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目的通过少见的儿童肾上腺脑白质营养不良病例报道,引起同行对该病的认识和重视。方法对儿童X连锁肾上腺脑白质营养不良病例进行回顾性分析并文献复习。结果经过临床物理检查及仪器辅助检查,确诊该病儿为X连锁肾上腺脑白质营养不良病患者。结论 X连锁肾上腺脑白质营养不良病临床表现复杂多样,关键是遇到惊厥的患儿要考虑本病可能,同时还要结合头颅MRI检查及基因检测进行综合分析才能做出正确诊断,本病死亡率高,缺乏有效的治疗方法。应尽早发现,以期得到早期诊断与早期干预。
Objective Through rare cases of adrenoleukodystrophy in children, causing peer awareness and attention to the disease. Methods Retrospective analysis and literature review of cases of X-linked adrenoleukodystrophy in children. Results of clinical physical examination and laboratory tests to confirm the disease is X-linked adrenoleukodystrophy patients. Conclusions The clinical manifestations of X-linked adrenoleukodystrophy are complex and diverse. The key point is that children with convulsions should consider the possibility of this disease, combined with the comprehensive analysis of cranial MRI and genetic testing in order to make a correct diagnosis, the disease died High rate, the lack of effective treatment. Should be found as soon as possible, in order to get early diagnosis and early intervention.