脑桥功能障碍在卟啉病。
Brainstem dysfunction in variegate porphyria.
机构信息
Neurology Department, EMG and Motor Control Unit, Hospital Clínic, Villarroel 170, Barcelona 08036, Spain.
出版信息
Muscle Nerve. 2012 Sep;46(3):426-33. doi: 10.1002/mus.23367.
INTRODUCTION
Variegate porphyria (VP) is a rare metabolic disorder that may present as an acute predominantly motor neuropathy. Cranial nerves and brainstem functions have been only scarcely studied.
METHODS
Brainstem reflexes were examined in symptomatic and non-symptomatic VP mutation carriers of a single family.
RESULTS
Similar results were found in the 2 patients with a history of porphyric crises. The blink reflex showed an absence of late responses (R2 and R2c) to stimulation of both sides. The masseter inhibitory reflex showed reduced inhibition of the second phase. The jaw jerk was normal. The asymptomatic carriers did not show any of the abnormalities just noted.
CONCLUSIONS
Our results are compatible with a central lower pons-upper medulla disorder in the brainstem. We hypothesize that brainstem dysfunction in VP patients with a history of porphyric crises may be due to neurotoxic effects of porphyrin precursors as well as subclinical osmolarity changes due to hyponatremia.
简介
杂色卟啉症（VP）是一种罕见的代谢紊乱疾病，可能表现为急性主要运动神经病。颅神经和脑干功能仅得到了很少的研究。
方法
对一个家族中出现卟啉症危象的症状性和非症状性 VP 突变携带者进行脑干反射检查。
结果
在有卟啉危象病史的 2 名患者中发现了相似的结果。眨眼反射显示双侧刺激时晚期反应（R2 和 R2c）缺失。咬肌抑制反射显示第二期抑制减弱。下颌反射正常。无症状携带者未出现上述任何异常。
结论
我们的结果与脑干中下部脑桥-上部髓质的中枢障碍一致。我们假设有卟啉症危象病史的 VP 患者的脑干功能障碍可能是由于卟啉前体的神经毒性作用以及低钠血症引起的亚临床渗透压变化所致。
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