Amygdalae and striatum calcification in lipoid proteinosis

F. G. Gonçalves, M. B. De Melo, V. De L. Matos, F. R. Barra, R. E. Figueroa

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)88-90
Number of pages3
JournalAmerican Journal of Neuroradiology
Volume31
Issue number1
DOIs
StatePublished - Jan 1 2010

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Amygdala
Skin Abnormalities
Nervous System Malformations
Parahippocampal Gyrus
Hyalin
Hippocampus
Mucous Membrane
Mutation
Genes

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

Cite this

Amygdalae and striatum calcification in lipoid proteinosis. / Gonçalves, F. G.; De Melo, M. B.; Matos, V. De L.; Barra, F. R.; Figueroa, R. E.

In: American Journal of Neuroradiology, Vol. 31, No. 1, 01.01.2010, p. 88-90.

Research output: Contribution to journalArticle

Gonçalves, F. G. ; De Melo, M. B. ; Matos, V. De L. ; Barra, F. R. ; Figueroa, R. E. / Amygdalae and striatum calcification in lipoid proteinosis. In: American Journal of Neuroradiology. 2010 ; Vol. 31, No. 1. pp. 88-90.
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