Yoganathan Sangeetha, Sudhakar Sniya Valsa, Arunachal Gautham, Thomas Maya, Subramanian Annadurai, George Renu, Danda Sumita
Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
Department of Radiodiagnosis, Christian Medical College, Vellore, Tamil Nadu, India.
Ann Indian Acad Neurol. 2017 Jan-Mar;20(1):62-68. doi: 10.4103/0972-2327.199907.
Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in gene. Depending on the residual activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers. However, on rare occasions, females may manifest with classical clinical phenotype due to skewed X-chromosome inactivation, X-autosome translocation, and XO genotype. Here, we describe a small series of probands with MD and their response to copper histidine therapy. This series also includes a female with X-13 translocation manifesting neurological symptoms.
The clinical profile, laboratory and radiological data, and follow-up of four children with MD were collected from the hospital database and are being presented.
All the four children in our series had developmental delay, recurrent respiratory tract infections, hair and skeletal changes, axial hypotonia, tortuous vessels on imaging, low serum copper, ceruloplasmin, and elevated lactate. Fetal hypokinesia and fetal growth retardation were present in two cases. Failure to thrive was present in three children and only one child had epilepsy. Subcutaneous copper histidine was administered to all children. The average time lapse in the initiation of treatment was 20.3 months, and average duration of follow-up was 14.3 months.
We conclude that copper histidine therapy is beneficial in reversing the skin and hair changes, improving appendicular tone, socio-cognitive milestones, and improving weight gain, and immunity. Early diagnosis and management of MD are essential to have a better clinical outcome. More research is needed to explore and devise new strategies in the management of patients with MD.
门克斯病（MD）是一种由基因 突变引起的X连锁隐性神经退行性疾病。根据残余 活性，临床表现可能为典型的MD、枕角综合征或远端运动神经病。预计女性携带者不会出现神经系统症状。然而，在极少数情况下，女性可能由于X染色体失活偏斜、X-常染色体易位和XO基因型而表现出典型的临床表型。在此，我们描述了一小系列MD先证者及其对组氨酸铜治疗的反应。该系列还包括一名表现出神经系统症状的X-13易位女性。
从医院数据库中收集了4例MD患儿的临床资料、实验室和影像学数据以及随访情况并进行展示。
我们系列中的所有4例患儿均有发育迟缓、反复呼吸道感染、毛发和骨骼改变、轴性肌张力低下、影像学上血管迂曲、血清铜、铜蓝蛋白降低以及乳酸升高。2例患儿有胎儿运动减少和胎儿生长受限。3例患儿有生长发育不良，只有1例患儿有癫痫。所有患儿均接受了皮下注射组氨酸铜治疗。开始治疗的平均时间间隔为20.3个月，平均随访时间为14.3个月。
我们得出结论，组氨酸铜治疗有助于逆转皮肤和毛发改变，改善肢体肌张力、社会认知里程碑，并改善体重增加和免疫力。MD的早期诊断和管理对于获得更好的临床结果至关重要。需要更多研究来探索和制定MD患者管理的新策略。
