Differential Diagnosis for Large Increase in Subcentimeter Foci of T2/FLAIR Hyperintensity
Single Most Likely Diagnosis
- Multiple Sclerosis (MS): A chronic autoimmune disease characterized by demyelination in the central nervous system. The appearance of multiple subcentimeter foci of T2/FLAIR hyperintensity scattered throughout the white matter over a short period, such as 3 months, is highly suggestive of MS, especially in a young adult. The disease often presents with relapsing-remitting episodes, and MRI findings are crucial for diagnosis.
Other Likely Diagnoses
- Small Vessel Disease: This condition, often associated with hypertension, diabetes, or aging, can lead to white matter hyperintensities due to chronic small vessel ischemia. While it typically presents with more confluent and periventricular changes, it could be considered in the differential, especially in older patients or those with vascular risk factors.
- Acute Disseminated Encephalomyelitis (ADEM): A monophasic autoimmune illness characterized by widespread demyelination in the brain and spinal cord. It can present with multiple areas of T2/FLAIR hyperintensity, although it tends to be more confluent and associated with clinical symptoms of encephalitis.
- CNS Vasculitis: Inflammation of the blood vessels within the central nervous system can lead to multiple areas of ischemia or infarction, appearing as T2/FLAIR hyperintensities. This diagnosis would be considered, especially if there are systemic symptoms or other evidence of vasculitis.
Do Not Miss Diagnoses
- Central Nervous System Lymphoma (CNSL): Although less common, CNSL can present with multiple areas of T2/FLAIR hyperintensity, especially if there is infiltration of the lymphoma into the brain parenchyma. Given its aggressive nature and need for prompt treatment, it's crucial not to miss this diagnosis.
- Progressive Multifocal Leukoencephalopathy (PML): A rare and often fatal viral disease caused by the JC virus that affects people with weakened immune systems. It leads to demyelination and can present with multiple areas of T2/FLAIR hyperintensity without significant mass effect.
- CNS Infections (e.g., Neurosyphilis, HIV Encephalitis): Certain infections can cause white matter changes. Given the potential for severe consequences if left untreated, these should be considered, especially in patients with risk factors for such infections.
Rare Diagnoses
- Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS): A rare mitochondrial disorder that can present with stroke-like episodes and may show areas of T2/FLAIR hyperintensity due to ischemic changes.
- Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL): A rare hereditary disorder affecting the white matter of the brain, characterized by slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction.
- Susac Syndrome: A rare autoimmune endotheliopathy that affects the brain, retina, and inner ear, leading to characteristic "spoke-like" callosal lesions and white matter hyperintensities.