Vargas DJ, Garófalo GN, Novoa LLM, Bello CSM, de Greta BLV

Language: Spanish
References: 18
Page: 1-9
PDF size: 315.68 Kb.

ABSTRACT

Introduction: Niemann-Pick type C disease is a non-frequent, recessive autosomal one, which is characterized by lipids deposit in the lysosomal level. Although this disease is treatable, it is fatal in all the cases and it represents a important burden to patients and their families.
Objective: To contribute to the knowledge on this rare, progressive neurovisceral disease with fatal evolution.
Case presentation: Seven- years- old girl, whom at two years old attended to a consultation for walk disorders presenting a progressive worsening of it, as well of the speech, and also presented an onset of epileptic crisis. In the evolution she presented gelastic cataplexy, vertical look´s paresia and splenomegaly. These clinical evolutive elements were sufficiently distinctive to indicate the clinical suspicion and the necessary research to reach its definitive diagnostic. With the confirmation of Niemann-Pick type C disease, miglustad was used as treatment with a dose of 100 mg twice in the day.
Conclusions: Progressive neurological worsening, gelastic cataplexy, vertical look´s paresia and splenomegaly joined with the results of a medulogram and the genetic study permitted this disease to be identified.

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