Danon disease: an unusual presentation of autism.

Abstract

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.

• Authors: Prinyarat Burusnukul, Emily C de Los Reyes, Jacqueline Yinger, Daniel R Boué
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 39 Issue 1 Pg. 52-4 (Jul 2008) ISSN: 0887-8994 [Print] United States
• PMID: 18555174 (Publication Type: Case Reports, Journal Article)

Topics

• Autistic Disorder (etiology, psychology)
• Brain (pathology)
• Genetic Diseases, X-Linked (pathology, psychology)
• Glycogen Storage Disease Type IIb (complications, psychology)
• Humans
• Infant
• Lysosomal Storage Diseases, Nervous System (pathology, psychology)
• Magnetic Resonance Imaging
• Male
• Muscle, Skeletal (pathology)
• Muscular Diseases (pathology, psychology)
• Syndrome