Rare Diseases Symptoms Automatic Extraction

Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter.

[sneddon syndrome]

We describe a 11 year-old-boy with Sneddon syndrome, confirmed by skin biopsy, and MR evidence of diffuse cerebral hyperintensity of white matter; he also suffered from pre-perinatal hypoxic-ischemic distress. Arylsulfatase A activity was found reduced because of arylsulfatase A pseudodeficiency. We suggest that the association of pre-perinatal distress, Sneddon syndrome and arylsulfatase A pseudodeficiency is responsible for the diffuse impairment of cerebral white matter, never reported in Sneddon syndrome and similar to described cases of delayed posthypoxic demyelination and arylsulfatase A pseudodeficiency.

Diseases presenting "cerebral white matter" symptom

  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • canavan disease
  • classical phenylketonuria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • krabbe disease
  • neonatal adrenoleukodystrophy
  • sneddon syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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