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Multisystem pathology in McLeod syndrome.

Katherine R Schon1,2,3, Dominic G O'Donovan4, Mayen Briggs1,4

  • 1Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.

Neuropathology : Official Journal of the Japanese Society of Neuropathology
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Summary
This summary is machine-generated.

This study details a McLeod neuroacanthocytosis syndrome case, highlighting movement disorders and genetic XK gene variant. Early diagnosis is crucial for managing transfusion and cardiac risks in this rare neurodegenerative disorder.

Keywords:
McLeod syndromeXK geneautopsyraised CK

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Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • McLeod neuroacanthocytosis syndrome is an ultra-rare X-linked neurodegenerative disorder.
  • Caused by mutations in the XK gene, it presents with complex multisystemic features.

Observation:

  • A 61-year-old male presented with movement disorder, behavioral changes, and elevated creatine kinase.
  • Clinical examination revealed dystonia, chorea, oromandibular dyskinesia, and neurological deficits.
  • Brain MRI showed white matter loss, basal ganglia atrophy, and ischemia; muscle biopsy was inconclusive.

Findings:

  • Targeted genetic analysis identified a pathogenic XK gene variant (c.895C>T p.(Gln299Ter)), confirming McLeod syndrome.
  • Autopsy revealed basal ganglia atrophy, iron deposition, gliosis, mild Alzheimer's pathology, cardiomyopathy, and splenomegaly.
  • Muscle pathology indicated neurogenic atrophy, lacking overt myopathic changes.

Implications:

  • Accurate diagnosis of McLeod syndrome is vital due to risks of severe transfusion reactions and cardiac complications.
  • Targeted genetic analysis of candidate genes is recommended over exome panels for suspected cases.
  • Comprehensive characterization aids understanding of this rare neurodegenerative condition.