Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant.
Hereditary folate malabsorption (HFM) is a rare disorder of proton-coupled folate transporter deficiency. It is characterized by macrocytic anemia, recurrent infections, and epilepsy. A five-year-old girl presented with recurrent pneumonia, diarrhea, and mouth ulcers. On examination, pallor, microcephaly with spastic quadriparesis was noted. On investigations, leukopenia and thrombocytopenia with megaloblastic bone marrow picture and low folate levels was found. HFM was diagnosed at two years of age and the child was treated with folinic acid. Her diagnosis was confirmed by whole-exome sequencing which revealed a novel pathogenic homozygous frameshift insertion variation (c.620dupG) in the exon 2 of the SLC46A1 gene which was further confirmed by Sanger sequencing. The child improved significantly except for a partial improvement in neurological symptoms.
['Gowda|Vykuntaraju K|VK|http://orcid.org/0000-0001-7244-0492', 'Battina|Manojna|M|', 'Shivappa|Sanjay K|SK|', 'Benakappa|Naveen|N|']
D002648:Child D002675:Child, Preschool D000069279:Drug Resistant Epilepsy D005260:Female D005492:Folic Acid D005494:Folic Acid Deficiency D006801:Humans D008286:Malabsorption Syndromes D010198:Pancytopenia D058979:Proton-Coupled Folate Transporter D000084063:Reinfection
Hereditary folate malabsorption Macrocytic anemia Folinic acid SLC46A1 gene Intracranial calcification