The authors describe the case of a patient affected with congenital muscular dystrophy with lack of muscle α-dystroglycan. Brain gross anatomy showed lissencephaly and pachygyria. Light microscopy showed heterotopias in white matter. The brain stem and cerebellum were normal. They found no expression of α-dystroglycan either in the frontal cortex or in the heterotopic nuclei, while a normal expression was found in the cerebellum. These results suggest that α-dystroglycan glycosylation defects may account for both the muscle disease and the brain supratentorial malformation in our patient. The authors did not identify any mutations in the genes most frequently related to these syndromes. Therefore, this case suggests that a new gene may be associated with congenital muscular dystrophy with α-dystroglycan glycosylation defects, cortical migration defects, and sparing of the cerebellum.
- Congenital muscular dystrophies
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health