Cingulate island sign on SPECT in a patient with aceruloplasminemia presenting slowly progressive dementia. Issue 6 (24th September 2020)

• Record Type: Journal Article
• Authors: Umehara, Fujio; Hosoi, Yasushi; Miyajima, Hiroaki
• Other Names: Takeda Atsushi guestEditor.
• Is Part Of: Neurology and clinical neuroscience. Volume 8:Issue 6(2020:Nov.)
• Page Start: 409
• Page End: 411
• Publication Date: 2020-09-24
• Subjects: Aceruloplasminemia -- cingulate island sign -- dementia with Lewy bodies -- diabetes mellitus -- ECD‐SPECT; Neurology -- Periodicals; Neurosciences -- Periodicals; 616.8
• DOI: 10.1111/ncn3.12436
• Languages: English
• ISSNs: 2049-4173

Abstract

Abstract: A 63‐year‐old Japanese woman presented with slowly progressing dementia which developed over the two years prior to admission. She had a history of diabetes mellitus since the age of 30. Laboratory findings revealed low serum copper levels and undetectable serum ceruloplasmin. MRI showed a pronounced hypointensity in the bilateral putamen, caudate, thalamus, dentate nuclei, and cerebral cortex on T2*‐weighted images. ECD‐SPECT showed hypoperfusion in bilateral parieto‐occipital lobes with cingulate island sign. We identified a homozygous nonsense mutation (TAC to TAG) at nucleotide 537 in exon 3 of the ceruloplasmin gene in the patient, resulting in the diagnosis of aceruloplasminemia.