Tamraz J, Rethoré M O, Lejeune J, Outin C, Goepel R, Stievenart J L, Iba-Zizen M T, Cabanis E A
Service de Neuroradiologie et d'lRM, Hôtel-Dieu de France, Université Saint-Joseph de Beyrouth, Paris.
Ann Genet. 1993;36(2):75-87.
The authors present the results of a morphometric study of the brain of 7 patients with cat cry syndrome, explored with Magnetic Resonance Imaging (MRI). A method is proposed in order to facilitate the identification of the anatomical slices. A characteristic anomaly is observed as a marked atrophy of the brainstem predominating at the pontine level and associated with a small cerebellum, atrophic middle cerebellar peduncles and cerebellar white matter. This apparently systematized atrophy obvious in children, seems similar to the one observed in patients presenting a olivopontocerebellar atrophy, possibly correlating with disturbance of coordination and developmental delay in motility as observed in these patients. This does not implicate the same subjacent functional neuroanatomical pathways.
作者展示了对7例猫叫综合征患者大脑进行形态测量研究的结果，这些研究通过磁共振成像（MRI）进行。为便于识别解剖切片，提出了一种方法。观察到一个特征性异常，即脑干明显萎缩，以脑桥水平为主，并伴有小脑小、小脑中间脚萎缩和小脑白质萎缩。这种在儿童中明显的系统性萎缩，似乎与橄榄脑桥小脑萎缩患者中观察到的萎缩相似，可能与这些患者中观察到的协调障碍和运动发育迟缓相关。这并不涉及相同的潜在功能性神经解剖通路。
