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

Open Journal of Pediatrics 2020年第4期10卷 635-641页

作者： A. Kane I. Deme/ly G. Diagne D. A. Mbaye M. fattah A. Sow N. F. Sow A. M. coundoul S. Sow K. Bop P. M. faye A. L. fall O. Ndiaye Department of Pediatrics of the National Children’s Center Albert Royer Dakar Senegal Department of Pediatrics of the National Hospital Center Abass NDAO Dakar Senegal Department of Pediatrics of the University Hospital Center Aristide Le Dantec Dakar Senegal

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 are: 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 cause diagnostic 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 dysmyelopoiesis. Being triggered by this, systematic examinations were performed, which revealed other signs indicative of FA;i.e., 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 preoperativefamily:Verdana;"> examination. Physicians must be aware that fa, although its incidence is low, can be hidden behind infantile anaemia.

关键词： Aplastic Anaemia West Africa Paediatric Surgery Malformations

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