Barone R, Pavone V, Nigro F, Chabàs A, Fiumara A
Division of Paediatric Neurology, Department of Paediatrics; Institute of Orthopaedics, University of Catania, Italy.
Br J Haematol. 2000 Mar;108(4):838-41. doi: 10.1046/j.1365-2141.2000.01911.x.
We report on a 63-year-old patient with Gaucher disease type I who developed severe bone involvement with destructive lesions and huge soft tissue extension in both humeri that appeared to evolve slowly. The clinical course and histopathological findings in our patient suggested a progressive extraosseous extension of the storage cells into the soft tissue, accompanied by a striking increase of fibrotic tissue and resulting in an impressive deformity. The extraordinary bone involvement in this patient expands our knowledge on the most severe skeletal complications of untreated Gaucher disease.
我们报告了一名63岁的I型戈谢病患者，其双侧肱骨出现严重骨受累，伴有破坏性病变和巨大软组织扩展，病变似乎进展缓慢。我们患者的临床病程和组织病理学发现提示，储存细胞逐渐向软组织外扩展，同时纤维化组织显著增加，导致严重畸形。该患者不同寻常的骨受累情况拓展了我们对未经治疗的戈谢病最严重骨骼并发症的认识。
