From Surgery to Hematology: Fanconi Anemia about a Case of a Senegalese Child

• 作者: A. Kane A. L. Fall A. M. Coundoul A. Sow D. A. Mbaye G. Diagne I. Deme/ly K. Bop M. Fattah N. F. Sow O. Ndiaye P. M. Faye S. Sow
• 来源期刊: 儿科学期刊(英文)
• 学科: 医学
• 关键词: Aplastic Anaemia West Africa Paediatric Surgery MALFORMATIONS
• 年，卷（期）: 2020,（4）
• 页码范围: 635-641
• 页数: 7页
• 分类号: R73

摘要

Fanconi anaemia (FA) is a rare genetic abnormality. Most of FA reported from the sub-Saharan population came from southern Africa, with many patients linked to a mutation in the FANC G gene. Classic triads of this disorder </span><span style="font-family:Verdana;">are:</span><span style="font-family:Verdana;"> a varied malformation, bone marrow failure, and short stature. This disorder is also associated with predisposition to malignancies. These multiple manifestations, sometimes not uniform, often </span><span style="font-family:Verdana;">cause</span> <span style="font-family:Verdana;">diagnostic</span><span style="font-family:Verdana;"> delay. We here report a 13-year-old Senegalese boy with FA. He was followed up for polydactyly-repair surgery. Importantly, pre-operative blood check-up revealed severe anaemia, which prompted us to perform bone marrow aspiration: examination revealed </span><span style="font-family:Verdana;">dysmyelopoiesis</span><span style="font-family:Verdana;">. Being triggered by this, systematic examinations were performed, which revealed other signs indicative of FA;</span><i><span style="font-family:Verdana;">i.e.</span></i><span style="font-family:Verdana;">, radial spine abnormalities, triangular face, etc. The diagnosis of FA was strongly suggested, which prompted genetic examination. The chromosomal breakage test detected cellular hypersensitivity to DNA, which confirmed the diagnosis. He is receiving transfusion support, and androgens use is being considered. This case highlights the importance of </span><span style="font-family:Verdana;">preoperative</span><span style="font-family:Verdana;"> examination. Physicians must be aware that FA, although its incidence is low, can be hidden behind infantile anaemia.