CATAPLEXY IN NIEMANN-PICK DISEASE TYPE-C

Cataplexy usually occurs as a part of the tetrad of clinical phenomena of idiopathic narcolepsy. Symptomatic cases are rare. A 4 years old g irl from consangineous parents had recurrent loss of muscle tone and f ell to the ground, when she laughed. The EEG was normal. Prolonged neo natal jaundice with cholestasis, hepatosplenomegaly, mental regression , supranuclear ophthalmoplegia, and foam cells led to the diagnosis of Niemann-Pick disease type C with symptomatic cataplexy. Symptomatic f orms of the narcolepsy-cataplexy complex should be considered, when th ere is an early onset before puberty, cataplectic attacks predominate the narcoleptic attacks, and when additional neurological symptoms occ ur. Symptomatic cataplexy occurs in Niemann-Pick disease type C. It is considered to be the result of lesions of the pontine reticular forma tion.