[Fanconi's anemia with early onset a case report]

ABSTRACT

Fanconi's anemia [LA] is a rare autosomal recessive disease characterized by the association of progressive pancytopenia, congenital abnormalities and predisposition to cancer. Usually, diagnosis is made at school age. Exceptionally, the desease may occur early since the neonatal period. We report a case of Fanconi's anemia with early onset at an infant aged of ten months who presented with congenital malformations microcephaly, triangular face, bilateral radial defects, renal and genital abnormalities. At the age of 10 months, the patient developed brownish spots and a pancytopenia. The diagnosis of FA is confirmed by bone marrow biopsy and cytogenetic study. The patient died at the age of 14 months by septic shock. The possibility of early onset of BA anemia must consider this diagnosis in every case of aplastic anemia regardless of the age even in the absence of typical congenital abnormalities