Salla disease in one non-Finnish patient

Abstract

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.

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero

“…22 French patients usually present with a very severe phenotype; only one Salla patient has been diagnosed during the past 25 years in our laboratory. 23 The severity of SASD in our population and the fact that Salla presentation has been considered for years as the prototype of SASD, are probably responsible for underdiagnosis of this very rare condition.…”

Salla disease variant in a Dutch patient

“…A number of non-Finnish patients share slow progression and neurological findings with Salla disease [2,5,6,33,34]. However, other manifestations reported in these cases such as dysostosis multiplex and hepatosplenomegaly [2], thoracic kyphosis and pale optic disks [6], almost normal intellectual development [34] and the ocular and skeletal findings of the present patient, are difficult to reconcile with Salla disease.…”

Sialic Acid Storage Disease and Related Disorders

“…Conjunctival biopsy showed vacuolated fibroblasts and thin-layer chromatography revealed high concentrations of free sialic acid in the urine (Echenne et al, 1986).…”