Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis.

Autor: Garcia MA; Resident of Medical Genetics in Human Genetic Institute, Pontificia Universidad Javeriana, 11001000, Bogotá, Colombia. Electronic address: garcia.mary@javeriana.edu.co., Rojas JA; Geneticist of Hospital Universitario San Ignacio, 110141 Bogotá, Colombia., Millán SP; Hospital Universitario San Ignacio, 110141 Bogotá, Colombia., Flórez AA; Fundación Santa Fe de Bogotá, 110111 Bogotá, Colombia.
Jazyk: angličtina
Zdroj: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia [J Clin Neurosci] 2018 Dec; Vol. 58, pp. 207-209. Date of Electronic Publication: 2018 Oct 22.
DOI: 10.1016/j.jocn.2018.10.046
Abstrakt: 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.
(Copyright © 2018 Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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