Rhombencephalosynapsis: embryopathology and management strategies of associated neurosurgical conditions with a review of the literature

Object Rhombencephalosynapsis (RS) is a rare congenital posterior fossa malformation characterized by dorsal fusion of the cerebellar hemispheres, hypogenesis or agenesis of the vermis, and fusion of the dentate nuclei and superior cerebellar peduncles. The objective of this institutional study is to review the clinical conditions associated with RS and analyze the varied biological profile of this unique condition. Methods The study data were collected retrospectively from the medical records of patients at Rainbow Babies and Children's Hospital. After required institutional review board approval, the authors obtained information regarding the cases of RS reviewed by the Departments of Radiology, Genetics, and/or Pediatric Neurology. Medical charts were systematically reviewed, and 9 patients were analyzed in detail. Results The authors describe 6 cases of RS and 3 cases of partial RS. This case series demonstrates an association between RS and symptomatic hydrocephalus (7 of 9 patients) and RS and Chiar...