Cataplexy in variant forms of Niemann‐Pick disease

A combination of cataplexy and a variant form of Niemann‐Pick disease has occurred in five patients described in the literature as well as in two of our patients. In our Patient 1, cataplexy was differentiated from epilepsy by electroencephalographic telemetry and narcolepsy was confirmed by polysomnography. Cataplexy was abolished in both of our patients by treatment with protriptyline. Four of the seven patients had impairment of vertical eye movements. All seven patients had a disorder best classified as type C or D Niemann‐Pick disease or the Neville, Wenger, or Wiedemann variant. This appears to be the first identified relationship between cataplexy and a specific disease.