Title |
Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease
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Published in |
Child and Adolescent Psychiatry and Mental Health, July 2014
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DOI | 10.1186/1753-2000-8-20 |
Pubmed ID | |
Authors |
Sara Wouters, Linda De Meirleir, Edward Campforts, Annik Lampo |
Abstract |
Niemann-Pick disease type C (NP-C) is a rare autosomal-recessively inherited lysosomal storage disorder. It is caused by mutations in the NPC1 (95%) or NPC2 gene. It is a progressive and highly heterogeneous disease, characterized by the presentation of visceral, neurological, and psychiatric symptoms. Apart from the patients that die early from organic failure, most of the patients with juvenile and adolescent/adult onset of the disease, develop neurological and psychiatric symptoms. In some cases psychiatric signs, mostly psychosis, can be the first sign of the disease. A delay in diagnosis is often seen. By describing the case of a 16-year old girl, we would like to highlight current opinion about NP-C disease and resume recent findings on the clinical presentation, diagnosis and treatment. We focus on the psychiatric signs, and most important the specific combinations that are typical for the disease. There is no curative treatment for NP-C. Miglustat is used to modify neurological signs in NP-C. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 27 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Other | 5 | 19% |
Researcher | 3 | 11% |
Student > Bachelor | 3 | 11% |
Student > Master | 3 | 11% |
Student > Doctoral Student | 2 | 7% |
Other | 7 | 26% |
Unknown | 4 | 15% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 10 | 37% |
Psychology | 4 | 15% |
Agricultural and Biological Sciences | 3 | 11% |
Biochemistry, Genetics and Molecular Biology | 3 | 11% |
Nursing and Health Professions | 1 | 4% |
Other | 1 | 4% |
Unknown | 5 | 19% |