Two Fatal Cases due to Porphyric Peripheral Neurophathy

J Korean Neurol Assoc > Volume 11(4); 1993 > Article

Journal of the Korean Neurological Association 1993;11(4): 599-606.

포르피린 말초신경병증으로 사망한 2례

배재천, 정근호,조필자,노숙영,선우일남,구혜수

국립의료원 신경과. 연세대학교 신경과. 이화여자대학교 병리학.

Two Fatal Cases due to Porphyric Peripheral Neurophathy

Jae-Chun Bae, M.D., Keun-Ho Cheong, M.D., Phil-Za Cho, M.D., Sook-Young Rho, M.D., Il-Nam Sunwoo, M.D., Hea-Soo Koo, M.D.

Department of Neurology, National Medical Center, Department of Neurology, College of Medicine Yonsei University. Department of Neurology and Pathology, College of Medicine Ewha Woman's University

Abstract

We report two cases of porphyric peripheral neuropathy in a 19-year-old male with variegate porphyria and in a 39 year-old male with intermittent acute prophyria. Clinically, there were sensory, motor disturbance and autonomic symptoms including decreased sweating, urinary and sphinctor distrubances. Variegate porphyria showed facial diplegia and positive family history inherited by autosomal dominent trait. Intermittent acute porphyria was combined-with SIADH. Both cases were expired due to respiratory failure. Nerve conduction studies were carried out in two cases and both cases showed slow motor, sensory nerve conductlon velocity ,and significant low CMAPs(Compound Muscle Action Potentials). Sural nerve biopsy was carried out in a variegate prophyria compared with one normal control. Decreased large myelinated fibers was found. In nerve fiber teased study. 8.5% of nerve fibers showed axonal degenration and only 2.3% of the segmental demyelination. There findings are suggesting that the porphyric neuro might be the axonal type.and severe neuropathy in a sign of poor prognosis.