Journal of Pediatric Neurology
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  Pediatric Neurology, Hospital Infantil João Paulo II, Belo Horizonte, Minas Gerais, Brazil
,
Daniela Otoni Russo
2  Pediatric Infectology, Hospital Infantil João Paulo II, Belo Horizonte, Minas Gerais, Brazil
,
Vinícius Andrade Gomes Vuolo
3  Pediatric Infectology, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil
,
Tarcísio Silva Borborema
4  Pediatric Hematology, Hospital Infantil João Paulo II, Belo Horizonte, Minas Gerais, Brazil
,
1  Pediatric Neurology, Hospital Infantil João Paulo II, Belo Horizonte, Minas Gerais, Brazil
,
Lílian Martins Oliveira Diniz
2  Pediatric Infectology, Hospital Infantil João Paulo II, Belo Horizonte, Minas Gerais, Brazil
› Author Affiliations

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 student 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.



Publication History

Received: 07 September 2020

Accepted: 17 November 2020

Publication Date:
13 January 2021 (online)

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