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Differential Diagnosis for Symmetrical Posterior Putaminal Hyperintensity

Single Most Likely Diagnosis

  • Wilson's Disease: This is a genetic disorder that leads to copper accumulation in the body, particularly affecting the brain and liver. Symmetrical posterior putaminal hyperintensity on MRI is a characteristic finding due to the toxic effects of copper on the basal ganglia.

Other Likely Diagnoses

  • Leigh Syndrome: A mitochondrial disorder that affects the central nervous system and can present with symmetrical lesions in the basal ganglia, including the putamen, due to impaired mitochondrial energy production.
  • Methylmalonic Acidemia: A genetic disorder affecting amino acid and fatty acid metabolism, which can lead to accumulation of toxic substances and result in basal ganglia lesions, including putaminal hyperintensity.
  • Krabbe Disease: A lysosomal storage disorder that affects the myelin sheath, leading to demyelination and can present with abnormalities in the basal ganglia, including the putamen.

Do Not Miss Diagnoses

  • Carbon Monoxide Poisoning: Although less common, carbon monoxide poisoning can cause bilateral globus pallidus and putamen damage due to hypoxic-ischemic injury, making it crucial not to miss this potentially treatable condition.
  • Methanol Poisoning: Similar to carbon monoxide, methanol poisoning can lead to putaminal necrosis and should be considered in the appropriate clinical context to ensure prompt treatment.

Rare Diagnoses

  • Pantothenate Kinase-Associated Neurodegeneration (PKAN): A rare genetic disorder characterized by iron accumulation in the brain, leading to progressive damage, particularly in the basal ganglia.
  • Friedreich's Ataxia: An autosomal recessive genetic disorder that affects the nervous system and can lead to iron accumulation in the dentate nucleus and other parts of the brain, potentially affecting the putamen.
  • Neurodegeneration with Brain Iron Accumulation (NBIA): A group of rare, inherited disorders characterized by progressive neurological deterioration and excessive iron accumulation in the brain, which can involve the putamen.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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