UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
未经证实:有家族HFM病史的3个月大男孩因持续疲劳而就诊,黄色变色,拒绝进食,和全血细胞减少症.患者接受3包红细胞(RBC)。收到3包红细胞后五天,患者出现38.3摄氏度的发烧并伴有全血细胞减少症。患者的所有免疫球蛋白水平较低。他开始使用广谱抗生素。测试HFM的SLC46A1基因突变,是积极的。患者开始接受亚叶酸和呼吸。
UNASSIGNED:在这种情况下,HFM表现为中性粒细胞减少症,低免疫球蛋白血症,低血清叶酸,同型半胱氨酸升高,和SLC46A1上的阳性突变。HFM具有广泛的表现,包括血液学,神经学,免疫学和胃肠道。治疗包括以口服或肌内注射的方式施用亚叶酸。
未经证实:HFM可表现为中性粒细胞减少性发热。当患者的症状在大量系统中变化时,应保持高的悬浮指数。当父母都携带常染色体隐性等位基因时,需要遗传咨询。