Lipoprotein disorder, cirrhosis, and olivopontocerebellar degeneration in two siblings

Neurology. 1986 May;36(5):674-81. doi: 10.1212/wnl.36.5.674.

Abstract

Two siblings had olivopontocerebellar degeneration, failure to thrive, hepatic fatty change and cirrhosis, and a dyslipoproteinemia characterized by low cholesterol and elevated triglycerides. This condition was distinct from other cerebellar atrophies and ataxias and was not due to malabsorption or malnutrition. Cerebellar degeneration progressed rapidly during the first year of life, and both children died from intercurrent infections and surgical complications at 11 and 17 months. Stereotyped clinical and pathologic findings in the two patients suggest a previously unreported genetic metabolic disorder affecting the liver and the CNS.

Publication types

  • Case Reports

MeSH terms

  • Atrophy
  • Brain / pathology
  • Brain Diseases / complications*
  • Brain Diseases / genetics
  • Brain Diseases / pathology
  • Cerebellar Diseases / complications*
  • Cerebellar Diseases / genetics
  • Cerebellar Diseases / pathology
  • Female
  • Humans
  • Hyperlipoproteinemias / complications*
  • Hyperlipoproteinemias / genetics
  • Hyperlipoproteinemias / pathology
  • Hypolipoproteinemias / complications*
  • Hypolipoproteinemias / genetics
  • Hypolipoproteinemias / pathology
  • Infant, Newborn
  • Liver Cirrhosis / complications*
  • Liver Cirrhosis / genetics
  • Liver Cirrhosis / pathology
  • Male
  • Olivary Nucleus / pathology*
  • Pons / pathology*