To evaluate the features and maturational changes in overall callosal shape in patients with pyridoxine-dependent epilepsy (PDE).

Measurements were conducted through landmark-based geometric morphometrics applied on cerebral MRIs of patients with PDE and age-matched control subjects. The outline of the corpus callosum was manually traced in the midsagittal plane. Three hundred semi-landmarks along the outline were collected and underwent statistical generalized Procrustes analysis. An allometric regression was applied to evaluate the callosal shape due to growth over time.

Thirty-eight patients with PDE and 38 age- and sex-matched control subjects were included. Mean age at the time of the MRI in the patient group was 9.3 years (median 6.3 years, range 0.01–48 years). Significant differences (p < 0.01) in the mean callosal shape between patients and controls were found. The allometric regression model revealed significant shape variations (p < 0.01) between the 2 study groups across the developmental course after controlling for the effect of callosal size on shape. This latter effect turned out to be significant as well (p < 0.001).

Patients with PDE show an altered callosal shape and variations in callosal ontogeny, which are likely secondary to the underlying genetic defect with abnormal function of antiquitin, the product of the ALDH7A1 gene.