CNS in Congenital Muscular Dystrophy Without Mental Retardation

We have evaluated the CNS findings of 30 patients with congenital muscular dystrophy and normal mental development. The intelligence was estimated by psychological testing or school performance. There were more children of above average intelligence than expected. Neuroradiological examination was done to 15/17 patients still alive. White matter changes were seen in five and cerebral atrophy in four patients. Three patients had epilepsy, two mild, one drug resistant. The EEG did not reveal any common pattern, though there were various abnormalities in several children.

[1]  H. Topaloglu,et al.  Congenital Muscular Dystrophy with Cerebral Involvement - Report of a Case of "Occidental Type Cerebromuscular Dystrophy"? , 1990, Neuropediatrics.

[2]  L. Ketonen,et al.  Muscle-eye-brain disease (MEB) , 1989, Brain and Development.

[3]  T. Miike,et al.  Localization and characterization of dystrophin in muscle biopsy specimens from Duchenne muscular dystrophy and various neuromuscular disorders , 1989, Muscle & nerve.

[4]  L. Kunkel,et al.  Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[5]  L B Holmes,et al.  Diagnostic criteria for Walker-Warburg syndrome. , 1989, American journal of medical genetics.

[6]  M. Yoshioka,et al.  Congenital muscular dystrophy (Fukuyama type) — Changes in the white matter low density on CT , 1988, Brain and Development.

[7]  M. Yoshioka,et al.  Congenital muscular dystrophy of non-Fukuyama type with characteristic CT images , 1987, Brain and Development.

[8]  C. Tassinari,et al.  Periodic Spasms: An Unclassified Type Of Epileptic Seizure In Childhood , 1987, Developmental medicine and child neurology.

[9]  B. Echenne,et al.  Congenital muscular dystrophy with cerebral white matter spongiosis , 1984, Brain and Development.

[10]  K. Takada.  Cortical Dysplasia in Congenital Muscular Dystrophy with Central Nervous System Involvement (Fukuyama Type) , 1984, Journal of neuropathology and experimental neurology.

[11]  E. Brett,et al.  Involvement of the Central Nervous System in Congenital Muscular Dystrophies , 1983, Developmental medicine and child neurology.

[12]  A. G. Nogen.  Congenital Muscle Disease and Abnormal Findings on Computerized Tomography , 1980, Developmental medicine and child neurology.

[13]  T. Naidich,et al.  Myoencephalopathy: cerebral hypomyelination revealed by CT scan of the head in a muscle disease. , 1979, Transactions of the American Neurological Association.

[14]  J. Rapola,et al.  Congenital Muscular Dystrophy: A Clinico-Pathological and Follow-Up Study of 15 Patients , 1975, Neuropadiatrie.

[15]  P. Martinelli,et al.  Congenital muscular dystrophy with central nervous system involvement: case report. , 1987, European neurology.

[16]  Y. Konishi,et al.  Congenital muscular dystrophy (Fukuyama type). Repeated CT studies in 19 children. , 1981, Computerized tomography.