Jornal de Pesquisa do Cérebro

Neuroacanthocytosis (NA) syndromes are characterized by various neurological abnormalities accompanied by abnormal red blood cells called acanthocytes. Neuroacanthocytosis syndromes may be divided into 4 main subgroups. These subgroups are named as; Core NA syndromes, Degenerative disorders where acanthocytosis is occasionally seen, Paroxysmal dyskinetic disorders and Disorders with reduced blood lipoproteins and acanthocytosis. This report focuses on a patient with Chorea-acanthocytosis who presented with motor signs in the 3rd decade of life. In the later course of disease, the patient developed attention deficit hyperactivity disorder and various tic disorders. We wanted to emphasize the importance of multidisciplinary care in the management of chorea-acanthocytosis.

Practices guidelines for PET-CT (Positron Emission Tomography with Computed Tomography) imaging for oncology dictates acquiring images from the base of the skull to mid-thigh (eye to thigh protocol), excluding imaging the brain. The accepted reason being given that brain, because of its high metabolism and exclusive glucose use, will “hide” lesions. Other positron emitting radionuclides have been rightly developed for its imaging, mainly Carbon-11 Methionine, Fluorine-18 Fluoroethyltyrosine (18F-FET), Fluorine-18 Dihydroxyphenylalanine (18F-FDOPA). The authors however argue that including the brain in the imaging protocol adds no extra radiation burden to the patient and adds on only a little on the acquisition time, however the benefit yield can add acknowledged benefits and sometimes change management paradigms.