Poll L W, Koch J A, vom Dahl S, Loxtermann E, Sarbia M, Niederau C, Häussinger D, Mödder U
Department of Diagnostic Radiology, Heinrich Heine University Düsseldorf, Germany.
Eur Radiol. 2000;10(10):1660-3. doi: 10.1007/s003300000446.
Gaucher's disease type I is the most prevalent lysosomal storage disorder caused by an autosomal-recessive inherited deficiency of glucocerebrosidase activity with secondary accumulation of glucocerebrosides within the lysosomes of macrophages. The storage disorder produces a multisystem disease characterized by progressive visceral enlargement and gradual replacement of bone marrow with lipid-laden macrophages. Skeletal disease is a major source of disability in Gaucher's disease. Extraosseous extension of Gaucher cells is an extremely rare manifestation of skeletal Gaucher's disease. This is a report on the MRI and histopathological findings of an extraosseous Gaucher-cell extension into the midface in a patient with Gaucher's disease.
I型戈谢病是最常见的溶酶体贮积症，由常染色体隐性遗传导致的葡萄糖脑苷脂酶活性缺乏引起，继发葡萄糖脑苷脂在巨噬细胞溶酶体内蓄积。这种贮积症会引发多系统疾病，其特征为内脏进行性肿大以及骨髓逐渐被充满脂质的巨噬细胞替代。骨骼疾病是戈谢病导致残疾的主要原因。戈谢细胞的骨外扩展是骨骼型戈谢病极其罕见的一种表现形式。本文报告了1例戈谢病患者戈谢细胞骨外扩展至中面部的MRI及组织病理学检查结果。
