Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities.
J Neurol Sci
; 140(1-2): 129-31, 1996 Sep 01.
Article
en En
| MEDLINE
| ID: mdl-8866438
ABSTRACT
We describe two unrelated patients with Hallervorden-Spatz, disease characterized by prominent facio-bucco-lingual dyskinesia. Acanthocytosis and retinitis pigmentosa were additional findings. Brain MRI showed the typical 'tiger's eye' image of the globus pallidus. This phenotype closely resembled the so-called HARP syndrome (hypoprebetalipoproteinemia, 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 an autonomous entity or a particular phenotype of Hallervorden-Spatz disease.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Retinitis Pigmentosa
/
Colesterol
/
Acantocitos
/
Globo Pálido
/
Neurodegeneración Asociada a Pantotenato Quinasa
/
Lipoproteínas
Límite:
Adolescent
/
Adult
/
Humans
Idioma:
En
Revista:
J Neurol Sci
Año:
1996
Tipo del documento:
Article
País de afiliación:
Italia