Radiologic presentation of lipoid proteinosis with symmetrical medial temporal lobe calcifications

• Main Authors: Subhashree Chandrasekaran, MD (RD) DNB (RD), Murali Nanjundan, MD, Sundari Natarajan, MD, Kannadhasan Ramadhas, MD, DMRD
• Format: Article
• Language: English
• Published: Elsevier 2015-01-01
• Series: Radiology Case Reports
• Online Access: http://www.sciencedirect.com/science/article/pii/S1930043316300395

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.