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Journal of Pediatric Neurology 2021; 19(06): 432-435
DOI: 10.1055/s-0040-1722209
Case Report

Niemann-Pick Disease Type C with Isolated Splenomegaly: A Case Report in a Child

Bruna Ribeiro Torres 
1   Department of Pediatric Neurology, Hospital Infantil João Paulo II, Belo Horizonte, Minas Gerais, Brazil
,
Daniela Otoni Russo
2   Department of Pediatric Infectology, Hospital Infantil João Paulo II, Belo Horizonte, Minas Gerais, Brazil
,
Vinícius Andrade Gomes Vuolo
3   Department of Pediatric Infectology, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil
,
Tarcísio Silva Borborema
4   Department of Pediatric Hematology, Hospital Infantil João Paulo II, Belo Horizonte, Minas Gerais, Brazil
,
André Vinícius Soares Barbosa
1   Department of Pediatric Neurology, Hospital Infantil João Paulo II, Belo Horizonte, Minas Gerais, Brazil
,
Lílian Martins Oliveira Diniz
2   Department of Pediatric Infectology, Hospital Infantil João Paulo II, Belo Horizonte, Minas Gerais, Brazil
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Abstract

Niemann-Pick disease type C is an innate error of lysosomal storage metabolism with an autosomal recessive inheritance pattern. The disease causes intracellular cholesterol accumulation and changes in sphingolipid metabolism. If cholesterol accumulates, the signs and symptoms of visceral involvement predominate. Neurological involvement results from sphingolipid accumulation. A 7-year-old male patient was referred to a tertiary service for the investigation of asymptomatic splenomegaly. Following an extensive examination, he was diagnosed with Niemann-Pick disease type C. Interestingly, this case's only symptom was splenomegaly.

Keywords

Niemann-Pick disease type C - lysosomal storage metabolism - splenomegaly


Publication History

Received: 07 September 2020

Accepted: 17 November 2020

Article published online:
13 January 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
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