Department of General Pediatrics, University Children's Hospital, Moorenstrasse 5, 40225, Düsseldorf, Germany.
J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S223-5. doi: 10.1007/s10545-008-0807-z. Epub 2008 May 20.
Neurological crises do not occur in patients with tyrosinaemia type I treated with NTBC. We report an 8 month-old boy with severe neurological crisis after interruption of NTBC treatment including progressive ascending polyneuropathy and diaphragmatic paralysis, arterial hypertension, respiratory distress requiring mechanical ventilation who later also developed impaired liver function and tubulopathy. After re-introduction of NTBC the patient slowly regained normal neurological functions and recovered completely.
神经危象不会发生在接受 NTBC 治疗的酪氨酸血症 I 型患者中。我们报告了一例 8 月龄男孩，在中断 NTBC 治疗后出现严重的神经危象，包括进行性上升性多发性神经病和膈肌麻痹、动脉高血压、需要机械通气的呼吸窘迫，后来还出现肝功能和肾小管病受损。重新引入 NTBC 后，患者的神经功能逐渐恢复正常并完全康复。
