PDF(Pubmed)
Abstract：
BACKGROUND: Menkes disease (MD) is a rare, inherited, multisystemic copper metabolism disorder. Classical Menkes disease is characterized by low serum copper and ceruloplasmin concentrations, leading to multiple abnormalities in the whole-body, especially in connective tissue and central nervous system. However, serum copper and ceruloplasmin levels are not reliable diagnostic biomarkers due to the low concentrations in healthy newborns either. The featured imaging manifestations play an important role in diagnosing Menkes disease. To our knowledge, there are few reports on the systemic imaging manifestations of Menkes disease.
METHODS: A 4-month-old male patient presented with recurrent seizures. He had cognitive, intellectual, growth, gross motor, precision movement, and language developmental lags. The patient\'s hemoglobin and serum ceruloplasmin level were low. On MRI, increased intracranial vascular tortuosity, cerebral and cerebellar atrophy, white matter changes, and basal ganglia abnormalities were observed. Plain radiograph revealed wormian bones, rib flaring, metaphyseal spurring, and periosteal reactions in the long bones of the limbs. A pathogenic variant in ATP7A gene was identified in the patient, so he was confirmed the diagnosis of Menkes disease. His symptoms did not improve despite symptomatic and supportive treatment during his hospitalization. Unfortunately, the infant died 3 months after leaving hospital.
CONCLUSIONS: A comprehensive and intuitive understanding of the disease\'s imaging manifestations can help clinicians to identify the disease and avoid delays in care.
METHODS: A 4-month-old male patient presented with recurrent seizures. He had cognitive, intellectual, growth, gross motor, precision movement, and language developmental lags. The patient\'s hemoglobin and serum ceruloplasmin level were low. On MRI, increased intracranial vascular tortuosity, cerebral and cerebellar atrophy, white matter changes, and basal ganglia abnormalities were observed. Plain radiograph revealed wormian bones, rib flaring, metaphyseal spurring, and periosteal reactions in the long bones of the limbs. A pathogenic variant in ATP7A gene was identified in the patient, so he was confirmed the diagnosis of Menkes disease. His symptoms did not improve despite symptomatic and supportive treatment during his hospitalization. Unfortunately, the infant died 3 months after leaving hospital.
CONCLUSIONS: A comprehensive and intuitive understanding of the disease\'s imaging manifestations can help clinicians to identify the disease and avoid delays in care.
摘要：
背景：门克斯病（MD）是一种罕见的疾病，继承,多系统铜代谢紊乱.经典Menkes病的特征是血清铜和铜蓝蛋白浓度低，导致全身多种异常，特别是在结缔组织和中枢神经系统。然而,血清铜和铜蓝蛋白水平也不是可靠的诊断生物标志物，因为健康新生儿的浓度较低。特征性影像学表现在Menkes病的诊断中起着重要作用。据我们所知,关于Menkes病的全身影像学表现的报道很少。
方法：一名4个月大的男性患者反复发作。他有认知能力，知识分子,增长,毛马达，精密运动,和语言发展滞后。患者的血红蛋白和血清铜蓝蛋白水平较低。核磁共振成像,颅内血管弯曲增加，大脑和小脑萎缩,白质变化,并观察到基底神经节异常。平片显示虫骨，肋骨扩口,干phy端刺激，和四肢长骨的骨膜反应。在患者中鉴定出ATP7A基因的致病变异，所以他被确诊为门克斯病.尽管在住院期间进行了对症和支持治疗，但他的症状并未改善。不幸的是,婴儿在出院3个月后死亡。
结论：全面、直观地了解本病的影像学表现，有助于临床医师明确本病，避免延误护理。
方法：一名4个月大的男性患者反复发作。他有认知能力，知识分子,增长,毛马达，精密运动,和语言发展滞后。患者的血红蛋白和血清铜蓝蛋白水平较低。核磁共振成像,颅内血管弯曲增加，大脑和小脑萎缩,白质变化,并观察到基底神经节异常。平片显示虫骨，肋骨扩口,干phy端刺激，和四肢长骨的骨膜反应。在患者中鉴定出ATP7A基因的致病变异，所以他被确诊为门克斯病.尽管在住院期间进行了对症和支持治疗，但他的症状并未改善。不幸的是,婴儿在出院3个月后死亡。
结论：全面、直观地了解本病的影像学表现，有助于临床医师明确本病，避免延误护理。
