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

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• 作者：Katalin Szakszon ; Istv谩n Szegedi ; 脕gnes Magyar ; 脡va Ol谩h ; M贸nika Andrejkovics ; Petra Balla ; Andr谩s Lengyel ; Ervin Ber茅nyi ; Istv谩n Balogh
• 关键词：Niemann&ndash ; Pick C ; Miglustat ; Psychosis ; Cerebral atrophy
• 刊名：European Journal of Paediatric Neurology
• 出版年：January, 2014
• 年：2014
• 卷：18
• 期：1
• 页码：75-78
• 全文大小：358 K

文摘

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.