Abstract：
Combined oxidative phosphorylation deficiency-1 (COXPD1) resulting from a mutation in the G elongation factor mitochondrial 1 (GFM1) gene is an autosomal recessive multisystem disorder arising from a defect in the mitochondrial oxidative phosphorylation system. Death usually appears in the first weeks or years of lifespan.
We report a male patient with ventriculomegaly diagnosed in the 8th month of pregnancy. The delivery was done by caesarean section and respiratory failure occurred immediately after birth. Hypoglycemia, lactic acidosis, elevated gamma-glutamyl transferase and hepatomegaly were confirmed. The brain MRI detected hypoplasia of the cerebellar hemispheres, dilated lateral ventricles, and markedly immature brain parenchyma. Epilepsy had been present since the third month. At 5 months of age, neurological follow-up showed his head circumference to be 37 cm, with plagiocephaly, a low hairline, a short neck, axial hypotonia and he did not adopt any developmental milestones. A genetic mutation, a missense variant in the GFM1 gene, was confirmed: c.748C > T (p.Arg250Trp) was homozygous in the GFM1 gene.
To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.
We report a male patient with ventriculomegaly diagnosed in the 8th month of pregnancy. The delivery was done by caesarean section and respiratory failure occurred immediately after birth. Hypoglycemia, lactic acidosis, elevated gamma-glutamyl transferase and hepatomegaly were confirmed. The brain MRI detected hypoplasia of the cerebellar hemispheres, dilated lateral ventricles, and markedly immature brain parenchyma. Epilepsy had been present since the third month. At 5 months of age, neurological follow-up showed his head circumference to be 37 cm, with plagiocephaly, a low hairline, a short neck, axial hypotonia and he did not adopt any developmental milestones. A genetic mutation, a missense variant in the GFM1 gene, was confirmed: c.748C > T (p.Arg250Trp) was homozygous in the GFM1 gene.
To the best of our knowledge, 28 cases of COXPD1 disease caused by mutations in the GFM1 gene have been described in the literature. COXPD1 should be considered due to symptoms and signs which begin during intrauterine life or at birth. Signs of impaired energy metabolism should indicate that the disease is in the group of metabolic encephalopathies.
摘要：
背景：由G延伸因子线粒体1（GFM1）基因突变导致的联合氧化磷酸化缺陷-1（COXPD1）是一种由线粒体氧化磷酸化系统缺陷引起的常染色体隐性多系统疾病。死亡通常出现在生命的最初几周或几年。
方法：我们报告一名男性患者，在妊娠第8个月确诊为脑室增宽。剖宫产分娩，出生后立即发生呼吸衰竭。低血糖,乳酸性酸中毒,已证实γ-谷氨酰转移酶升高和肝肿大.脑部MRI检测到小脑半球发育不全，侧脑室扩张,和明显不成熟的脑实质。癫痫自第三个月以来一直存在。在5个月大的时候，神经系统随访显示他的头围为37厘米，有尖头畸形，低发际线,短脖子,轴向低张力，他没有采用任何发展里程碑。一个基因突变,GFM1基因的错义变异,确认：c.748C>T（p。Arg250Trp）在GFM1基因中是纯合的。
结论：据我们所知，文献中已经描述了28例由GFM1基因突变引起的COXPD1疾病。由于在子宫内或出生时开始的症状和体征，应考虑COXPD1。能量代谢受损的迹象应表明该疾病属于代谢性脑病。
方法：我们报告一名男性患者，在妊娠第8个月确诊为脑室增宽。剖宫产分娩，出生后立即发生呼吸衰竭。低血糖,乳酸性酸中毒,已证实γ-谷氨酰转移酶升高和肝肿大.脑部MRI检测到小脑半球发育不全，侧脑室扩张,和明显不成熟的脑实质。癫痫自第三个月以来一直存在。在5个月大的时候，神经系统随访显示他的头围为37厘米，有尖头畸形，低发际线,短脖子,轴向低张力，他没有采用任何发展里程碑。一个基因突变,GFM1基因的错义变异,确认：c.748C>T（p。Arg250Trp）在GFM1基因中是纯合的。
结论：据我们所知，文献中已经描述了28例由GFM1基因突变引起的COXPD1疾病。由于在子宫内或出生时开始的症状和体征，应考虑COXPD1。能量代谢受损的迹象应表明该疾病属于代谢性脑病。
