0991 Dual Therapy to Treat Circadian Rhythm Disturbance in Unique Genetic Mutation of Smith-Magenis Syndrome

Abstract Introduction Smith-Magenis syndrome (SMS) is a rare disorder associated with several genetic mutations. Patients SMS experience circadian rhythm sleep-wake disorders, which may lead to significant behavioral concerns. A proposed etiology of sleep disturbances diurnal melatonin secretion. Treatment approaches aim at blocking the abnormal morning secretion and providing exogenous in evening. Report case(s) We present patient having persistent disturbance despite dual therapy beta-1 adrenergic antagonist over-the-counter night. Our switched mornings receptor agonist, tasimelteon, night improvement. In addition, our has mutations JAKMIP1 ZBTB18 genes. mutation novel setting clinical features SMS. Conclusion To authors’ knowledge, this first case report successful combination optimize treatment patients Support (if any)