Comparison of cranial magnetic resonance findings and clinical features in patients with corpus callosum abnormalities

Aim: The aim of this study is to evaluate the relationship between clinical findings and cranial magnetic resonance imaging findings in patients with corpus callosum abnormalities.Material-Method: Between September 2010 - March 2012, patients in whom developmental corpus callosum abnormalities were detected in Dokuz Eylul University Hospital, Department of Pediatrics, Division of Pediatric Neurology were included in the study. Patienst were classified as total agenesis, partial agenesis and hypoplasia according to the type of developmental corpus callosum abnormalities. Regarding the groups, the association between radiological abnormalities and clinical findings were evaluated.Results: A total of 62 patients (32 female (51.6%) and 30 (48.4%) male) with a mean age of 18.0±32.1 months were enrolled in the study. Twenty patients (32.3%) had total agenesis, 9 patients (14.5%) had partial agenesis and 33 (53.2%) patients had hypoplasia of the corpus callosum. 17/62 (27.4%) of the patients had a specific disease associated with developmental abnormalities of the corpus callosum (Charge syndrome in 3 cases, Aicardi syndrome in 2 cases, nonketotic hyperglycinemia in 2 cases and each of the other patients with Wolf Hirschhorn syndrome, Marden Walker syndrome, PHACE syndrome, fasio-cardio-renal syndrome, Di George syndrome, West syndrome, Joubert syndrome, 2-ketoglutaric acid deficiency, Tay Sachs disease and Osteodysplastic primordial dwarfism). Thirty five (56.7%) cases had abnormal physical examination, 47 (75.8%) cases had abnormal neurological examination, 42 (67.7%) cases had psychomotor retardation, and 50 (80.6%) cases had a history of psychomotor retardation. There were not significant differences among groups regarding physical examination, history of growth retardation, psychomotor retardation, seizures or microcephaly. Neurological examination abnormalities were more frequent in hypoplasia group. 13/20 (65%) of the cases in the total agenesis group, 7/9 (77.8%) of the cases in the partial agenesis group and 27/33 (81.8%) of the cases in the hypoplasia group had other associated radiological abnormalities. Seizures, history of psychomotor retardation and neurological abnormalities were significantly more frequent in patients with associated other radiological abnormalities. When we investigated the relationship between the thickness of the corpus callosum and clinical findings, there was no significant difference between cases with and without seizures. Posterior segment of the corpus callosum was significantly thinner in patients with psychomotor retardation and / or had a history of growth retardation. The anterior part of the corpus callosum thinner in patients with abnormal physical examination. All three parts of the corpus callosum were thinner in patients with abnormal neurologic examination. A total of 33/62 (53.2%) patients developed seizures during follow up. It was determined that seizures were developed in 53.2% of the cases during the follow-up. Patients with total agenesis were more prone to seizures at an early age than patients with partial agenesis or hypoplasia. Seizure type, seizure frequency, antiepileptic drug response, and electroencephalographic findings did not differ between the groups.Conclusion: Neurogenetic syndromes and associated neuroradiological abnormalities should be investigated in patients with corpus callosum abnormalities. The neurological prognosis is poorer in patients with an associated neuroradiological abnormality. Measurement of different parts of corpus callosum at diagnosis should provide important clues in the development of psychomotor retardation and abnormal physical examination findings. Patients with total agenesis of corpus callosum should be followed up for early development of seizures.