postoperatory period, the patient only presented mild right hemiparesis, which remitted within a few days. The definitive biopsy showed the presence of a vascular neoplasm with irregular “stag-horn” cells, and positive immunohistochemistry for CD34 and vimentin. All of the latter was compatible with hemangiopericytoma. The patient continued to be followed at the Neurosurgery and Obstetric outpatient clinics after the 26th week of gestation. She underwent a cesarean section at the 36th week because of intrauterine growth restriction, and it was performed without any complications. Currently, both the mother and the baby are in good health.


A 38-year-old, house keeper woman was admitted in Alzahra hospital because of chills, fever, and generalized malaise. She also complained about exertional dyspnea and nonproductive cough of 2 years duration and had a history of Raynaud's phenomenon that started 8 months prior to admission. She was a nonsmoker with no documented lung disease and denied any other symptom. Physical examination revealed Velcro-like rales at the bases of both the lungs, but no sign of skin nail involvement or heart failure. Tuberculosis and other infections were ruled out. Laboratory tests showed a high positive titer of anti-nuclear antibody, erythrocyte sedimentation rate of 73, and C-reactive protein of 3 + and a normocytic normochromic anemia, whereas test for anti-Scl70 antibody and anti-centromere antibody was negative [].
Computed tomography scan showed bilateral ground-glass pattern suggestive of ILD []. Spirometry was done, which showed a moderate restrictive pattern.
She was treated with prednisolone (1 mg/kg) and pulse of cyclophosphamide (1 g/month) for 6 months, and then put on Cellcept for another 6 months, but ILD did not improve. Thus, the patient was treated with rituximab 2 g (1 gram every 14 days) and showed gradual improvement, then she was subsequently treated with 100 mg of azathioprine daily, prednisolone 5 mg bid, and calcium plus vitamin-D. She has been followed up for 2 years and has not shown any other manifestation.


A 12-year-old boy presented with a new onset generalized tonic-clonic seizure. He is the first child of a phenotypically normal mother. The patient was born at term after an uneventful pregnancy by an uncomplicated caesarean section with low birth weight of 2,900g (10–25th percentile). At 8 months the child underwent surgical repair of a cleft palate and at age 2 years had two episodes of febrile convulsion. He had a learning disability in his school-aged years. On family history, his father had a prominent forehead, small down-turned mouth, micrognathia, and nasal voice (). He had not undergone any prior specific evaluation, but seemed to have normal intelligence without any neuropsychiatric symptoms including a seizure history.
Physical examination revealed prominent forehead, small down-turned mouth, micrognathia (), and repaired cleft palate with not well formed uvula (). His height was 146 cm (25–50th percentile) and weight was 38.5 kg (25–50th percentile). Chvostek’s and Trousseau’s signs were negative. He had mild mental retardation with an intelligence quotient (IQ) of 68 on the Korean version of Wechsler Intelligence Scale for Children (K-WISC).
The electrocardiogram (ECG) was abnormal due to a prolonged corrected QT interval and the chest radiograph failed to show a thymus shadowing. Computed tomography (CT) of the heart revealed right aortic arch (), and CT of the brain showed multiple calcifications in the bilateral basal ganglia and both frontal white matters (). The electroencephalogram (EEG) revealed generalized intermittent slow waves without any epileptiform discharges.
Laboratory tests showed hypocalcemia (calcium 6.5 mg/dL, ionized calcium 2.8 mg/dL), hyperphosphatemia (9.1 mg/dL) and normal level of magnesium (1.8 mg/dL). Parathyroid hormone (PTH) was decreased to 4.76 pg/mL (reference range 15–65 pg/mL) and 25-vitamin D3 was decreased to 13.6 ng/mL (reference range 30–60 ng/mL). Peripheral blood count, hepatic, renal and thyroid function tests were all normal except thrombocytopenia (144,000/μL). Immunological studies showed normal levels of Immunoglobulins but T cell subpopulation analysis was abnormal. T lymphocyte was decreased to 42.8 %/μL (reference range 52–78%/μL), CD4/CD8 T cell ratio was decreased to 0.79 (reference range 0.8–3.0).
Fluorescent in situ hybridization (FISH) analysis was performed using peripheral blood and chromosomal study was carried out using DiGeorge/VCFS TUPLE1 region probe (22q11.2) with an ARSA control probe (22q13) which confirmed a 22q11.2 deletion. His father revealed the same chromosomal abnormality, which suggests paternal inheritance in this case.
The patient was treated with calcium citrate and calcitriol. He remained asymptomatic with normalization of his serum calcium level with medications.


A 12-year-old boy presented with a new onset generalized tonic-clonic seizure. He is the second child of phenotypically normal parents, born at term after an uneventful pregnancy by an uncomplicated caesarean section with low birth weight of 2,800 g (10–25th percentile). At age 1 year, the child underwent surgical repair of patent ductus arteriosus. At age 6 and 7 years, he had two episodes of febrile convulsion. He had a learning difficulty in his school-aged years. He did not have any family history of similar clinical conditions.
Physical examination was abnormal due to a prominent forehead, small down-turned mouth, micrognathia and bifida uvula. His height was 155.8 cm (90–97th percentile) and weight was 59.7 kg (75–90th percentile). Chvostek’s and Trousseau’s signs were negative. On neurological evaluation, his verbal fluency was decreased.
The ECG showed a prolonged corrected QT interval and chest X-ray failed to show a thymus shadowing. The brain CT revealed calcification located in the left basal ganglia (). The EEG was abnormal due to generalized intermittent slow waves without any epileptiform discharges.
Laboratory tests showed hypocalcemia (calcium 6.9 mg/dL, ionized calcium 3.8 mg/dL), hyperphosphatemia (8.3 mg/dL) and normal level of magnesium (1.7 mg/dL). PTH was normal with 21.91 pg/mL (reference range 15–65 pg/mL) and 25-vitamin D3 was decreased to 22.9 ng/mL (reference range 30–60 ng/mL). Peripheral blood count, hepatic and renal function tests were all within normal range except mild thrombocytopenia (130,000/μL). A 22q11.2 deletion was confirmed by a FISH analysis.
The patient was treated with calcium citrate and calcitriol. He remained asymptomatic with normal serum calcium level with medications.


A 20-year-old man visited our sleep center because of snoring and sleep apnoea; the symptoms had started two years prior. He worked for the military, and his apnea and snoring were bothering colleagues in the barracks. His daily life was normal, and he had neither a family history nor a medical history of seizures and had previously been healthy. His Epworth Sleepiness Scale (ESS) score was 14 out of 24, which suggested moderate excessive daytime sleepiness. He especially complained of severe sleepiness in the morning. No parasomnia events or periodic limb movements during sleep had been reported. No tongue biting was reported, but he reported recent occasional enuresis. Physical examination revealed no apparent abnormalities. His body mass index (BMI) was 23.1 kg/m2.
Overnight polysomnography was performed. Sleep efficiency was 81.9%, wakefulness after sleep onset (WASO) time was 59.2 minutes (17.8%), and his arousal index was 28.7/h. Stage 1 and 2 sleep were increased; however, stage 3 and REM sleep were decreased. He experienced nine apneas and two hypopneas during PSG, each episode lasted 20–40 seconds. His apnea/hypopnea index (AHI) was 2.7/h. These apneic episodes consisted of respiratory cessation accompanied by chest and abdominal movements of the obstructive type. All hypopnea was typical hypopneas. Seven out of nine apneic episodes were accompanied by rhythmic paroxysmal discharges in the bifrontal areas on EEG; clinically, five of the episodes progressed to tonic movement of all four limbs, and two episodes showed apneas only. All that seven episodes occurred during NREM sleep (two in stage 1, four in stage 2, and the others in stage 3). The other apnea and hypopnea did not accompany tonic movement.
The next night, a 16-channel video-EEG monitoring was performed to classify these events and to determine the temporal relationship of apnea onset and Ictal discharge. Ten apneic events with ictal discharges preceding the apnoea were recorded throughout the night. Ictal EEG showed paroxysmal rhythmic discharges in the range of 9 to 10Hz in the bifrontal area starting just before onset of the apneic episodes. The interictal EEG was normal, and brain MRI showed no specific abnormality. Ictal SPECT revealed increased cerebral blood perfusion in the right frontal region (). Given these findings, we concluded that these events were epileptic seizures presenting as obstructive sleep apnoea. Carbamazepine therapy was initiated, and the nocturnal episodes were decreased.


A 36-year-old man, who had splenectomy history due to trauma when he was 10 years old, visited the emergency room due to abdominal pain and vomiting on November 15th, 2010. He developed septic shock, so norepinephrine was applied for 5 days and peripheral ischemia of four extremities occurred. The patient underwent right knee disarticulation, left trans-femoral amputation and right elbow disarticulation on December 21th, 2010 (). He underwent skin flap operation of the right knee and left hand skin defect area on January 10th and 24th, 2011, and joint range of motion exercise and isometric exercise were performed. After the operation wound healing, he was admitted to the Severance Rehabilitation Hospital for prostheses measurement and rehabilitation on March 5th, 2011.
Considering the patient's young age, we set the final goals as gait, independency of ADL and going back to work. During the initial stage of the rehabilitation program, we focused on upper extremity function improvement and independency improvement on wheelchair level activity. After this short-term goal had been reached, gait training and car training were planned. Finally, before discharge, we planned to do computer training since he used computer a lot for his marketing business.
Before admittance to our hospital, the patient had a psychiatric consultation due to depression. There was no objective data for the depression score, but he showed clinically meaningful level of depression, so he took antidepressant medication. After symptoms improved, medication was stopped, and he no longer took the pills after being admitted to our hospital. Since his limb was amputated when he was on shock status, he finally recognized amputation after recovering from the shock. This made him feel negative body image of himself, and thus he went through anorexia and sociophobia. But, after admission to our hospital, he accepted his situation and got over with negative body image and wanted active rehabilitation. We helped him get actively involved in the rehabilitation program by inspiring a sense of accomplishment from stepwise functional recovery. Sometimes he felt the depression, but he did not want to take the medication. Continuous support from his family and inducing motivation made him feel better, so he could actively participate in the rehabilitation program. The patient's motivation was increased particularly by setting short-term goals that considered the patient's condition and by sharing the rehabilitation program with the patient. When he was admitted, the stump sites were relatively fine: right elbow disarticulation site was club shape and stump length from acromion was 32 cm; right knee disarticulation site was cylindrical shape and stump length from great trochanter was 44.6 cm; and left trans-femoral amputation site was conical shape and stump length from great trochanter was 33.3 cm. Skin condition and soft tissue shrinkage of all three amputation sites were relatively fine with no bony spurs or neuroma. There had been phantom pain and phantom sensation on stumps, but they decreased during gait training with the prostheses. Also, his left hand was 2nd, 3rd, 4th, and 5th distal interphalangeal joint disarticulation status, skin flap site was fragile, and there were blisters due to friction during the rehabilitation program. This condition of the sound limb made the rehabilitation program more difficult for the patient. At first, passive range of motion of the left wrist joint flexion was 40° and extension was 30°. In addition, 1st web space length was 2 cm, but we could achieve 4 cm of 1st web space after left hand stretching exercise (). Due to the contracture and weakness of the left hand, he could not do opposition before intensive training, however, he was finally able to do tip pinch using thumb and 2nd finger when he picked up something like a tissue. Manual muscle power test (MMT) of upper extremities on admission showed grade 4 on both shoulder joints in terms of flexion, extension, abduction and adduction, grade 3 on the left elbow and wrist joint in terms of flexion and extension, and grade 2 on the left hand in terms of flexion and extension. MMT of lower extremities on admission showed grade 3 on both hip joints in terms of flexion, extension, external rotation and internal rotation. After strengthening exercise, the left hand muscle power improved to grade 3, and the hip joint muscle power improved to grade 4 together with strengthening exercise and Cybex (Cybex 770+TMC) isokinetic training. Since he had stayed in the intensive care unit (ICU) for a long time, deconditioning and impaired pulmonary function also made his rehabilitation program more difficult. Vital capacity (VC) on admission was 3,480 mL (75.9% of predictive value) and peak cough flow (PCF) on admission was 450 mL. We guided him to buy an Ambu bag and trained him to do air stacking exercise, and finally, VC/PCF reached to 5,300 (115%)/650.
During the 2nd week of the program, he was fitted with the right elbow disarticulation prosthesis. Elbow disarticulation socket, elbow flexion device control unit, elbow lock control cable, outside locking hinge, constant friction wrist unit, and figure of 8 harness were used. Artificial hand was used for cosmetic reasons during work, and bimanual activity training was performed. Even though he was originally right handed, we planned to make sound left hand as the dominant hand at first. His left hand function test was impossible due to the contracture and weakness on admission, but after training, pinch power showed 1.8 kg and Box and Block Test showed 33 points. However, there still remained some limitations to using the left hand as the dominant hand. First, the motion of the left wrist was limited as flexion 50° extension 50°, and skin condition was still thin and fragile. Second, due to remaining contracture, it seemed hard to bear his weight with the left hand, even though the left hand function was recovered. So, we changed our plan and decided his right hand as the dominant hand and trained each hand the same proportionally. Before intensive gait training, we measured wheelchair (MIKI U2; MIKI Korea, Daegu, Korea), did ADL training with prosthesis on wheelchair level, and made him improve independency and use walking aid more efficiently after. Sitting balance was good on admission but ADL training had not been done; so Functional Independence Measure (FIM) score of self care subunit was 6 points. So intensive ADL training was done and he finally could don upper prosthesis by himself using pull over sweater method. But, since dressing, eating and grooming still needed minimal assistance due to the impaired hand fine motor function, ADL training was done consistently until discharge. On occupational therapy, ADL training, such as spoon use, drinking with a cup, and buttoning and unbuttoning, was done and as a result, follow-up FIM score improved to 12 after 1 month and 25 on discharge. He was able to do upper dressing by himself, although it took 2 minutes and 30 seconds. We decided on the dominant leg as the right leg because of the longer stump length on the right side. We also decided on the height of 162 cm, which is shorter than his original height of 167 cm, to improve stability by lowering the center of gravity. The patient was fitted with right knee disarticulation prosthesis with end bearing socket, polycentric knee, endoskeletal shank and dynamic solid ankle cushion heel (SACH) foot on the 6th week of the program. In addition, he was fitted with left trans-femoral amputation prosthesis with quadrilateral socket, polycentric knee, endoskeletal shank and dynamic SACH foot on the 8th week of the program. Parallel bar weight shift training was started on the 9th week of the program. On the 10th week of the program, he started gait training with anterior walker without wheels, and he finally could walk 100 m using anterior walker without pause (). After starting intensive gait training, we analyzed the gait pattern and found that the left leg was dragged on swing phase. We shortened the left leg by a quarter inch and it improved the gait pattern. During rehabilitation program, doctor, physical therapist, occupational therapist, and prosthetist regularly met twice a week and discussed the prostheses fitting, hand function recovery, and gait pattern. This multidisciplinary team approach made the patient more motivated and rehabilitation program more efficient.
Cane gait seemed to be difficult for him due to the left hand contracture and weakness. We decided to gait with a walker indoors and use an electronic wheelchair outdoors. Family education, such as stump site management, was done and occupational rehabilitation program, such as ADL training and computer training, was done for going back to work. We rented a car for disabled people and trained him to move to the driver's seat and drive short distance with electronic wheelchair. And we also gave him information about repair costs of a car for the disabled. He could use a computer mouse by himself, but since the typing speed was too slow, a universal cuff was used for faster speed. On discharge, ADL independency was increased up to 90 point of FIM score and 56 point of Modified Barthel Index score, which were 48 point and 20 point on admission, respectively ().
Functional level status also improved. He was at absolute bed rest status on admission, but at the time of discharge, he could come to sit by himself and gait with anterior walker. After discharge, we follow up on him constantly. He is successfully goes back to work using an electronic wheelchair and performs almost all of ADL by himself without help on wheelchair level.


A 35-year-old healthy man visited Gangnam Severance Hospital with hyperkeratotic papules on his anterior neck. These papules first appeared 2 years ago and slowly increased in number. Over time, the skin lesions had spread peripherally with some central clearing. The patient stated that the skin lesions had developed after a skin injury. Previous treatments with topical antifungal and topical steroid were ineffective. The patient's medical and family history was also negative for EPS or any other connective tissue diseases. On examination, multiple crusted erythematous papules (2 to 5 mm in size) were arranged in an annular and serpiginous pattern (). A potassium hydroxide preparation obtained from the skin lesion was negative for fungal elements. A punch biopsy specimen revealed focal epidermal hyperplasia with the formation of a narrow vertical transepidermal channel containing nuclear debris and eosinophilic degenerated elastic fibers (). The amount and thickness of the elastic fibers in the papillary dermis had increased markedly. It looked like entering the canals toward the outside of the skin (). The papillary dermis and superficial reticular dermis were infiltrated by numerous inflammatory cells, including lymphocytes and histiocytes (). Verhoeff-van Gieson staining showed a markedly increased number of altered elastic fibers forming dense clumps in the upper dermis (). Gomori methenamine silver stain and D-PAS stain were both negative for fungal elements. A diagnosis of EPS was made based on these clinical and histopathological findings. Despite treatment with topical 0.05% tretinoin nightly for 6 months, no improvement was observed.


During routine dissection in subhepatic region of abdomen of a well embalmed 70-year-old male cadaver in the Department of Anatomy, M. L. N. Medical College, Allahabad, India, on 15 May 2012, following variations in the branching pattern of CT and SMA were encountered.
The CT was seen arising from left lateral aspect of the abdominal aorta at the level between T12-L1 vertebrae instead of its usual ventral origin. After a short course of 7 mm the CT was observed to give rise an additional branch i.e., gastroduodenal artery (GDA) (diameter, 5 mm) in addition to its usual three branches viz. LGA (diameter, 4 mm), SA (diameter, 8 mm), and CHA (diameter, 7 mm) (). SA followed an unusual straight course towards left and was not tortuous as it should be. CHA gave off right gastric artery (RGA) after a course of 12 mm from its origin and continued as left hepatic artery (LHA). LHA ascended towards the liver in the right free margin of lesser omentum, anterior to portal vein and left to the common bile duct; and gave off an unusually long cystic artery (CA) (diameter, 4 mm) before entering into liver parenchyma at the porta hepatis. SMA arose from the ventral surface of abdominal aorta at the level of L1 vertebra, 22 mm distal to the origin of CT; and descended behind the neck of pancreas, where it gave off a "replaced" right hepatic artery (RHA) (diameter, 6 mm) for the supply of right lobe of liver. No right sided hepatic arterial system was identified from the CHA. This replaced RHA exhibited a long and tortuous course towards the liver and was crossed in front by CA before its entrance into the porta hepatis. The CA was running laterally after its origin from LHA, in front of replaced RHA and gave off 2-3 small anastomotic branches running down towards hepatic flexor of colon, in addition to its usual superficial and deep branches to the gallbladder (, ).
No other anomalous blood vessel was identified. Diameter of all arteries was measured with the help of sliding vernier caliper and scale.


A 35-year-old woman presented with a pain in the right iliac fossa of one month duration with a sudden increase in the severity of the pain. On examination, a tender mass was palpable in the right iliac fossa. Ultrasound and CT scan of the abdomen revealed a ileocolic intussusception with homogenous enhancing mass lesion approximately 5.6 × 5.3 × 3.5 cms seen at the lead point. The ileocecal junction, cecum and ascending colon pulled up by intussusceptum. Multiple mesenteric nodes were seen. The differential diagnosis offered were adenoma/lymphoma. A right hemicolectomy was done with an uneventful postoperative course.
On gross examination, a fleshy circumscribed polypoid mass was seen at the caecum measuring 5.5 × 4.5 × 3.5 cm, with the cut surface showing areas of hemorrhage [].
Microscopy of the lesion with adjacent intestinal mucosa revealed necrosis of the mucosa. The lamina propria was infiltrated by a monotonous population of lymphoid cells that showed destruction of the glands and were seen extending into the muscularis propria and the serosa. The cells were small with irregular nuclear membrane, having hyperchromatic nucleus and scant cytoplasm. The tumor cells were characteristically arranged around the epithelium (lymphoepithelial lesion) []. Seventeen lymph nodes isolated showed reactive hyperplasia. A histological diagnosis of MALT lymphoma was offered. Immunohistochemistry was done which showed strong positivity of the tumor cells for CD-20 [] and negative for CD 10, thus confirming the diagnosis. The patient was referred to oncology for chemotherapy.


A 52-year-old male attended FNAC clinic of our hospital with a globular swelling in the upper lip []. The swelling was present for last 5 years and gradually increasing in size. It was not associated with pain. On physical examination, the size of the swelling was approximately 2.5 cm × 1 cm, cystic, non-tender and soft in consistency. No associated cervical lymphadenopathy was detected.
With a clinical diagnosis of mucocele, fine needle aspiration was performed using a 22 gauge needle. Aspiration yielded pultaceous material and the smears were stained with May-Grünwald Giemsa stain. Cytological smears showed many anucleated squames and few benign mature squamous cells in a dirty background []. A cytological diagnosis of epidermoid cyst was made with a recommendation for excision of the swelling and histopathological examination.
Excision biopsy and histopathological examination of the resected specimen showed a cyst lined by stratified squamous epithelium filled with lamellated keratin []. No skin appendages seen. Thus, hispathological diagnosis of epidermoid cyst was confirmed.


The patient was a 22-year-old man who had no history of psychiatric illness. He was admitted to our hospital due to major depression that was diagnosed according to the Diagnostic and Statistical Manual for Mental Disorders, Fourth Edition, with moderate sadness, agitation, retardation, and difficulty in concentrating. The clinical course after admission is summarized in . We treated the patient with paroxetine and lorazepam for about 4 weeks, but treatment was not successful. On day 4, his Montgomery Åsberg Depression Rating Scale (MADRS) score was 44, and his plasma levels of HVA and MHPG were 4.6 ng/mL and 1.9 ng/mL, respectively. shows the waveform of [oxyHb] during the cognitive activation of the word fluency task. NIRS signal changes were measured during a 10 second pretask baseline period, a 60 second task period, and a 55 second posttask baseline period. The initial syllables assigned were changed every 20 seconds (/a/, /ka/, and /sa/, respectively) during the 60 second task period. During the task period, the patient was instructed to generate as many Japanese words beginning with the designated syllable as possible. In the pretask and the posttask baseline periods, the patient was instructed to repeat a train of syllables (/a/, /i/, /u/, /e/, and /o/). He sat on a chair in a room with daylight with his eyes open throughout the measurements. We focused on increases in [oxyHb], because this appears to reflect task-related cortical activation more directly than decreases in [deoxyHb]. We defined the patterns of NIRS waveforms using the grand average waveforms in the frontal region (CH 25–28, CH 36–38, and CH 46–49; ) and two simple visual indices, integral value, and centroid value. The integral value describes the size of the hemodynamic response during the 60 second activation task period, whereas the centroid value serves as an index of time course changes throughout the task, with periods representing the timing of the hemodynamic response. A recent study reported that the optimal threshold of the centroid value of the frontal region between major depressive disorder and two other disorders (schizophrenia and bipolar disorder) is 54 seconds (major depressive disorder < other 2 disorders). On day 4, the centroid value of the grand average in the central region was 68.6 seconds (), and the NIRS waveforms showed an [oxyHb] reincrease in the posttask period (CH 34, 35, 36, 39, 45, 46, 47, and 49; ), which is characteristic of schizophrenia.,,– On day 25, his MADRS score was 40, his plasma HVA level was markedly higher at 49.3 ng/mL, and his plasma MHPG level was 1.6 ng/mL. On day 27, he was voluntarily discharged from the hospital, but was still in a depressive state. On day 30, 3 days after leaving the hospital, he became manic and was readmitted to our hospital. He was in a state of psychotic mania with elevated mood, grandiosity, aggression, auditory hallucination, and thought broadcast, with a Young Mania Rating Scale (YMRS) score of 48. Paroxetine and lorazepam were discontinued. We subsequently treated him with lithium, risperidone, and zotepine for approximately 3 weeks, and his manic state improved. On day 46, his YMRS score was 29, and plasma levels of HVA and MHPG were 17 ng/mL and 1.3 ng/mL, respectively. However, he refused drugs because of extrapyramidal symptoms and became manic with psychotic symptoms again. Therefore, we tried a combination of lithium, olanzapine, and zotepine, and the treatment was successful. On day 77, the NIRS waveforms turned to a negative pattern (), which was defined by an integral value of the grand average in the central region <0, whereas there were [oxyHb] reincreases in the posttask period (CH 33, 41, 42, 43, 44, 51, and 52). On day 99, his YMRS score decreased to 3, and his plasma levels of HVA and MHPG were 8.7 ng/mL and 1.9 ng/mL, respectively. He was discharged from the hospital on day 106. Nine months later, he was off medication, became manic again, and was admitted to another psychiatric hospital.


A 60-year-old female patient was admitted with altered sensorium and fever for 2 weeks. The patient was drowsy with severe neck stiffness. She was a known case of type II diabetes mellitus and systemic hypertension.
Routine blood examination revealed polymorphonuclear leucocytosis (TC 12400, DC P97, L02, M01) and normal erythrocyte sedimentation rate (ESR). Lumbar puncture was performed, cerebrospinal fluid (CSF) study showed lymphocytic pleocytosis with elevated protein and normal glucose. Computed tomography (CT) brain showed small ring enhancing lesions in bilateral frontal lobes and features suggestive of meningoencephalitis. Magnetic resonance imaging (MRI) brain [] showed multiple well-defined enhancing lesions in both cerebral hemispheres and left cerebellum with pial enhancement. Treatment was started presuming bacterial/tuberculous meningitis with a broad spectrum antibiotic and anti tuberculous therapy. CSF culture was negative for any organisms. She was discharged after 3 weeks with the diagnosis of chronic meningitis with cerebral granuloma, type II diabetes mellitus and systemic hypertension.
One month later, she came with hypoglycemia, hypotension and fever. She was diagnosed with urinary tract infection with extended-spectrum beta-lactamase Klebsiella and was appropriately treated. Repeat MRI brain was done which showed no new lesions; anti TB treatment was continued.
She was readmitted after 5 months with vomiting, poor intake, fatigue and generalized body ache. She had developed right parieto-occipital infarct, so low- molecular- weight heparin and antiplatelets were started. MRI brain now showed persistence of lesions with only mild resolution of edema surrounding the lesions. She showed mild symptomatic improvement. Hence, she was further evaluated with tumor markers and CT thorax and abdomen. This showed a collapse at D8-D9 vertebral level. MRI spine with contrast showed spondylodiscitis at the D8-D9 level [Figure and ]. Patient underwent laminectomy, debridement of discovertebral infection and fusion. The lesion was approached through the posterior midline. Pedicle screws were applied at D6, D7 and D10, D11 levels. D8, D9 laminectomy was done as an approach to the infected site and D8/9 disc space was curetted []. Pus and granulation tissue were sent for histopathology and microbiological studies. The space was packed with grafts taken from the transverse process and stabilized with rods. Histopathology examination revealed chronic nonspecific granulomatous inflammation. Microbiology tests showed fungal hyphae on culture and the fungus was identified as F. oxysporum.
She was diagnosed as having meningospondylodiscitis due to F. oxysporum and was started on intravenous voriconazole 200 mg 12 hourly for 3 weeks, then changed to oral voriconazole 200 mg twice daily for a period of 7 weeks. In the meantime, tuberculosis (TB) polymerase chain reaction from the spinal tissue was found to be negative. Hence, ATT was stopped. At the time of discharge, 2 months later, she was asymptomatic and ambulant with the support of a brace. She was followed up regularly in the outpatient department with X rays and laboratory tests (ESR 13, TLC 9000), which showed reduction in infection and a progressive spine fusion [] X ray shows bony trabeculae crossing the fusion site and clinically there is no tenderness at the site. At her last followup, 36 months after the surgery, she was doing well, living an independent life [].


A 41-year-old man visited our clinic with swelling and weakness of both lower extremities of 1-month duration. Recently, he had begun to have pain in both thighs and difficulty in lifting his legs. He had no history of recent trauma, administration of drugs, infections, physical exercise, endocrinopathies, or other factors that could cause rhabdomyolysis. On physical examination, there was pitting edema of the lower extremities without cutaneous eruption. shows the laboratory data. He recently noticed that his urine was tea-colored. The urine dipstick showed a positive test for blood in the absence of red cells in the sediment. The spot urine protein-to-creatinine ratio was 1,714 mg/g. His serum myoglobin was 0.405 mg/dL and urine myoglobin was undetectable. Aggressive volume replacement was started for the treatment of rhabdomyolysis.
A 24-hour urine collection showed protein excretion of 3,140 mg/day and albumin excretion of 122.5 mg/day. Albuminuria was 3.9% of total proteinuria. The electrophoretic analysis of the serum and urine proteins is shown in . The serum electrophoresis pattern showed decreased albumin and increased α1-fraction, β-fraction, and γ-globulins, suggesting polyclonal gammopathy (). The urine electrophoresis showed increased β-fraction, which accounted for 53.3% of the urinary proteins (). Immunofixation of serum and urine was performed to identify monoclonal immunoglobulins and/or free light chains, and gave negative results. Despite fluid replacement, the patient’s creatine phosphokinase (CPK) level increased to 21,450 IU/L and his leg weakness did not improve. Nerve conduction studies were normal but the electromyography showed short-duration, low-amplitude, and polyphasic patterns in all of the left upper and lower extremity muscles, suggesting inflammatory myopathy. The test for anti-Jo-1 antibody was positive, with a titer more than 8.0 EU. Biopsy of the left vastus lateralis muscle demonstrated endomysial chronic inflammation and muscle fiber necrosis (), and immunohistochemical stain showed infiltration by CD8+ T cells (). Polymyositis was diagnosed by the criteria of Bohan and Peter, as he had symmetric proximal muscle weakness, histologic evidence of myositis, elevated serum muscle enzymes, and characteristic myopathic changes on electromyography, without skin changes. The patient was started on prednisone, 1 mg/kg daily, which resulted in gradual improvement of his leg pain, weakness, and swelling. After 1 month, his CPK level decreased to 461 IU/L and the spot urine protein-to-creatinine ratio decreased to 24.1 mg/g.


A 20-year-old primigravid, Caucasian woman was referred to our Fetal Medicine Unit at 11 weeks’ gestation for first trimester aneuploidy screening. Maternal blood sampling for β-HCG and PAPP-A measurement was performed on the first appointment at 11 weeks.
There was no relevant personal or family medical history or exposure to any known teratogen. She was under no medication, except folate supplementation. The couple was nonconsanguineous.
Abdominal ultrasound performed at 13 weeks of amenorrhoea revealed an intrauterine gestational sac containing a live fetus with a crown-rump length of 53 mm. A detailed sonographic examination detected caudal dysplasia with hypoplastic lower limbs () as well as an intra-abdominal cystic formation (), which was thought to correspond to the gastric bubble. The differential diagnosis of caudal regression and VACTERL association was considered.
The risk for aneuploidies, based on ultrasound and biochemical markers, was low (Trisomy 21 – 1:21163, Trisomy 13/18 – 1:37147).
Regardless the uncertainty of the definitive diagnosis, the poor prognosis was discussed and the couple opted for medical termination of pregnancy, which was performed using a combined regimen of oral Mifepristone and vaginal Misoprostol. The procedure had no reported complications. A vaginal ultrasound was performed after fetal expulsion and confirmed uterine vacuity.
The fetal patho-histological study confirmed the sonographic findings and revealed additional multiple malformations: low-set ears, hypoplastic unilobated lungs, absent spleen, hypertrophic pyloric stenosis with marked stomach distension (), horseshoe dysplastic and cystic kidney with a single ureter, rudimentary bladder, bilateral intraabdominal testes, urethral and anal atresia, distended bowel, recto-perineal fistula and ambiguous genitalia. Craniosynostosis, hydrocephalus and coloboma were not observed in fetal autopsy.
Asymmetric lower limbs were also noticed, with absent foot and rudimentary leg on the left and syndactyly (lobster claw malformation) of the right foot ( and ).
Placental study revealed nonspecific changes with increased fibrin deposits and lateral insertion of the umbilical cord, which had three vessels. Placental weight and maturity were considered appropriate for the gestational age (). No other alterations were found in the umbilical cord or placenta.
Fetal karyotype was normal (46 XY).
Fetal x-ray revealed absent sacral and lower lumbar vertebrae, absent lower limb bones on the left and hypoplastic right femur and tibia as well as absent right fibula. Absent pelvic bones on the left and hypoplastic on the right were also reported ().


A 39-year-old woman presented to our hospital complaining of frequency, urgency, and sensation of incomplete bladder emptying. Urinalysis revealed no microscopic hematuria or pyuria, and her urine culture remained sterile. An uroflowmetry was performed, and the free maximum flow rate (Qmax) was low at 14 mL/sec, with voided volume at 218 mL, and postvoid residual urine volume (PVR) at 25 mL. She was administered an alpha blocker for two weeks, but there was no symptom improvement. A follow-up uroflowmetry showed an even lower Qmax at 8 mL/sec, with voided volume at 206 mL, and PVR at 45 mL. To rule out any anatomical obstructing lesions, a physical examination was performed, and multiple small papillary masses were noted around the external urethral meatus ().
The rapid plasma reagin card test and Treponema pallidum hemagglutination test results were negative. Cystourethroscopy demonstrated nonspecific findings in the urethra and bladder. An urodynamic study revealed a detrusor pressure at maximum flow rate (PdetQmax) at 25 cm H2O with Qmax at 14 mL/sec, indicating BOO. The masses were surgically excised, and primary repair was performed. Histopathological examination indicated condyloma acuminata with papillomatosis, acanthosis, parakeratosis, and hyperkeratosis ().
Excision of the masses resulted in near complete resolution of her symptoms. No obvious recurrence of condyloma acuminata has been observed for 6 months after the surgery. One month after the surgical excision, a follow-up uroflowmetry showed an improved Qmax, voided volume, and PVR at 17 mL/sec, 229 mL, and 10 mL, respectively.