Postmortem Findings in Two Patients with the Carbohydrate‐deficient Glycoprotein Syndrome

Abstract

The postmortem findings in a pair of twins with the carbohydrate‐deficient glycoprotein syndrome are reported. Rapidly progressive olivopontocerebellar atrophy associated with retinopathy, were the most significant findings within the central nervous system. Additional observations were cerebral infarction, evidence of immune deficiency, steatosis and cirrhosis of the liver, pericarditis, renal cysts and fibrosis of the testes.