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Agredano, Paula Martinez; del Barrio, Carlota Mendez; Martinez, Manuel Caballero; Cabrera, Carmen Arenas
Seizure, December 2020, 2020-Dec, 2020-12-00, 20201201, Letnik: 83Journal Article
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.
