Clinical Characteristics and Aetiology of Corpus Callosum Abnormalities: A single Centre Experience in Saudi Arabia.

Background:Corpus callosum abnormalities (CCA) is among the most common brain malformations observed in humans.It can be isolated or included in a complex alteration of brain morphology.Objective:To determine the causes, clinical and radiological profiles of corpus callosum abnormalities (CCA) in children presenting with neuropsychatric disorder. Method: This is a retrospective chart review study of all children with CCA presented to a tertiary university center in Saudi Arabia from January 2006 to December 2015. Results: Sixty-two patients with CCA were identified. Twenty-seven with perinatal injury were excluded.The remaining 35 patients were 19 females and 16 males’ patients with CCA.Patients’ age ranged between 2 and 16 years.They were classified into: GroupA,Complete agenesis of corpus callosum (ACC),20(57.2%);GroupB,Partial ACC,6(17.2%);GroupC, Hypoplastic CC 9 (25.7%). Consanguineous marriage was noted in 13 patients, and out of those 5 had evidence of familial ACC where two sibs were affected in the same family.Sixteen (45.7%) patients had microcephaly.Thirteen(37.1%) were dysmorphic ,17(48.6%) had coexisting epilepsy.Nineteen (54.3 %)had a cerebral palsy variant.Investigations revealed an etiology in12 (34.3%):3 chromosomal abnormality, 3metabolic disorders,and 6 genetic syndromes.Associated CNS abnormalities were found in16 patients with cerebral dysgenesis . Such abnormalities were more common in the complete (ACC) group. Associated extracranial abnormalities; include 8 cardiac, and 9 ophthalmological abnormalities. Prognosis varied between mild developmental delay in 9 (25.7 %),and moderate -severe developmental delay in 26(74.3%),in addition to comorbid conditions as ADHD, and autism in1,2 patients,respectively.In conclusion,the etiology of CCA in this cohort was mainly part of developmental brain dysgenesis ,or secondary to genetic /metabolic causes.