Early Childhood Fanconi Anemia: A Rare Case Report of Early Onset Aplastic Anemia

Background: Fanconi anemia is a congenital aplastic anemia with variable hematological and clinical manifestations. It appears between 5-12 years with a median age of 7 years.

We are reporting a very rare early onset childhood aplastic anemia diagnosed as Fanconi anemia.

Case report: A 6 years old Indian female child referred to general pediatric clinic as a case of chronic idiopathic thrombocytopenic purpura since age of 2-years.

The child started to have recurrent ecchymotic skin lesions scattered in multiple sites in her body involving mainly the extremities with no associated history of mucosal bleeding or bleeding from any other sites, joint swelling, fever, weight loss or recurrent infections.

Her family history is –ve for malignancy, immunodeficiency and genetic disorders.

She noticed also to have small head for which MRI head showed microcephaly with normal brain structure.

Her exam showed (table-1) good general condition, looks small for age & has small head with other normal exam except for multiple café au lait and hypo-pigmented macules on her body.

Diagnose: In consultation with pediatric hematology team, her investigation showed (table2) severe thrombocytopenia with normal mean platelet volume, macrocytic anemia, mild leukopenia & neutropenia, normal vitamin B12, Serum & RBC folate, serum electrolytes, liver function test, lactate dehyrogeneus and uric acid. Skeletal survey showed shorter middle phalanx of the fifth digit on both sides (brachymesophalangia- type-3), microcephaly.

Her bone marrow evaluation revealed markedly hypo-cellular and cellularity less than 10%, no evidence of myeloproliferative process. overall morphologic findings are consistent with clinical diagnosis of Fanconi anemia also the peripheral blood chromosomal breakage test confirmed it.

Conclusion: Fanconi anemia is a rare congenital disease with a various clinical presentation and always it should kept in mind in a long-standing thrombocytopenia with no other obvious clinical causes.