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Late Diagnosis of Narcolepsy With Cataplexy: A Novel Case of Cataplectic Facies Presenting in an Elderly Woman.

ABSTRACT: None:Cataplectic facies is an unusual feature described in children with narcolepsy and cataplexy. The typical manifestations of cataplectic facies consist of repetitive mouth opening, tongue protrusion, and ptosis. An interesting observation is that the usual emotional triggers associated with cataplexy such as laughter and joking are not always present, thus hampering diagnosis of the underlying syndrome. Cataplectic facies is thought to be a phenomenon observed in the early stages of narcolepsy type 1 and is thought to disappear by the time the patient reaches puberty. We present a unique case of an elderly woman with narcolepsy type 1 demonstrating cataplectic facies. The novel circumstances of this case highlight that facial cataplexy can present later in life, in contrast with previous descriptions that report resolution of cataplectic facies before puberty. Wider recognition of these features throughout the life course may aid in accurate diagnosis and thereby ensure swift access to appropriate treatment.

SUBMITTER: Khalsa S

PROVIDER: S-EPMC6853393 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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Late Diagnosis of Narcolepsy With Cataplexy: A Novel Case of Cataplectic Facies Presenting in an Elderly Woman.

Khalsa Sakh S Qureshi Kasim K Bagshaw Andrew P AP Rather Amir A

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 20191101 11

<h4>None</h4>Cataplectic facies is an unusual feature described in children with narcolepsy and cataplexy. The typical manifestations of cataplectic facies consist of repetitive mouth opening, tongue protrusion, and ptosis. An interesting observation is that the usual emotional triggers associated with cataplexy such as laughter and joking are not always present, thus hampering diagnosis of the underlying syndrome. Cataplectic facies is thought to be a phenomenon observed in the early stages of ...[more]

PMID: 31739861

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Project description:To compare clinical, electrophysiologic, and biologic data in narcolepsy without cataplexy with low (? 110 pg/ml), intermediate (110-200 pg/ml), and normal (> 200 pg/ml) concentrations of cerebrospinal fluid (CSF) hypocretin-1.University-based sleep clinics and laboratories.Narcolepsy without cataplexy (n = 171) and control patients (n = 170), all with available CSF hypocretin-1.Retrospective comparison and receiver operating characteristics curve analysis. Patients were also recontacted to evaluate if they developed cataplexy by survival curve analysis.The optimal cutoff of CSF hypocretin-1 for narcolepsy without cataplexy diagnosis was 200 pg/ml rather than 110 pg/ml (sensitivity 33%, specificity 99%). Forty-one patients (24%), all HLA DQB1*06:02 positive, had low concentrations (? 110 pg/ml) of CSF hypocretin-1. Patients with low concentrations of hypocretin-1 only differed subjectively from other groups by a higher Epworth Sleepiness Scale score and more frequent sleep paralysis. Compared with patients with normal hypocretin-1 concentration (n = 117, 68%), those with low hypocretin-1 concentration had higher HLA DQB1*06:02 frequencies, were more frequently non-Caucasians (notably African Americans), with lower age of onset, and longer duration of illness. They also had more frequently short rapid-eye movement (REM) sleep latency (? 15 min) during polysomnography (64% versus 23%), and shorter sleep latencies (2.7 ± 0.3 versus 4.4 ± 0.2 min) and more sleep-onset REM periods (3.6 ± 0.1 versus 2.9 ± 0.1 min) during the Multiple Sleep Latency Test (MSLT). Patients with intermediate concentrations of CSF hypocretin-1 (n = 13, 8%) had intermediate HLA DQB1*06:02 and polysomnography results, suggesting heterogeneity. Of the 127 patients we were able to recontact, survival analysis showed that almost half (48%) with low concentration of CSF hypocretin-1 had developed typical cataplexy at 26 yr after onset, whereas only 2% had done so when CSF hypocretin-1 concentration was normal. Almost all patients (87%) still complained of daytime sleepiness independent of hypocretin status.Objective (HLA typing, MSLT, and sleep studies) more than subjective (sleepiness and sleep paralysis) features predicted low concentration of CSF hypocretin-1 in patients with narcolepsy without cataplexy.

Dataset Information

Late Diagnosis of Narcolepsy With Cataplexy: A Novel Case of Cataplectic Facies Presenting in an Elderly Woman.

Publications

Late Diagnosis of Narcolepsy With Cataplexy: A Novel Case of Cataplectic Facies Presenting in an Elderly Woman.

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