title: Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children.
abstract: 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.
mesh_terms: 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
chemical_list: D009439:Neuraminidase