背景:Wolman病是一种罕见的疾病,是由于LIPA基因突变导致功能性脂质体酸脂肪酶缺失而引起的。它呈现出器官肿大,吸收不良,肾上腺钙化.表现可以类似噬血细胞淋巴组织细胞增多症,威胁生命的高炎症.由于这种疾病非常罕见,当患者出现噬血细胞淋巴组织细胞增生症时,临床医生可能不会想到这一点,并且可能会失去适当对待它的机会,从而导致孩子的死亡。
方法:我们介绍了一个4.5个月大的高加索男孩,icterus,和根据推测的噬血细胞淋巴组织细胞增生症治疗的肝脾肿大。Wolman病在孩子死亡后被诊断出来。文献中有一些病例报道,主要诊断为噬血细胞性淋巴组织细胞增生症的Wolman病患者。我们在这篇评论中讨论。基因分析显示,他的死亡与Wolman病相容后,在LIPA基因中引入一个新的突变:外显子4:NM_001127605:c。G353A(p。G118D),将甘氨酸氨基酸转化为天冬氨酸。
结论:考虑到Wolman病和噬血细胞性淋巴组织细胞增生症的表现相似,如果特别注意出现疑似噬血细胞性淋巴组织细胞增多症患者的特征,则可以挽救患者的生命,特别注意症状,体检结果,实验室值,和放射学发现,并紧急开始适当的治疗。报道Wolman病的新突变可以帮助遗传学家适当地解释他们的患者基因研究的结果。导致正确的诊断和治疗。
BACKGROUND: Wolman disease is a rare disease caused by the absence of functional liposomal acid lipase due to mutations in LIPA gene. It presents with organomegaly, malabsorption, and adrenal calcifications. The presentations can resemble hemophagocytic lymphohistiocytosis, the life threatening hyperinflammatory disorder. Since the disease is very rare, clinicians might not think of it when a patient presents with hemophagocytic lymphohistiocytosis, and the opportunity to treat it properly can be lost, thus leading to demise of the child.
METHODS: We present a 4.5-month-old Caucasian boy with fever, icterus, and hepatosplenomegaly who was treated according to presumed hemophagocytic lymphohistiocytosis disease. Wolman disease was diagnosed after the death of the child. There are some case reports in the literature presenting patients with Wolman disease primarily diagnosed as hemophagocytic lymphohistiocytosis, which we discuss in this review. The genetic analysis revealed after his demise was compatible with Wolman disease, introducing a novel mutation in LIPA gene: exon 4: NM_001127605: c. G353A (p.G118D), which converts the glycine amino acid to aspartic acid.
CONCLUSIONS: Considering the similarities in presentation of Wolman disease and hemophagocytic lymphohistiocytosis, the patient\'s life can be saved if special attention is paid to presenting features of a patient with suspected hemophagocytic lymphohistiocytosis, that is special attention to symptoms, findings on physical exams, laboratory values, and radiologic findings, and the proper treatment is urgently initiated. Reporting the novel mutations of Wolman disease can help geneticists interpret the results of their patients\' genetic studies appropriately, leading to correct diagnosis and treatment.