Porencephaly [porencefalie]

topical
Terms

encefaloklastická porencefalie
porencefalie typ 1
porencephalia
vrozená porencefalie
vývojová porencefalie

 

Autosomal Dominant Porencephaly Type 1
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
Brain Small Vessel Disease with Hemorrhage
Brain Small-Vessel Disease with Hemorrhage
Col4a1-Related Brain Small-Vessel Disease
Congenital Porencephaly
Developmental Porencephaly
Encephaloclastic Porencephaly
Familial Porencephalic White Matter Disease
Familial Porencephaly
Infantile Hemiplegia with Porencephaly
Leukoencephalopathy with Axenfeld-Rieger Anomaly
Porencephaly Type 1
Porencephaly, Familial
Porencephaly, Type 1
Porencephaly, Type 1, Autosomal Dominant
Post-traumatic Porencephaly
Posttraumatic Porencephaly
Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant

Persistent link   https://www.medvik.cz/link/D065708
Definition

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.

DUI
D065708 MeSH Browser
CUI
M0590449
Previous indexing
Brain Diseases (1963-2014)
History note
2015
Public note
2015

Porencephaly cerebellar hypoplasia malformations Disease MeSH Browser