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Updated: Dec 1, 2025

Lipidomics and Transcriptomics in Neurological Diseases
Published on: March 18, 2022
Intracranial calcifications associated with epilepsy: A case report of lipoid proteinosis
Paula Martinez Agredano1, Carlota Mendez Del Barrio2, Manuel Caballero Martinez3
1Department of Neurology University Hospital Reina Sofia, Córdoba, Spain.
Abstract:
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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