Niemann Pick Type C Disease

Niemann-Pick type C disease (NPC), an autosomal recessive multiorgan disease, is caused by mutations in the gene NPC1 located on chromosome 18, and less often by mutations in the gene NPC2 located on chromosome 14. Abnormalities in intracellular cholesterol trafficking are major biochemical defects. Complex lipids accumulate in visceral organs, and glycolipids accumulate in the brain.

The disease can occur from the neonatal period through adulthood. The clinical presentation varies with age of onset. Hepatosplenomegaly is prevalent in neonates; psychomotor regression, vertical gaze palsy, and ataxia in young children; dysarthria, dysphagia, extrapyramidal disorders, behavioral changes, and intellectual decline in juveniles; and psychiatric symptoms and dementia in adults.

Grossly, the brain is atrophic. The histology consists of the following:

• The neurons are ballooned, containing storage material that stains with PAS and Luxol fast blue. A number of neurons display neurofibrillary tangles, similar to those in Alzheimer's disease.

• Axonal dystrophy in the form of axonal spheroids and focal swellings are prevalent throughout the cerebrum.

The liver, spleen, lymph nodes, and lungs show foamy cells that contain complex lipids.

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