Brain FDG-PET Scan and brain perfusion SPECT in the diagnosis of Neuroacanthocytosis Syndromes

Neuroacanthocytosis syndromes (NA) include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. Fluor 18 -2-fluoro-2-deoxyglucose (18F-FDG-PET) positron emission tomography (PET) and technetium 99m -d, l-hexamethyl-propylene amine oxime (99mTc-HMPAO) brain single photon emission computed tomography (SPECT) have been increasingly used for detection of neurologic disorders, such as dementia, epilepsy, and movement disorders. In this case report, we report two patients with neuroacanthocytosis syndromes with the imaging features of brain metabolism PET and brain perfusion SPECT. In addition brain PET and brain SPECT findings of patients with neuroacanthocytosis syndromes were reviewed.