Hereditary Folate Malabsorption Presenting With Pancytopenia in Two Siblings: A Case Report

Abstract

Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder caused by mutations in the SLC46A1 gene, leading to impaired intestinal and central nervous system folate transport. We present two male siblings with clinical features suggestive of HFM. The first infant exhibited pancytopenia, diarrhea, hypogammaglobulinemia, and neurological regression due to delayed diagnosis and treatment discontinuation, resulting in a fatal outcome. The second sibling was diagnosed early based on clinical suspicion and family history and showed favorable progress after timely parenteral folinic acid therapy. This report underscores the importance of early recognition, the limitations of genetic access in low-resource settings, and the critical role of parenteral folinic acid in preventing irreversible complications.