Lysosomal acid lipase (LAL) deficiency (LAL-D) is a lysosomal lipid storage disorder in which the accumulation of cholesteryl esters and triglycerides predominantly in hepatocytes and cells of the macrophage-monocyte system is observed. The disturbance in the synthesis and trafficking of cholesterol and other lipids (triglycerides as well as phospholipids) as well as the systemic lipoprotein dysregulation, reflects the pathophysiology of LAL-D.

The aim of this study was to present the occurrence of macrophage derived structures in LAL-D patient, and to provide an overview on underlying mechanisms, as the literature about the presence of such cluster cells in LAL deficiency is sparse.

We describe the case of LAL-D patient diagnosed at 3 years of age, in whom the massive macrophage accumulation resulting in the abdominal lymphadenopathy, subcutaneous papules and hepatosplenomegaly, have been observed within 4 years since diagnosis. Histopathological examination of the excised lymph nodes and subcutaneous papules revealed them to be diffusely infiltrated by lipid-overloaded histiocytes. The immunohistochemistry revealed the macrophages to be CD68-positive.

This study comprises one of the first reports of accumulation of lipid-laden macrophages throughout the body in the course of LAL-D.

溶酶体酸性脂肪酶（LAL）缺乏症（LAL-D）是一种溶酶体脂质储存障碍，其中观察到胆固醇酯和甘油三酯主要在肝细胞和巨噬细胞-单核细胞系统的细胞中积聚。胆固醇和其他脂质（甘油三酯和磷脂）合成和运输的紊乱以及全身性脂蛋白失调反映了 LAL-D 的病理生理学。

本研究的目的是展示 LAL-D 患者巨噬细胞衍生结构的发生情况，并概述潜在机制，因为有关 LAL 缺乏症中此类簇细胞存在的文献很少。

我们描述了一名 3 岁时诊断出的 LAL-D 患者的病例，该患者在诊断后 4 年内出现大量巨噬细胞积聚，导致腹部淋巴结肿大、皮下丘疹和肝脾肿大。切除的淋巴结和皮下丘疹的组织病理学检查显示它们被脂质超载的组织细胞广泛浸润。免疫组织化学显示巨噬细胞呈CD68阳性。

这项研究是关于 LAL-D 过程中负载脂质的巨噬细胞在全身积累的首批报告之一。