Ahmed and Al-Kusaiby (1996) reported a rare association of myoclonic seizures with visual impairment in two Omani male infants with agenesis of corpus callosum. There was no evidence of hypothalamic-pituitary dysfunction on endocrinolgical workup in both patients. The first was a male baby (four and a half-months of age) born to consanguineous parents and presented with myocolnic seizures, especially in the morning, accompanied by a shrill cry. He had a microcephalic head and was hypotonic with head lag. Examination of the eyes revealed intermittent nystagmus, poor visual perception to light along with bilateral diminished pupillary light reflex and optic nerve hypoplasia (small pale optic discs on fundoscopy). CT brain showed partial agenesis of corpus callosum with fusion of both lateral ventricles and mild cortical atrophy. There was absent visual response in both eyes in the visual evoked potential (VEP) study confirming the visual impairment. EEG showed the hypsarrythmic pattern of myoclonus of infancy. The other baby (eight-months old) presented with developmental delay, poor vision since birth, along with attacks of generalized jerkiness of the head and trunk with flexion of the limbs. Like the first case, he had poor pupillary light reflex along with pale optic discs, partial agenesis of corpus callosum on CT brain, absent response in VEP study, even on pattern reversal, and the EEG showed hypsarrythmic pattern with burst suppression. In both cases, the seizures were controlled with the help of anticovulsants.

[Ahmed SR, Al-Kusaiby SM. Agenesis of corpus callosum with myoclonus. Oman Med J. 1996; 13(2):38-9.]