PMID- 26126836 OWN - NLM STAT- MEDLINE DCOM- 20161005 LR - 20161230 IS - 1872-7131 (Electronic) IS - 0387-7604 (Linking) VI - 38 IP - 1 DP - 2016 Jan TI - Narcolepsy in a three-year-old girl: A case report. PG - 139-41 LID - S0387-7604(15)00126-6 [pii] LID - 10.1016/j.braindev.2015.06.003 [doi] AB - 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. CI - Copyright (c) 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. FAU - Park, Eu Gene AU - Park EG AD - Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. FAU - Lee, Jiwon AU - Lee J AD - Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. FAU - Joo, Eun Yeon AU - Joo EY AD - Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. FAU - Lee, Munhyang AU - Lee M AD - Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. FAU - Lee, Jeehun AU - Lee J AD - Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address: jhlee0101@skku.edu. LA - eng PT - Case Reports PT - Journal Article DEP - 20150628 PL - Netherlands TA - Brain Dev JT - Brain & development JID - 7909235 SB - IM MH - Brain/physiopathology MH - Child, Preschool MH - Diagnosis, Differential MH - Electroencephalography MH - Female MH - Follow-Up Studies MH - Humans MH - Narcolepsy/*diagnosis/genetics/*physiopathology/therapy OTO - NOTNLM OT - Cataplexy OT - Narcolepsy OT - Toddler EDAT- 2015/07/02 06:00 MHDA- 2016/10/07 06:00 CRDT- 2015/07/02 06:00 PHST- 2015/02/20 00:00 [received] PHST- 2015/06/06 00:00 [revised] PHST- 2015/06/22 00:00 [accepted] PHST- 2015/07/02 06:00 [entrez] PHST- 2015/07/02 06:00 [pubmed] PHST- 2016/10/07 06:00 [medline] AID - S0387-7604(15)00126-6 [pii] AID - 10.1016/j.braindev.2015.06.003 [doi] PST - ppublish SO - Brain Dev. 2016 Jan;38(1):139-41. doi: 10.1016/j.braindev.2015.06.003. Epub 2015 Jun 28.