Re-evaluation of the dysequilibrium syndrome

Acta Neurol Scand. 2011 Jan;123(1):28-33. doi: 10.1111/j.1600-0404.2010.01335.x.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cerebellar Ataxia
  • Cerebellum / abnormalities
  • DNA Mutational Analysis / methods
  • Female
  • Humans
  • Intellectual Disability / blood
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Magnetic Resonance Imaging / methods
  • Male
  • Middle Aged
  • Mutation / genetics
  • Neurologic Examination / methods
  • Phosphotransferases (Phosphomutases) / genetics
  • Receptors, LDL / genetics*
  • Reference Values
  • Sweden
  • Transferrin / analogs & derivatives
  • Transferrin / deficiency

Substances

  • Receptors, LDL
  • Transferrin
  • VLDL receptor
  • carbohydrate-deficient transferrin
  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase 2, human

Supplementary concepts

  • Dysequilibrium syndrome