Hereditary porencephaly: clinical and MRI findings in two Dutch families.
Eur J Paediatr Neurol
; 8(1): 45-54, 2004.
Article
en En
| MEDLINE
| ID: mdl-15023374
ABSTRACT
Familial porencephaly is a rare disorder causing motor impairment, hemiplegia, mental retardation and epilepsy in variable degrees. Two families with porencephaly and apparently dominant inheritance are reported. Brain MRI findings are reviewed and described in seven affected individuals. Most patients also show white matter abnormalities in the cerebral hemisphere, also contralateral to the cystic lesion. In the first family an obligate carrier was identified who did not have a cystic lesion but clear abnormalities of the white matter. Although a predisposition for thrombophilia has previously been reported, we did not observe any genetic, environmental or epigenetic predisposition for the porencephaly. The lesions are most compatible with a deep venous thrombosis/ischemic event occurring in a late stage of pregnancy, not necessarily aggravated by perinatal asphyxia.
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Banco de datos:
MEDLINE
Asunto principal:
Encéfalo
/
Imagen por Resonancia Magnética
/
Quistes del Sistema Nervioso Central
Tipo de estudio:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Middle aged
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Pregnancy
País/Región como asunto:
Europa
Idioma:
En
Año:
2004
Tipo del documento:
Article