Intracranial calcifications associated with epilepsy: A case report of lipoid proteinosis.

Autor: Agredano PM; Department of Neurology University Hospital Reina Sofia, Córdoba, Spain. Electronic address: paulam.martinez.sspa@juntadeandalucia.es., Del Barrio CM; Department of Neurology, University Hospital Juan Ramón Jimenez, Huelva, Spain., Martinez MC; Department of Clinical Neurophysiology University Hospital Virgen Del Rocío, Sevilla, Spain., Cabrera CA; Department of Neurology University Hospital Virgen Del Rocío, Sevilla, Spain.
Jazyk: angličtina
Zdroj: Seizure [Seizure] 2020 Dec; Vol. 83, pp. 172-174. Date of Electronic Publication: 2020 Nov 04.
DOI: 10.1016/j.seizure.2020.10.027
Abstrakt: 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.
(Copyright © 2020 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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