Kuhn Andrew S, Makusha Lovemore P, Bokhari Syed A Jamal
Department of Diagnostic Radiology & Biomedical Imaging, Yale University School of Medicine, New Haven, CT.
Department of Anesthesiology, Stanford University School of Medicine, Stanford, CA.
Radiol Case Rep. 2020 Sep 3;15(11):2067-2070. doi: 10.1016/j.radcr.2020.08.032. eCollection 2020 Nov.
We report a case of a 6-year old girl with known type 3 Gaucher's Disease on enzyme replacement therapy who developed bilateral, symmetric osteolytic lesions in her humeri and femurs. While this manifestation of Gaucher's disease has been previously documented, it is an exceedingly rare variation. We observe that this patient shares 2 commonalities with 3 other patients reported in the literature to present with this phenotype. First, the patient's L444P/L444P genotype, present in approximately 11% of all Gaucher's patients, was also seen in these other patients. Second, like the other patients, this patient was treated with enzyme replacement therapy. It is unknown whether there is a correlation between these 2 independent variables and this rare phenotype, and further investigation may be warranted.
我们报告了一例6岁已知患有3型戈谢病且正在接受酶替代疗法的女孩，她的肱骨和股骨出现了双侧对称性溶骨性病变。虽然戈谢病的这种表现此前已有记录，但它是一种极其罕见的变异情况。我们发现该患者与文献中报道的其他3例出现这种表型的患者有两个共同之处。首先，该患者的L444P/L444P基因型在所有戈谢病患者中约占11%，在其他患者中也有出现。其次，与其他患者一样，该患者接受了酶替代疗法。这两个独立变量与这种罕见表型之间是否存在关联尚不清楚，可能需要进一步研究。
