Abstract
Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by pancytopenia, physical abnormalities and predisposition to malignancy. It is due to DNA repair defect results in genomic instability. Diagnosis is done by chromosomal fragility test which is high sensitive and low specific test. In this case report, a nine year old girl was accidentally identified with bicytopenia during febrile illness with reactive bone marrow initially. It was followed by pancytopenia with hypocellular marrow. She was diagnosed as FA with classic physical findings of café au lait spots, microcephaly, torticollis, hypocellular bone marrow, positive mitomycin-C stress cytogenetic test and high HbF.
Highlights
Fanconi anemia (FA) is primarily inherited in an autosomal recessive manner
Her birth birth weight was 2.065kg (LBW) and she had microcephaly (OFC-30cm). She was initially investigated for persistent bicytopenia which was of café au lait spots, microcephaly, torticollis, hypocellular bone marrow, positive mitomycin-C stress cytogenetic test and high HbF
It is caused bicytopenia related to recent infection, HPLChigh HbF with normal red blood cells (RBC) indices noted (HbA71.5%,HbA2-1.6%,HbF- 19.5%)
Summary
Nine year old fourth consanguineous product with healthy siblings was transferred from local hospital for further evaluation of pancytopenia. Her birth birth weight was 2.065kg (LBW) and she had microcephaly (OFC-30cm). She was initially investigated for persistent bicytopenia which was of café au lait spots, microcephaly, torticollis, hypocellular bone marrow, positive mitomycin-C stress cytogenetic test and high HbF. (Key words: Pancytopenia, Fanconi anaemia, Chromosomal fragility) with febrile illness at the age of four years. On examination she was found to have microcephaly, multiple café-au-lait spots and right side torticollis without any skeletal deformities. Initial investig -ations (at 4 years) were WBC-3200/mm[3], absolute neutrophil count- 307/mm[3], PLT-49000/
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