ALTE in the setting of genetic disease NOS. Dysmorphic features (iris colobomas, somewhat low left ear, smooth philtrum), an undescended testicle. There is an apparent punctate focus of restricted diffusion in the left anterior corpus callosum. There is no evidence of intracranial hemorrhage or mass. There appears to be paucity of myelination, particularly in the peri-rolandic region. The ventricles and basal cisterns are normal in size and configuration. There is no midline shift or herniation. The vein of Galen appears prominent and displays high T1 signal. The major cerebral flow voids are otherwise intact. The skull, paranasal sinuses, and scalp soft tissues are grossly unremarkable. There is deformity of the right lens and posterior globe at the optic nerve head.
1. Apparent acute punctate infarct in the left anterior corpus callosum.2. The vein of Galen appears prominent and displays high T1 signal, which may be an artifact of slow flow, although thrombosis cannot be entirely excluded. A Doppler ultrasound may be useful for further evaluation. 3. Suggestion of delayed myelination.4. Deformity of the right lens and posterior globe are likely related to coloboma.