Two Fatal Cases due to Porphyric Peripheral Neurophathy.
- Author:
Jae Chun BAE
1
;
Keun Ho CHEONG
;
Phil Za CHO
;
Sook Young RHO
;
Il Nam SUNWOO
;
Hea Soo KOO
Author Information
1. Department of Neurology, National Medical Center, Korea.
- Publication Type:Case Report
- MeSH:
Adult;
Axons;
Biopsy;
Demyelinating Diseases;
Humans;
Inappropriate ADH Syndrome;
Male;
Myelin Sheath;
Nerve Fibers;
Neural Conduction;
Peripheral Nervous System Diseases;
Porphyria, Acute Intermittent;
Porphyria, Variegate;
Prognosis;
Respiratory Insufficiency;
Sural Nerve;
Sweat;
Sweating;
Young Adult
- From:Journal of the Korean Neurological Association
1993;11(4):599-606
- CountryRepublic of Korea
- Language:Korean
-
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.
