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Niemann–Pick disease

Niemann–Pick disease
Classification and external resources
Specialty endocrinology
ICD-10 E75.2 (ILDS E75.230)
ICD-9-CM 272.7
OMIM 257200 257220 601015 607608 607616 607623 607625
DiseasesDB

9016 34341

33390
MedlinePlus 001207
eMedicine derm/699
Patient UK Niemann–Pick disease
MeSH D009542
GeneReviews
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9016 34341

Niemann–Pick disease (/nmənˈpɪk/ nee-mən-PIK) is a group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.

The prognosis is individual, but the severe form is fatal in toddlerhood and, in some cases, patients with the milder forms may have normal lifespans.

This disease involves dysfunctional metabolism of sphingolipids, which are fats found in cell membranes, so it is a kind of sphingolipidosis. Sphingolipidoses, in turn, are included in the larger family of lysosomal storage diseases.

Symptoms are related to the organs in which sphingomyelin accumulates. Enlargement of the liver and spleen (hepatosplenomegaly) may cause reduced appetite, abdominal distension, and pain. Enlargement of the spleen (splenomegaly) may also cause low levels of platelets in the blood (thrombocytopenia).

Accumulation of sphingomyelin in the central nervous system (including the cerebellum) results in unsteady gait (ataxia), slurring of speech (dysarthria), and difficulty in swallowing (dysphagia). Basal ganglia dysfunction causes abnormal posturing of the limbs, trunk, and face (dystonia). Upper brainstem disease results in impaired voluntary rapid eye movements (supranuclear gaze palsy). More widespread disease involving the cerebral cortex and subcortical structures causes gradual loss of intellectual abilities, causing dementia and seizures.


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