Hallervorden-spatz syndrome (pigmentary degeneration of globus pallidus; progressive pallidal degeneration syndrome

General: Etiology unknown; autosomal dominant; onset between age 7 and 9 years; globus pallidus and pars reticularis of the substantia nigra are involved with demyelinization and degenerative processes; perhaps a form of iron storage disease.

Ocular: Nystagmus; retinitis pigmentosa; optic nerve atrophy; degeneration of photoreceptors; retinal gliosis; narrowing and obliteration of blood vessels with perivascular cuffing; degeneration of retinal pigment epithelial cells.

Clinical: Slowly progressing spasticity and rigidity of the extremities; emotional disturbances (pseudobulbar type); dementia; clubfoot; dysphagia; athetosis; dysphonia; choreoathetosis; rigidity; seizures; pyramidal signs; generalized dystonia.

Geeraets WJ. Ocular Syndromes. Philadelphia: Lea & Febiger, 1976.

Hallervorden J, Spatz H. Eigenartige Erkrankung im Extrapyramidalen System mit Besonderer Beteiligung des Globus Pallidus und der Substantia Nigra: Ein Beitrag zu den Beziehungen Zwischen Diesen Beiden Zentren. Z Neurol Psychiatr 1922; 79:254.

Martin JJ, et al. Niemann-Pick disease (Crocker group A). Late onset and pigmentary degeneration resembling Hallervorden-Spatz syndrome. Arch Neurol 1972; 27:45.

Orrell RW, et al. Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). Neurology 1995; 45[3 Pt I]: 487-492.

Tripathi RC, et al. Clinicopathologic correlation and pathogenesis of ocular and central nervous system manifestations in Hallervorden-Spatz syndrome. Acta Neuropathol 1992; 83:113-l19.