Journal of Inherited Metabolic Disease

, 30:986

Acid sphingomyelinase-deficient Niemann–Pick disease: Novel findings in a Greek child

Authors

    • 4th Department of PediatricsAristotle University of Thessaloniki
  • E. H. Schuchman
    • Department of Human GeneticsMount Sinai School of Medicine
  • C. M. Simonaro
    • Department of Human GeneticsMount Sinai School of Medicine
  • P. Augoustides-Savvopoulou
    • 1st Departments of PediatricsAristotle University of Thessaloniki
  • H. Michelakakis
    • Department of Enzymology and Cellular FunctionInstitute of Child Health
  • P. Panagopoulou
    • 4th Department of PediatricsAristotle University of Thessaloniki
  • G. Varlamis
    • 4th Department of PediatricsAristotle University of Thessaloniki
  • S. Nousia-Arvanitakis
    • 4th Department of PediatricsAristotle University of Thessaloniki
Short Report

DOI: 10.1007/s10545-007-0557-3

Cite this article as:
Fotoulaki, M., Schuchman, E.H., Simonaro, C.M. et al. J Inherit Metab Dis (2007) 30: 986. doi:10.1007/s10545-007-0557-3

Summary

Niemann–Pick Disease (NPD) is a heterogeneous group of autosomal recessive disorders characterized by progressive accumulation of sphingomyelin and cholesterol in lysosomes. Six types of NPD have been described based on clinical presentation and involved organs. The primary defect in NPD types A and B is a deficiency of lysosomal acid sphingomyelinase (ASM). We present a case of a 5-year-old boy with type B NPD who had severe clinical manifestations, including heart involvement. He was first admitted to the hospital at 2 months because of vomiting, refusal to feed, lethargy, hepatomegaly and mild transaminasaemia. Liver biopsy at 12 months showed lipid accumulation and fibrosis. Investigations for lysosomal storage disorders revealed increased plasma chitotriosidase (549 nmol/h per ml, normal value 0–150). At 18 months, no detectable ASM activity was observed in cultured fibroblasts (normal range 23–226 nmol/h per mg protein) confirming NPD B. Pulmonary involvement was detected with high-resolution computerized tomography which revealed reticulonodular infiltrations and thickening of the interlobular septa. At 2 years growth retardation and kyphosis were noted. At 2.5 years he manifested neurodevelopment regression, indicating CNS involvement. Cardiac involvement (grade III mitral valve insufficiency) developed at 4 years and heart failure at 5 years. Genetic analysis revealed two mutations: a H421Y mutation that is common in Saudi Arabian and Turkish patients, and a W32X mutation, which has been found in other Mediterranean patients.

Supplementary material

10545_2007_Article_557_ESM.pdf (238 kb)
(PDF 237 kb)

Copyright information

© SSIEM and Springer 2007