title: Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases.
abstract: A heterogeneous group of patients with congenital muscular dystrophy associated with clinical or radiologic central nervous system involvement other than the severe classic form with merosin deficiency, muscle-eye-brain disease, and Walker-Warburg syndrome is described. A probable hereditary or familial occurrence could be suggested in all patients. One merosin-positive patient presented severe motor incapacity and cerebral atrophy without any clinical manifestation of central nervous system involvement. A second patient, also merosin-positive, had moderate motor and mental handicap, and epilepsy with no changes in neuroimaging. A third patient, found to have partial merosin deficiency by muscle biopsy, manifested severe psychomotor retardation and cerebral atrophy with foci of abnormal white-matter signal on magnetic resonance imaging. Finally, two merosin-positive siblings with microcephaly, mental retardation, and an incapacitating progressive neuromuscular course, exhibited cataracts without defects of neuronal migration or brain malformation. This report emphasizes the broad clinical spectrum and heterogeneity of merosin-positive congenital muscular dystrophy with associated central nervous system involvement, and illustrates the importance of further studies on clinical, immunohistochemical, and genetic grounds for identifying new subsets of congenital muscular dystrophy.
authors.affiliation: Department of Neurology, Clínicas Hospital, School of Medicine, University of São Paulo, Brazil. reeds@ibm.net
authors.forename: U C
authors.initials: UC
authors.lastname: Reed
authors.forename: S K
authors.initials: SK
authors.lastname: Marie
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.forename: L F
authors.initials: LF
authors.lastname: Gobbo
authors.forename: J E
authors.initials: JE
authors.lastname: Gurgel
authors.forename: M S
authors.initials: MS
authors.lastname: Carvalho
authors.forename: M B
authors.initials: MB
authors.lastname: Resende
authors.forename: A A
authors.initials: AA
authors.lastname: Espíndola
authors.forename: M
authors.initials: M
authors.lastname: Zatz
authors.forename: A
authors.initials: A
authors.lastname: Diament
mesh_terms: D001284:Atrophy; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D016189:Dystrophin / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007797:Laminin / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009460:Neurologic Examination
chemical_list: D016189:Dystrophin; D007797:Laminin; C102645:laminin alpha 2