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.
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
Prinyarat
P
Burusnukul
Emily C
EC
de Los Reyes
Jacqueline
J
Yinger
Daniel R
DR
Boué
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