Shimizu H, Miyajima H, Kondo M, Sakai N, Kamata T
First Department of Internal Medicine, Hamamatsu University School of Medicine, Japan.
Rinsho Shinkeigaku. 1995 Nov;35(11):1221-4.
We reported a 30-year-old woman with variegate porphyria. Family history disclosed that her mother had the same skin lesions as the present case. She has had repeated vesicles and brownish pigmentation on her upper extremities since eighteen years of age. Recently she was suffering from common cold, and was treated with drugs. One week later, she started to develop weakness and dysesthesia in all limbs, hallucination, and urinary disturbance. Three weeks later, she was admitted to our hospital because she could not stand any more. On general examination, she had brownish pigmentations and crusts in hands and forearms. Neurologically she had moderate weakness, dysesthesia and hyperreflexia in all limbs. Urine was dark-red. Head and cervical MRI was normal. Nerve conduction studies and somatosensory evoked potentials were within normal limits. Excretion of porphyrins, especially protoporphyrin and X-porphyrin in the feces were markedly increased, and the diagnosis of variegate porphyria was made. Intravenous administration of glucose was effective and her symptoms began to improve in two weeks after her admission. However, recovery of weakness took two months and dysesthesia did not disappear in three months. We considered that her clinical manifestations were caused by involvement of the central and peripheral nervous systems.
我们报告了一名30岁的患有杂色卟啉症的女性。家族史显示她的母亲有与本病例相同的皮肤病变。自18岁起，她的上肢反复出现水疱和褐色色素沉着。最近她患了普通感冒，并接受了药物治疗。一周后，她开始出现四肢无力、感觉异常、幻觉和排尿障碍。三周后，因无法站立她住进了我院。全身检查发现她的双手和前臂有褐色色素沉着和结痂。神经系统检查显示她四肢有中度无力、感觉异常和反射亢进。尿液呈暗红色。头部和颈椎MRI正常。神经传导研究和体感诱发电位均在正常范围内。卟啉的排泄，尤其是粪便中原卟啉和X-卟啉的排泄显著增加，从而确诊为杂色卟啉症。静脉注射葡萄糖有效，入院两周后她的症状开始改善。然而，无力的恢复花了两个月，感觉异常在三个月内并未消失。我们认为她的临床表现是由中枢和周围神经系统受累引起的。
