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Hereditary coproporphyria: an imitator of multiple sclerosis
J A Macy1, J Gilroy, J C Perrin
1Department of PM&R, William Beaumont Hospital, Royal Oak, MI 48072.
Archives of Physical Medicine and Rehabilitation
|August 1, 1991
Summary
Hereditary coproporphyria, often misdiagnosed as multiple sclerosis, can cause neurological issues. Early diagnosis and a high-carbohydrate diet improved symptoms in a patient with this rare genetic disorder.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Hereditary coproporphyria (HCP) is a rare genetic disorder.
- HCP can manifest with peripheral neuropathy and central nervous system (CNS) abnormalities.
- Similarities between HCP and multiple sclerosis (MS) can lead to diagnostic challenges.
Observation:
- A 62-year-old man presented with progressive paraparesis, initially diagnosed as MS.
- Diagnostic findings included oligoclonal bands, abnormal evoked potentials, and MRI evidence of demyelination.
- Atypical features for MS included hypoactive reflexes, peripheral neuropathy, and constipation.
Findings:
- Elevated urine porphyrins and reduced coproporphyrinogen oxidase confirmed HCP.
- The patient showed improvement after initiating a high-carbohydrate diet.
- This case highlights previously unreported evoked potential and MRI findings in HCP-related CNS demyelination.
Implications:
- This case underscores the importance of considering HCP in patients with suspected demyelinating diseases.
- Recognizing atypical features can aid in differentiating HCP from MS.
- Prompt diagnosis and dietary management can lead to symptom improvement in HCP.