Brain morphometry using MRI in Cri-du-Chat Syndrome. Report of seven cases with review of the literature
Tamraz, J.; Rethoré, M.O.; Lejeune, J.; Outin, C.; Goepel, R.; Stievenart, J.L.; Iba-Zizen, M.T.; Cabanis, E.A.
Annales de Genetique 36(2): 75-87
1993
ISSN/ISBN: 0003-3995 PMID: 8215223 Document Number: 409850
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.