A Rare Case of Fanconi Anemia with Mitomycin C sensitivity
Introduction-
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.