Urbach-Wiethe disease (lipoid proteinosis)

Case contributed by Fabian Boeckel


Long history with recurrent post-ictal like states. The parents describe an increasing loss of emotional sensitivity in the long term. Patient is also in recurrent treatment of skin problems with uncertain origin. The appearance is dominated by quite large lips and a hoarse voice.

Patient Data

Age: 12 years
Gender: Male

Bilateral signal-free areas/calcifications in the mesial temporal lobe closely associated to the amygdala.

Bilateral temporal rough calcifications in a CT scan performed 3 years before the MRI exam.

Case Discussion

The distinct bilateral calcifications as well as the clinical history point to lipoid proteinosis.

The diagnosis has been confirmed by genetic tests.

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Case information

rID: 63620
Published: 13th Oct 2018
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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