HALLERVORDEN-SPATZ DISEASE
 
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HALLERVORDEN-SPATZ DISEASE

 

DEFINITION:

A rare degenerative disorder resulting in degeneration of the basal ganglia characterized by dystonia and progressive rigidity and choreoathetosis.

EPIDEMIOLOGY:

  • incidence: rare
  • age of onset:
    • childhood (dystonia), mean age of onset: 8 years
  • risk factors
    • familial - autosomal recessive
      • chrom.#: ?
      • gene: ?
    • M = F

PATHOGENESIS:

1. Background

  • classified as a degenerative disease of the basal ganglia
  • likely an inborn error of metabolism which results in the deposition of iron-rich pigment in the basal ganglia leading to globoid degeneration
  • the iron-rich pigment also accumulates in the substantia nigra and in the arteries of most organs

CLINICAL FEATURES:

1. Neurologic Manifestations

1. Initial

  • usually presents with dystonia which is then followed by dysphagia and difficulty speaking

2. Later

  • patients slowly become rigid and stiff within the first 2-3 years of onset of the disease (Stiff Man Syndrome)
  • other motor abnormalities:
    • generalized spasticity, rigidity, hyperkinesis, facial grimacing, tip-toe walking, tremor, torticollis, cerebellar signs, pyramidal signs, choreoathetosis, chorea
  • intellectual deterioration, mental retardation, seizures, behavioural changes
  • dysphagia leading to NG, G-tube, or IV feeding
  • abnormal or absent speech
  • nystagmus, optic atrophy, pigmentary degeneration of the retina, retinitis pigmentosa

INVESTIGATIONS:

1. Imaging Studies

1. CT

  • bilateral high-density lesions within the globus pallidus

2. MRI

  • iron isotope scanning of the basal ganglia
  • hypointensity of the globus pallidus

2. Pathology

  • establishes definite diagnosis on postmortem examination
  • iron-rich pigmentation, formation of "spheroids", and character-istic lesion in the globus pallidus

MANAGEMENT:

1. Supportive

  • treat movement disorders and other neurological manifestations

2. Prognosis

  • death usually occurs in early adulthood (mean age of 19 years)
  • usually live 11 years after the initiation of symptoms

 

 

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