Umar Amin Qureshi

Parry–Romberg syndrome associated with unusual intracranial vascular malformations and Phthisis bulbi

Neurovascular anomalies of Parry-Romberg syndrome have been reported infrequently. We report a case of Parry-Romberg syndrome with hypoplastic left internal carotid, middle cerebral, anterior cerebral, posterior communicating and posterior cerebral artery. The patient presented with partial seizures, hemiparesis and phthisis bulbi.

Neonatal adrenal hemorrhage presenting as late onset neonatal jaundice

Clinical manifestations of adrenal hemorrhage vary depending on the degree and rate of hemorrhage, as well as the amount of adrenal cortex compromised by hemorrhage. We report here a case of neonatal adrenal hemorrhage that presented with late onset neonatal jaundice. The cause of adrenal hemorrhage was birth asphyxia.

Sagittal sinus thrombosis due to L-asparaginase.

Cerebral Sinovenous Thrombosis (CSVT) is a serious complication of L-asparaginase chemotherapy for leukemia in children. Clinical features of headache, altered consciousness, focal neurological deficit, and seizures developing during or immediately after treatment with L-asparaginase should alert the treating physician to the possibility of CSVT. Immediate imaging of the brain should be done using CT and MRI and the veins should be visualized noninvasively by CT and MR venography. We report two children on induction therapy for acute leukemia who presented with seizures, headache, and altered consciousness. Venous infarcts with and without hemorrhage were seen on CT in one patient and the empty delta sign was seen after contrast injection; however, the early changes were missed by CT. MRI detected dural sinus thrombosis relatively earlier in another patient, while the CT findings were equivocal; in this patient, contrast-enhanced MRI showed the empty delta sign and MR venography confirmed absent flow in the superior sagittal sinus, which was diagnostic of sinus thrombosis. Rapid anticoagulation was started with heparin and maintained with warfarin. The child with a unilateral small nonhemorrhagic infarct made a complete recovery while the other, with bilateral hemorrhagic infarcts, did not survive. We stress the importance of early diagnosis of CSVT using CT and MRI in children with leukemia being treated with L-asparaginase; this will permit timely treatment.

Infantile Wernicke's encephalopathy

Three exclusively breastfed male infants (Case 1, 3 months; Case 2, 7 months; and Case 3, 6 months of age) presented to our emergency department with vomiting, bilateral non-fatiguable ptosis and altered sensorium in form of lethargy, excessive crying and moaning (figures 1 and 2). Ophthalmic examination in addition revealed abduction deficits. There was no nystagmus. The rest of CNS examination was unremarkable. Maternal dietary history was notable for a diet consisting of polished rice as a …

Klebsiella brain abscess in a neonate

Klebsiella pneumoniae is rarely associated with neonatal cerebral abscess. A case of Klebsiella brain abscess in a neonate is described. Diagnosis of abscess was confirmed by magnetic resonance imaging and ultrasound-guided aspiration.

Homozygous Familial Hypercholesterolemia

We report a rare case of homozygous familial hypercholesterolemia (HoFH), a 22-year-old Malay woman who presented initially with minor soft tissue injury due to a cycling accident. She was then incidentally found to have severe xanthelasma and hypercholesterolemia (serum TC 15.3 mmol/L and LDL-C 13.9 mmol/L). She was referred to the Specialized Lipid Clinic and was diagnosed with familial hypercholesterolemia (FH) based on the Simon Broome (SB) diagnostic criteria. There was a family history of premature coronary heart disease (CHD) in that three siblings had sudden cardiac death, and of consanguineous marriage in that her parents are cousins. DNA screening of LDLR and APOB genes was done by Polymerase Chain Reaction (PCR), followed by Denaturing High Performance Liquid Chromatography (DHPLC). Homozygous mutation C255S in Exon 5 of her LDLR gene was found. There was no mutation was found in Exon 26 and Exon 29 of the APOB gene. This report is to emphasize the importance of identifying patients with FH and cascade screening through established diagnostic criteria and genetic studies in order to ensure early detection and early treatment intervention to minimize the risk of developing CHD and related complications.

Subcutaneous emphysema due to bronchial foreign body demonstrated by multidetector-row computed tomography

Foreign body aspiration is an important cause of emergency hospital admissions in young children less than 3 years of age. It may manifest with acute respiratory difficulty, choking and wheeze acutely or may be asymptomatic. Surgical emphysema is an unusual presentation of bronchial foreign body aspiration in young children. We describe an infant with bronchial foreign body aspiration that manifested with subcutaneous emphysema and pneumomediastinum. Multidetector-row CT with virtual bronchoscopy helped in the diagnosis by detecting and localizing the intraluminal foreign body in the right main bronchus that was removed with rigid bronchoscopy.

Perinephric Fluid Collections Due to Renal Lymphangiectasia

Fluid collections around the kidneys on cross-sectional imaging may be caused by urine, blood, pus, lymph, or plasma. Ultrasonography (US), computed tomography (CT), and magnetic resonance imaging (MRI) can not only show and characterize the fluid, but also may help determine the underlying cause of the perinephric fluid collection, such as ureteric obstruction, kidney injury, infection, or renal lymphangiectasia. Renal lymphangiectasia is characterized by abnormal and ectatic lymphatic vessels within and around the kidneys. Dilated lymphatics may result in peripelvic cysts (intrarenal lymphangiectasia) and perinephric fluid collections (extrarenal lymphangiectasia), which can be visualized using US, CT, and MRI. Proper diagnosis on imaging helps in planning a conservative management approach to this benign condition, which requires intervention for only significant symptoms or complications. We describe a 60-year-old man with normal kidney function and bilateral perinephric fluid collections in whom renal lymphangiectasia was diagnosed noninvasively on the basis of characteristic findings on US, CT, and MRI.

Microbiological Diagnosis of Pulmonary Tuberculosis in Children: Comparative Study of Induced Sputum and Gastric Lavage

Even under ideal circumstances, isolation rates of Mycobacterium Tuberculosis (M.Tb) from gastric lavage range from 28% to 40% in children with suspected pulmonary tuberculosis, although rates can rise to 75% in infants [1]. One year prospective study was undertaken in SMGS Hospital, Jammu to compare Induced Sputum (IS) with Gastric lavage (GL) for yield of M.Tb in children with suspected pulmonary tuberculosis. Children aged 6 months to 18 years admitted for chronic cough (more than 28 days) who could not expectorate and had one of the following: household contact (within past 2 years); failure to gain or loss of weight (in 3 months); Positive mantoux test (>10 mm); Chest radiography with pleural effusion, lymphadenopathy or nonresolving consolidation, were included in the study. Sixty-five children were initially included. Sixty children in whom successful sputum induction (SI) was possible took part in the study. They underwent GL and SI on three consecutive days according to a standard protocol [2]. Children underwent morning GL after an overnight fast of at least 4 h. Gastric aspirate was immediately placed in a tube containing sodium carbonate. SI was undertaken after 2–3 h fast about 6 h after GL. Sputum was obtained by suctioning through nasopharynx after chest percussion. Samples were subjected to decontamination (Petroff’s method) and centrifugation. Treated specimens were inoculated simultaneously on Lowenstein Jenson (LJ) medium and in Middlebrook 7 H9 media (MB7H9). Mycobacterial presence was confirmed by Acid Fast Bacilli (AFB) on direct smears or culture media. Classification as M.Tb was made by typicality of colony morphology and a positive niacin test. The median age of children was 4 years. Samples from IS to GL were positive in 8 (13%) and 5 (8%) children, respectively. The difference between yields for M.Tb from AFB smears to cultures on IS and GL was statistically insignificant (p=0.99) using the χ test. Zar HJ, et al. noted that SI was more sensitive than GL, detecting almost twice the number of children with pulmonary tuberculosis [3]. U. A. Qureshi (*) Department of Neonatology and Pediatrics, SKIMS, Post Box no 1402, GPO Srinagar, Kashmir, India e-mail: dromarqureshi@rediffmail.com

Shoshin beriberi-thiamine responsive pulmonary hypertension in exclusively breastfed infants: A study from northern India

Objective To study the effect of thiamine administration on the resolution of pulmonary hypertension in exclusively breastfed infants. Design Prospective cohort study. Setting Hospital based study of a tertiary care hospital. Patients A total of 29 infants with 17 males (58.6%) and 12 females (41.4%) were included in the study. Intervention In addition to the management of shock, right heart failure and renal failure, patients received intravenous thiamine 100 mg/kg IV followed by 10 mg/day till introduction of supplementary feeds. Main outcomes measures Resolution of shock, metabolic complications and pulmonary hypertension. Results Mean age at presentation was 78.45 ± 30.7 days. All infants were exclusively breastfed. 86.2% of mothers were on customary dietary restrictions. Biventricular failure and tachycardia was commonly present. There were four deaths in our series. Acute metabolic acidosis was a universal feature with a mean pH of 7.21 ± 0.15. Pulmonary hypertension was present in all patients on admission. Intravenous thiamine 100 mg/kg IV stat was given immediately after documenting pulmonary hypertension. Repeat echocardiography showed complete resolution of pulmonary hypertension. Conclusion Many infants present to us with Shoshin beriberi with unusually high pulmonary pressures. These patients respond to thiamine challenge with prompt resolution of metabolic complications and reversal of pulmonary hypertension. We believe this is first of its kind from the region, which is reported.