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Niemann-Pick type C disease.

Jayesh J Sheth¹, Frenny J Sheth, Nrupesh Oza

¹Foundation for Research in Genetics and Endocrinology, Genetic Center, FRIGE House, Jodhpur Road, Satellite, Ahmedabad, Gujarat, India. jshethad1@sancharnet.in

Indian Pediatrics

|July 5, 2008

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A rare genetic disorder, Niemann-Pick type C, was diagnosed in a young girl presenting with neurological regression and enlarged liver. Definitive diagnosis required fibroblast analysis after initial enzyme tests were inconclusive.

Area of Science:

Medical Genetics
Pediatric Neurology
Lysosomal Storage Disorders

Background:

Niemann-Pick type C is a rare, autosomal recessive lysosomal storage disorder.
It leads to progressive neurological deterioration and organomegaly.
Diagnostic challenges arise from overlapping symptoms with other storage diseases.

Observation:

A 4-year-old Afghan girl exhibited progressive neurological regression and hepatomegaly.
Clinical signs included hypotonia, falls, and facial dyskinesia.
Bone marrow examination showed storage cells, initially suggesting Gaucher or Niemann-Pick disease.

Findings:

Leukocyte lysosomal enzyme assays for beta-Glucosidase and sphingomyelinase were normal.
Cultured skin fibroblasts, stained with filipin in lipid-deficient medium, revealed characteristic dark punctate granules.

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These findings confirmed the diagnosis of Niemann-Pick type C.

Implications:

Highlights the importance of advanced diagnostic techniques like fibroblast analysis for rare genetic disorders.
Underscores the diagnostic complexity of lysosomal storage diseases.
Contributes to understanding the clinical presentation and diagnostic pathway for Niemann-Pick type C.