Case of Mitochondrial Encephalomyopathy secondary to COVID-19 in a Pediatric case of SIFD syndrome with a novel TRNT1 mutation

Amer Khojah , Lauren Gunderman , Ameera Bukhari , Aisha Mirza , Madeline Schutt , Aisha Ahmed
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Abstract

Syndrome of Congenital Sideroblastic Anemia, B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD) is caused by mutations in the tRNA nucleotidyltransferase 1 (TRNT1) gene. We present the case of a 13-month-old boy with developmental delay, microcytic anemia, and recurrent febrile illnesses. Immunological workup revealed B cell lymphopenia. Whole exome sequencing identified two novel heterozygous mutations in the TRNT1 gene (Thr49Fs and Ile122Thr). Our patient had a milder phenotype than previously reported cases of sideroblastic anemia. However, he developed left ventricular dilated cardiomyopathy at the age of 2 years. At the age of 5 years, COVID-19 infection resulted in mitochondrial encephalomyopathy and respiratory failure. Subsequent immunology evaluation revealed low IgG levels, prompting the initiation of immunoglobulin replacement therapy. This case highlights the importance of genetic testing in multisystem disorders and the variable clinical course in SIFD patients. Additionally, it emphasizes the unique susceptibility to COVID-19 due to immunodeficiency and mitochondrial defects.

一例继发于 COVID-19 的线粒体脑肌病病例,患儿患有新型 TRNT1 突变的 SIFD 综合征
先天性红细胞性贫血、B 细胞免疫缺陷、周期性发热和发育迟缓综合征(SIFD)是由 tRNA 核苷酸转移酶 1(TRNT1)基因突变引起的。本病例是一名 13 个月大的男孩,患有发育迟缓、小红细胞性贫血和反复发热。免疫学检查发现他患有 B 细胞淋巴细胞减少症。全外显子测序发现了 TRNT1 基因的两个新型杂合突变(Thr49Fs 和 Ile122Thr)。与之前报道的红细胞性贫血病例相比,我们的患者表型较轻。然而,他在两岁时就患上了左心室扩张型心肌病。5 岁时,COVID-19 感染导致线粒体脑肌病和呼吸衰竭。随后进行的免疫学评估发现,该患儿的 IgG 水平较低,因此启动了免疫球蛋白替代疗法。本病例强调了基因检测在多系统疾病中的重要性,以及 SIFD 患者多变的临床病程。此外,该病例还强调了由于免疫缺陷和线粒体缺陷导致的对 COVID-19 的独特易感性。
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