Involvement of the Central Nervous System in Congenital Muscular Dystrophies
| Autor: | B. E. Kendall, B. D. Lake, Magda Erdohazi, J. Egger, E. M. Brett, J. Wilson |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Pathology medicine.medical_specialty Adolescent Biopsy Intelligence Central nervous system Neural Conduction Nerve Fibers Myelinated Muscular Dystrophies White matter Atrophy Developmental Neuroscience medicine Humans Child Myopathy Cerebral Cortex Brain Diseases medicine.diagnostic_test business.industry Muscles Brain biopsy medicine.disease Hydrocephalus Surgery medicine.anatomical_structure Child Preschool Cerebellar cortex Pediatrics Perinatology and Child Health Congenital muscular dystrophy Female Neurology (clinical) medicine.symptom Tomography X-Ray Computed business Follow-Up Studies |
| Zdroj: | Developmental Medicine & Child Neurology. 25:32-42 |
| ISSN: | 1469-8749 0012-1622 |
| DOI: | 10.1111/j.1469-8749.1983.tb13719.x |
| Popis: | Three children, two siblings and one unrelated child, with congenital muscular dystrophy with central nervous system (CNS) involvement are discussed. The siblings appeared to suffer from a relatively mild myopathy with progressive brain disease, of which brain biopsy in one showed astrocytic proliferation in the white matter. In the patient with severe muscle disease, autopsy showed widespread patchy demyelination in the white matter and developmental abnormalities in the cerebral and cerebellar cortex. These patients differ from the Japanese (Fukuyama) cases of CMD in the severity of the changes in the cerebral white matter, and from Santavuori's cases in the absence of ocular abnormalities and hydrocephalus. Their unique nosology is discussed. |
| Databáze: | OpenAIRE |
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