A 15-week-old male was seen in a Neurology clinic with microcephaly, bilateral cataracts, focal seizures. Past medical history was significant for schizencephaly discovered on fetal MRI (see image), delivery at 34 weeks GA. Rest of pregnancy was unremarkable. Family history was significant for a prior spontaneous abortion of sibling and father with epilepsy in childhood. A cerebral palsy spectrum disorders genetic panel was sent and revealed a pathogenic mutation in COL4A1 gene.
