1210 Excessive daytime sleepiness in a child with trisomy 21; it’s not always apnea. A case of trisomy 21 with comorbid narcolepsy

• Published in: Sleep (New York, N.Y.) N.Y.), 2017-04, Vol.40 (suppl_1), p.A452-A452
• Main Authors: Huntley, C, Strang, A, Chidekel, A
• Format: Article
• Language: English
• Subjects: Comorbidity; Sleep apnea; Sleep deprivation; Sleep disorders
• ISSN: 0161-8105; 1550-9109
• DOI: 10.1093/sleepj/zsx052.000

Abstract Introduction: Given the predilection for increased rates of obesity and the generalized hypotonia seen in patients with trisomy 21, there is an increased rate of obstructive sleep apnea (OSA) compared to healthy controls.1–3 However, OSA is not the only comorbid sleep disorder that can lead to daytime sleepiness and a thorough sleep evaluation must be undertaken.4 Report of Case: A 13 yof, with a history of trisomy 21, presented to the pediatric sleep clinic in 2014 with snoring, possible apnea, and excessive daytime somnolence. An increased sleep time and reinstitution of daytime naps was also noted two years prior to presentation. There was no cataplexy, sleep paralysis, or hypnagogic/hypnopompic hallucinations. Physical exam showed 3+ tonsils and a BMI of 26. A prior home sleep study, ordered by an outside physician, showed a REI of 8.4, ODI of 1, and O2 nadir of 94%. She underwent a polysomnogram (PSG) and multiple sleep latency test (MSLT). The PSG showed an overall AHI of 4, a hypopnea index of 3.1, and an obstructive apnea index of 0.67. The MSLT showed a mean sleep latency of 4:37 and three sleep onset REM periods. The HLA DQB1 06:02 was positive. She was diagnosed with mild obstructive sleep apnea which was positionally dependent and narcolepsy without cataplexy. She was started on positional therapy and modafinil, 100mg each morning. After institution of therapy the patient and family noted a drastic improvement in daytime sleepiness, improved school performance, and increased levels of physical activity. The Epworth sleepiness score was 8 after treatment. Conclusion: Obstructive sleep apnea is the most common comorbid sleep disorder associated with Trisomy 21 and can result in daytime symptoms.4 However, daytime somnolence can be caused by other disorders and narcolepsy needs to be maintained within the differential diagnosis. This represents the first case describing trisomy 21 with comorbid narcolepsy.