Syndromic agenesis of the corpus callosum

By Imene Boujelbene

Agenesis of the corpus callosum (ACC) is the most common cerebral malformation, with a prevalence ranging from 1.4 to 2.5 per 10,000 live births. It may be complete or partial, isolated or associated with other malformations (cerebral or extra-cerebral malformations). Its clinical expression varies from asymptomatic forms, where CCA is discovered by chance, to syndromic forms with severe intellectual disability.This is a descriptive, retrospective study of patients with syndromic ACC, collected over a 16-year period in the Congenital and Hereditary Diseases Department at Charles Nicolle Hospital, Tunis, Tunisia.We collected 47 cases of ACC referred mainly for developmental delay. CCA was complete in 64% of cases and partial in 36%. Callous agenesis was associated with other encephalic anomaly(ies) in 57% of cases. The clinical study made it possible to orientate the diagnosis in around 40% of patients, enabling appropriate genetic counselling to be given to couples, both in terms of prognosis and risk of recurrence.

• Format: Paperback
• Language: English
• ISBN: 620814535X
• ISBN13: 9786208145354
• Release Date: September 2024
• Publisher: Our Knowledge Publishing
• Length: 116 Pages
• Weight: 0.40 lbs.
• Dimensions: 0.3" x 6.0" x 9.0"