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.