Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report.
BMC Musculoskelet Disord
; 25(1): 661, 2024 Aug 23.
Article
en En
| MEDLINE
| ID: mdl-39174932
ABSTRACT
BACKGROUND:
Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare lipid metabolism disorder caused by PNPLA2 gene mutations. Clinical manifestations are heterogeneous, and diagnosis is often delayed, usually gaining patients' attention due to the increased risk of cardiomyopathy. CASE PRESENTATION We herein report a 36-year-old Asian male presenting with progressive limb weakness, muscle atrophy of limbs and trunk, dysarthria, and heart failure. Electromyography indicated myogenic changes, and muscle biopsy results revealed characteristics of lipid storage myopathy. Genetic analysis of PNPLA2 revealed two heterozygous mutations c.757 + 1G > T (chr11-823588, splice-5) on intron 6 and c.919delG (chr11-823854, p.A307Pfs*13) on exon 7. The patient improved limb strength, and dysarthria disappeared after the Medium Chain Fatty Acids diet.CONCLUSIONS:
In conclusion, we report for the first time that the two heterozygous mutations PNPLA2 c.919delG and c.757 + 1G > T together induced NLSDM, which was confirmed by muscle biopsy.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Heterocigoto
/
Lipasa
/
Errores Innatos del Metabolismo Lipídico
/
Enfermedades Musculares
/
Mutación
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
BMC Musculoskelet Disord
Asunto de la revista:
FISIOLOGIA
/
ORTOPEDIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
Reino Unido