title: Radiologic presentation of lipoid proteinosis with symmetrical medial temporal lobe calcifications.
abstract: 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.
authors.affiliation: Department of Radiology, Coimbatore Medical College Hospital, Coimbatore, India.
authors.forename: Subhashree
authors.initials: S
authors.lastname: Chandrasekaran
authors.affiliation: Department of Radiology, Coimbatore Medical College Hospital, Coimbatore, India.
authors.forename: Murali
authors.initials: M
authors.lastname: Nanjundan
authors.affiliation: Department of Radiology, Coimbatore Medical College Hospital, Coimbatore, India.
authors.forename: Sundari
authors.initials: S
authors.lastname: Natarajan
authors.affiliation: Department of Radiology, Coimbatore Medical College Hospital, Coimbatore, India.
authors.forename: Kannadhasan
authors.initials: K
authors.lastname: Ramadhas