title: Hereditary porencephaly: clinical and MRI findings in two Dutch families.
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.
authors.affiliation: Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands. g.mancini@erasmusmc.nl
authors.forename: G M S
authors.initials: GM
authors.lastname: Mancini
authors.forename: I F M
authors.initials: IF
authors.lastname: de Coo
authors.forename: M H
authors.initials: MH
authors.lastname: Lequin
authors.forename: W F
authors.initials: WF
authors.lastname: Arts
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D020863:Central Nervous System Cysts / Q000175:diagnosis / Q000235:genetics*; D002552:Cerebral Ventricles / Q000002:abnormalities / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004292:Dominance, Cerebral / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D009460:Neurologic Examination; D010375:Pedigree; D011247:Pregnancy; D019851:Thrombophilia / Q000175:diagnosis / Q000235:genetics; D014057:Tomography, X-Ray Computed