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1.
Sleep Med ; 61: 118-121, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31427075

RESUMO

Cataplexy is a transient loss of muscle tone that can be triggered by emotions such as laughter, excitement or fear. Other causes of cataplexy include Niemann-Pick type C Disease, Angelman Syndrome, Norrie Disease, Prader-Willi Syndrome. In addition, cataplexy can be a side effect of several drugs (eg, lamotrigine, clozapine, and gamma-hydroxybutyrate). Yet, the most prevalent causes of cataplexy without narcolepsy are rare genetic diseases; which explains why cataplexy is classically linked to narcolepsy. Therefore, it is essential disconnecting cataplexy from narcolepsy especially in pediatric population and after use of a few medications. In this review, we described few conditions of cataplexy not related to narcolepsy. We performed a review of literature (MEDLINE and EMBASE database), without limited date or publication restrictions.


Assuntos
Cataplexia/etiologia , Humanos , Narcolepsia
2.
Neurology ; 79(22): e189, 2012 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-23183285

RESUMO

A 10-year-old boy presented to our hospital with a 3-year history of fall attacks triggered by laughing, leading to a generalized loss of muscle tone without loss of consciousness (video). One year later, motor delayed skills started. Examination showed ataxia, moderate cognitive impairment, and vertical gaze palsy. EEG revealed diffuse slowing and disorganization of background rhythms. Molecular analysis disclosed heterozygosis p.P1007A and p.A1035V mutations, diagnostic of Niemann-Pick disease type C (NPC).


Assuntos
Cataplexia/diagnóstico , Cataplexia/etiologia , Doença de Niemann-Pick Tipo C/complicações , Doença de Niemann-Pick Tipo C/diagnóstico , Cataplexia/genética , Criança , Humanos , Riso , Masculino , Doença de Niemann-Pick Tipo C/genética , Gravação de Videoteipe/métodos
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