Intracranial Calcifications Associated with Epilepsy: A Case Report of Lipoid Proteinosis

Lipoid proteinosis (LP) was first described by Urbach and Wiethe in 1929 under the name “hyalinosis cutis et mucosae.” LP is a very rare disease with approximately 400 cases reported in the literature. It affects males and females equally and is present worldwide [1]. It is an autosomal-recessive disease characterized by multisystem involvement due to intracellular deposition of am orphous hyaline material. The disease results from a mutation in the extracellular matrix of the protein 1 gene (ECM1) gene, located on chromosome 1q21.2 [1].

Source: Seizure: European Journal of Epilepsy - November 3, 2020 Category: Neurology Authors: Paula Martinez Agredano, Carlota Mendez del Barrio, Manuel Caballero Martinez, Carmen Arenas Cabrera Source Type: research