Fanconi anemia: A rare aplastic anemia in a four year old boy-a case report and literature review

Auhtor: N Mahmud, AKMR Karim, SH Hasan, GMT Ali

Abstract:

Fanconi anemia is a rare autosomal recessive inherited bone marrow failure syndrome which can affect all races. It is characterized by congenital abnormalities, defective haemopoiesis and a high risk of developing acute myeloid leukaemia and certain solid tumours. Approximately 75% of the patient diagnosed between 3-14 years of age. The diagnosis is based on morphological abnormalities, hematologic abnormalities and genetic tests. We present here a case of a boy suffering from anemia with hyperpigmentation of skin, café-au-lait spot, growth failure, absent radius and thumb, characteristic facies, undescended testes and congenital heart disease. Pancytopenia, dysplastic marrow and multiple congenital anomalies may be a clue to diagnosis in a center which has no facility to do advanced tests.

Details