title: Etiology, clinical spectrum and outcome of metabolic liver diseases in children.
abstract: OBJECTIVE
  To determine the etiology, clinical spectrum and outcome of metabolic liver diseases (MLD) in children admitted in a tertiary care hospital of Eastern India.
  
  
  METHODS
  An observational study.
  
  
  METHODS
  Paediatric Liver Clinic and Paediatrics Inpatient Department of Nilratan Sircar Medical College and Hospital, Kolkata, Eastern India, from April 2009 to March 2011.
  
  
  METHODS
  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.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  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.
authors: Department of Paediatric Medicine, North Bengal Medical College and Hospital, Shushrutnagar, Darjeeling, West Bengal, India.
authors: Abhishek
authors: A
authors: Roy
authors: Tryambak
authors: T
authors: Samanta
authors: Radheshyam
authors: R
authors: Purkait
authors: Aritra
authors: A
authors: Mukherji
authors: Sutapa
authors: S
authors: Ganguly
mesh_terms: D017677:Age Distribution; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006784:Hospitals, Teaching; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D007231:Infant, Newborn; D008107:Liver Diseases / Q000453:epidemiology / Q000209:etiology* / Q000473:pathology; D008297:Male; D008659:Metabolic Diseases / Q000453:epidemiology / Q000209:etiology* / Q000473:pathology; D017678:Sex Distribution