Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging.

ABSTRACT:

Background

Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disease caused by mutation in the GBE1 gene. Presentation of GSD IV varies on a continuum of severity and symptomatology ranging from neonatal death to mild adult-onset disease with variable involvement of hepatic, muscular, neurologic, dermatologic, and cardiac systems. Cardiomyopathy seen in GSD IV is also heterogeneous and its appearance on cardiac magnetic resonance imaging (CMR) is rarely described.

Case summary

A 29-year-old man without previous medical history was admitted to our facility multiple times over 2 years for focal sensorimotor deficits, gout arthropathy, chronic hyperlactataemia and hyperuricaemia, and severe decompensated non-ischaemic cardiomyopathy com

SUBMITTER: Lyo S 

PROVIDER: S-EPMC7319828 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature