Salla disease in one non-Finnish patient

Eur J Pediatr. 1986 Sep;145(4):320-2. doi: 10.1007/BF00439413.


In a 5-year-old boy, an early onset psychomotor retardation with non-progressive ataxia and without dysmorphic features, associated with lysosomal storage disease found on ultrastructural examination of the conjunctiva, led to the diagnosis of Salla disease. This was supported by a tenfold excretion of urinary free sialic acid, without abnormal oligosacchariduria or anomaly in lysosomal enzymes. This boy is a native of Southern France. Screening of urinary sialic acid has to be introduced in aetiological investigations of patients with apparently non-progressive psychomotor retardation associated with ataxia or dystonic movements.

Publication types

  • Case Reports

MeSH terms

  • Child
  • France
  • Humans
  • Male
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / ethnology
  • Metabolism, Inborn Errors / pathology*
  • Syndrome