Abstract
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.
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The authors thank Bione Ventures Pvt. Ltd. for performing genetic testing for free of cost.
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VKG: Supervision, guidance and reviewed the manuscript; MB was involved in the management of the child and the preparation of manuscript; SKS has given valuable inputs in the management of this child; NB was involved in the diagnosis and management of the child. VKG will act as guarantor for this paper.
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Gowda, V.K., Battina, M., Shivappa, S.K. et al. Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant. Indian J Pediatr 88, 586–588 (2021). https://doi.org/10.1007/s12098-020-03548-w
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DOI: https://doi.org/10.1007/s12098-020-03548-w