Radiologic presentation of lipoid proteinosis with symmetrical medial temporal lobe calcifications

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• 作者：Subhashree Chandrasekaran ; MD (RD) DNB (RD) ^{subhakaths@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Murali Nanjundan ; MD ; Sundari Natarajan ; MD ; Kannadhasan Ramadhas ; MD ; DMRD
• 刊名：Radiology Case Reports
• 出版年：2015
• 出版时间：2015
• 年：2015
• 卷：10
• 期：2
• 全文大小：902 K

文摘

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.