Abstract
In a 5-year-old boy, an early onset psychomotor retardation with nonprogressive 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.
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References
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Echenne, B., Vidal, M., Maire, I. et al. Salla disease in one non-Finnish patient. Eur J Pediatr 145, 320–322 (1986). https://doi.org/10.1007/BF00439413
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DOI: https://doi.org/10.1007/BF00439413