Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis
Registro en:
0967-5868 / 1532-2653 (Electrónico)
Autor
García Acero, Mary Alexandra
Rojas Martínez, Jorge Armando
Millán Pérez, Sonia Patricia
Florez, Adriana A.
Resumen
Neutral lipid storage disease with myopathy (NLSDM) is characterized by the accumulation of cytoplasmic triglyceride droplets in various tissues; this very rare condition is caused by mutations in the PNPLA2 gene, susceptible to specific pharmacological management that decreases clinical progression. We
describe the clinical and biochemical characteristics of a Colombian patient with a previously unreported homozygous mutation in the PNPLA2 gene with a difficult to manage disease, who was diagnosed late by advances in molecular techniques.