J Korean Neurol Assoc.  1993 Dec;11(4):599-606.

Two Fatal Cases due to Porphyric Peripheral Neurophathy

• Bae JC
• Cheong KH
• Cho PZ
• Rho SY
• Sunwoo IN
• Koo HS

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.

MeSH Terms

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