Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management

Ordieres-Ortega, L. ; Galeano-Valle, F. ; Mallén-Pérez, M. ; Muñoz-Delgado, C. ; Apaza-Chavez, J.E. ; Menárguez-Palanca, F.J. ; Alvarez-Sala Walther, L.A. ; Demelo-Rodríguez, P.

Resumen: 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_000543.4:c.[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.

Idioma: Inglés

DOI: 10.1186/s12881-020-01027-9

Año: 2020

Publicado en: BMC medical genetics 21 (2020), 94 [6 pp.]
ISSN: 1471-2350

Factor impacto JCR: 2.103 (2020)

Categ. JCR: GENETICS & HEREDITY rank: 131 / 175 = 0.749 (2020) - Q3 - T3

Factor impacto SCIMAGO: 0.669 - Genetics (clinical) (Q3) - Genetics (Q3)

Tipo y forma: Artículo (Versión definitiva)