Noureen Nuzhat, Rana Muhammad Tariq
Department of Paediatrics, Nishtar Hospital, Multan, Pakistan.
J Pak Med Assoc. 2011 Aug;61(8):743-8.
To describe the neurological manifestations, results of investigations and response to treatment in Wilson disease in children from Multan.
This cross sectional study was conducted at Neurology Department of Children Hospital and Institute of Child Health Multan from June 2005 to May 2008. Fifty children were included in this study. Age at onset of symptoms, sex, duration of symptoms, presenting complaints, consanguinity among parents, family history and response to treatment was noted. Chi square test was used to measure relationship between variables and response to treatment. P value of less than 0.05 was taken as significant.
Of the 50 cases studied, 48 were index cases and two were diagnosed on screening. Male female ratio was 2.1:1. Mean age at onset of symptoms was 9.06 +/- 2.65 years. Dystonia, dysarthria and cognitive decline was seen in 92%, drooling in 68%, tremors in 52%, chorea in 24% and seizures in 12% of children. Kayser Fleischer rings and elevated 24 hours urinary copper after penicillamine challenge, 1567 +/- 167.35 microg/day was present in all 50 children. Twenty two (44%) children showed early response, 24 (48%) late response and 4 (8%) children showed no response after one year of treatment. Late, greater than 10 years of age at onset of symptoms, less than 6 months duration of symptoms and urinary copper excretion of less than 1000 microg/day were found statistically significant factors for early response to treatment.
In the study population, dystonia, dysarthria and cognitive decline were the commonest presentations. Twenty four hour urinary copper was found helpful for diagnosis. Penicillamine was found to be an effective drug for treatment as overall response was noted in 92% of children.
描述木尔坦地区儿童威尔逊病的神经学表现、检查结果及治疗反应。
本横断面研究于2005年6月至2008年5月在木尔坦儿童医院及儿童健康研究所神经科进行。本研究纳入了50名儿童。记录症状出现时的年龄、性别、症状持续时间、就诊主诉、父母近亲关系、家族史及治疗反应。采用卡方检验来衡量变量与治疗反应之间的关系。P值小于0.05被视为具有统计学意义。
在研究的50例病例中，48例为索引病例，2例通过筛查确诊。男女比例为2.1:1。症状出现时的平均年龄为9.06±2.65岁。92%的儿童出现肌张力障碍、构音障碍和认知下降，68%的儿童流涎，52%的儿童震颤，24%的儿童舞蹈症，12%的儿童癫痫发作。所有50名儿童均出现凯-弗环及青霉胺激发试验后24小时尿铜升高，为1567±167.35微克/天。22名（44%）儿童显示早期反应，24名（48%）儿童显示晚期反应，4名（8%）儿童在治疗一年后无反应。症状出现时年龄大于10岁、症状持续时间小于6个月以及尿铜排泄量小于1000微克/天被发现是治疗早期反应的统计学显著因素。
在研究人群中，肌张力障碍、构音障碍和认知下降是最常见的表现。发现24小时尿铜有助于诊断。发现青霉胺是一种有效的治疗药物，因为92%的儿童有总体反应。
