Teaching video neuroimages: gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C

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 ver...

Full description

Saved in:
Bibliographic Details
Published inNeurology Vol. 79; no. 22; p. e189
Main Authors Pedroso, José Luiz, Fusão, Eduardo Ferracioli, Ladeia-Frota, Carol, Arita, Juliana Harumi, Barsottini, Orlando G, Masruha, Marcelo Rodrigues, Vilanova, Luiz Celso Pereira
Format Journal Article
LanguageEnglish
Published United States 27.11.2012
Subjects
Cataplexy - diagnosis
Cataplexy - etiology
Cataplexy - genetics
Child
Humans
Laughter
Male
Niemann-Pick Disease, Type C - complications
Niemann-Pick Disease, Type C - diagnosis
Niemann-Pick Disease, Type C - genetics
Videotape Recording - methods
Online AccessGet more information

Cover

More Information
Summary: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).
ISSN:1526-632X
DOI:10.1212/wnl.0b013e31827597bf