Hereditary porencephaly: clinical and MRI findings in two Dutch families
G M S Mancini1, I F M de Coo, M H Lequin
1Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands. g.mancini@erasmusmc.nl
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.
Insights
Familial porencephaly, a rare brain disorder, presents with variable motor and cognitive impairments. This study suggests a potential late-pregnancy venous thrombosis/ischemic event as the cause, rather than genetic factors.
Area of Science:
- Neurology
- Medical Genetics
- Developmental Neuroscience
Background:
- Familial porencephaly is a rare neurological disorder characterized by motor impairment, hemiplegia, mental retardation, and epilepsy.
- The inheritance pattern can be complex, with previous reports suggesting dominant inheritance in some families.
- Understanding the etiology is crucial for diagnosis and management.
Observation:
- This study reports on two families with porencephaly exhibiting apparent dominant inheritance.
- Brain MRI findings in seven affected individuals revealed cystic lesions and contralateral white matter abnormalities.
- An obligate carrier in one family showed white matter abnormalities without a cystic lesion.
Findings:
- The observed lesions are most consistent with a deep venous thrombosis or ischemic event during late pregnancy.
- No genetic, environmental, or epigenetic predisposition for porencephaly was identified in this cohort.
- Perinatal asphyxia did not appear to be a significant aggravating factor.
Implications:
- The findings suggest a potential vascular etiology for familial porencephaly, possibly linked to late-term pregnancy events.
- This challenges previous assumptions about genetic inheritance and highlights the role of prenatal vascular insults.
- Further research into prenatal vascular events may offer new diagnostic and therapeutic avenues for porencephaly.
