Journal of Postgraduate Medicine, Education and Research

Register      Login

VOLUME 50 , ISSUE 2 ( April-June, 2016 ) > List of Articles


A 12-year-old Girl with Massive Hepatosplenomegaly

SC Varma, Nandita Kakkar, Renu Suthar, Akshay Saxena, Sadhana Lal

Citation Information : Varma S, Kakkar N, Suthar R, Saxena A, Lal S. A 12-year-old Girl with Massive Hepatosplenomegaly. J Postgrad Med Edu Res 2016; 50 (2):112-121.

DOI: 10.5005/jpmer-50-2-112

License: CC BY-ND 4.0

Published Online: 01-06-2016

Copyright Statement:  Copyright © 2016; Jaypee Brothers Medical Publishers (P) Ltd.


PDF Share
  1. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 2006 Jun;160(6):603-608.
  2. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inherit Metab Dis 2007 Oct;30(5):654-663.
  3. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. Mol Genet Metab 2012 Nov;107(3):526-533.
  4. Primary familial xanthomatosis with involvement and calcification of the adrenals. Report of two more cases in siblings of a previously described infant. Pediatrics 1961 Nov;28:742-757.
  5. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol 2013 Jun;58(6):1230-1243.
  6. Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens. Histopathology 2012 Jun;60(7):1107-1113.
  7. A non-classical presentation of Tangier disease with three ABCA1 mutations. JIMD Rep 2012;4:109-111.
  8. Renal involvement in Neimann-Pick disease. NDT Plus 2009 Dec;2(6):448-451.
  9. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics 2004 Dec;114(6):e672-e677.
  10. Lipid abnormalities in children with types A and B Niemann Pick disease. J Pediatr 2004 Jul;145(1):77-81.
  11. Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). Am J Surg Pathol 2012 Aug;36(8):1234-1246.
  12. Cathepsin B overexpression due to acid sphingomyelinase ablation promotes liver fibrosis in Niemann-Pick disease. J Biol Chem 2012 Jan;287(2):1178-1188.
  13. Increased sphingomyelin content impairs HDL biogenesis and maturation in human Niemann-Pick disease type B. J Lipid Res 2006 Mar;47(3):622-632.
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.