“Weak with Laughter”—Cataplexy as a Hint for Early Diagnosis of Niemann–Pick Type C?

Neuropediatrics 2022; 53(02): 146
DOI: 10.1055/s-0041-1733982

Videos and Images in Neuropediatrics

Verena Leppmeier

¹Clinic for Neuropediatrics, Schön Klinik Vogtareuth, Vogtareuth, Germany

,

Sybille Veit

¹Clinic for Neuropediatrics, Schön Klinik Vogtareuth, Vogtareuth, Germany

,

Simone Demund

¹Clinic for Neuropediatrics, Schön Klinik Vogtareuth, Vogtareuth, Germany

,

Christine Makowski

²München Klinik Schwabing, München, Germany

,

Gerhard Kluger

¹Clinic for Neuropediatrics, Schön Klinik Vogtareuth, Vogtareuth, Germany

References
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2 Imanishi A, Kawazoe T, Hamada Y. et al. Early detection of Niemann-Pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat. Orphanet J Rare Dis 2020; 15 (01) 269
3 Tonokura M, Fujita K, Nishino S. Review of pathophysiology and clinical management of narcolepsy in dogs. Vet Rec 2007; 161 (11) 375-380
4 Pedroso JL, Fusão EF, Ladeia-Frota C. et al. Teaching video neuroimages: gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C. Neurology 2012; 79 (22) e189-e189
5 Lyseng-Williamson KA. Miglustat: a review of its use in Niemann-Pick disease type C. Drugs 2014; 74 (01) 61-74