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AJNR - American Journal of Neuroradiology

Published ahead of print on August 20, 2009
doi: 10.3174/ajnr.A1699

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American Journal of Neuroradiology 31:88-90, January 2010
© 2010 American Society of Neuroradiology

Case Report
BRAIN

Amygdalae and Striatum Calcification in Lipoid Proteinosis

F.G. Gonçalves^a,b, M.B. de Melo^a, V. de L. Matos^a, F.R. Barra^a and R.E. Figueroa^c

^aFrom 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
^bInstituto Brasiliense de Diagnóstico por Imagem - Unimagem (F.G.G.), Brasilia, DF, Brazil
^cDepartment 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.