Niemann-Pick Disease


A type of lysosomal storage disease
Biochemical diagnosis:

  • Fibroblast culture to test for impaired LDL-cholesterol trafficking.
  • Filipin staining: accumulated free cholesterol.
  • Impaired LDL-induced cholesterol ester formation.
  • A variant biochemical form exists


Autosomal recessive
Niemann-Pick disease type C: gene= NPC1 at 18q11 or NPC2 14q

Clinical features:

Type A: Infantile, severe, cherry red macula, lungs are also involved
Type B: Massive hepatomegaly, splenomegaly. No neurological involvement.
Type C and D: Adult form (adolescent to adult). See below.

  • Cortical (Cognitive, psychiatric and seizures)
  • Deep brain (cerebellar ataxia, dysarthria, vertical supranuclear ophthalmoplegia, deafness, dysphagia, cataplexy, pyramidal syndrome, movement disorder/dystonia/myoclonic jerks)

Visceral (hepatomegaly, splenomegaly) involvement.

Findings on investigations:

MRI in Type C:

  • Normal initially
  • Atrophy corresponding to the clinical syndrome i.e. Frontal lobes, corpus callosum, brainstem, cerebellum,

EEG: Generalised slowing


Foam cells (marcophages with abundant vacuolated cytoplasm) in bone marrow, spleen, lymph nodes
Brain (types A,C): atrophy, severe gliosis, neurons are enlarged with abundant cytoplasm and small vacuoles.


Miglustat intravenously

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