Fanconi anemia with neutropenic colitis: An unusual case report

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.