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

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 famili...

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Detalles Bibliográficos
Autores principales: Sarhan, Fajr M.A., Jobran, Afnan W.M., Mansour, Islam I.A., Dukmak, Osama N., Rashed, Mohammed A.M., Hamdan, Dina M.A., Abdalhadi, Israa A.A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422282/
https://www.ncbi.nlm.nih.gov/pubmed/36045837
http://dx.doi.org/10.1016/j.amsu.2022.104253
Descripción
Sumario: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.