Chronic Liver Diseases in Children: Clinical Profile and Histology.

AIM: The main aim of the study is to study the clinical profile of disorders of the liver and hepatobiliary system in paediatric patients and to correlate the histopathology findings of liver biopsy in chronic liver disease. Another aim being to assess the prognosis and to know the outcome and the effects of treatment in chronic liver diseases in paediatric age group. MATERIALS AND METHODS: It was a prospective study, included the clinical profile of Chronic Liver Diseases (CLD) in children and the histopathological correlation. A total of 55 children were thoroughly investigated by doing relevant investigations and liver biopsy. RESULTS: A male predominance (60%) was noted with maximum incidence in the age group of 6-12 years. The incidence of CLD was 1.1% of total admissions. The most common presenting complaint was jaundice and abdominal distension. Hepatic encephalopathy was noted in 29% patients. Hepatomegaly was seen in 63% patients and spleenomegaly was seen in 60% patients. The incidence of cirrhosis on liver biopsy was 42% (23cases) in CLD patients. The most common diagnosis on histopathology was Wilson's disease (22%), followed by hepatitis and autoimmune hepatitis. The predominant spectrum of CLD was metabolic liver disease and also the predominant cause of death. CONCLUSION: As the incidence of CLD is quite low, a very high index of suspicion is required for its diagnosis. Some uncommon causes of CLD in children were seen in our study like neutral lipid storage disease, α1-Antitrypsin deficiency disease, lupus hepatitis, Alagille syndrome and Budd-Chiari syndrome. A patient of CLD with jaundice and hepatomegaly should be treated aggressively as those are the poor prognostic indicators of the disease. Hepatic encephalopathy and cirrhosis are also associated with poor outcome in patients with CLD. Liver biopsy histopathology by an expert and its correlation with laboratory investigations plays an important role in the diagnosis of CLD. The major cause of deaths in patients with CLD is due to end stage liver disease and fulminant hepatic failure and the only way to prevent and treat these patients is by liver transplantation.

Neurocysticercosis-induced hemiballismus in a child.

Neurocysticercosis lesions can occur in the basal ganglia, but most of these are clinically silent. Neurocysticercosis manifesting as movement disorders is extremely uncommon. The authors report a case of neurocysticercosis in an 11-year-old girl presenting with right hemiballismus (a clinical manifestation not yet reported). Magnetic resonance imaging of the brain confirmed the solitary neurocysticercosis lesion in the left thalamus. The child was symptomatic for 5 years and improved dramatically within 2 days of starting definitive therapy for neurocysticercosis (albendazole and prednisolone).

Acute myelogenous leukemia in a child with HIV infection.

The occurrence of acute myelogenous leukemia (AML) in HIV-infected patients is extremely rare with only adult patients reported so far. Our patient was a 7-year-old male who presented with fever and cough since 1 month with six episodes of intermittent hemoptysis. The child also had recurrent parotid swellings, melena, and purulent otitis media. Investigations revealed anemia (hemoglobin of 8.9 g/dl), thrombocytopenia (platelet count of 21,000 cells per microliter), and positive HIV antibody (perinatal transmission). The patient's bone marrow aspiration and biopsy suggested AML, and the leukemia panel 1 study showed CD13, CD33, CD34, and HLA DR-positive AML with CD7 expression. The child was given supportive treatment but succumbed to the disease. AML can occur in pediatric patients with HIV infection. A high index of suspicion of hematological malignancies should be kept in mind for patients presenting with cytopenias. This is the first HIV-infected pediatric patient (<12 years) with AML reported in the medical literature.

Co-occurrence of intracerebral tuberculoma with lumbar intramedullary tuberculoma.

Tuberculosis is common in India, but the co-occurrence of intracranial and intramedullary tuberculomas as a manifestation of central nervous system tuberculosis is extremely rare in children. We report a case of concurrent intracranial and lumbar intramedullary tuberculomas in a 6-year-old girl. The child developed the intracranial and intramedullary tuberculomas while on antituberculous therapy for previously diagnosed tuberculous meningitis. The child improved well on antituberculous drugs and neurosurgical excision of the lumbar lesion. Histopathology confirmed tuberculous etiology of the intramedullary lesion.

Familial hypertriglyceridemia.

Familial hypertriglyceridemia (FHTG) is an uncommon primary (genetic) dyslipidemia. FHTG is characterized by moderately elevated serum triglycerides, usually in the absence of significant hypercholesterolemia and rarely manifests in childhood. We report an eight-month-old boy incidentally diagnosed as a case of FHTG due to lipemic serum (patient was admitted for malaria with anemia). He had elevated serum triglycerides with normal serum cholesterol, but had no symptoms related to the primary disorder (FHTG).

Neonatal presentation of a rare metabolic liver disease.

Tyrosinemia is a rare paediatric metabolic liver disorder. A 15-days-old neonate born of a third degree consanguineous marriage presented with jaundice due to tyrosinemia, which progressed to fatal hepatic encephalopathy. The diagnosis was based on very high alpha-fetoprotein level, with urine aminoacidogram revealing tyrosine spot and liver biopsy depicting cirrhosis. Very early neonatal presentation and rapid progression were the unusual features of this case.