Search
rhombencephalosynapsis
congenital anomaly of the cerebellum
Etiology:
- fetal insult day 28-44 of gestation
Epidemiology:
- very rare
Pathology:
- absence of cerebellar vermis absence
- continuity of cerebellar hemispheres, dentate nuclei, & superior cerebellar peduncles
- transversely oriented single lobed cerebellum
- may occur as an isolated anomaly (rare) or as part of wider cerebral malformation
Clinical manifestations:
- variable degrees of neurological impairment ranging from early death to variable cerebellar dysfunction & neurodevelopmental delay
- some patients may reach adulthood
Radiology:
- MRI of brain (neuroimaging)
- absent anterior cerebellar vermis
- deficient posterior cerebellar vermis
- fusion of cerebellar hemispheres
- fusion of dentate nuclei
- fusion of superior cerebellar peduncles
* MRI images [1,2]
General
congenital anomaly (birth defect)
developmental disorder
disease/disorder primarily affecting brain
References
- Gaillard F
Rhombencephalosynapsis
https://radiopaedia.org/articles/rhombencephalosynapsis
- Ishak GE, Dempsey JC, Shaw DW et al
Rhombencephalosynapsis: a hindbrain malformation associated
with incomplete separation of midbrain and forebrain,
hydrocephalus and a broad spectrum of severity.
Brain. 2012 May;135(Pt 5):1370-86. Epub 2012 Mar 26.
PMID: 22451504 Free PMC Article