Re-evaluation of the dysequilibrium syndrome

Melberg A, Örlén H, Raininko R, Entesarian M, Dahlqvist J, Gustavson KH, Dahl N. Re‐evaluation of the dysequilibrium syndrome. Acta Neurol Scand: 2011: 123: 28–33. © 2010 The Authors Journal compilation © 2010 Blackwell Munksgaard. Objectives – To re‐evaluate middle‐aged Swedish patients diagnosed with dysequilibrium syndrome (DES) in childhood and to compare their clinical and neuroimaging features to DES with VLDLR gene mutations (DES‐VLDR). Materials and methods – Six patients from five families underwent neurological examination and magnetic resonance imaging (MRI) of the brain. Blood samples from the patients were screened for serum carbohydrate‐deficient transferrin (s‐CDT; disialotransferrin). The very‐low‐density lipoprotein receptor (VLDLR) gene was sequenced. Results – Five patients had non‐progressive cerebellar ataxia (NPCA), dysarthria and short stature. Mental retardation and strabismus, characteristic for DES‐VLDLR, were inconsistent among our patients. None of our patients had VLDLR mutations or MRI findings characteristic of DES‐VLDLR. MRI findings were variable from a normal cerebellum to marked cerebellar hypoplasia or atrophy and signal intensity changes. One patient was diagnosed with congenital disorder of glycosylation type 1a (CDG‐1a). Conclusions – DES was originally coined on mainly clinical grounds before MRI and specific genetic tests were available, both of which should be used to arrive at an appropriate diagnosis.