Article ; Online: Brain F-18 FDG and F-18 FP-CIT PET/CT Findings of c.856_860delCTCTA Mutation McLeod Syndrome.
2021 Volume 34, Issue 3, Page(s) 207–211
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 ...
| 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. |
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| MeSH term(s) | Aged ; Brain/diagnostic imaging ; Fluorodeoxyglucose F18 ; Humans ; Male ; Mutation ; Neuroacanthocytosis ; Positron Emission Tomography Computed Tomography ; Tropanes |
| Chemical Substances | Tropanes ; Fluorodeoxyglucose F18 (0Z5B2CJX4D) ; 2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane (155797-99-2) |
| Language | English |
| Publishing date | 2021-09-02 |
| Publishing country | United States |
| Document type | Case Reports ; Journal Article |
| ZDB-ID | 2108112-8 |
| ISSN | 1543-3641 ; 1543-3633 |
| ISSN (online) | 1543-3641 |
| ISSN | 1543-3633 |
| DOI | 10.1097/WNN.0000000000000267 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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