Abstract

Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is a recently recognized disorder characterized by vascular lesions marked by distinct endothelial proliferation. Lesions affect multiple tissues, and MLT can be associated with refractory thrombocytopenia resulting in life-threatening bleeding. Diagnosing MLT may be challenging given its rarity and phenotypic variability. There is no consensus on the optimal management or treatment duration. We report a 4-month-old male who presented with multiple vascular malformations involving the gastrointestinal tract, lung, bones, choroid plexus, and spleen, with minimal cutaneous involvement and no thrombocytopenia. Wedge resection of a pulmonary nodule was strongly positive for lymphatic vessel endothelial hyaluronan receptor 1 favoring MLT despite the lack of thrombocytopenia. The patient’s clinical symptoms and vascular lesions improved on sirolimus therapy. We review the literature to highlight the clinical variability of MLT and discuss the diagnostic and therapeutic options for MLT.

摘要

伴有血小板减少症（MLT）的多灶性淋巴管内皮细胞增生病是一种最近被认可的疾病，其特征在于以明显的内皮细胞增生为特征的血管病变。病变会影响多个组织，而MLT可能与难治性血小板减少症相关，导致威胁生命的出血。鉴于其罕见性和表型变异性，诊断MLT可能具有挑战性。最佳治疗或疗程尚无共识。我们报告了一个4个月大的男性，该男性呈现出包括胃肠道，肺，骨骼，脉络丛和脾在内的多种血管畸形，皮肤受累最少，无血小板减少。尽管缺乏血小板减少症，但肺结节的楔形切除对有利于MLT的淋巴管内皮透明质酸受体1强烈阳性。西罗莫司治疗可改善患者的临床症状和血管病变。我们复习文献以突出MLT的临床变异性，并讨论MLT的诊断和治疗选择。