Abstract

Niemann Pick Type C (NPC) is a rare autosomal recessive lysozomal depot disease. It has highly heterogeneous appearance characterized by progressive neurological deterioration and premature death. The disease manifests itself as visceral, neurological, psychiatric disorders alone or in various combinations. The clinical presentation varies according to the age of onset. A 17-year-old girl was referred with the diagnosis of NP-C, consulted by Pediatric Metabolism Department due to the referential and persuasion delusions. After Psychiatric examination and psychometric evaluations the patient was given the diagnosis of acute psychotic episode and mental retardation. We started the risperidone treatment after evaluations. After risperidone treatment epileptic seizures have occurred. After controlling the seizures, we switched the risperidone treatment to aripiprazole. Aripiprazole treatment and psychosocial intervention of the patient whose psychotic symptoms have diminished continues. NP-C disease is a rare disease and may cause psychiatric symptoms. The questioning of developmental history and associated neurological symptoms in juvenile-onset psychotic conditions may suggest underlying NP-C disease. There is no much research with respect to treatment of psychiatric symptoms seen in NP-C. In this case report, the treatment of NP-C disease with psychiatric symptoms and treatment of psychiatric symptoms were emphasized. Aripipirazole might be an option for treatment of psychotic symptoms seen in NP-C.

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