Abstract：
BACKGROUND: Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), also known as Glutaric Aciduria Type II, is an exceptionally rare autosomal recessive genetic disorder that disrupts the metabolism of fatty acids, amino acids, and choline. It presents with a wide range of clinical manifestations, from severe neonatal-onset forms to milder late-onset cases, with symptoms including metabolic disturbances and muscle weakness. Jordan\'s anomaly is a distinctive morphological feature found in peripheral blood white cells and is typically associated with Neutral Lipid Storage Disease (NLSD).
METHODS: In our case report, the patient initially presented with symptoms of vomiting, abdominal pain, and altered consciousness. The presence of white cell Jordan\'s anomaly was detected in the blood smear. Subsequent serum tests revealed elevated levels of transaminases, creatine kinase, uric acid, and multiple acylcarnitines, while blood glucose and free carnitine levels were notably reduced. High-throughput sequencing confirmed heterozygous pathogenic variants in the electron-transferring flavoprotein dehydrogenase (ETFDH) gene, leading to the conclusive diagnosis of MADD. Following a three-month treatment regimen involving high-dose vitamin B2, coenzyme Q10, and other supportive interventions, the patient exhibited significant clinical improvement, ultimately resulting in discharge.
CONCLUSIONS: The identification of Jordan\'s anomaly in a pediatric patient with late-onset MADD sheds light on its broader implications within the realm of lipid storage myopathies. The significance of this finding extends beyond its conventional association with NLSD, challenging the notion of its exclusivity. This novel observation serves as a compelling reminder of the diagnostic significance this morphological abnormality holds, potentially revolutionizing diagnostic practices within the field.
METHODS: In our case report, the patient initially presented with symptoms of vomiting, abdominal pain, and altered consciousness. The presence of white cell Jordan\'s anomaly was detected in the blood smear. Subsequent serum tests revealed elevated levels of transaminases, creatine kinase, uric acid, and multiple acylcarnitines, while blood glucose and free carnitine levels were notably reduced. High-throughput sequencing confirmed heterozygous pathogenic variants in the electron-transferring flavoprotein dehydrogenase (ETFDH) gene, leading to the conclusive diagnosis of MADD. Following a three-month treatment regimen involving high-dose vitamin B2, coenzyme Q10, and other supportive interventions, the patient exhibited significant clinical improvement, ultimately resulting in discharge.
CONCLUSIONS: The identification of Jordan\'s anomaly in a pediatric patient with late-onset MADD sheds light on its broader implications within the realm of lipid storage myopathies. The significance of this finding extends beyond its conventional association with NLSD, challenging the notion of its exclusivity. This novel observation serves as a compelling reminder of the diagnostic significance this morphological abnormality holds, potentially revolutionizing diagnostic practices within the field.
摘要：
背景：多酰基辅酶A脱氢酶缺乏症（MADD），也被称为戊二酸Ⅱ型，是一种异常罕见的常染色体隐性遗传疾病，会破坏脂肪酸的代谢，氨基酸,还有胆碱.它具有广泛的临床表现，从严重的新生儿发作形式到轻度的迟发性病例，症状包括代谢紊乱和肌肉无力。Jordan的异常是在外周血白细胞中发现的独特形态特征，通常与中性脂质贮积病（NLSD）有关。
方法：在我们的案例报告中，患者最初出现呕吐症状，腹痛,和改变意识。在血液涂片中检测到白细胞乔丹异常的存在。随后的血清测试显示转氨酶水平升高，肌酸激酶，尿酸,和多种酰基肉碱,而血糖和游离肉碱水平显着降低。高通量测序证实了电子转移黄素蛋白脱氢酶（ETFDH）基因中的杂合致病变异，导致MADD的确诊。经过三个月的治疗方案，包括高剂量维生素B2，辅酶Q10和其他支持性干预措施，患者表现出显著的临床改善，最终导致放电。
结论：在患有晚发性MADD的儿科患者中对Jordan异常的鉴定揭示了其在脂质贮积性肌病领域的更广泛意义。这一发现的意义超出了其与NLSD的常规联系，挑战其排他性的概念。这一新颖的观察结果令人信服地提醒了这种形态异常的诊断意义，该领域内潜在的革命性诊断实践。
方法：在我们的案例报告中，患者最初出现呕吐症状，腹痛,和改变意识。在血液涂片中检测到白细胞乔丹异常的存在。随后的血清测试显示转氨酶水平升高，肌酸激酶，尿酸,和多种酰基肉碱,而血糖和游离肉碱水平显着降低。高通量测序证实了电子转移黄素蛋白脱氢酶（ETFDH）基因中的杂合致病变异，导致MADD的确诊。经过三个月的治疗方案，包括高剂量维生素B2，辅酶Q10和其他支持性干预措施，患者表现出显著的临床改善，最终导致放电。
结论：在患有晚发性MADD的儿科患者中对Jordan异常的鉴定揭示了其在脂质贮积性肌病领域的更广泛意义。这一发现的意义超出了其与NLSD的常规联系，挑战其排他性的概念。这一新颖的观察结果令人信服地提醒了这种形态异常的诊断意义，该领域内潜在的革命性诊断实践。
