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Radiologic presentation of lipoid proteinosis with symmetrical medial temporal lobe calcifications
Lipoid proteinosis is a rare, autosomal-recessive, genetic disorder characterized by multisystem involvement due to intracellular deposition of amorphous hyaline material. The disease is due to a mutation in the extracellular matrix of the protein 1 gene. The skin, mucosa, and central nervous system...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4921162/ https://www.ncbi.nlm.nih.gov/pubmed/27398129 http://dx.doi.org/10.2484/rcr.v10i2.1121 |
Sumario: | Lipoid proteinosis is a rare, autosomal-recessive, genetic disorder characterized by multisystem involvement due to intracellular deposition of amorphous hyaline material. The disease is due to a mutation in the extracellular matrix of the protein 1 gene. The skin, mucosa, and central nervous system are commonly affected. Hallmark findings in the brain are calcifications, mostly occurring in the amygdala, hippocampus, parahippocampal gyrus, and striatum. Moniliform blepharosis, a dermatologic condition that is present in 50% of patients, is a pathognomonic finding. In the other 50% of patients, imaging assists in the diagnosis. We present a case of lipoid proteinosis with its characteristic features. |
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