Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC HEMIPLEGIA and MACROCEPHALY; MICROCEPHALY; or HYDROCEPHALUS. Mutations in the genes encoding COLLAGEN TYPE IV are associated with familial types.
| Synonym |
|---|
| Posttraumatic Porencephaly |
| Col4a1-Related Brain Small-Vessel Disease |
| Familial Porencephalic White Matter Disease |
| Brain Small Vessel Disease With Axenfeld-Rieger Anomaly |
| Brain Small Vessel Disease with Hemorrhage |
| Infantile Hemiplegia with Porencephaly |
| Familial Porencephaly |
| Leukoencephalopathy with Axenfeld-Rieger Anomaly |
| Developmental Porencephaly |
| Porencephaly Type 1 |
| Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant |
| Porencephaly |
| Post-traumatic Porencephaly |
| Encephaloclastic Porencephaly |
| Porencephaly, Familial |
| Porencephaly, Type 1 |
| Autosomal Dominant Porencephaly Type 1 |
| Brain Small-Vessel Disease with Hemorrhage |
| Porencephaly, Type 1, Autosomal Dominant |
| Congenital Porencephaly |