A 22-year-old woman presented with a facial rash and hoarseness of voice. On examination, coarse waxy thickening and scarring was noted on the forehead and both the cheeks. The eyelid margins revealed a row of beaded papules termed 'moniliform blepharosis'. CT scan of the brain revealed bilateral, symmetric calcification of the amygdala of the hippocampal nuclei. This led to the diagnosis of lipoid proteinosis which is a rare genetic disorder.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3987638PMC
http://dx.doi.org/10.1136/bcr-2014-203950DOI Listing

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Lipoid proteinosis is a rare genetic disorder affecting the skin, mucous membranes, and central nervous system. Here, we present the case of a 35-year-old female who presented with two episodes of seizures followed by loss of consciousness and injury to the nose. A CT scan and MRI of the brain revealed small symmetrical calcifications in the bilateral medial temporal lobes, a finding highly suggestive of lipoid proteinosis.

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Article Synopsis
  • Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare genetic disorder that causes abnormal material buildup in various tissues, including skin and organs, and can sometimes lead to neurological issues.
  • A case of a 25-year-old male presented with unexpected left leg weakness, which diverged from the typical symptoms of LP like skin and voice changes, highlighting the need to explore LP's possible neurological effects.
  • Imaging revealed brain abnormalities and possible complications involving the liver and thyroid, indicating that LP might be linked to motor weakness and suggesting a need for more research into its neurological manifestations.
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