Neurological Findings in the Carbohydrate‐deficient Glycoprotein Syndrome

Abstract

The carbohydrate deficient glycoprotein (CDG) syndrome is a newly described disorder with a characteristic carbohydrate deficiency of glycoproteins. It is mainly a nervous system disorder, but other organ systems are also involved, such as the liver, the kidneys, the skeletal system, the subcutaneous adipose tissue and the pericardium. Based on twenty‐two cases, 2.5–48 years old, we describe the neurological features and evolution. In the neonatal and infantile age there was hypotonia, muscular weakness, developmental retardation, diminishing tendon reflexes and alternating esotropia. Preschool and early school age was characteristized by progressive polyneuropathy with muscular weakness and contractures, extrapyramidal signs (ataxia, dyskinesia, dysequilibrium), psychomotor retardation (I.Q. level of 40–60), transient stroke‐like episodes and retinitis pigmentosa. In puberty and adulthood the condition was rather stationary. They learned at best to walk with support, understand the spoken word well, and a few developed a fairly good linguistic skill. The dominating neuroradiological finding was pontine and cerebellar “atrophy”.