Toelle S P, Yalcinkaya C, Kocer N, Deonna T, Overweg-Plandsoen W C G, Bast T, Kalmanchey R, Barsi P, Schneider J F L, Capone Mori A, Boltshauser E
University Children's Hospital, Zurich, Switzerland.
Neuropediatrics. 2002 Aug;33(4):209-14. doi: 10.1055/s-2002-34498.
Rhombencephalosynapsis is a rare congenital abnormality characterised by dorsal fusion of the cerebellar hemispheres, agenesis or hypogenesis of the vermis, fusion of dentate nuclei and superior cerebellar peduncles. We describe 9 children, aged 1.5 to 6 years, with rhombencephalosynapsis. Isolated rhombencephalosynapsis was found in 2 patients, hydrocephalus in 3 children and another 3 children had ventriculomegaly. Additional supratentorial abnormalities were documented in 5 patients. Clinical findings ranged from mild truncal ataxia and normal cognitive abilities to severe cerebral palsy and mental retardation. No correlation between clinical findings and magnetic resonance imaging could be established so far.
菱脑融合是一种罕见的先天性异常，其特征为小脑半球背侧融合、蚓部发育不全或发育不良、齿状核及小脑上脚融合。我们描述了9名年龄在1.5至6岁之间的患有菱脑融合的儿童。2例患者为孤立性菱脑融合，3例儿童患有脑积水，另外3例儿童有脑室扩大。5例患者记录有幕上其他异常。临床表现从轻度躯干共济失调和正常认知能力到严重脑瘫和智力迟钝不等。目前尚未发现临床表现与磁共振成像之间存在相关性。
