HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

MR imaging of cerebral cortical involvement in aceruloplasminemia.

Abstract
Aceruloplasminemia is a rare autosomal recessive disorder. The lack of ceruloplasmin ferroxidase activity leads to parenchymal and reticuloendothelial iron overload, resulting in diabetes and progressive neurodegeneration with extrapyramidal disorders, ataxia, and dementia. We describe the MR imaging findings in a 40-year-old woman with hereditary aceruloplasminemia. The abnormal T2 hypointensities were more marked than those seen in any other condition, including degenerative disorders of the basal ganglia and Wilson disease, and they may be typical of aceruloplasminemia. To our knowledge, involvement of the cortex has not been described and suggests that brain iron accumulation in aceruloplasminemia is more extensive than previously believed, even in asymptomatic patients.
AuthorsMarina Grisoli, Alberto Piperno, Luisa Chiapparini, Raffaella Mariani, Mario Savoiardo
JournalAJNR. American journal of neuroradiology (AJNR Am J Neuroradiol) Vol. 26 Issue 3 Pg. 657-61 (Mar 2005) ISSN: 0195-6108 [Print] United States
PMID15760883 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Ceruloplasmin
Topics
  • Adult
  • Cerebral Cortex (pathology)
  • Ceruloplasmin (deficiency)
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Metabolism, Inborn Errors (diagnosis)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: