Md. Rafiqul Islam1, A.T. Reza Ahmad2, Syed Moosa M.A Quaium3
1. Registrar, Department of Pediatrics, North East Medical College Hospital Sylhet
2. Associate Professor, Department of Pediatrics, North East Medical College Hospital Sylhet
3. Professor and Head, Department of Pediatrics, North East Medical College Hospital Sylhet
Introduction:
Fanconi anemia is a genetic disease with an incidence of 1 per 350000 birth. It is most common cause of inherited pancytopenia in children which almost always develop to aplastic anemia and may have an increased risk of developing cancer. It results from genetic defect in a cluster of proteins responsible for DNA repair. Thus damaged DNA is not repaired and ultimately results in either abnormal cell death or uncontrolled cell growth. Cells that divide quickly, such as bone marrow cells are particularly affected. Abnormal death of these cells results in bone marrow failure or other physical abnormalities of Fanconi anemia, whereas abnormal cell growth results in development of cancers. It is inherited primarily in an autosomal recessive manner and only 2% cases are X-linked recessive. It occurs in all racial and ethnic groups but the incidence is higher in Askenazi Jews and South Afrikaners. The disease is named after the Swiss pediatrician Guido Fanconi who originally described this disorder. Approximately 75% of patients are 3-14 yr of age at the time of diagnosis (mean age, 8-9 yr; range, 0-48 yr).4
The clinical features of Fanconi anaemia are variable. The most common presentation is pancytopenia, thrombocytopenia, or malignancy. Physical findings are present in 50-75% case(2, 5). Common physical findings are hyper pigmentation, café-au-lait spots, short stature, thumb and arm abnormalities, organ abnormalities, developmental disability etc. Thumbs may be hypo plastic, bifid, missing or misshapen.
Fore arm bones may be under developed or absent. Growth failure may be associated with abnormal growth hormone secretion or with hypothyroidism. Anomalies of the feet, congenital hip dislocation and leg abnormalities are seen. Males may have an underdeveloped penis; undescended, atrophic, or absent testes; and hypospadias or phimosis. Females can have malformations of the vagina, uterus, and ovary. Many patients have a Fanconi “facies,” including microcephaly, small eyes, epicanthal folds, and abnormal shape, size, or positioning of the ears. Approximately 10% of patients are mentally retarded. Ectopic, pelvic, or horseshoe kidneys are detected by imaging, as well as duplicated, hypoplastic, dysplastic, or absent organs.4
As Fanconi anemia is a rare disease, there is no convincing data available regarding prevalence of this disease in Bangladesh. Our case has typical features and family history.