TITLE:
From Surgery to Hematology: Fanconi Anemia about a Case of a Senegalese Child
AUTHORS:
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
KEYWORDS:
Aplastic Anaemia, West Africa, Paediatric Surgery, Malformations
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.10 No.4,
December
3,
2020
ABSTRACT: 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 preoperative examination. Physicians must be aware that FA, although its incidence is low,
can be hidden behind infantile anaemia.