Fanconi anemia with neutropenic colitis: An unusual case report

G. Andhuvan
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Abstract

Fanconi anemia (FA) is a rare, genetically inherited autosomal recessive disorder that manifests as bone marrow failure syndrome. Defects in genes with 16 complementation groups alter the stability of the DNA which is characterized by congenital malformations and progressive pancytopenia. This, in turn, can predispose to acute myeloid leukemia and other solid tumors. The most common diagnostic methods used in the detection of FA includes bone marrow biopsy and chromosome breakage test. We report a case of a 6-year-old Asian female child who presented with major complaints of lower abdominal pain, difficulty in swallowing, generalized tiredness, and gum bleeding. Her physical features were manifested as short stature, partial ptosis, hypopigmented spots on both hands, and thumb hypoplasia. Her bone marrow aspiration and biopsy showed markedly hypocellular bone marrow with reduced trilineage hematopoiesis which was suggestive of FA.
范可尼贫血合并中性粒细胞减少性结肠炎1例
范可尼贫血(FA)是一种罕见的遗传性常染色体隐性遗传病,表现为骨髓衰竭综合征。具有16个互补基团的基因缺陷改变了DNA的稳定性,其特征是先天性畸形和进行性全血细胞减少症。这反过来又会导致急性髓性白血病和其他实体瘤。最常用的诊断方法是骨髓活检和染色体断裂试验。我们报告一例6岁的亚洲女童,她以下腹疼痛、吞咽困难、全身疲劳和牙龈出血为主诉。她的身体特征表现为身材矮小,部分上睑下垂,双手色素沉着,拇指发育不全。她的骨髓穿刺和活检显示骨髓细胞明显减少,三岁造血功能减少,提示FA。
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