Etiology, clinical spectrum and outcome of metabolic liver diseases in children

To determine the etiology, clinical spectrum and outcome of metabolic liver diseases [MLD] in children admitted in a tertiary care hospital of Eastern India. An observational study. Paediatric Liver Clinic and Paediatrics Inpatient Department of Nilratan Sircar Medical College and Hospital, Kolkata, Eastern India, from April 2009 to March 2011. All children aged 0 - 12 years having characteristic clinical features along with diagnostic hallmark of any MLDs were included in this study and data were collected on a pre-designed proforma. After appropriate management and discharge, all patients were followed-up for next 6 months. Fifty one children with mean age 4.34 +/- 3.78 years [range 2 days - 12 years], male: female ratio 1.55:1, were studied. The etiologies were Wilson's disease [33.33%, n = 17]; glycogen storage disorder [23.53%, n = 12]; galactosemia [19.61%, n = 10]; non-alcoholic fatty liver disease [11.76%, n = 6]; Gaucher disease [5.88%, n = 3]; mucopolysaccharidoses [3.92%, n = 2] and familial hyperlipoproteinemia type-I [1.96%, n = 1]. Jaundice [n = 24] and hepatomegaly [n = 47], was the commonest symptom and sign respectively. Of the 17 non-responders, most were Wilson's disease [n = 7] cases. There was statistical difference in outcome with respect to INR > 1.3 at diagnosis [p = 0.026]. High index of suspicion, early detection and screening, simple dietary modification and cost effective drugs along with good compliance are sufficient to treat and even prevent evolution of most causes of the MLDs

Clinical profile, prognostic indicators and outcome of Wilson’s Disease in children: a hospital based study.

Background: Wilson’s disease is a common metabolic disease of the tropics, which is treatable, if diagnosed early. In the paediatric group, the manifestations are mainly hepatic. Aims: The objective was to study the varied presentations of the disease and to evaluate the diagnostic values of conventional tests in children. The prognostic importance of different indices in liver disorders was also assessed. Method: The prospective work was carried out in the Paediatric Medicine Department of Nilratan Sircar Medical College & Hospital (NRSMCH) over a span of three years on children 1 through 12 years of age who fulfilled the prerequisite inclusion criteria. Results: The mean age of the 34 children was 7.7 ± 2.13 years. Predominant liver involvement was seen in 17 patients, neurological disturbance in 7 and purely hematological manifestations in 2 cases; the remaining 8 children were incidentally diagnosed whilst screening the siblings of affected subjects. In our series the sensitivity of various diagnostic tests was: 24 hour urinary copper excretion - 100%, serum ceruloplasmin less than 20 mg/ dL - 82.3%, K-F rings - 32.35%. Eighteen of the 23 followed up cases (78.2%) responded to medical treatment. The sensitivity and specificity of the new Wilson Index was more than the Nazer index in predicting mortality with liver involvement. Conclusion: The superiority of the new Wilson Index over the Nazer index has to be validated on a larger scale. As the outcome of management was very promising, a high index of suspicion in pertinent cases can not only check mortality, but also prevent florid manifestations.