Department of Pediatric Hematology and Oncology.
Pediatric Intensive Care Unit University of Health Sciences, Van Training and Research Hospital.
Arch Argent Pediatr. 2020 Apr;118(2):e174-e177. doi: 10.5546/aap.2020.eng.e174.
Hemophagocytic lymphohystiocytosis (HLH) may be primary (inherited/familial) or secondary to infections, malignancies, rheumatologic disorders, immune deficiency syndromes and metabolic diseases. Cases including lysinuric protein intolerance, multiple sulfatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis have previously been reported. It is unclear how the metabolites trigger HLH in metabolic diseases. A 2-month-old infant with lethargy, pallor, poor feeding, hepatosplenomegaly, fever and pancytopenia, was diagnosed with HLH and the HLH-2004 treatment protocol was initiated. Analysis for primary HLH gene mutations and metabolic screening tests were performed together; primary HLH gene mutations were negative, but hyperammonemia and elevated methyl citrate were detected. Propionic acidemia was diagnosed with tandem mass spectrometry in neonatal dried blood spot. We report this case of HLH secondary to propionic acidemia. Both metabolic disorder screening tests and gene mutation analysis may be performed simultaneously especially for early diagnosis in infants presenting with HLH.
噬血细胞性淋巴组织细胞增生症（HLH）可分为原发性（遗传性/家族性）或继发性，其继发原因包括感染、恶性肿瘤、风湿性疾病、免疫缺陷综合征和代谢性疾病等。此前已有赖氨酸尿蛋白不耐受症、多种硫酸酯酶缺乏症、半乳糖血症、戈谢病、Pearson 综合征和半乳糖脑苷脂沉积症等病例报道。目前尚不清楚代谢性疾病中的代谢物如何引发 HLH。本研究报道了 1 例 2 月龄婴儿，因嗜睡、苍白、喂养不良、肝脾肿大、发热和全血细胞减少而被诊断为 HLH，并开始采用 HLH-2004 治疗方案。同时进行原发性 HLH 基因突变分析和代谢筛查检测，结果显示原发性 HLH 基因突变阴性，但检测到高血氨和甲基枸橼酸升高。采用串联质谱法在新生儿干血斑中诊断出丙酸血症。本研究报道了 1 例由丙酸血症引起的 HLH 病例。对于出现 HLH 的婴儿，特别是对于早期诊断，应同时进行代谢紊乱筛查检测和基因突变分析。
