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.
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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)
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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
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