Abstract
We report the clinical, neuroradiological, and molecular genetic findings in a patient with lipoid proteinosis or Urbach-Wiethe disease. Interestingly, in this patient epilepsy and migraine were the symptoms leading to the diagnosis of the disease, contrary to most patients in whom skin abnormalities are the first recognized symptoms.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Epilepsy / complications*
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Female
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Humans
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Lipoid Proteinosis of Urbach and Wiethe / complications*
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Lipoid Proteinosis of Urbach and Wiethe / diagnosis
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Lipoid Proteinosis of Urbach and Wiethe / diagnostic imaging
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Lipoid Proteinosis of Urbach and Wiethe / genetics
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Magnetic Resonance Imaging
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Migraine Disorders / complications*
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Radiography