title: Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system.
abstract: Congenital muscular dystrophy (CMD) is one of the most frequent dystrophies of childhood, which is commonly characterized by neonatal muscle impairment with or without clinical evidence of central nervous system involvement. Several variants of CMD have been described and the disease has recently been classified into five clinically distinct forms: the two classical CMDs with and without deficit of the laminin M chain (merosin), the Fukuyama CMD described in Japanese patients and recently linked to the chromosome 9q31-33, the clinically more severe Walker-Warburg syndrome and the rare muscle-eye-brain disease described in Finnish patients. The most of these forms have central nervous system involvement. This is usually not seen in the classical merosin positive CMD, but can be very severe in the others. Here we describe a 3-year-old Mediterranean child with clinical and histopathological signs of CMD, normal expression of merosin, severe clinical and radiological evidence of central nervous system involvement without defects of neuronal migration or brain malformations and without ocular anomalies. This report suggests that new forms of CMD and cerebral involvement can still be recognized and confirms the heterogeneity of this group of infantile diseases.
authors.affiliation: Institute of Neurological Sciences, University of Siena, Italy.
authors.forename: N
authors.initials: N
authors.lastname: De Stefano
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: M
authors.initials: M
authors.lastname: Villanova
authors.forename: G
authors.initials: G
authors.lastname: Scarano
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D001706:Biopsy; D002493:Central Nervous System Diseases / Q000150:complications* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D007797:Laminin / Q000032:analysis*; D008279:Magnetic Resonance Imaging; D018485:Muscle Fibers, Skeletal / Q000737:chemistry / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D014057:Tomography, X-Ray Computed
chemical_list: D007797:Laminin