Bilateral Striatal Hypometabolism on FDG PET in a Patient With McLeod Syndrome.

Clin Nucl MedJun 9, 2026 (epub)
Case ReportNeurologyMedical Genetics

Dan Xu, Yichun Wang, Qijun Li et al.

✦ AI-curated · Sources linked

Case in brief

A 59-year-old man presented with progressive chorea, cognitive decline, peripheral neuropathy, and elevated creatine kinase levels. An 18 F-FDG PET scan revealed significant bilateral hypometabolism in the caudate and putamen. Initially suspected to have Huntington disease, negative HTT testing led to whole-exome sequencing, which confirmed a hemizygous XK mutation, diagnosing McLeod syndrome.

Diagnostic / clinical pearl

Bilateral striatal hypometabolism, along with peripheral symptoms and extrapyramidal signs, should prompt consideration of McLeod syndrome, especially when Huntington disease is ruled out.

Source

PubMed · PMID 42275650

Published in Clin Nucl Med. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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