title: Successful treatment of cataplexy in patients with early-infantile Niemann-Pick disease type C: use of tricyclic antidepressants.
abstract: 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. On the other hand, Niemann-Pick type C is a neurodegenerative lysosomal storage disease, characterized by the accumulation of cholesterol and glycosphingolipids. Cataplexy is a relatively specific and common neurologic sign seen in almost 50% of all patients with Niemann-Pick type C. The aim of this report is to demonstrate the successful treatment of cataplexy with the use of a tricyclic antidepressant imipiramine, in two patients between the ages 6-9, with mild to moderate mental retardation, molecularly diagnosed as Niemann-Pick type C 1 and currently under miglustat treatment and to discuss the possible mechanisms of drug action in the light of cataplexy and Niemann-Pick type C pathophysiology.
authors.affiliation: Departments of Child and Adolescent Psychiatry, Hacettepe University Children's Hospital, Ankara, Turkey. Electronic address: tunacak@yahoo.com.
authors.forename: Halime Tuna
authors.initials: HT
authors.lastname: Cak
authors.affiliation: Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
authors.forename: Göknur
authors.initials: G
authors.lastname: Haliloğlu
authors.affiliation: Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
authors.forename: Gökçen
authors.initials: G
authors.lastname: Düzgün
authors.affiliation: Pediatric Gastroenterology, Hacettepe University Children's Hospital, Ankara, Turkey.
authors.forename: Aysel
authors.initials: A
authors.lastname: Yüce
authors.affiliation: Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
authors.forename: Meral
authors.initials: M
authors.lastname: Topçu
mesh_terms: D000929:Antidepressive Agents, Tricyclic / Q000627:therapeutic use*; D002385:Cataplexy / Q000188:drug therapy* / Q000209:etiology*; D002648:Child; D005260:Female; D006801:Humans; D007099:Imipramine / Q000627:therapeutic use*; D052556:Niemann-Pick Disease, Type C / Q000150:complications*
chemical_list: D000929:Antidepressive Agents, Tricyclic; D007099:Imipramine
keywords: Cataplexy; Niemann–Pick disease type C; Tricyclic antidepressant