Danon disease: an unusual presentation of autism.
Danon disease is an X-linked cardioskeletal myopathy, originally reported as "lysosomal glycogen storage disease with normal acid maltase," resulting from a primary deficiency of lysosome-associated membrane protein-2 because of mutations in the lysosome-associated membrane protein-2 gene. Classic clinical features in males include cardiomyopathy (100%, eventually), myopathy (90%), and mental retardation (70%), but mostly of a mild degree. We report on an unusual presentation in a patient with autism, motor delay, and a normal cardiac evaluation. The presence of multiorgan involvement, including elevated liver enzymes, abnormal cranial magnetic resonance imaging, and diffuse hypotonia with swallowing difficulties, prompted a muscle biopsy. A quadriceps muscle biopsy was performed, and the findings were most suspicious for a glycogen storage-type disease. Subsequently, a pathogenic lysosome-associated membrane protein-2 mutation was found. To our knowledge, there are no previous clinical reports of autism in children with Danon disease.
Burusnukul
Prinyarat
P
Department of Pediatrics and Neurology, Nationwide Children's Hospital and Ohio State University, 700 Children's Drive, Columbus, Ohio 43205, USA. Prinyarat.Burusnukul@nationwidechildrens.org
de Los Reyes
Emily C
EC
Yinger
Jacqueline
J
Boué
Daniel R
DR
D001321:Autistic Disorder / Q000209:etiology* / Q000523:psychology; D001921:Brain / Q000473:pathology; D040181:Genetic Diseases, X-Linked / Q000473:pathology* / Q000523:psychology; D052120:Glycogen Storage Disease Type IIb / Q000150:complications* / Q000523:psychology; D006801:Humans; D007223:Infant; D020140:Lysosomal Storage Diseases, Nervous System / Q000473:pathology* / Q000523:psychology; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000473:pathology* / Q000523:psychology; D013577:Syndrome