Jean-Tron G, Ortega-Ponce F, Islas-García D

Language: Spanish
References: 42
Page: 281-285
PDF size: 264.11 Kb.

ABSTRACT

Niemann-Pick disease is an autosomal recessive disorder characterized by a defect in lipid metabolism and lysosomal storage level, whose etiology is related to specific mutations in genes NCP1 and NCP2, producing the accumulation of unesterified cholesterol and sphingolipids in the lysosomes. Because laboratory studies and standard image often appear normal, the diagnosis should be suspected based on clinical manifestations. It is characteristic of this disease the clinical heterogeneity, although some characteristics include ataxia, dysarthria, dysphagia and cognitive impairment. To date there is no specific treatment or disease-modifying therapy, and therefore, the management is limited to symptomatic relief and palliative care. This article describes the case of a patient whose symptoms, mainly progressive cataplexy and extrapyramidal syndrome, were consistent with Niemann-Pick type C, confirmed by neuroimaging, electroencephalogram and neuropathology.

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