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Internal Medicine

Sandhoff disease

Rare disorder of sphingolipid metabolism, related to a genetic deficiency of the enzyme β-hexosaminidase.

Rare disorder of sphingolipid metabolism, related to a genetic deficiency of the enzyme β-hexosaminidase.

  • Autosomal recessive inheritance

Clinical features

Classical infantile variant:

Onset at 3-9 months of age, following initial normal development
  • Regression of milestones
  • Muscular hypotonia
  • Startle response followed by spastic quadriparesis
  • Seizures
  • Macular cherry red spots (non-specific finding)

Rapid progression of disease with death occurring by 3–5 years of age

Juvenile/subacute variant

Seen in 2-5 years of age
  • Dementia
  • Cerebellar ataxia
  • Mental retardation
  • Spinal muscular atrophy

Adult/chronic variant

Seen in second or third decade
  • Presentation varies widely from spinocerebellar degeneration to motor neuron disorders

Diagnosis

  • Hexosaminidases A, B, and AB level detection
  • Bilateral thalamic involvement

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