0986 The Kid Who Slept in Detention: Delayed Narcolepsy Type II Diagnosis

SLEEP(2023)

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摘要
Abstract Introduction Narcolepsy is a sparsely found disease with a prevalence of 0.02-0.07% worldwide. Most patients are diagnosed much later than symptom onset with a gap of several years to even decades. The inability to diagnose and lack of awareness of narcolepsy leads to poor quality of life for the patient and family, poor school performance, and increased medical and socioeconomic burden. Hence, we report a case of a child inflicted with these woes looking for an improved quality of life. Report of case(s) A 12-year-old boy with past medical history of mild intermittent asthma, tonsillectomy, and adenoidectomy, initially presented to Allergy-Immunology for asthma management where it was revealed he was dealing with snoring and excessive daytime sleepiness since age 9. Patient was sent for Polysomnography (PSG) which revealed an Apnea Hypopnea Index (AHI) of 0.4 and Oxygen Nadir of 91%. Patient was referred to Pediatric ENT for evaluation, but further surgical intervention was not indicated. Patient continued to deal with excessive daytime sleepiness (Epworth Sleepiness Scale of 20/24) and multiple detention visits due to sleeping in class. Mother was distressed from daily conversations with school officials. Patient was referred to Sleep Medicine and found to have no cataplexy episodes, episodic symptoms, hypersexuality, or hyperphagia. Multiple Sleep Latency Test (MSLT) was ordered. Patient’s PSG night prior to MSLT revealed an AHI of 0.8 and Oxygen Nadir of 91%. Urine Drug Screen prior to MSLT was negative. MSLT revealed 2 naps demonstrating Sleep-Onset REM Periods and average mean sleep latency of 5 minutes. Patient was started on Methylphenidate ER 10mg with increase in alertness. Further treatment modification and workup is ongoing. Conclusion Our patient experienced a delay in diagnosis of nearly three years. The patient dealt with multiple detention visits and the mother experienced harassment from the school. Increasing awareness in the school system and patient population is necessary to mitigate prejudice against the pediatric narcolepsy population. Furthermore, increased research into new biomarkers and technologies for Narcolepsy type symptoms will be critical to decreasing the gap in diagnosis. Support (if any)
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detention,diagnosis
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