Brain F-18 FDG and F-18 FP-CIT PET/CT Findings of c.856_860delCTCTA Mutation McLeod Syndrome. Issue 3 (September 2021)

• Record Type: Journal Article
• Authors: Ryu, Ho-Sung; Hong, Chae Moon
• Is Part Of: Cognitive and behavioral neurology. Volume 34:Issue 3(2021)
• Publication Date: 2021-09
• Subjects: McLeod syndrome -- neuroacanthocytosis -- FP-CIT -- dopamine transporter -- FDG; Neuropsychiatry -- Periodicals; Clinical neuropsychology -- Periodicals; 616.8005
• DOI: 10.1097/WNN.0000000000000267
• Languages: English
• ISSNs: 1543-3633

Abstract

Abstract : McLeod syndrome is a rare X-linked recessive genetic disorder that is caused by mutations of the XK gene. It is one of the core neuroacanthocytosis syndromes. We report the case of a 67-year-old man who presented to Kyungpook National University Hospital in the Republic of Korea with progressive worsening of generalized chorea and dystonia. He had no recognized family history of neurologic illness. A peripheral blood smear showed increased acanthocytes. His serum creatine kinase levels were 894 U/L. A brain MRI showed atrophy of the bilateral striatal nuclei. An F-18 F-N-(3-fluoropropyl)-2β-carboxymethoxy-3β-(4-iodophenyl) nortropane PET/CT showed moderately decreased dopamine transporter uptake in the putamen and severely decreased uptake in the caudate nucleus. An F-18 fludeoxyglucose PET/CT demonstrated markedly decreased metabolism at the caudate nucleus and the putamen. Whole exome sequencing revealed hemizygous pathogenic mutations of the XK gene (c.856_860delCTCTA;p.Leu286TyrfsTer16). We believe that these findings provide useful information regarding the clinical features of individuals with McLeod syndrome. Abstract : Supplemental Digital Content is available in the text.