Syndromic agenesis of the corpus callosum

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.

Autorentext

Dra. Imene BOUJELBENEMédico especialista en genética médicaDoble titular de másteres de investigación en "Biotecnología en Ciencias Médicas" (Universidad de Sfax) y en "Fisiopatología de la Molécula al Hombre" (Universidad de Estrasburgo), con reconocida experiencia en diagnóstico y asesoramiento genéticos.