Global InformationRhombencephalosynapsis information
Rhombencephalosynapsis is a rare genetic brain abnormality of malformation of the cerebellum. The cerebellar vermis is either absent or only partially formed, and fusion is seen in varying degree between the cerebellar hemispheres, fusion of the middle cerebellar peduncles, and fusion of the dentate nuclei.[1] Findings range from mild truncal ataxia, to severe cerebral palsy.[2]
Rhombencephalosynapsis is a constantly found feature of Gomez-Lopez-Hernandez syndrome.[3] One case of which has shown a co-occurrence with autism-spectrum disorder.[4]
- ^ Cotes, C; et al. (June 2015). "Congenital basis of posterior fossa anomalies". The Neuroradiology Journal. 28 (3): 238–53. doi:10.1177/1971400915576665. PMC 4757284. PMID 26246090.
- ^ Toelle SP, Yalcinkaya C, Kocer N, Deonna T, Overweg-Plandsoen WC, Bast T, et al. (August 2002). "Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children". Neuropediatrics. 33 (4): 209–14. doi:10.1055/s-2002-34498. PMID 12368992.
- ^ Fernández-Jaén A, Fernández-Mayoralas DM, Calleja-Pérez B, Muñoz-Jareño N, Moreno N (January 2009). "Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature". Pediatric Neurology. 40 (1): 58–62. doi:10.1016/j.pediatrneurol.2008.10.001. PMID 19068257.
- ^ Kotetishvili B, Makashvili M, Okujava M, Kotetishvili A, Kopadze T (August 2018). "Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature". Intractable & Rare Diseases Research. 7 (3): 191–195. doi:10.5582/irdr.2018.01062. PMC 6119670. PMID 30181940.