830 Combined Phototherapy and Melatonin for treatment of Circadian Rhythm Disorder in a Patient with Cornelia de Lange Syndrome

Abstract

\n \n \n Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by variable physical, cognitive, and behavioral characteristics. Sleep disturbances have been frequently reported in CdLS including insomnia, sleep-disordered breathing, intrinsic sleep disorders, and circadian rhythm disorders (CRDs). The characterization and prevalence of CRDs in CdLS remain ill- defined. We report a case of a 13-year-old female with CdLS presenting with advanced sleep wake phase disorder (ASWPD).\n \n \n \n A 13-year-old female with a past medical history of CdLS, developmental delay, bilateral cleft palate status post repair presents with inability to fall asleep at night and excessive daytime sleepiness.(EDS) Her sleep history consists of going to bed at 4 pm with no delayed sleep onset. She wakes at 2:30 am which has occurred since infancy. Mother reports the patient will remain awake from 2:30 am until she goes to school at 7:30 am. History is consistent with EDS and sleeping during the day while at school. Total sleep time of approximately 11–12 hours was reported in 24-hour period. History of obstructive sleep apnea, parasomnias, insomnia, restless leg syndrome, and psychotropic medications were not reported. Patient was treated with timed low dose melatonin therapy 0.5 mg at 4 pm and bright light therapy using 10,000 lux for 30 minutes at 7 am and 4 pm. Dim lights starting at 7:30 pm with structured scheduled sleep hygiene ensuring consistent bedtime at 9:30 pm. A consistent wake time at 7 am and no naps during the day was recommended. Follow up visits report successful response to therapy with attainment of desired sleep wake rhythm (bedtime at 9:30 pm and wake time at 7 am) and resolution of sleepiness during the day. Our patient was able to be weaned off of melatonin and light therapy and her circadian rhythm remained entrained.\n \n \n \n Patients with disorder such as CdLS are at risk for circadian rhythm disorders. Our patient responded well to treatment with combined timed phototherapy and low dose melatonin therapy. Better knowledge and characterization of typology of CRDs in CdLS patients could permit a more specific therapeutic approach to sleep disorders in this population.\n \n \n \n None\n