ArticleRadiology case reports2025
Brain imaging findings in lipoid proteinosis (Urbach-Wiethe disease).
Article in Radiology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
We present neuroimaging and skin findings of Urbach-Wiethe disease (lipoid proteinosis) in 2 adult patients. Lipoid proteinosis is a rare, autosomal recessive disease that primarily affects the skin, the upper respiratory tract, and the central nervous system (CNS). The first patient (a 37-year-old female) was referred due to the new onset of bilateral temporal lobe epilepsy. She had a family history and typical skin manifestations of the disease. She had been diagnosed with the disease in childhood. The second patient (a 42-year-old male) was referred for an MRI due to episodes of migraine and panic attacks without a previous diagnosis of the disease. Bilateral mesial temporal lobe calcifications, especially in the amygdalae, were found on MRI and CT in both patients. Patients may be referred for imaging due to a variety of neurological symptoms, even without prior knowledge of the disease; thus, radiologists should be aware of the imaging manifestations of lipoid proteinosis.
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