沃尔曼病：一种酷似婴儿白血病的疾病。
Wolman Disease: A Mimic of Infant Leukemia.
作者信息
Gopakumar Kaduveettil G, Thankamony Priyakumari, Nampoothiri Sheela, Bali Deeksha, Raj Jubie, A Vasudevan Jayasudha, K Nair Ramachandran
机构信息
Departments of *Pediatric Oncology §Imageology ∥Pathology, Regional Cancer Centre, Trivandrum †Department of Pediatric Genetics, Amrita Institute of Medical Sciences, Kochi, Kerala, India ‡Department of Pediatrics Medical Genetics, Duke Health, Durham, NC.
出版信息
J Pediatr Hematol Oncol. 2017 Nov;39(8):e489-e492. doi: 10.1097/MPH.0000000000000861.
BACKGROUND
Infant leukemia most commonly present with pallor and hepatosplenomegaly. The possibility of other differential diagnosis also has to be kept in mind during evaluation, as identifying the precise etiology for this clinical presentation is crucial for management.
OBSERVATION
An infant, was referred to us with suspected infant leukemia and was subsequently diagnosed to have lysosomal acid lipase deficiency/Wolman disease with a novel 5 bp deletion "c.1180_1184del" in the last exon (exon 10) of the lipase A (LIPA) gene.
CONCLUSIONS
Hepatosplenomegaly and pallor resulting from nutritional deficiency or bone marrow involvement in Wolman disease can mimic infant leukemia.
背景
婴儿白血病最常见的表现是面色苍白和肝脾肿大。在评估过程中，还必须考虑其他鉴别诊断的可能性，因为确定这种临床表现的确切病因对于治疗至关重要。
观察
一名婴儿因疑似婴儿白血病被转诊至我们这里，随后被诊断为溶酶体酸性脂肪酶缺乏症/沃尔曼病，其脂肪酶A（LIPA）基因的最后一个外显子（外显子10）存在一个新的5碱基缺失“c.1180_1184del”。
结论
沃尔曼病中营养缺乏或骨髓受累导致的肝脾肿大及面色苍白可酷似婴儿白血病。
Zotero 插件