title: Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient.
abstract: Niemann-Pick disease type C is a rare lipid trafficking disorder characterized by the accumulation of cholesterol and glycosphingolipids in the brain and viscera. Perinatal, early infantile, late infantile, juvenile and adult forms are distinguished based on the age of manifestation. In the juvenile form, patients in their early years are usually, but not always, symptom free, but present with neurodegeneration later in their lives. These include clumsiness, ataxia, seizures, motor and intellectual decline. Psychiatric manifestations may occur at any stage of the disease. These manifestations include schizophrenia, presenile dementia, depression or psychosis. In 2009, miglustat was approved for the therapy of the disease. We present a case of a patient with juvenile Niemann-Pick C disease whose psychosis was reversed completely by miglustat treatment. Based on our clinical experience we suggest considering Niemann-Pick C in cases of therapy-resistant psychosis and encourage the introduction of miglustat in Niemann-Pick C patients even in the most advanced cases, with respect to psychiatric illness.
authors.affiliation: Institute of Pediatrics, Clinical Genetic Center, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary. Electronic address: szakszon.katalin@gmail.com.
authors.forename: Katalin
authors.initials: K
authors.lastname: Szakszon
authors.affiliation: Institute of Pediatrics, Clinical Genetic Center, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.
authors.forename: István
authors.initials: I
authors.lastname: Szegedi
authors.affiliation: Institute of Pediatrics, Clinical Genetic Center, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.
authors.forename: Agnes
authors.initials: A
authors.lastname: Magyar
authors.affiliation: Institute of Pediatrics, Clinical Genetic Center, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.
authors.forename: Eva
authors.initials: E
authors.lastname: Oláh
authors.affiliation: Department of Psychiatry, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.
authors.forename: Mónika
authors.initials: M
authors.lastname: Andrejkovics
authors.affiliation: Department of Psychiatry, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.
authors.forename: Petra
authors.initials: P
authors.lastname: Balla
authors.affiliation: Department of Neurology, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.
authors.forename: András
authors.initials: A
authors.lastname: Lengyel
authors.affiliation: Department of Biomedical Laboratory and Imaging Science, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.
authors.forename: Ervin
authors.initials: E
authors.lastname: Berényi
authors.affiliation: Department of Laboratory Medicine, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.
authors.forename: István
authors.initials: I
authors.lastname: Balogh
mesh_terms: D017485:1-Deoxynojirimycin / Q000008:administration & dosage / Q000031:analogs & derivatives* / Q000627:therapeutic use; D000293:Adolescent; D017668:Age of Onset; D001284:Atrophy; D054022:Cerebrum / Q000187:drug effects / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008297:Male; D052556:Niemann-Pick Disease, Type C / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D011618:Psychotic Disorders / Q000188:drug therapy / Q000209:etiology*; D016896:Treatment Outcome
chemical_list: D017485:1-Deoxynojirimycin; C059896:miglustat
keywords: Cerebral atrophy; Miglustat; Niemann–Pick C; Psychosis