Devdeep Mukherjee

Sturge-Weber syndrome type III.

A 3-y-old girl was admitted in authors’ hospital with a history of afebrile right sided complex partial seizures since last 2 y. The seizures lasted for a few minutes and used to occur 3–4 times every week. She was also complaining of headache since the last 1 y. Her birth and developmental history was normal with no similar history of seizure disorders in the family. On examination she had a preferential use of her left hand over the last 2 mo. There was no evidence of any neurocutaneous markers (Fig. 1). On admission, her blood counts, C-reactive protein, random blood glucose and electrolytes were normal. On prior admission, she had already been started on oral Phenytoin. Yet, her seizures had not subsided. Electroencephalogram showed epileptiform paroxysmal burst of discharges with hypsarrhythmia with significant cortical dysfunction, predominantly involving left hemisphere. Computed Tomography (CT) scan of brain showed gyral thickening, gyriform enhancement and focal calcification at left fronto parietal region with diffuse edema and mass effect. Magnetic Resonance Imaging (MRI) of the brain revealed left frontal, parietal and occipital angiomatosis with calcifications consistent with Sturge-Weber syndrome (Fig. 2). She had not developed any glaucoma. As the patient only had exclusive leptomeningeal angioma without any port wine stain or ocular involvement, a diagnosis of type III Sturge-Weber syndrome was made. She was discharged with sodium valproate and is in regular follow-up with frequent monitoring of intra ocular pressure. Sturge-Weber syndrome (SWS) is characterized by leptomeningeal angiomatosis, involving the occipital and posterior parietal lobes. Facial cutaneous vascular malformations, seizures, and glaucoma are among the most common symptoms and signs [1–3]. Sturge-Weber syndrome is subdivided into type I (facial and leptomeningeal angioma, possible glaucoma), type II (facial angioma, without evident endocranial involvement), and type III (exclusive leptomeningeal angioma). Thus far very few cases of Sturge-Weber syndrome type III have been reported [4]. The index patient had exclusive leptomeningeal angioma with calcifications but without ocular involvement or port wine stain. So, the diagnosis of type III Sturge-Weber syndrome was possible only by radiological investigations [5]. The diagnosis of type III Sturge-Weber syndrome is extremely rare and should be thought of in a patient presenting with refractory epilepsy without any neurocutaneous stigmata and evidence of calcifications on MRI.

Purpura fulminans due to acquired protein C deficiency

Purpura fulminans (PF) may be the presenting symptom in a patient with protein C (PC) deficiency. It is a hematological emergency and presents with extensive areas of hemorrhagic necrosis of the skin. PC deficiency is usually genetically inherited. However, we report a 1 year and 4 months boy, who presented with acquired PC deficiency possibly of postinfectious etiology and developed PF.

Mechano‐electrochemical approach for 304 SS interface covered with polymeric coating materials reinforced with exotic rare earth oxides

304 SS substrates have been covered with polymeric class low melting barriers, like polyurethane, acrylate and epoxy with and without incorporation of eco‐friendly (non‐toxic) ceramic particular of antifouling origin. The results of corrosion resistance tests are encouraging. Other physical parameters like hardness, adhesion, scratch resistance are also studied, for these synergistically organized low melting point barrier layers.

Shadow over abdomen

Male neonate was born by normal vaginal delivery at 38 weeks. He was antenatally diagnosed to have dextrocardia, congenitally corrected transposition of great arteries, moderate ventricular septal defect and pulmonary atresia. He was born in good condition and cried at birth. However, he was noted to have saturation of 65%–70% in air and started on continuous positive airway pressure and transferred to neonatal intensive care unit for further monitoring. Postnatal echocardiography confirmed the diagnosis, and he was started on prostaglandin E1 (PGE1) at 5 nanogram/kg/min. On day 3 of life, he underwent a cardiac gated CT angiography (CTA) for further understanding of anatomy and confirmation of diagnosis. In view of need for PGE1 until transfer to tertiary cardiac surgical centre, a …

Dravet syndrome with SCN1B gene mutation: A rare entity

Early infantile epileptic encephalopathy has a grave outcome. Dravet syndrome (DS), characterized by early onset, refractory seizures, and intellectual deficit is one of the variants of the condition. SCN1B gene mutation is one of the lesser known variants of DS. Increased awareness of genetic analysis has increased the early diagnosis of DS for an early prognostication as well as genetic counselling of parents. We present the case of a 7-month old male child who started having recurrent febrile, and thereafter, afebrile seizures, following administration of a vaccination at 3 months. He developed global developmental delay, and is presently on multiple anticonvulsants. Genetic analysis was suggestive of SCN1B gene mutation associated with DS.

Ascariasis masquerading as obstructive jaundice in an infant – a case report

Ascariasis is endemic in India and is common in areas of poor sanitation. The most common complications are intestinal and biliary ascariasis, which are associated with significant morbidity. We report a 7-month-old child who presented with obstructive jaundice and was also documented to have pancreatitis. She was noted to have a round worm occluding the common bile duct following ultrasonography and magnetic resonance cholangio-pancreatography (MRCP). The baby was conservatively managed with oral anthelmintics (to which she responded) and followed up with serial ultrasound.

Yield of imaging performed as per Indian Society of Pediatric Nephrology guidelines in children with urinary tract infection

ObjectivesTo assess yield of imaging performed as per Indian Society of Pediatric Nephrology (ISPN) urinary tract infection (UTI) guideline.MethodsUltrasonography (USG), voiding cystourethrography (VCUG) and dimercaptosuccinic-acid (DMSA) scintigraphy were performed in 183 children (age 0–5y) with first episode (age 0–1y) of UTI or recurrent (age <5y) UTI, as per ISPN recommendations.ResultsSignificant abnormalities were detected in 110 (63%), with vesicoureteric reflux (VUR) grades 3–5 in 31% and renal scars in 43%. Combined USG and DMSA had a negative predictive value of 94% for significant VUR.ConclusionISPN guideline resulted in a high yield of detection of significant abnormalities.

Brucella causing liver abscess in a child with selective IgA deficiency

BackgroundBrucella has been known to cause pyrexia of unknown origin.Case Characteristics9-year-old boy with fever and abdominal pain; multiple abscesses within the liver on ultrasonography.ObservationsIgM Antibodies against Brucella were raised in his serum sample, and Brucella serum agglutination test was positive. Immunological work-up suggested selective IgA deficiency. Reduction in size following treatment with trimethoprim-sulphamethoxazole, amikacin and doxycycline.MessageBrucellosis should be considered as an etiology of liver abscess in patients not responding to conventional antibiotics.

Bullous henoch–Schonlein purpura with involvement of face

Henoch–Schonlein purpura (HSP) with facial involvement with bullous rashes are extremely rare. A 12-year-old boy presented with abdominal pain and features of arthritis. He also had multiple purpuric rashes over his lower limbs. Gradually, he developed bullous rashes which were seen on his legs and hands and progressed to involve the face. He was confirmed to be suffering from HSP from clinical presentation and skin biopsy. The child responded well to oral steroids. Bullous lesions may be seen in HSP. However, there is neither prognostic significance of this nor does it alter the management. Other causes of bullous lesions should be ruled out. As facial involvement is associated with renal and gastrointestinal involvement, these children should be monitored for sequelae.

Cytomegalovirus in biliary atresia: coincidental or causal?

Introduction Neonatal cholestasis (NC) has been documented in 19–33% of neonates with chronic liver disease attending tertiary care hospitals in India1-3. Of these, almost one third have been attributed to biliary atresia3. Cytomegalovirus (CMV) is known to cause intrahepatic bile duct paucity and destruction and has been suggested to cause extra hepatic biliary atresia (EHBA) in a few case series4. We present a series of 4 cases admitted to our hospital over the last 18 months having EHBA with CMV infection.