Neurocutaneous Syndromes and the Neural Crest

J Gordon Millichap
2006 Pediatric Neurology Briefs  
The clinical and genetic characteristics of 63 patients with agenesis of the corpus callosum (ACC) are reported from the Scientific Institute "E Medea," Italy. Of 1753 patients admitted (1998)(1999)(2000)(2001) and having neuroimaging, 63 (3.5%) showed ACC. Mean age was 2 years 7 months (range 1-25 yrs); 39 were male and 24 female. Thirty patients (47%) had complete ACC and 33 (53%) partial agenesis. Associated nervous system malformations were found in 10 (33%) patients with complete ACC
more » ... ly affecting the cortex) and in 14 (42%) with partial ACC (involving the posterior fossa). Non-CNS malformations, including craniofacial, cardiac and skeletal, were present in 41 (65%) patients; 21 (33%) with known syndromes (eg Aicardi (2), Sotos (3), tuberous sclerosis (1)). Seven patients had chromosomal abnormalities, and 3 had subtelomeric rearrangements. Mental retardation was present in 52 (83%), neuromotor inpairment in 58 (92%), and epilepsy (35%). ACC is manifested by a broad range of clinical manifestations. (Bedeschi MF, Bonaglia MC, Grasso R, et al. Agenesis of the corpus callosum: clinical and genetic study in 63 young patients.
doi:10.15844/pedneurbriefs-20-4-10 fatcat:u2mecjjgqjg5bfqfwm6bbadzzy