Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorpt
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CLINICAL BRIEF
Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant Vykuntaraju K. Gowda 1
&
Manojna Battina 1 & Sanjay K. Shivappa 2 & Naveen Benakappa 2
Received: 11 April 2020 / Accepted: 14 October 2020 # Dr. K C Chaudhuri Foundation 2020
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. Keywords Hereditary folate malabsorption . Macrocytic anemia . Intracranial calcification . SLC46A1 gene . Folinic acid
Introduction Hereditary folate malabsorption (HFM) is an autosomal recessive disorder characterized by proton-coupled folate transporter (PCFT) deficiencies that cause impaired intestinal folate absorption and impaired folate transport into the central nervous system (CNS) [1]. It is due to mutations of the SLC46A1 gene [2]. The prevalence of this rare disorder is less than 1 per 10,00,000. HFM is characterized by features of folate deficiency in early infancy and if not treated early, can lead to permanent neurological sequalae. Hence, authors are reporting this treatable condition.
Case Report A five-year-old girl second born to consanguineous parents with uneventful perinatal history, presented from four months * Vykuntaraju K. Gowda [email protected] 1
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka 560029, India
2
Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India
of age with recurrent infection, oral ulcers, pancytopenia, and refractory seizures. She had a global developmental delay in all domains; attained walking, pincer grasp, used to follow one-step commands, and spoke a few words with meaning by 18 mo of age. Elder sibling with similar complaints had expired at 5 mo of age. On examination, weight − 18 kg (Z score of −0.81), height − 109 cm (Z score − 1.07), head circumference- 45 cm (Z score − 5.33), poor eye contact, spasticity with the power of 3/5, and dystonia. On investigation, hemoglobin- 3.5 g/dl, total counts- 3400 cells/mm3, platelets- 5000 cells/mm3. The mean corpuscular volume (MCV)- 105 and mean corpuscular hemoglobin (MCH)- 32, were increased. The periphe
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