Abstracts

Rationale: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare condition that belongs to a family of PTEN hamartoma tumor syndromes (PHTS). BRRS is characterized by macrocephaly, hamartomas that commonly originate in the intestine, lipomas and pigmented freckling on the penis in males. It has been associated with epilepsy, but usually as result of hamartomas or hemorrhages from venous malformations. We present a patient diagnosed with Bannayan-Riley-Ruvalcaba syndrome after being misdiagnosed at age 12 with Soto syndrome. Methods: Case Report Results: The patient presented with drop attacks and loss of consciousness at the age of 15. He was noted to have macrocephaly, motor and development delay, and behavioral disturbances (ADHD), and was initially diagnosed with Soto's syndrome despite negative genetic testing. Additionally he was noted to have an intermittent rash on arms, legs, and trunk. He continued to suffer from medication resistant epilepsy. 3T brain MRI was unremarkable. Intensive video EEG showed generalized spike and wave complexes in conjunction with independent left and right spike and wave complexes. Additionally, the continuous EEG showed nonepileptic events. At age 21, he was re-evaluated by a neuro-geneticist and found to be PTEN gene positive. Based on clinical history and genetic testing, he was diagnosed with BRRS. Conclusions: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare disease that is sometimes associated with epilepsy, however it is commonly associated with brain abnormalities that we did not see in our patient's imaging. The absence of radiographic evidence in etiology of our patient's seizures leaves us to question whether BRRS carries an association with an unknown epilepsy syndrome. Another unique feature of our case is that our patient had nonepileptic events. To our knowledge no psychosomatic features such as nonepileptic seizures have been reported in association with BRRS. Funding: None