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-