Neuroacanthocytosis and aprebetalipoproteinemia.
A 30-year-old woman presented with a progressive neurologic disorder characterized by seizures, buccolingual dyskinesias, orofacial tics, choreiform movements, atrophy, and areflexia. Investigations revealed normal lipid profile except for aprebetalipoproteinemia. Phase-contrast and electron microscopy showed 35 to 40% acanthocytes. MRI and 18fluorodeoxyglucose-PET studies showed caudate atrophy and hypometabolism. The phenotype of this patient is neuroacanthocytosis and its association with aprebetalipoproteinemia may represent a new subentity of the disorder.
Bohlega
S
S
Department of Neurosciences, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
Riley
W
W
Powe
J
J
Baynton
R
R
Roberts
G
G
D000050:Acanthocytes / Q000473:pathology*; D000328:Adult; D001055:Apolipoproteins B / Q000097:blood*; D002819:Chorea / Q000097:blood* / Q000150:complications* / Q000175:diagnosis; D005260:Female; D019788:Fluorodeoxyglucose F18; D006402:Hematologic Diseases / Q000150:complications*; D006801:Humans; D008279:Magnetic Resonance Imaging; D019275:Radiopharmaceuticals; D014055:Tomography, Emission-Computed
D001055:Apolipoproteins B; D019275:Radiopharmaceuticals; D019788:Fluorodeoxyglucose F18