Narcolepsy in a three-year-old girl: A case report
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Published on: September 20, 2024
Eu Gene Park1, Jiwon Lee1, Eun Yeon Joo2
1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Insights
Early recognition of narcolepsy in children is crucial. This case highlights narcolepsy with cataplexy in a three-year-old, emphasizing the importance of polysomnography and MSLT for diagnosis.
Area of Science:
- Neurology
- Sleep Medicine
Background:
- Narcolepsy, a chronic neurological disorder, presents with excessive daytime sleepiness, sleep paralysis, hallucinations, and cataplexy.
- Early diagnosis in pediatric cases is vital for proper growth and development.
Observation:
- A three-year-old girl exhibited symptoms suggestive of narcolepsy.
- Diagnostic evaluations included brain MRI, 24-hour video-EEG, polysomnography (PSG) with multiple sleep latency test (MSLT), and HLA DQ typing.
Findings:
- Brain MRI results were normal.
- 24-hour video-EEG showed no epileptiform discharges and no changes during cataplexy events.
- PSG with MSLT revealed a mean sleep latency of 2.5 minutes and four sleep-onset REM periods, with positive HLA-DQB1*0602 typing.
Implications:
- The combination of clinical history, PSG, and MSLT facilitated the diagnosis of narcolepsy with cataplexy.
- This case underscores the presentation of early-onset narcolepsy with excessive sleepiness and cataplexy in young children.
Objective:
Narcolepsy is characterized by excessive daytime somnolence associated with sleep paralysis, hallucinations when falling asleep or awakening, and cataplexy. Early recognition of pediatric narcolepsy is essential for growth and development. We experienced a case of narcolepsy in a three-year-old girl.
Methods:
The patient underwent brain MRI and 24h video-electroencephalogram (EEG) monitoring. Polysomnography (PSG) with multiple sleep latency test (MSLT) and human leukocyte antigen (HLA) DQ typing was performed.
Results:
The brain MRI was normal. 24h video-EEG monitoring revealed no abnormal slow or epileptiform discharge on interictal EEG, and no EEG change during tongue thrusting, dropping head with laughter, or flopping down, which was consistent with cataplexy associated with narcolepsy. A mean sleep latency of 2.5 min and four episodes of sleep-onset REM periods in five naps were observed in PSG with MSLT. She was positive in HLA-DQB1*0602. Based on these findings, she was diagnosed as narcoleptic with cataplexy.
Conclusion:
The history, combined with PSG and MSLT, was helpful in the diagnosis of narcolepsy. We report a case of early-onset narcolepsy presenting with excessive sleepiness and cataplexy.
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