肝移植治疗克里格勒-纳贾尔综合征Ⅰ型。
Liver transplantation in Crigler-Najjar syndrome type I disease.
机构信息
Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Key Laboratory of Combined Multi-Organ Transplantation, Ministry of Public Health & Key Laboratory of Organ Transplantation of Zhejiang Province, Hangzhou 310003, China.
出版信息
Hepatobiliary Pancreat Dis Int. 2012 Oct;11(5):545-8. doi: 10.1016/s1499-3872(12)60222-7.
BACKGROUND
Crigler-Najjar syndrome type I (CNS I) is a very rare autosomal recessive inherited disease that liver transplantation can properly deal with.
METHODS
We present one case of an 18-month-old child with CNS I diagnosed by clinical findings and genetic detecting. LTx was performed 5 days after kernicterus broke out and neurological symptoms were successfully reversed.
RESULT
Magnetic resonance imaging and magnetic resonance spectroscopy showed encouraging results that brain pathology had a trend to return to normal in 1-year follow-up, combined with electroencephalogram and motor development estimate studies.
CONCLUSIONS
Liver transplantation can cure CNS I with reversible neurological symptoms to some extent in time. Magnetic resonance spectroscopy may be a future option of predicting brain conditions and selecting suitable patients with CNS I for transplantation.
背景
克里格勒-纳贾尔综合征 I 型（CNS I）是一种非常罕见的常染色体隐性遗传性疾病，肝移植可以很好地治疗。
方法
我们报告了一例 18 个月大的 CNS I 患儿，通过临床发现和基因检测进行诊断。在核黄疸发作后 5 天进行了肝移植，成功逆转了神经症状。
结果
磁共振成像和磁共振波谱显示出令人鼓舞的结果，在 1 年随访中，脑病理学有恢复正常的趋势，结合脑电图和运动发育评估研究。
结论
肝移植可以在一定程度上及时治愈具有可逆性神经症状的 CNS I。磁共振波谱可能是预测脑状况并选择合适 CNS I 患者进行移植的未来选择。
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