Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management.
BMC Med Genet
; 21(1): 94, 2020 05 06.
Article
em En
| MEDLINE
| ID: mdl-32375665
ABSTRACT
BACKGROUND:
Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase. CASE PRESENTATION We present a case of NPD type B with a unique compound heterozygosity for SMPD1 (NM_000543.4c.[84delC];[96G > A]) in which both mutations that induce an early stop codon are located before the second in-frame initiation codon. The clinical presentation of the patient is compatible with NPD type B. She was initially diagnosed of Gaucher Disease, but her altered lipid profile led to a clinical suspicion of NPD. Combined high doses of atorvastatin and ezetimibe were given to treat the severe hypercholesterolemia.CONCLUSIONS:
The pharmacological management of the lipid profile in these patients is important. A unique compound mutation in SMPD1 gene is described.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Esfingomielina Fosfodiesterase
/
Doença de Niemann-Pick Tipo B
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Lipídeos
Limite:
Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article