Isolated focal cortical dysplasia

Orpha code: 65683OMIM code: 607341

Definicja

Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.

Disease data
Klasyfikacja

Disease

Synonimy
Epilepsy due to FCD
Dysplazja korowa, typu Taylora
Padaczka spowodowana FCD
Kod ORPHA
65683
Kod OMIM
607341
Kod ICD10
Q04.8
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl