Canavan's disease is initially recognized by the appearance of symptoms, yet further examinations are needed for definitive diagnosis. Neuroimaging techniques such as Computed Tomography (CT) scan or Magnetic Resonance imaging (MRI) are typically used to detect the presence of degenerative subcortical white matter. Microscopy of the cerebrospinal fluid can also be used for diagnosis, where swollen astrocytes with distorted and elongated mitochondria can be seen in patients. Urine examinations are used to differentiate CD patients from other neurodegenerative disorders with similar morphology, such as Alexander diseases and Tay-Sachs diseases (which similarly exhibit macrocephaly), as patients with CD uniquely display increased excretion of NAA.
Spongy degeneration of the central nervous system
Lesional demyelinations of the central nervous system
Inflammatory demyelinating diseases of the central nervous system
Visual pathway lesions
Neurogenic inflammation
Central nervous system fatigue
Effects of early-life exposures to anesthesia on the brain
Neurodegeneration with brain iron accumulation