儿童神经系统遗传代谢病临床及影像学特点

Clinical and imaging characteristics of children＇s nervous system inherited metabolic disease

目的总结儿童神经系统遗传代谢病的临床表现及影像学特点，加强临床医生对于该病的认识。方法应用气相色谱一质谱联用仪（GC／MS）技术对中国医科大学盛京医院儿科自2011年1月至8月收治的100例可疑患儿进行遗传代谢病筛查，并对其临床症状及影像学特点进行回顾性归纳总结。结果7例患儿筛查出阳性结果，其中戊二酸血症I型3例，甲基丙二酸血症2例，尿素循环障碍l例，肉碱棕榈酰转移酶I缺乏症1例。患儿遗传代谢病的临床表现不典型，可表现为惊厥、智力低下、精神运动障碍、酸中毒、频繁呕吐、行为异常等。影像学特点根据疾病类型不同表现各异。结论以多发性神经病为主要症状的患儿经影像学及脑脊液等检查除外小儿神经系统常见疾病后。应进一步考虑遗传代谢病的可能性。早期诊断及治疗对于改善患儿预后有重要意义。

Objective To explore the characteristics of clinical symptoms and image materials in pediatric patients with inherited metabolic disease of nervous system and to enhance the understanding of paediatrician for the disease. Methods One hundred candidates with inherited metabolic disease, admitted to our hospital from January 2011 to August 2011, were screened by using gas chromatography-mass spectrometry （GC-MS）. The clinical symptoms and imaging features of the patients were retrospectively analyzed. Results Seven patients suspected as having inherited metabolic disease were confirmed, including 3 glutaric academia type I, 2 methylmalonic acidemia, 1 urea cycle disorders, and 1 camitine palmitoyl transferase deficiency. Atypical clinical manifestations of inherited metabolic disease were noted as seizures, mental retardation, psychomotor impairment, acidosis, fi＇equent vomiting and abnormal behavior. Conclusion Children having symptoms of polyneuropathy should be considered as having inherited metabolic disease in the case of elimination of common diseases in the nervous ststem; early diagnosis and adequate treatment contribute a lot to improve the neurological prognosis of the patients.