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5. Teaching Video NeuroImages

Author

Pedroso, José Luiz, Fusão, Eduardo Ferracioli, Ladeia-Frota, Carol, Arita, Juliana Harumi, Barsottini, Orlando G., Masruha, Marcelo Rodrigues, and Vilanova, Luiz Celso Pereira

Published
2012
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6. Teaching video neuroimages: gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C.

Author

Pedroso JL, Fusão EF, Ladeia-Frota C, Arita JH, Barsottini OG, Masruha MR, and Vilanova LC

Subjects
Cataplexy genetics, Child, Humans, Laughter, Male, Niemann-Pick Disease, Type C genetics, Videotape Recording methods, Cataplexy diagnosis, Cataplexy etiology, Niemann-Pick Disease, Type C complications, Niemann-Pick Disease, Type C diagnosis
Abstract

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).

Published
2012
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