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Case Reports
. 2022 Jul 31:80:104253.
doi: 10.1016/j.amsu.2022.104253. eCollection 2022 Aug.

Hereditary Folate Malabsorption presenting as neutropenic fever in a newborn from the first Palestinian family with the novel SLC46A1-mutation, A-case-report

Fajr M A Sarhan  1 , Afnan W M Jobran  1 , Islam I A Mansour  1 , Osama N Dukmak  1 , Mohammed A M Rashed  1 , Dina M A Hamdan  1 , Israa A A Abdalhadi  1
Affiliations
Case Reports

Hereditary Folate Malabsorption presenting as neutropenic fever in a newborn from the first Palestinian family with the novel SLC46A1-mutation, A-case-report

Fajr M A Sarhan et al. Ann Med Surg (Lond). .

Abstract

Introduction and importance: Hereditary Folate Malabsorption (HFM) is an extremely rare autosomal recessive disorder with in the existence of only 30 families world-wide. It presents with hematological, gastrointestinal, and neurological problems.

Case presentation: Three-month-old-boy with a familial history of HFM presented to the clinic due to persistent fatigue, yellowish discoloration, feeding refusal, and pancytopenia. The patient received 3 packs of Red Blood Cells (RBCs). Five days after received 3 packs of RBCs, the patient presented with a fever of 38.3 Celsius with pancytopenia. The patient had low level of all immunoglobulins. He was started on broad-spectrum antibiotics. Testing for the HFM's SLC46A1 gene mutation, was positive. The patient was started on Leucovorin and Respirm.

Clinical discussion: In this case, HFM presented as a neutropenic fever, hypoimmunoglobulinemia, low serum folate, elevated homocysteine, and a positive mutation on the SLC46A1. HFM has a wide-spectrum of presentations which includes hematological, neurological, immunological and gastrointestinal. Treatment involves the administration of folinic acid in either oral or intramuscular injections.

Conclusion: HFM can present as neutropenic fever. High index of suspension is to be maintained when the presenting symptoms of the patients vary over a large number of systems. Genetic counseling is needed for parents when both are carrying an autosomal recessive allele.

Keywords: Case report; Genetic mutations; Hereditary folate malabsorption; Pancytopenia.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Fig. 1
Fig. 1
Shows the patient's hemoglobin levels during a six-month treatment period.
Fig. 2
Fig. 2
Shows the patient's folate levels during a six-month treatment period.
Fig. 3
Fig. 3
Shows the patient's homocysteine levels during a six-month treatment period.
Fig. 4
Fig. 4
Shows the patient's platelets levels during a six-month treatment period.
Fig. 5
Fig. 5
Shows the patient's WBCs levels during a six-month treatment period.
See this image and copyright information in PMC

References

    1. Stover P.J. Physiology of folate and vitamin B12 in health and disease. Nutr. Rev. 2004 Jun;62(6 Pt 2):S3–S12. doi: 10.1111/j.1753-4887.2004.tb00070.x. PMID: 15298442. ; discussion S13. - DOI - PubMed
    1. Zhao R., Goldman I.D. The proton-coupled folate transporter: physiological and pharmacological roles. Curr. Opin. Pharmacol. 2013;13(6):875–880. doi: 10.1016/j.coph.2013.09.011. - DOI - PMC - PubMed
    1. Tan Jianmin, Li Xiujuan, Guo Yi, Xie Lingling, Wang Juan, Ma Jiannan, Jiang Li. Hereditary folate malabsorption with a novel mutation on SLC46A1. Medicine. 2017;96(50):e8712. doi: 10.1097/MD.0000000000008712. December. - DOI - PMC - PubMed
    1. Wang Q., Li X., Ding Y., Liu Y., Qin Y., Yang Y. The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1. Brain Dev. 2015 Jan;37(1):163–167. doi: 10.1016/j.braindev.2014.01.010. Epub 2014 Feb 15. PMID: 24534056. - DOI - PubMed
    1. Hereditary folate malabsorption - about the disease. Genetic and Rare Diseases Information Center Available at: https://rarediseases.info.nih.gov/diseases/12983/hereditary-folate-malab....

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