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.