Medical therapy has limited value in managing symptoms of progressive familial intrahepatic cholestasis (PFIC). Liver transplantation (LT) is the only definite therapy for progressive liver failure and intractable pruritis. In recent years, biliary diversion (BD) has also shown therapeutic promise. This study was designed to review the experience of management and outcome of seven PFIC patients. Two children each had type II and III and three had type I/II PFIC, respectively. Medical treatment was successful in only one. Decompensated cirrhosis had already set in four children. They underwent a living related LT. There was one post transplant mortality. Remaining all children had a normal graft function at a mean follow-up of 50 months. One patient of PFIC type I/II received internal and another of PFIC type II received external BD. Both patients were asymptomatic at follow-up of 19 and 23 months respectively. Nontransplant surgical options should be offered to noncirrhotic children with PFIC.

This case-series analyzed the outcome of live donor liver transplantation (LT) performed in children <7.5 kg from January 2008 to June 2009 at our center. Five patients (3 males, 2 females, mean age, 8.2 ± .4 months; mean weight 6.8 ± 0.4 kg) underwent LT. The indications of LT included biliary atresia (3) and idiopathic neonatal hepatitis (2). Postoperative complications included acute rejection (1), portal venous thrombosis (1), bile leak (1), severe hypertension (1) and bacterial sepsis (4). There were no donor related complications. The median follow-up duration is 11 months with patient and graft survival rates of 100% each, respectively.

Osteogenesis imperfecta (OI) often leads to severe lower limb (LL) deformities due to recurrent fractures that significantly hamper ambulation. We describe our management experience of correction of LL deformities in four children with OI. Medical management consisted of peri and postoperative pamidronate therapy, calcium supplementation and rehabilitative care. Deformities were corrected with multiple osteotomies and intramedullary fixation by titanium elastic nails. At a mean follow-up of 30 months, all children have significantly reduced fracture incidence and have no evidence of recurrence of deformities with improved ambulatory status. We emphasize the importance of combined medical and surgical therapy for these patients.

We report and discuss a unique case of hemophagocytosis associated with hepatitis A and E coinfection in a young child which has never been reported earlier in children. Its varied presentation is emphasized and possible management options and outcome are discussed.

A 4-year-old boy presented with high grade fever, headache and vomiting for 20 days’ duration. The patient had been treated elsewhere with multiple intravenous antibiotics for 2 weeks. There was no history of contact with tuberculosis (TB). The systemic examination was normal apart from papilloedema. Cerebrospinal fluid showed 440/mm3 cells (60% polymorphs), glucose 9 mg/dl, protein 368 mg/dl and polymerase chain reaction PCR) for TB was negative. A computed tomography scan of the head was normal. The patient was commenced on intravenous antibiotics and showed clinical improvement. However, repeat lumbar puncture after 7 days showed persistent hypoglycorrhachia (glucose 10 …

To the Editors: A 13-year-old previously well Nepali girl from an average socioeconomic background presented with nonpulsatile intermittent severe headache and nonprojectile vomiting for 15 days. She had 1 episode of left focal seizure 1 week before presentation. There was no history of contact with tuberculosis. No meningeal signs or focal neurodeficits were present. The fundus and rest of the systemic examination were normal. Magnetic resonance imaging revealed multiple small (<10 mm) ring-enhancing lesions in the cerebral and cerebellar hemispheres, basal ganglia, thalami, and brainstem with perilesional edema giving a starry-sky appearance (Fig. 1). Routine biochemical investigations, skeletal survey, and chest radiograph were normal. Neurocysticercosis serology, quantiferon, and Mantoux tests were negative. No fever was documented during the hospital stay. She was treated with intravenous steroids, phenytoin, mannitol, and acetazolamide for a presumptive diagnosis of neurocysticercosis. Due to brainstem involvement, cysticidal therapy was not administered. Her headache continued to worsen, hence methylprednisolone therapy was instituted. Lumbar puncture showed cloudy cerebrospinal fluid (CSF) with 460 cells (85% lymphocytes), glucose 2 mg/dL, protein 500 mg/dL, lactate dehydrogenase 888 U/L, and adenosine-deaminase 17.94 U/L. Ehrlich-Ziehl-Neelsen staining of the CSF was positive for acid-fast bacilli (AFB). CSF polymerase chain reaction was also positive for AFB. Bactec culture showed growth of AFB susceptible to isoniazid, rifamipicin, pyrazinamide, and ethambutol. Retroviral serology was also negative. Following the onset of 4 drug anti-tubercular therapy with steroids whereafter headache and fever disappeared.FIGURE 1.: Axial, saggital, and coronal magnetic resonance images of the brain depicting multiple ring-enhancing lesions with perilesional edema.The starry-sky appearance on neuroimaging has been reported in neurocysticercosis,1–3 we emphasize that it can be observed in childhood tubercular meningitis. Routine biochemical and radiologic investigations may not distinguish the 2 entities, and CSF studies may expedite the microbiologic diagnosis and appropriate treatment in such cases. Satvinder Kaur, MD Ketan Kulkarni, MD Vineet Gupta, MD, MRCPH Apollo Centre of Advanced Pediatrics Indraprastha Apollo Hospital New Delhi, India

In this letter the authors describe an acute lymphoblastic leukemia survivor with pontomedulary hemorrhage due to basilar artery malformation. Pathogenesis and management are discussed.</.

A 4½-month-old previously well male child presented with fever, rapid breathing for 5 days, and abdominal distension for the preceding 3 months. He was born to a non-consanguineous marriage and had been fed with diluted cow’s milk since the age of 2 months. On examination, the child had tachypnoea, intercostal retractions, crackles in the chest, pallor, frontoparietal bossing, and hepatosplenomegaly. Anthropometric parameters were below the 3rd centile of the WHO National Center for Health Statistics (NCHS) reference standards (weight 4 kg, length 50 cm, head circumference 39.4 cm). Fundus and the rest of …

A 6-month-old male infant was referred to our institute for evaluation of abnormal eye movements and delayed development. The infant had no breathing abnormality in the neonatal period. He was born after a full-term uncomplicated pregnancy and was the first birth of a non-consanguineous marriage. Neurological examination revealed microcephaly (occipitofrontal circumference 39 cm), pendular nystagmus, tremulous movements of hands on attempt to approach objects, hypotonia and motor mental developmental delay. Fundus and the rest of the systemic examination was normal. MRI of the brain revealed a deep and wide interpeduncular cistern with dysplastic and thick superior cerebellar peduncles giving the ‘molar tooth’ appearance in the axial images (figure 1A). The …

Organ transplantation is the only curative option available for many diseases resulting in irreversible organ-failure. Advanced surgical-techniques, perioperative care and immunosuppressive therapy have tremendously improved survival rates in patients undergoing transplantation. However, the primary impediment in the progress of transplantation in our country is the lack of donor organs. Ever since the Transplantation of Human Organs Act was passed in India in 1994, making it possible to retrieve organs from brain-dead donors, there have been about 1000 adult cadaver donations, but only 6 (3 boys and 3 girls) pediatric cadaver donations. Their age range was 16 months to 16 years. Four of them had sustained brain death (BD) from head trauma and the others from brain tumor and ventriculitis.

Four case records of patients with Seckel Syndrome (SS) were retrieved. Typical of bird headed dwarfism was seen in all. Chromosome 18 deletion was seen in one child with SS. MRI abnormalities were detected in 3 patients. Cytogenetic studies and neuroimaging is likely to provide important diagnostic and prognostic information.

Epidermolysis bullosa (EB) is a rare blistering disease that may manifest in the neonatal period. Diagnosis is based on clinical symptomatology, histopathology, electron microscopy and genetic studies.1 However, in a resource limited setting, the diagnosis is mainly clinical. Age of onset, symptomatology and prognosis of the various subtypes are varied.2 We report a case of neonatal EB presenting at 6 days of life. This boy …

Acrodermatitis Enteropathica (AE) is an important nutritional disorder of children affecting both innate and cell mediated immunity. It predisposes to secondary bacterial and candida superinfections. We describe an infant with typical features of AE who had candida infection with a fulminant course. Need of early recognition and prompt initiation of therapy for fungal infection in AE is emphasized.

Background: A combination of albendazole and praziquantel was more effective than albendazole alone in destroying Taenia cysts in an animal model. There are no such studies in humans. Objective: To evaluate the efficacy and safety of a combination of albendazole and praziquantel in children with seizures and single small enhancing computerized tomographic lesions. Study Type: Prospective, interventional, randomized, placebo-controlled, double blind clinical trial at a tertiary hospital in North India. Subjects: One hundred twelve children with seizures for <3 months and single lesion neurocysticercosis; 9 lost to follow-up. Intervention: All children received albendazole (15 mg/kg/d) for 7 days with either praziquantel or placebo (75 mg/kg/d) for 1 day according to random allocation. Repeat CT scans were done after 1, 3, and 6 months. All children were followed up for at least 6 months. Results: Fifty-three children received praziquantel (group A) and 50 placebo (group B). Complete resolution of lesions was seen in 60% and 72% of children at 3 and 6 months in group A versus 42% and 52% of children in group B. Nonresolution and calcification were higher in group B than in group A at 3 months (B: 28%, 14%; A: 12%, 8%) and 6 months (B: 16%, 22%; A: 6%, 9%), but the differences were not statistically significant. Seizure control and side effects were similar in the 2 groups. Conclusions: A combination therapy for albendazole and praziquantel was statistically comparable to sole therapy with albendazole in eradicating lesions and preventing seizures.

Sheldon Hall syndrome (SHS) is a rare distal arthrogryposis syndrome with predominantly autosomal dominant mode of inheritance. Recently mutations in MYH3, TNNI2, or TNNT3 have been found in some of the cases. In the present report, we describe recurrence of SHS in a family suggestive of an autosomal recessive mode of inheritance. The index case had camptodactyly, ulnar deviation of hands, kyphoscoliosis and bilateral rocker bottom feet. In the next pregnancy, the abnormal features were detected prenatally on ultrasonography and the pregnancy was terminated around 16 weeks of gestation. This represents the first report of prenatal diagnosis of severe SHS by level 2 ultrasound.SHS is a type of distal arthrogryposis (DA) syndrome characterized by multiple congenital contractures of the limbs and craniofacial anomalies. We report the prenatal diagnosis of SHS at 16 weeks of gestation in a family with a prior affected sibling.