Hengstman Gerald J D, de Laat Karlijn F, Jacobs Bram, van Engelen Baziel G M
Department of Neurology, Catharina Hospital, Eindhoven, The Netherlands.
J Clin Neuromuscul Dis. 2009 Dec;11(2):72-6. doi: 10.1097/CND.0b013e3181b0a7a5.
The erythropoietic porphyrias are primarily manifested by skin sensitivity. They are, unlike many other forms of porphyria, usually not associated with neurologic manifestations. Only a few cases have been reported of neuropathy in patients with erythropoietic porphyrias, all characterized by an acute motor and proximally accentuated neuropathy occurring in the setting of hepatic failure. In this report, we present a patient without hepatic failure who presented with a sensorimotor axonal polyneuropathy before being diagnosed with erythropoietic porphyrias. The presented case expands the forms of neurologic complications that can be seen in this specific form of porphyria.
红细胞生成性卟啉病主要表现为皮肤敏感。与许多其他形式的卟啉病不同,它们通常与神经表现无关。仅有少数红细胞生成性卟啉病患者出现神经病变的病例报道,所有这些病例的特征都是在肝功能衰竭的情况下发生急性运动性和近端加重的神经病变。在本报告中,我们介绍了一名无肝功能衰竭的患者,该患者在被诊断为红细胞生成性卟啉病之前出现了感觉运动轴索性多神经病。该病例扩展了这种特定形式卟啉病可能出现的神经并发症形式。