Lipoid proteinosis (LP) is a very rare autosomal-recessive disease characterized by multisystem involvement due to intracellular deposition of amorphous hyaline material. Clinical manifestations include hoarness, acne-like facial scarring and neurological manifestation including seizures. We describe the clinical, genetics and radiological features of LP in a refractory epileptic patient with genetic confirmation.
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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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