METHODS: An 11.7-year-old boy presented with headache, vomiting, and altered consciousness. The patient was diagnosed with late-onset OTCD. After nitrogen scavenging treatment and a protein-free diet, ammonia levels were reduced to normal on the third day of admission. Nevertheless, the patient remained in a moderate coma. After discussion, LT was performed. Following LT, the patient\'s blood ammonia and biochemical indicators stabilized in the normal range, he regained consciousness, and his nervous system function significantly recovered. Two months after LT, blood amino acids and urine organic acids were normal, and brain magnetic resonance imaging showed a decrease in subcortical lesions.
CONCLUSIONS: LT can significantly improve partial neurological impairment caused by late-onset OTCD hyperammonemic encephalopathy, and LT can be actively considered when early drug therapy is ineffective.
方法:一名11.7岁男孩出现头痛,呕吐,和改变意识。患者被诊断为迟发性OTCD。经过氮清除处理和无蛋白质饮食,入院第三天,氨水平降至正常。然而,患者仍处于中度昏迷状态。经过讨论,LT进行。在LT之后,患者的血氨和生化指标稳定在正常范围内,他恢复了意识,他的神经系统功能明显恢复。LT术后两个月,血氨基酸和尿有机酸正常,脑磁共振成像显示皮质下病变减少。
结论:LT能明显改善迟发性OTCD高血氨脑病引起的部分神经功能缺损,当早期药物治疗无效时,可以积极考虑LT。