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Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy

Sacha Ferdinandusse1, Simon Barker, Katherine Lachlan

  • 1Laboratory Genetic Metabolic Diseases, F0-220, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands. S.Ferdinandusse@amc.uva.nl

Journal of Neurology, Neurosurgery, and Psychiatry
|February 27, 2010
PubMed

Insights

Peroxisomal acyl-coenzyme A oxidase deficiency typically presents severely in infancy. However, this study identifies adult patients with a mild form, showing profound brainstem and cerebellum atrophy.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Peroxisomal acyl-coenzyme A oxidase deficiency is a severe inherited metabolic disorder affecting fatty acid oxidation.
  • It typically manifests in early infancy with progressive neurological decline and a poor prognosis.

Observation:

  • This study reports the first adult cases of peroxisomal acyl-coenzyme A oxidase deficiency in two siblings aged 52 and 55.
  • These individuals presented with a remarkably mild clinical phenotype, contrasting with the typical severe infantile form.

Findings:

  • Despite the mild presentation, magnetic resonance imaging revealed significant atrophy of the brainstem and cerebellum in both adult patients.
  • This suggests a potential disconnect between clinical manifestation and neuroimaging findings in certain presentations of the disease.

Implications:

  • The findings expand the known clinical spectrum of peroxisomal acyl-coenzyme A oxidase deficiency, highlighting the possibility of milder adult-onset forms.
  • This necessitates considering this diagnosis in adults with unexplained neurological symptoms and cerebellar/brainstem atrophy, potentially impacting genetic counseling and patient management.

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