A clue in the diagnosis of Cri-du-chat syndrome: Pontine hypoplasia

Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations

“…Data emerging from our analysis allowed us to expand and to specify the neuroradiological phenotype of CdCS, confirming the presence, in the enrolled subjects, of the anomalies already described (hypoplasia of the brainstem and in particular of the pons, hypoplasia of the cerebellar vermis, increase of the basal angle and widening of the cavum sellae, dysmorphism or agenesis of the corpus callosum, dysmorphisms of the ventricles [38], and alterations of the white matter) [6][7][8][9][10][11][12][13][14][15][16][17][18][19]. Our data identified other features, such as polymicrogyria [reported only by Dmetrichuk et al,20] and hypoplasia of the optical nerves, which has never been reported.…”

“…On the other hand, the described cases in which neuroradiological characteristics are highlighted, are quite rare and no genotype-phenotype correlation has been proposed. Moreover, in the previously described cases (collected in the 1990s) [6,7] and in more recent case reports [7][8][9][10][11][12][13][14][15][16][17][18][19], the deletion of the short arm of chromosome 5 was identified mainly by classical cytogenetic analysis or, in one case, by FISH.…”

“…Thus, detailed information regarding type and frequency of brain anomalies is still limited. Case reports and the small case-series described by Tamraz et al, suggest that the most typical neuroimaging findings are brainstem hypoplasia, most predominantly in the pons with or without cerebellar (or vermian) hypoplasia, and cerebellar white matter atrophy [6][7][8][9][10][11][12][13][14][15][16][17][18][19]. Other reported brain anomalies are thinning (or dysgenesis) of the corpus callosum, Dandy-Walker malformation, middle cerebellar peduncles hypoplasia, dilated ventricles (lateral, fourth) cerebellar interhemispheric cyst, arachnoid cyst, reduced myelination in anterior limbs of the internal capsule and large cisterna magna [6-8, 10, 15, 17-19].…”

Lack of Myelination in the Anterior Limbs of the Internal Capsule Associated with Cri-du-Chat Syndrome: Case Report

“…The majority of reported cases have shown hypoplasia of the brain stem, mainly involving the pons, as an associated finding of cri-du-chat syndrome (3)(4)(5). Other findings included atrophic middle cerebellar peduncles, atrophic cerebellar white matter, cerebellar (or vermian) hypoplasia, thinning (or dysgenesis) of the corpus callosum, reduced myelination in anterior limbs of the internal capsule, and mega cisterna magna.…”

Brain MRI Findings of the Cri-Du-Chat Syndrome: A Case Report and Summary

“…묘성증후군은 널리 알려진 유전자 결손 증후군으로, 환아는 약 1:15000~1:50000의 비율로 태어나고 있다( 1 ). 드물고, 다양하고 광범위한 이상 소견을 동반하기 때문에 특징적인 영상소견은 자세히 알려져 있지 않았으나, 최근 묘성증후군 환아의 증례에서 뇌 자기공명영상 소견상 교뇌 저형성이 비교적 두드러지게 관찰된다고 보고되었다( 2 3 4 5 6 7 8 9 ). 이에 우리는 본원에서 유전자 검사를 통해 묘성증후군으로 확진된 환아의 증례 1개를 보고하는 한편, 이전에 보고된 증례들의 뇌 자기공명영상 소견을 정리하고 이와 비교해 보고자 한다.…”