Department of Radiology, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA.
Pediatr Radiol. 2010 Aug;40(8):1440-2. doi: 10.1007/s00247-010-1560-7. Epub 2010 Feb 9.
Lipoprotein lipase deficiency (LLD) is a rare metabolic disorder that typically presents with skin xanthomas and pancreatitis in childhood. We report a case of LLD in an infant who presented with jaundice caused by a pancreatic head mass. Abdominal imaging also incidentally revealed hyperechoic renal masses caused by renal xanthomas. This appearance of the multiple abdominal masses makes this a unique infantile presentation of LLD.
脂蛋白脂肪酶缺乏症（LLD）是一种罕见的代谢紊乱疾病，通常在儿童期表现为皮肤黄色瘤和胰腺炎。我们报告了一例 LLD 婴儿病例，该婴儿因胰头部肿块引起黄疸。腹部影像学检查还意外发现由肾黄色瘤引起的高回声肾肿块。这种多个腹部肿块的表现使这成为 LLD 一种独特的婴儿期表现。
