Heterogeneity of Classic Congenital Muscular Dystrophy With Involvement of the Central Nervous System: Report of Five Atypical Cases
| Autor: | Juliana E.P. Gurgel, M.B.D. Resende, Mayana Zatz, Lucio F. Gobbo, Suely Kazue Nagahashi Marie, Adriana Ávila de Espíndola, Umbertina Conti Reed, Aron J. Diament, Mary S. Carvalho, Mariz Vainzof |
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| Rok vydání: | 2000 |
| Předmět: |
Male
medicine.medical_specialty Microcephaly Pediatrics Central nervous system Muscular Dystrophies Diagnosis Differential Dystrophin 03 medical and health sciences Epilepsy 0302 clinical medicine Neuroimaging Cataracts 030225 pediatrics medicine Humans Child Muscle Skeletal Neurologic Examination Cerebral atrophy Brain Diseases Muscle biopsy medicine.diagnostic_test business.industry Brain Infant medicine.disease Magnetic Resonance Imaging medicine.anatomical_structure Child Preschool Pediatrics Perinatology and Child Health Congenital muscular dystrophy Physical therapy Female Laminin Neurology (clinical) Atrophy business 030217 neurology & neurosurgery Follow-Up Studies |
| Zdroj: | Journal of Child Neurology. 15:172-178 |
| ISSN: | 1708-8283 0883-0738 |
| DOI: | 10.1177/088307380001500306 |
| Popis: | 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). |
| Databáze: | OpenAIRE |
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