Deepak Sharma* and Rakesh Sharma
Department of Pediatrics, Maharishi Markandeshwar Medical College and Hospital, IndiaFulltext PDF
Background: Fanconi Anemia, though rare, is the most common form of constitutional aplastic anemia with an autosomal recessive (except one x linkage) inheritance that results from defects in genes with 16 complementation groups that modulate the stability of the DNA characterized by diverse congenital malformations, progressive pancytopenia, and predisposition to both hematological malignancy and solid tumors. Congenital malformation varies from patient to patient and may affect the skeletal system as well as organ systems. With an incidence of 1 to 5 per million, a highly variable phenotypic presentation with clinical manifestations makes difficult for diagnosis in some cases and Chromosomal Breakage Study induced by MMC (Mitomycin-C)/DEB (Diepoxybutane) provide a unique cellular marker for diagnosis.Case
Presentation: In this case report, a 4 year old Asian male child presented with tachypnea, progressive pallor, intermittent fever and non productive cough. He was found to be short stature, underweight for his age and had microcephaly. Café au lait spots were present with absent thumb on the right hand.Conclusion: Peripheral smear showed pancytopenia, bone aspiration was inconclusive due to insufficient particulate matter. X-Ray showed absent radius on right side and USG revealed right sided renal agenesis. Chromosomal Breakage Study was positive.
Sharma D, Sharma R. Fanconi Anemia - A Rare Case Report. Ann Clin Case Rep. 2019; 4: 1666.