The congenital muscular dystrophies (CMDs) are a heterogeneous group of disorders. Among these, the laminin α2 chain 'merosin' deficient CMD is caused by mutations of the LAMA2 gene on chr 6q2 and Fukuyama CMD is linked to chr 9q31. We report a 7-year-old boy who was born to consanguineous healthy parents. His motor and mental development were slow. Creatine kinase (CK) was elevated (2.100 U/l), and the muscle biopsy was dystrophic. He sat unsupported at 12 months and took his first steps at 3 years of age. At 6 years of age he could walk up to 500 m. He was mentally retarded and spoke single words only. At 1 year, MR imaging of the brain showed abnormal increased periventricular T2-signal, consistent with dysmyelination as well as pontocerebellar hypoplasia and several cerebellar cysts. The pattern of gyration was normal. Follow-up at 4 years showed normalization of the previously abnormal periventricular T2-signal. Immunohistochemical analysis of the skeletal muscle showed normal expression of laminin α2 for a C- terminal antibody and antibodies to the 300 and 150 kDa fragments, as well as of laminins α5, α1, α2 and γ1. The boy has two healthy younger brothers. Linkage analysis excluded the candidate loci on chromosomes 6q2 and 9q31. As such, the patient's data are suggestive of a new form of laminin α2 positive CMD characterized by transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation.
- Congenital muscular dystrophies
- LAMA2 gene
- Laminin α2 chain deficient
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology