Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient

Katalin Szakszon, István Szegedi, Ágnes Magyar, Éva Oláh, Mónika Andrejkovics, Petra Balla, András Lengyel, Ervin Berényi, István Balogh

Research output: Contribution to journalArticle

12 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)75-78
Number of pages4
JournalEuropean Journal of Paediatric Neurology
Issue number1
Publication statusPublished - Jan 2014


  • Cerebral atrophy
  • Miglustat
  • Niemann-Pick C
  • Psychosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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