Sadhukhan Meghmala, Saha Amit, Vara Roshni, Bhaduri Bim
Maidstone & Tunbridge Wells NHS Trust, Pembury, UK.
Department of Paediatrics & Neonatology, Maidstone and Tunbridge Wells Hospitals NHS Trust, Pembury, Kent, UK.
BMJ Case Rep. 2014 May 15;2014:bcr2013202652. doi: 10.1136/bcr-2013-202652.
Lysosomal acid lipase (LAL) deficiency is a rare autosomal recessive disorder which causes two distinct clinical phenotypes: Wolman's disease and cholesterol ester storage disease. LAL hydrolyses LDL-derived triglycerides and cholesterol esters to glycerol or cholesterol and free fatty acids. Its deficiency leads to accumulation of intracellular triglycerides and/or cholesterol esters. In early onset LAL deficiency, clinical manifestations start in the first few weeks of life with persistent vomiting, failure to thrive, hepatosplenomegaly, liver dysfunction and hepatic failure. Adrenal calcification is a striking feature but is present in only about 50% of cases. We report a case of an infant presenting with vomiting, diarrhoea, hepatosplenomegaly and poor weight gain that was subsequently diagnosed as Wolman's disease. He was entered into a clinical trial for LAL replacement therapy. This case reinforces that early onset LAL deficiency should be considered in a baby presenting with failure to thrive, gastrointestinal symptoms and hepatosplenomegaly.
溶酶体酸性脂肪酶（LAL）缺乏症是一种罕见的常染色体隐性疾病，可导致两种不同的临床表型：沃尔曼病和胆固醇酯贮积病。LAL将低密度脂蛋白衍生的甘油三酯和胆固醇酯水解为甘油或胆固醇以及游离脂肪酸。其缺乏会导致细胞内甘油三酯和/或胆固醇酯的积累。在早发型LAL缺乏症中，临床表现始于生命的最初几周，伴有持续呕吐、生长发育迟缓、肝脾肿大、肝功能障碍和肝衰竭。肾上腺钙化是一个显著特征，但仅在约50%的病例中出现。我们报告一例婴儿，表现为呕吐、腹泻、肝脾肿大和体重增加不佳，随后被诊断为沃尔曼病。他参加了LAL替代疗法的临床试验。该病例强化了对于出现生长发育迟缓、胃肠道症状和肝脾肿大的婴儿应考虑早发型LAL缺乏症的观点。
