ACANTHOCYTOSIS, RETINITIS-PIGMENTOSA, PALLIDAL DEGENERATION - REPORT OF 2 CASES WITHOUT SERUM-LIPID ABNORMALITIES

We describe two unrelated patients with Hallervorden-Spatz disease cha racterized by prominent facio-bucco-lingual dyskinesia. Acanthocytosis and retinitis pigmentosa were additional findings. Brain MRI showed t he typical 'tiger's eye' image of the globus pallidus. This phenotype closely resembled the so-called HARP syndrome (hypoprebetalipoproteine mia, acanthocytosis, retinitis pigmentosa and pallidal degeneration), but extensive serum lipid study failed to demonstrate any lipoprotein abnormality. Our results raise the question whether HARP syndrome is a n autonomous entity or a particular phenotype of Hallervorden-Spatz di sease.