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; Afnan W M Jobran; Islam I A Mansour; Osama N Dukmak; Mohammed A M Rashed; Dina M A Hamdan; Israa A A Abdalhadi

doi:10.1016/j.amsu.2022.104253

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

Ann Med Surg (Lond). 2022 Jul 31:80:104253. doi: 10.1016/j.amsu.2022.104253. eCollection 2022 Aug.

Authors

Fajr M A Sarhan¹, Afnan W M Jobran¹, Islam I A Mansour¹, Osama N Dukmak¹, Mohammed A M Rashed¹, Dina M A Hamdan¹, Israa A A Abdalhadi¹

Affiliation

¹ Faculty of Medicine, Al Quds University, Jerusalem, Palestine Faculty of Medicine, Al Quds University, Jerusalem, Palestine.

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.

Publication types

Case Reports