Fig. 1 Plain chest X Ray showing bilateral radial hypoplasia
In management,
The patient was managed with 3 PCV transfusions, the amount is
calculated by multiplying unit – 10 ml/kg. Hence, 100ml of blood per
pint. Also, I.V. fluids, Paracetamol, Folic Acid Syrup (5 ml) and
Multivitamin B complex syrup (5 ml).
He was started on steroid Cap Danazol 5 mg/kg/day.
CASE DISCUSSION-
People of various races have been diagnosed with Fanconi anaemia. The
heterozygote frequency is higher in South African Afrikaners due to
founder effects, though. One in 3,60,000 people in India have the
condition. Patients with a median age of 7 years and a sex ratio that is
typically equal have been diagnosed (3). It is an
autosomal recessive aetiology, meaning that patients with it can be
homozygous or double heterozygous. A change has occurred in one of the
16 genes. To date 16 distinct FANC genes (FANCA, FANCB,
FANCC, FANCD1 (also known as BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI,
FANCJ, FANCL, FANCM, FANCN, FANCO, FANCP, and FANCQ) have been reported(4). FANCA mutations account for 60–65% of all FA
patients globally and are the most common of them. These genes produce
proteins that are involved in the FA/BRCA repair pathway, which locates
covalently bound damage to the two DNA strands and performs its repair
through homologous monoubiquitination and recombination. The result of
their absence is interstate crosslinks (ICL). at a chromosome breakage
study of chromosomes at the metaphase stage, this results in DNA
breaking and nonhomologous end-joining of free ends, which are visible
and countable. As a result, affected individuals have chromosomal
instability, genome damage, and a significant chance of developing
cancer and congenital abnormalities (3). Clinically,
the patient’s entire body is impacted. Low birth weight, short pre- and
postnatal height, and microcephaly are among the physical anomalies
identified. When micrognathia, triangular face, and head and neck
micropthalmia are present, significant clinical suspicion should be
aroused. Persistent aortic duct coarctation and situs inversus totalis
have both been observed in CVS. The most indicative but not the most
sensitive limb examination reveals mesomelia, radial hypoplasia, and
hypothenar eminence hypoplasia. Low-set ears and hyperpigmented patches
the colour of coffee with conductive hearing loss are also present.
Agenesis and horseshoe kidneys are examples of genitourinary system
anomalies, as are misplaced testicles or ovaries. The patient’s small
height is a result of insulin resistance, hypothyroidism, and growth
hormone deficit in the endocrine system. Last but not least,
pancytopenia, acute myeloid leukaemia, bone marrow failure, and
myelodysplastic failure are all seen in haematology.
We use 2D Doppler throughout investigations to look for any cardiac
anomalies. Bony flaws should also be checked with an X-ray. The absence
of the left kidney was also confirmed by USG. The results of the
laboratory tests point to aberrant liver function, hyponatremia, and
elevated CRP levels.
We do a chromosomal breakage test (3) to determine the
illness. If you are not sensitive to Mitomycin C (4)and there is no clinical indication of FA, further research is not
required. But here, it is mitomycin C sensitive (Table 2). However, skin
fibroblast testing could be performed if clinical suspicion is present
in order to rule out Mosaicism. Additionally, gene mutation testing to
rule out additional chromosomal breakage-related diseases include Ataxia
Telangiectesia, Bloom syndrome, Roberts syndrome, DNA Ligase 4 syndrome,
and Warsaw breakage syndrome. De Novo myelodysplastic syndrome, drug- or
infection-induced pancytopenia, and paroxysomal nocturnal hemoglobinuria
are further differential diagnoses.
Additionally, the parents should receive genetic counselling and
instruction regarding the syndrome’s inheritance pattern.
Symptom-supportive care can be used to manage the sick patient. The best
treatment is blood transfusions (transfusions of packed RBCs and
platelets). Folic acid tablets and steroids like Danazol for children
could be administered. For specific treatment of the deformities,
surgical methods, androgen therapy, gene therapy, bone marrow transplant
and Haematopoietic stem cell transplant are used. The survival rate
after Transplant was 66% in case of identical sibling transplants.(2)
Follow up-