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Cerebellar vermis hypoplasia in a case of cri-du-chat syndrome
G De Michele1, M Presta, F Di Salle
1Department of Neurology, School of Medicine, Federico II. University, Naples, Italy.
Insights
A child with cri-du-chat syndrome showed cerebellar vermis hypoplasia and corpus callosum dysgenesis. This is the first report linking these brain malformations to chromosome 5p deletion syndrome.
Area of Science:
- Genetics
- Neurology
- Developmental Biology
Background:
- Cri-du-chat syndrome is a genetic disorder caused by a deletion on the short arm of chromosome 5.
- The syndrome is characterized by a range of developmental and intellectual disabilities.
- Neurological and brain abnormalities are common, but specific malformations are not fully characterized.
Observation:
- A 6-year-old child presented with the typical phenotype of cri-du-chat syndrome.
- Caryotype analysis confirmed an interstitial deletion of the short arm of chromosome 5 (del(5p)).
- Neurological examination revealed mental retardation, behavioral issues, and signs of cerebellar and cortico-spinal impairment.
Findings:
- Brain MRI demonstrated cerebellar vermis hypoplasia.
- The MRI also revealed dysgenesis of the corpus callosum.
- This represents the first documented instance of vermian hypoplasia in a patient with cri-du-chat syndrome.
Implications:
- The findings suggest a potential link between chromosome 5p deletions and midline brain malformations.
- Cerebellar vermis hypoplasia and corpus callosum dysgenesis may be underrecognized features of cri-du-chat syndrome.
- Midline dysraphia is proposed as the likely pathogenesis for these observed brain abnormalities.
Abstract:
We describe a 6-year-old child who presented the phenotype of cri-du-chat disease. The study of her caryotype confirmed an interstitial deletion of the short arm of chromosome 5. The neurological examination showed mental retardation, behavioral disturbances and features of cerebellar and cortico-spinal impairment. The MRI scan of the brain showed hypoplasia of the vermis associated with dysgenesia of the corpus callosum. This is the first report of vermian hypoplasia in cri-du-chat disease. We suggest that the most likely pathogenesis of this malformation is a midline dysraphia.