831 Diagnostic and Treatment Challenges in a Child with Type 1 Narcolepsy

Abstract

Abstract Introduction The diagnosis and management of Narcolepsy can be challenging in young children. We present a case of abrupt onset severe type 1 narcolepsy complicated by tactile hallucinations with stimulant medication therapy. Report of case(s) A previously healthy 7-year-old African American female presented to us at the beginning of the current pandemic with one week of excessive daytime sleepiness (EDS) with associated enuresis, hyperphagia and two episodes of cataplexy. She also presented with hypnagogic hallucinations and dream enactment behaviors. She was extremely sleepy with a score of 24/24 on the Epworth Sleepiness Scale. Her neurological exam was negative except for facial twitching appearing to be cataplectic facies. Extensive work up including urine toxicology, serology and cerebrospinal fluid (CSF) tests were undertaken to rule out infectious and demyelinating conditions; the results of these tests were negative. Brain magnetic resonance imaging as well as electroencephalogram testing were unremarkable. Overnight polysomnography demonstrated short sleep latency and rapid eye movement (REM) sleep without atonia and a multiple sleep latency test showed a mean sleep latency of less than 2 minutes and 4/4 sleep onset REM periods, highly suggestive of narcolepsy. Her HLA DQB1*0602 haplotype was positive but CSF Hypocretin testing was not done. She was given a diagnosis of Narcolepsy type I and started treatment on low dose Methylphenidate and Venlafaxine to address her EDS and cataplexy, respectively. Her EDS was gradually controlled with a higher dose of Methylphenidate but she developed severe tactile hallucinations. She complained of feeling bugs crawling under her skin and could not keep her clothes on due to constant discomfort. The tactile hallucinations improved with discontinuation of methylphenidate but reappeared with introduction of a different class of stimulants. Modafinil was ineffective in controlling her EDS symptoms. Her EDS, cataplexy and enuresis were better controlled after starting her on Sodium Oxybate. She continues to suffer from moderate to severe EDS with optimally dosed Sodium Oxybate with suboptimal response to various typical and atypical stimulants. Conclusion This case illustrates the difficulties in diagnosing and treating pediatric narcolepsy patients and a unique challenge of tactile hallucinations with stimulant medications. Support (if any):