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Heterogeneity of Classic Congenital Muscular Dystrophy With Involvement of the Central Nervous System: Report of Five Atypical Cases

Department of Neurology, Clínicas Hospital, School of Medicine, reeds{at}ibm.net

Suely K. Nagahashi Marie, MD, PhD

Department of Neurology, Clínicas Hospital, School of Medicine

Mariz Vainzof, PhD

Department of Neurology, Clínicas Hospital, School of Medicine

Lucio F. Gobbo, MD

Department of Neurology, Clínicas Hospital, School of Medicine

Juliana E.P. Gurgel, MD

Department of Neurology, Clínicas Hospital, School of Medicine

Mary S. Carvalho, MD, PhD

Department of Neurology, Clínicas Hospital, School of Medicine

Maria Bernadete D. Resende, MD

Department of Neurology, Clínicas Hospital, School of Medicine

Adriana A. Espíndola, MD

Department of Neurology, Clínicas Hospital, School of Medicine

Mayana Zatz, PhD

Department of Biology, Institute of Bioscience University of São Paulo, São Paulo, Brazil

Aron Diament, MD, PhD

Department of Neurology, Clínicas Hospital, School of Medicine

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. (J Child Neurol 2000;15:172-178).

Journal of Child Neurology, Vol. 15, No. 3, 172-178 (2000)
DOI: 10.1177/088307380001500306


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