Rhombencephalosynapsis associated with autosomal dominant polycystic kidney disease Type 1.
Rhombencephalosynapsis (RES) is a rare congenital malformation of the cerebellum characterized by hypogenesis or agenesis of the vermis and fusion of the cerebellar hemispheres with or without fusion of the dentate nuclei and superior cerebellar peduncles. No genetic or chromosomal abnormalities have been identified for RES. Although the occurrence of RES is presumed to be sporadic, no clear pattern of inheritance has been identified. The authors report on a 17-year-old girl with autosomal dominant polycystic kidney disease Type 1 as well as RES.
Elliott
Robert
R
Department of Neurosurgery, Division of Pediatric Neurosurgery, New York University Medical Center, New York, New York 10016, USA.
Harter
David H
DH
D000293:Adolescent; D002531:Cerebellum / Q000002:abnormalities*; D005260:Female; D006801:Humans; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications* / Q000473:pathology