{Reference Type}: Case Reports
{Title}: Hereditary Folate Malabsorption presenting as neutropenic fever in a newborn from the first Palestinian family with the novel SLC46A1-mutation, A-case-report.
{Author}: Sarhan FMA;Jobran AWM;Mansour IIA;Dukmak ON;Rashed MAM;Hamdan DMA;Abdalhadi IAA;Sarhan FMA;Jobran AWM;Mansour IIA;Dukmak ON;Rashed MAM;Hamdan DMA;Abdalhadi IAA;
{Journal}: Ann Med Surg (Lond)
{Volume}: 80
{Issue}: 0
{Year}: Aug 2022
暂无{DOI}: 10.1016/j.amsu.2022.104253
{Abstract}: <B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.