American Journal of Neuroradiology
DOI 10.3174/ajnr.A1699
BRAIN
Amygdalae and Striatum Calcification in Lipoid Proteinosis
From the Departamento de Radiologia do Hospital Universitário da Universidade de Brasília (F.G.G., M.B.d.M., V.d.L.M., F.R.B.), Brasília, DF, Brazil; Instituto Brasiliense de Diagnóstico por Imagem - Unimagem (F.G.G.), Brasilia, DF, Brazil; and Department of Diagnostic Radiology and Neuroradiology (R.E.F.), Medical College of Georgia, Augusta, Georgia.
Please address correspondence to Fabrício G. Gonçalves, MD, SQSW 104 Bloco F apto 308, Sudoeste, Brasília, DF, CEP 70670–406, Brazil; e-mail: goncalves.neuroradio{at}gmail.com
SUMMARY: Lipoid proteinosis is a rare genodermatosis characterized by multisystem involvement due to intracellular deposition of an amorphous hyaline material. Lipoid proteinosis is caused by mutations in the ECM1 gene. In many patients, skin and mucosa abnormalities are the first manifestation. When the CNS is affected, a wide variety of neurologic abnormalities may be present. The hallmark findings are calcifications, mostly occurring in the amygdalae, hippocampus, parahippocampal gyrus, or even the striatum. Present in half of the patients, moniliform blepharosis is considered a pathognomonic finding. In the other half of patients imaging could assist in the diagnosis. The authors present a series of 3 cases of lipoid proteinosis with brief clinical data and imaging findings.