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03 November 2026 : Case report  China

[In Press] Late-Onset Narcolepsy Type 1 With Inconclusive Sleep Studies: A Case Report

Unusual clinical course, Challenging differential diagnosis, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)

Feihong Chen ORCID logo1ABCDEF, Yanuo Xun1ABDF, Gang Yin1B, Xu Han1E, Xia Liu1AEF

DOI: 10.12659/AJCR.955007

Am J Case Rep In Press; DOI: 10.12659/AJCR.955007  

Available online: 2026-11-03, In Press, Corrected Proof

Publication in the "In-Press" formula aims at speeding up the public availability of the pending manuscript while waiting for the final publication. The assigned DOI number is active and citable. The availability of the article in the Medline, PubMed and PMC databases as well as Web of Science will be obtained after the final publication according to the journal schedule

Abstract

BACKGROUND
Narcolepsy type 1 (NT1) is characterized by excessive daytime sleepiness, cataplexy, and cerebrospinal fluid (CSF) hypocretin-1 deficiency. Although typically occurring in younger individuals, late-onset NT1 can present with diagnostic challenges, particularly when symptoms overlap with psychiatric, neurological, or sleep-related disorders.
CASE REPORT
We report a case of a 60-year-old man with recurrent emotion-triggered muscle weakness and progressive excessive daytime sleepiness. The patient had been treated for 6 years under a diagnosis of dissociative (conversion) disorder. The weakness episodes were clinically compatible with cataplexy, as they were emotion-triggered and occurred with preserved awareness. Two polysomnography and multiple sleep latency testing evaluations demonstrated pathological sleepiness but did not meet the conventional sleep-onset rapid eye movement period (SOREMP) criterion for narcolepsy. Interpretation was complicated by moderate-to-severe obstructive sleep apnea, fragmented sleep, previous psychotropic medication exposure, and cerebral ischemic changes. CSF hypocretin-1 concentration was markedly reduced (12.08 pg/mL), confirming the diagnosis of NT1. Treatment with clomipramine and pitolisant improved daytime sleepiness and cataplexy-like episodes, with the Epworth Sleepiness Scale score decreasing from 24 at admission to 9 after 4 months of follow-up.
CONCLUSIONS
Late-onset NT1 should be considered in older adults presenting with progressive excessive daytime sleepiness and emotion-triggered weakness, even when conventional sleep studies are inconclusive. CSF hypocretin-1 measurement can provide important diagnostic evidence, while atypical neurological manifestations should be evaluated separately for alternative or coexisting disorders.

Keywords: Cataplexy; Narcolepsy

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923