A Rare Case of Fanconi Anemia with Mitomycin C sensitivityIntroduction-Fanconi anemia is a rare type of anemia whose incidence in India is 1 in 3,50,000(3). More prevalence is seen in the South African people. The Ashkenazi community is more likely to suffer from this illness. Compared to black South Africans, who have a carrier frequency of one in 40,000, Ashkenazi Jews have a disease carrier frequency of one in 89 (5). It is the most common inherited form of aplastic anemia. It is an autosomal recessive condition. The disease is evident due to chromosomal instability that affects the proteins involved in DNA Repair and regulation of cell cycle. This disorder has clinical manifestations related to skin, skeletal system, hematogical majorly. The management can be supportive and definite.CASE PRESENTATION-A referred case of a 6-year-old boy who was known to have Fanconi anaemia to SSG Hospital on 11/06/23. Six months before the admission, the patient went to Parul Hospital, Vadodara and made three visits ( in January, March and May ) in a span of six months. Every time, he was administered 2 units of 100 ml blood and the hemoglobin came to normal range after infusions. The private hospital then referred it to SSG Hospital, Vadodara. Initially, for five years the patient was asymptomatic and then this year the patient more frequently at night and with an intensifying dry cough, he started to feel unwell, and the patient was transported to a private hospital. The patient’s parents and two siblings remain unaffected. On general examination, the patient had considerable pallor on the tongue, mucosal linings, and nails, as well as generalised swelling in both the upper and lower limbs. He also had Mesomelia, low set ears, multiple hyperpigmented macules, Microcephaly, Micropthalmos, and thumb hypoplasia in both hands. The left kidney could not be felt when the abdomen was palpated, despite the fact that the testicles were bilaterally undescended and the abdomen was soft and non-tender. All developmental milestones have been attained by the patient. He has a history of PCV (Packed Cell Volume) transfusions from last six months.Investigations included differential WBC count and full blood count. The biochemical investigation (Table 1) reveals a normal urea level, normal thyroid function, and elevated C- reactive protein in addition to an aberrant liver profile (with elevated S.AST and S.ALT) and normal electrolytes. Also, the heamatological profile supported the patient’s pancytopenia as he has decreased Red blood cell count, platelet count and total WBC count. Even the patient’s Hb was below normal levels. The Red Cell Distribution Width was also more than normal levels due to premature release of immature cells into the bloodstream(7). A USG was performed, which revealed a right kidney with a somewhat dilated calyceal system and the absence of the left kidney in the left renal or iliac fossa. This is due to congenital agenesis of left kidney. The X-ray, revealed bilateral radial hypoplasia (Fig. 1) , which is a typical feature of Fanconi Anemia.