Advertisement

Hereditary coproporphyria: An imitator of multiple sclerosis

      This paper is only available as a PDF. To read, Please Download here.

      Abstract

      Hereditary coproporphyria can cause both peripheral neuropathy and central nervous system abnormalities. There are several similarities between multiple sclerosis and hereditary coproporphyria that are probably due to the central nervous system dysfunction present in both. This report describes a 62-year-old man with a five-year history of progressive paraparesis initially diagnosed as multiple sclerosis. Supporting evidence for the diagnosis of a demyelinating disease included three oligoclonal bands in the patient's cerebral spinal fluid, a prolonged visual evoked response bilaterally, abnormal sensory evoked potentials, and an area of increased signal in the posterior cervical cord suggestive of demyelination that was demonstrated on magnetic resonance imaging (MRI). Features atypical for multiple sclerosis were hypoactive deep-tendon reflexes, electromyographic evidence of peripheral neuropathy, and severe constipation. Elevated urine porphyrins and decreased levels of coproporphyrinogen oxidase confirmed the correct diagnosis of hereditary coproporphyria. The patient improved after being placed on a high-carbohydrate diet. Although central demyelination is known to occur in patients with porphyria, delayed evoked potentials and MRI abnormalities have not been previously reported.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Archives of Physical Medicine and Rehabilitation
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Kappas A
        • Sassa S
        • Galbraith RA
        • Nordmann Y
        The porphyrias.
        in: Scriver CR The metabolic basis of inherited disease. 6th ed. McGraw-Hill, New York1989: 1305-1365
        • Bonkowsky HL
        • Schady W
        Neurologic manifestations of acute porphyria.
        Semin Liver Dis. 1982; 2: 108-124
        • Beeker DM
        • Kramer S
        The neurological manifestations of porphyria: a review.
        Medicine (Baltimore). 1977; 56: 411-423
        • Gibson JB
        • Goldberg A
        The neuropathology of acute porphyria.
        J Pathol Bacteriol. 1956; 71: 495-509
        • Poser CM
        The peripheral nervous system in multiple sclerosis: a review and pathogenic hypothesis.
        J Neurol Sci. 1987; 79: 83-90
        • Brodie MJ
        • Thompson GG
        • Moore MR
        • Beattie AD
        • Goldburg A
        Hereditary coproporphyria: demonstration of the abnormalities in haem biosynthesis in peripheral blood.
        QJ Med. 1977; 46: 229-241
        • Dean G
        • Kramer S
        • Lamb P
        Coproporphyria S Afr Med J. 1969; 43: 138-142
        • Andrews J
        • Erdjument H
        • Nicholson DC
        Hereditary coproporphyria: incidence in a large English family.
        J Med Genet. 1984; 21: 341-349
        • Casali C
        • Lo Monaco M
        • D'Alessandro L
        • et al.
        Hereditary coproporphyria: unusual nervous system involvement in two cases.
        J Neurol. 1984; 231: 99-101
        • Meyer UA
        Porphyrias.
        in: Braunwald E Harrison's principles of internal medicine. 11th ed. McGraw-Hill, New York1987: 1638-1643
        • Yeung Laiwah AC
        • McColl KEL
        Management of attacks of acute porphyria.
        Drugs. 1987; 34: 604-616