Three Cases of Niemann Pick's Disease in Children
نویسندگان
چکیده
منابع مشابه
Three cases of Niemann Pick's disease in children.
Case 1. A girl, aged 19 years, was seen at the age of 3, when her spleen was found to be enormously enlarged and her liver palpable four fingerbreadths below the costal margin. The heart and lungs were normal, and the superficial lymph nodes were not enlarged. There was no abnormal skin pigmentation. A moderate anaemia and leucopenia were present. The platelet count was normal and a bone marrow...
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Niemann-Pick disease type C (NP-C) is a rare neurovisceral and irreversible disease leading to premature death and disabling neurological signs. This autosomal recessive disease with incidence rate of 1:120000 is caused by mutations in either the NPC1 or the NPC2 gene, which leads to accumulation of cholesterol in body tissues especially brain and progressive neurological symptoms. NP-C is char...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1959
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.34.177.406