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

• Published in: Journal of clinical neuroscience Vol. 58; pp. 207 - 209
• Main Authors: Garcia, Mary A., Rojas, Jorge A., Millán, Sonia P., Flórez, Adriana A.
• Format: Journal Article
• Language: English
• Published: Scotland Elsevier Ltd 01.12.2018
• Subjects: Adipose triglyceride lipase; Bezafibrate; Delayed Diagnosis; Disease Progression; Dropped hair; Female; Humans; Lipase - genetics; Lipid Metabolism, Inborn Errors - genetics; Lipid Metabolism, Inborn Errors - physiopathology; Middle Aged; Muscular Diseases - genetics; Muscular Diseases - physiopathology; Muscular dystrophy; Mutation, Missense; Myopathy; Neutral lipid storage; Adipose triglyceride lipase; Neutral lipid storage; Dropped hair; Bezafibrate; Muscular dystrophy; Myopathy
• ISSN: 0967-5868; 1532-2653
• DOI: 10.1016/j.jocn.2018.10.046

•We report a novel missense variant in PNPLA2 in a patient with NLSDM.•Heterozygotes individuals for mutations in PNPLA2 may have mild clinical manifestations.•NLSDM is susceptible to pharmacological management.•This case highlights the importance of considering genetic diseases in conditions without usual clinical course. 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.