Hepatosplenomegaly and progressive neurological symptoms - Late manifestation of Niemann-Pick disease type C - a case report
| Autor: | A. R. J. Schneider, F. Stichling, M. Hoffmann, R. Scheler, Jürgen F. Riemann, J C Arnold |
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| Rok vydání: | 2002 |
| Předmět: |
Adult
congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Cirrhosis Hepatosplenomegaly Neurological disorder Organomegaly Central nervous system disease Diagnosis Differential Bone Marrow hemic and lymphatic diseases medicine Humans Niemann-Pick Diseases Niemann–Pick disease type C business.industry Dysarthria Gastroenterology nutritional and metabolic diseases medicine.disease Liver Inborn error of metabolism Splenomegaly Female medicine.symptom business Niemann–Pick disease Hepatomegaly |
| Zdroj: | Zeitschrift fur Gastroenterologie. 39(11) |
| ISSN: | 0044-2771 |
| Popis: | Niemann-Pick disease type C is an inborn error of metabolism that affects lipid degradation and storage. Hepatosplenomegaly and progressive neurological symptoms are the main clinical features. We present a case of an adult-onset type of Niemann-Pick disease in a 33-year-old woman who initially presented with dysarthria. At first, laboratory findings suggested Wilson's disease. Laparoscopy showed macroscopic signs of liver cirrhosis and histology did not confirm Wilson's disease. After bone marrow biopsy showed characteristic sea-blue histiocytes, Niemann-Pick disease was suspected and confirmed by filipin stain of cultured fibroblasts. Though rarely encountered, lipid storage disease should be suspected especially in younger patients with organomegaly and progressive signs of neurologic disease. |
| Databáze: | OpenAIRE |
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