Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly.

Abstract excerpt

Neutral lipid storage disease with myopathy is an ultra-rare, inherited autosomal recessive neuromuscular metabolic disorder caused by pathogenic variants in PNPLA2. It typically presents in adults as a progressive myopathy and is associated with myocardiopathy, hepatic involvement, and high creatine kinase levels. Only three children and adolescents with neutral lipid storage disease with myopathy have been...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child, Preschool
• Share to Hepatomegaly