Porencephaly

NINDS Porencephaly Information Page
Skip secondary menu
Home
Disorders A - Z ...

Autosomal dominant porencephaly type I is a rare genetic disorder in which fluid-filled cysts and cavities develop on the surface of the brain. Autosomal dominant porencephaly type I is caused by mutations of the COL4A1 gene.

Familial porencephaly ... absent speech development, speech problems
Farber Disease ... Hoarseness
Farber's disease ... hoarseness
Fatal familial insomnia ... speaking difficulty
Fazio-Londe syndrome ... speaking difficulty
Fetal alcohol syndrome ...

Hydranencephaly is an extreme form of porencephaly (a disorder characterized by a cyst or cavity in the cerebral hemispheres) and may be caused by a vascular insult or injuries, infections, or traumatic disorders after the 12th week of pregnancy.

FIG. 10. Left hemisphere and cerebellum of a case of porencephaly. A local atrophy of the convolutions, owing to a vascular lesion before birth, is seen in the parietal lobe.
XIX. 430.

- Microcephaly - Congenital hydrocephalus (Dandy-Walker syndrome) - other reduction deformities (Holoprosencephaly, Lissencephaly, Pachygyria, Hydranencephaly) - Septo-optic dysplasia - Megalencephaly - Congenital cerebral cysts (Porencephaly, ...

callus formation, cortical hyperostosis extending to epiphyseal plate, avulsion fracture at ligamentous insertion, subdural haematoma (most common), brain atrophy (up to 100%), infarction (50%), subdural hygroma, encephalomalacia, porencephaly ...

See also: Symptom, Seizure, Stroke, Seizures, Paralysis