Bilateral Striatal Hypometabolism on FDG PET in a Patient With McLeod Syndrome.
case_report · Level V
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- Record sourced from PubMed, PMID 42275650.
- Also identified by DOI 10.1097/RLU.0000000000006561.
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Abstract
18 F-FDG PET scan performed on a 59-year-old man with progressive chorea, cognitive decline, peripheral neuropathy, and elevated creatine kinase revealed marked bilateral caudate and putamen hypometabolism. Huntington disease was suspected but HTT testing was negative. Whole-exome sequencing identified a hemizygous XK mutation (c.664C>T, p.(Arg222*)), confirming McLeod syndrome. This case highlights that bilateral striatal hypometabolism with peripheral involvement in addition to extrapyramidal symptoms should raise suspicion for McLeod syndrome.
Medical subject headings
- Fluorodeoxyglucose F18
- Positron-Emission Tomography
- Neostriatum
- Neuroacanthocytosis
- Corticobasal Degeneration