Wu Chi-Lin, Ro Long-Sun, Jung Shih-Ming, Tsai Tzung-Chang, Chu Chun-Che, Lyu Rong-Kuo, Huang Chin-Chang, Kuo Hung-Chou
Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, 199 Tung Hwa North Road, Taipei, Taiwan.
Muscle Nerve. 2015 Mar;51(3):363-9. doi: 10.1002/mus.24327.
A case series of acute intermittent porphyria (AIP) is described that focuses on the clinical course of the disease with regard to neurological manifestations of the peripheral nervous system.
Eight patients were diagnosed with AIP on the basis of characteristic clinical findings, erythrocyte porphobilinogendeaminase activity, neuropathic patterns, serial changes in nerve conduction studies (NCS), and temporal relationship of central nervous system involvement.
Six patients diagnosed with AIP<2 months after symptom onset had neuropathy that was predominantly upper extremity, motor, and proximal. NCS recovery rates were slower in the lower than the upper limbs. Two patients diagnosed >2 months after symptom onset had distal sensorimotor polyneuropathy.
The findings from this case series suggest that the peripheral nerves may be differentially and selectively involved in different diagnostic stages of porphyric neuropathy.
本文描述了一系列急性间歇性卟啉病（AIP）病例，重点关注该疾病在外周神经系统神经表现方面的临床病程。
根据特征性临床表现、红细胞胆色素原脱氨酶活性、神经病变模式、神经传导研究（NCS）的系列变化以及中枢神经系统受累的时间关系，对8例患者进行了AIP诊断。
6例在症状出现后2个月内被诊断为AIP的患者出现了以主要累及上肢、运动神经和近端神经为主的神经病变。下肢NCS恢复率低于上肢。2例在症状出现2个月后被诊断为AIP的患者出现了远端感觉运动性多发性神经病。
该病例系列的研究结果表明，外周神经在卟啉病性神经病变的不同诊断阶段可能受到不同程度和选择性的累及。
