Adult sphingomyelinase deficiency: report of 2 patients who initially presented with psychiatric disorders
| Autor: | Jean-Jacques Hauw, J M Mussini, G Dubois, J C Turpin, J L Kemeny, J Battesti, J C Mazière, M Auclair, J. M. Boutry |
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| Rok vydání: | 1990 |
| Předmět: |
Adult
Male medicine.medical_specialty Psychosis Disease Sphingomyelin phosphodiesterase chemistry.chemical_compound hemic and lymphatic diseases Internal medicine Biopsy Leukocytes Medicine Humans Psychiatry Subclinical infection Niemann-Pick Diseases medicine.diagnostic_test business.industry Cholesterol Phosphoric Diester Hydrolases nutritional and metabolic diseases Fibroblasts medicine.disease Endocrinology Sphingomyelin Phosphodiesterase chemistry Psychotic Disorders Chronic Disease lipids (amino acids peptides and proteins) Neurology (clinical) Acid sphingomyelinase business Niemann–Pick disease Bronchoalveolar Lavage Fluid medicine.drug |
| Zdroj: | Neurology. 40(1) |
| ISSN: | 0028-3878 |
| Popis: | We studied 2 unrelated adult patients under neuroleptic treatment who met all phenotypic and biochemical criteria for Niemann-Pick disease type B. In addition, they had chronic psychiatric disorders and low blood levels of HDL cholesterol. The marked and persistent deficiency of acid sphingomyelinase and the disturbance of sphingomyelin metabolism in skin fibroblast subcultures ruled out a pure drug-induced lipidosis. The association of Niemann-Pick disease type B with psychiatric disorders and with low levels of HDL cholesterol could be a chance association of 2 diseases, a new phenotype of Niemann-Pick type B, or the revelation by the neuroleptic treatment of a subclinical inborn sphingomyelinase deficiency. |
| Databáze: | OpenAIRE |
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