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.

IntroductionMultiple sclerosis is an infrequent inflammatory disease of the central nervous system (CNS) that is distinguished by its assorted clinical and radiological presentations [1, 2]. Tumefactive demyelination, or tumefactive multiple sclerosis, stands apart as a distinctive entity within this spectrum. Demyelinating lesions in the central nervous system (CNS) are a sign of these diseases. These lesions can be big, measuring 2 cm or more in diameter, or small, measuring between 0.5 cm and 2 cm, but have the potential to cause mass effects. This unique feature may result in these lesions being initially misidentified as tumor-like space-occupying lesions; however, they typically exhibit a characteristic appearance on radiographic imaging and are clinically benign [3–5]. Tumefactive demyelination, which is distinct from multiple sclerosis, occurs at an estimated rate of about 1-2 per 1000 cases of MS, although some studies propose a higher incidence ranging from 1.4% to 8% [6–7]. However, tumefactive demyelinating lesions can occur concurrently with autoimmune diseases (e.g., Sjogren disease, lupus erythematosus, neuromyelitis optica), infectious diseases (e.g., HIV), malignancy (e.g., renal cell carcinoma), drug-related conditions (e.g., tacrolimus, fingolimod), and postinfectious conditions (e.g., acute disseminated encephalomyelitis, acute hemorrhage leukoencephalitis). Tumefactive demyelination can show up on its own at the start of a disease or as other diseases progress, but the pathophysiology of how it happens is not well understood. On magnetic resonance imaging (MRI) scans, these lesions can appear either as a single large lesion or several lesions exhibiting varying degrees of contrast enhancement. We present here a case study involving a thirty-year-old female who presented with a fever lasting three days followed by Wernicke’s aphasia without right-sided weakness and whose MRI findings were consistent with tumefactive brain demyelination.