https://scholars.lib.ntu.edu.tw/handle/123456789/526016
標題: | Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation | 作者: | CHUN-AN CHEN Tang N.L.S. YIN-HSIU CHIEN Zhang W.-M. JOU-KOU WANG WUH-LIANG HWU |
公開日期: | 2005 | 卷: | 6 | 起(迄)頁: | 25 | 來源出版物: | BMC Medical Genetics | 摘要: | Background: Gaucher disease type I, the non-neuropathic type, usually presents in adulthood with hepatosplenomegaly. We report here an adult with type I Gaucher disease presented with unusual and severe clinical manifestations. Case presentation: Hepatosplenomegaly, bone crisis and fractures occurred at early childhood, and splenectomy was performed at the age of 5. Exophthalmos with increase in retrobulbar space was noted when the patient was 30. Cerezyme infusion started at the age of 32; but unfortunately, pulmonary arteriovenous malformation with dyspnea and hypoxemia was found two years later. Gene analysis revealed V375L/L444P mutations in the β-glucocerebrosidase gene. Conclusions: Although both eye and lung diseases have been associated with Gaucher disease, this is the first reported demonstration of exophthalmos and pulmonary arteriovenous malformation in the same patient. This case may therefore present an extremely severe and unusual form of type I Gaucher disease. ? 2005 Chen et al., licensee BioMed Central Ltd. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-26444491716&doi=10.1186%2f1471-2350-6-25&partnerID=40&md5=a78088ae18dd504ce9d55d9948740986 https://scholars.lib.ntu.edu.tw/handle/123456789/526016 |
ISSN: | 1471-2350 | DOI: | 10.1186/1471-2350-6-25 | SDG/關鍵字: | glucosylceramide; imiglucerase; adult; arteriovenous malformation; article; bone disease; case report; clinical feature; dyspnea; exophthalmos; female; fracture; Gaucher disease; gene mutation; hepatosplenomegaly; human; hypoxemia; lung blood vessel; lung disease; splenectomy; arteriovenous malformation; congenital malformation; exophthalmos; Gaucher disease; pulmonary artery; Adult; Arteriovenous Malformations; Exophthalmos; Female; Gaucher Disease; Humans; Pulmonary Artery |
顯示於: | 醫學系 |
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