Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children.
The case reports of two Swedish girls with initially pseudostationary clinical pictures, one simulating ataxic and the other dyskinetic cerebral palsy, are presented. It was eventually revealed that they had a slowly progressive encephalopathy with pronounced gross motor disability and signs of severe dyskinesia, but only mild intellectual delay. Electron microscopy of skin biopsies showed a picture identical to that in Salla disease. They had a moderately increased 5-10 fold urinary free sialic acid excretion, increased sialidase activity in lymphocytes but normal activity in cultured fibroblasts. These two Swedish cases represent variants of Salla disease, a group of conditions with probable genetic heterogeneity.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D005260:Female; D005387:Finland; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008247:Lysosomes / Q000201:enzymology / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D009439:Neuraminidase / Q000378:metabolism*; D011596:Psychomotor Disorders / Q000175:diagnosis*; D012867:Skin / Q000201:enzymology / Q000294:innervation / Q000648:ultrastructure; D013548:Sweden / Q000208:ethnology
D009439:Neuraminidase