Abstract：
OBJECTIVE: Primary Coenzyme Q10 Deficiency-7 (OMIM 616276) results from bi-allelic pathogenic variants in the COQ4 gene. Common clinical findings include hypotonia, seizures, respiratory distress, and cardiomyopathy. In this report, we present two patients diagnosed with Primary Coenzyme Q10 Deficiency-7 along with a review of previously published cases, with the aim being to provide a better understanding of the clinical and laboratory manifestations of the disease.
METHODS: A 3-month-and-22-day-old male was admitted to our outpatient clinic due to poor feeding and restlessness. He was born following an uneventful pregnancy to a nonconsanguineous marriage. A physical examination revealed hypotonia, a dolichocephaly, periorbital edema, and long eyelashes. Blood tests revealed metabolic acidosis and elevated serum lactate levels, while the genetic analysis revealed a variant previously reported as pathogenic, c.437T>G (p.Phe146Cys), in the COQ4 gene. Genetic tests were also conducted on both mother and father, and it revealed heterozygous variant, 0.437T>G (p.Phe146Cys), in the COQ4 gene. As a result of these findings, the patient was diagnosed with neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (Primary Coenzyme Q10 Deficiency-7). A 1-year-old male was admitted to our clinic with complaints of hypotonia, seizures, and feeding difficulties. He was born following an uneventful pregnancy to a nonconsanguineous marriage. On his first day of life, he was admitted to the neonatal intensive care unit due to poor feeding and hypotonia. A physical examination revealed microcephaly, a high palate, poor feeding, weak crying, hypotonia, bilateral horizontal nystagmus, and inability to maintain eye contact. Laboratory findings were within normal limits, while a whole exome sequencing analysis revealed a homozygous variant previously reported as pathogenic, c.458C>T (p.A153V), in the COQ4 gene. The patient was diagnosed with Primary Coenzyme Q10 Deficiency-7.
CONCLUSIONS: Primary Coenzyme Q10 Deficiency-7 should be considered in the differential diagnosis of infants presenting with neurological and dysmorphic manifestations.
METHODS: A 3-month-and-22-day-old male was admitted to our outpatient clinic due to poor feeding and restlessness. He was born following an uneventful pregnancy to a nonconsanguineous marriage. A physical examination revealed hypotonia, a dolichocephaly, periorbital edema, and long eyelashes. Blood tests revealed metabolic acidosis and elevated serum lactate levels, while the genetic analysis revealed a variant previously reported as pathogenic, c.437T>G (p.Phe146Cys), in the COQ4 gene. Genetic tests were also conducted on both mother and father, and it revealed heterozygous variant, 0.437T>G (p.Phe146Cys), in the COQ4 gene. As a result of these findings, the patient was diagnosed with neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (Primary Coenzyme Q10 Deficiency-7). A 1-year-old male was admitted to our clinic with complaints of hypotonia, seizures, and feeding difficulties. He was born following an uneventful pregnancy to a nonconsanguineous marriage. On his first day of life, he was admitted to the neonatal intensive care unit due to poor feeding and hypotonia. A physical examination revealed microcephaly, a high palate, poor feeding, weak crying, hypotonia, bilateral horizontal nystagmus, and inability to maintain eye contact. Laboratory findings were within normal limits, while a whole exome sequencing analysis revealed a homozygous variant previously reported as pathogenic, c.458C>T (p.A153V), in the COQ4 gene. The patient was diagnosed with Primary Coenzyme Q10 Deficiency-7.
CONCLUSIONS: Primary Coenzyme Q10 Deficiency-7 should be considered in the differential diagnosis of infants presenting with neurological and dysmorphic manifestations.
摘要：
目的：初级辅酶Q10缺乏症-7（OMIM616276）来自COQ4基因的双等位基因致病变异。常见的临床表现包括低张力,癫痫发作,呼吸窘迫,和心肌病。在这份报告中,我们介绍了两名诊断为原发性辅酶Q10缺乏症-7的患者，以及对以前发表的病例的回顾，目的是更好地了解该疾病的临床和实验室表现。
方法：一名3个月22天大的男性因进食不良和躁动而进入我们的门诊。他是在顺利怀孕后出生的，没有血缘关系。体格检查显示肌张力减退,一个dolichocephaly,眶周水肿,和长长的睫毛。血液检查显示代谢性酸中毒和血清乳酸水平升高，虽然遗传分析揭示了以前报道的致病性变异，c.437T>G（p。Phe146Cys)，在COQ4基因中。还对母亲和父亲进行了基因测试，它揭示了杂合变异，0.437T>G（p。Phe146Cys)，在COQ4基因中。由于这些发现，患者被诊断为新生儿脑肌病-心肌病-呼吸窘迫综合征(原发性辅酶Q10缺乏症-7).一名1岁的男性因张力减退而被我们诊所收治，癫痫发作,和喂养困难。他是在顺利怀孕后出生的，没有血缘关系。在他生命的第一天，由于喂养不良和张力过低，他被送往新生儿重症监护室。体格检查发现小头畸形,高上颚，喂养不良,虚弱的哭泣，低张力,双侧水平眼震,无法保持眼神接触。实验室检查结果在正常范围内,而整个外显子组测序分析揭示了先前报道为致病性的纯合变体，c.458C>T（p。A153V),在COQ4基因中。患者被诊断为原发性辅酶Q10缺乏症-7。
结论：初级辅酶Q10缺乏-7在表现为神经和畸形表现的婴儿的鉴别诊断中应该考虑。
方法：一名3个月22天大的男性因进食不良和躁动而进入我们的门诊。他是在顺利怀孕后出生的，没有血缘关系。体格检查显示肌张力减退,一个dolichocephaly,眶周水肿,和长长的睫毛。血液检查显示代谢性酸中毒和血清乳酸水平升高，虽然遗传分析揭示了以前报道的致病性变异，c.437T>G（p。Phe146Cys)，在COQ4基因中。还对母亲和父亲进行了基因测试，它揭示了杂合变异，0.437T>G（p。Phe146Cys)，在COQ4基因中。由于这些发现，患者被诊断为新生儿脑肌病-心肌病-呼吸窘迫综合征(原发性辅酶Q10缺乏症-7).一名1岁的男性因张力减退而被我们诊所收治，癫痫发作,和喂养困难。他是在顺利怀孕后出生的，没有血缘关系。在他生命的第一天，由于喂养不良和张力过低，他被送往新生儿重症监护室。体格检查发现小头畸形,高上颚，喂养不良,虚弱的哭泣，低张力,双侧水平眼震,无法保持眼神接触。实验室检查结果在正常范围内,而整个外显子组测序分析揭示了先前报道为致病性的纯合变体，c.458C>T（p。A153V),在COQ4基因中。患者被诊断为原发性辅酶Q10缺乏症-7。
结论：初级辅酶Q10缺乏-7在表现为神经和畸形表现的婴儿的鉴别诊断中应该考虑。
