Department of Pediatrics.
Department of Medical Genetics, Tohoku University School of Medicine, Sendai.
J Pediatr Hematol Oncol. 2023 Apr 1;45(3):e384-e388. doi: 10.1097/MPH.0000000000002597. Epub 2022 Nov 21.
Multifocal lymphangioendotheliomatosis with thrombocytopenia is a rare disease characterized by progressive multiple vascular lesions and is accompanied by thrombocytopenia. The precise diagnosis of this disease is frequently difficult because of the heterogeneity of the clinical symptoms. We report a case of a male infant who presented with severe thrombocytopenia induced by local inflammation. In addition, enlargement of the extremities with soft tissue and bone involvement without gastrointestinal bleeding was observed. The thrombocytopenia resolved after a combination therapy of sirolimus and prednisolone. Our finding that plasma angiopoietin-2 concentrations reflected the disease status suggests its utility as a biomarker of Multifocal lymphangioendotheliomatosis with thrombocytopenia.
伴血小板减少的多灶性淋巴管内血管内皮细胞瘤是一种罕见疾病，其特征为进行性多灶性血管病变，并伴有血小板减少。由于临床表现的异质性，该疾病的准确诊断常常较为困难。我们报告了一例男性婴儿，其因局部炎症而出现严重的血小板减少。此外，还观察到四肢肿大，伴有软组织和骨骼受累，但无胃肠道出血。西罗莫司联合泼尼松龙的联合治疗后，血小板减少得到了缓解。我们发现血浆血管生成素-2 浓度反映了疾病状态，提示其可用作伴血小板减少的多灶性淋巴管内血管内皮细胞瘤的生物标志物。
