Abstracts

Rationale: Roberts syndrome is a rare autosomal recessive disorder characterized clinically by microcephaly, mental retardation, tetraphocomelia and craniofacial anomalies of varying severity. Karyotype reveals heterochromatic splaying. Roberts SC phocomelia (SC) is a milder phenotype, with milder phocomelia, cloudy corneas and survival to adulthood. Epilepsy has not been previously reported. Methods: To increased care giver awareness about the epilepsy in SC, records of a patient with 2 different pathogenic point mutations in the sequence of each ESCO2 gene were retrospectively reviewed. Results: The proband was term, microcephalic, low birth weight and blind with microphthalmia and corneal clouding. Developmental milestones were markedly delayed with poor balance and delayed speech. Partial complex seizures started at age 6 years of age (YO). Seizures have been refractory to all anticonvulsants including divalproex, phenobarbital, pentobarbital, lorazepam, clonazepam, topiramate, oxcarbazepine, phenytoin and zonisamide. The seizures have waxed and waned over the years, becoming secondary generalized after 19 YO. Vagal nerve stimulator was ineffective. Felbatol reduced the seizure frequency to one per month. At 31 YO, brain MRI showed a static diffuse encephalopathy (involving corpus callosum, basal ganglia, brainstem and cerebellum) with numerous small infarct-like lesions in white and gray matter, with relative sparing of the cerebral cortex. Conclusions: SC is a rare cause of intractable epilepsy. We postulate that the epilepsy is caused by an early onset diffuse encephalopathy due to a segregation defects of chromosomes as seen in primordial dwarfism.