ICNC Abstracts, ICNC 2018

Font Size: 
Gelastic cataplexy leading to the diagnosis of Niemann-Pick disease type C
Ezgi Oktener Anuk

Last modified: 2018-09-09


Introduction: Cataplexy is a brief episode of bilateral loss of muscle tone with intact consciousness, triggered by a variety of strong emotions such as anger, laugh, humor or surprise and it is considered to represent the physiologic atonia of rapid eye movement sleep. However, Niemann-Pick disease type C (NPC) is an inherited lipid storage disorder, characterized by a defect in intracellular trafficking of exogenous cholesterol that leads to the lysosomal accumulation of unesterified cholesterol. The aim of this report is to demonstrate a patient who presenting of gelastic cataplexy, is get a diagnosis NPC.

Case Description: A 5-year-old boy presented to our hospital with a 3,5-year history of fall attacks triggered by laughing, leading to a generalized loss of muscle tone without loss of consciousness. The boy has reciped to ataxia, moderate cognitive impairment and vertical gaze palsy for 3 years. The boy has hepatosplenomegali. These signs are ledaded us NPC. We showed the cataplexy with polysomnography. We do the patient bone marrow aspiration. The foam cell was seen.


Result: We were molecularly diagnosed as NPC1 homozygous mutation, diagnostic of NPC.



Gelastic cataplexy is rarely described as the first neurologic symptom.  Children with very frequent cataplexy should be tested early for NPC.


cataplexy;Niemann-Pick disease type C

Conference registration is required in order to view papers.

Comments On Paper

View all comments