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NEUROLOGY 1986;36:674
© 1986 American Academy of Neurology

Lipoprotein disorder, cirrhosis, and olivopontocerebellar degeneration in two siblings

Dimitris P. Agamanolis, MD, Joseph L. Potter, MD, PhD, Herbert K. Naito, PhD, Haynes B. Robinson, Jr, MD and Thiruvengadam Kulasekaran, MD

Departments of Pathology (Neuropathology-Biochemistry) (Drs. Agamanolis, Potter, and Robinson) and Neurology (Dr. Kulasekaran), Children's Hospital Medical Center of Akron, Akron, OH and Northeastern Ohio Universities College of Medicine (NEOUCOM), Rootstown, OH; and Department of Biochemistry (Dr. Naito), Section of Lipids, Nutrition, and Metabolic Diseases, The Cleveland Clinic Foundation, Cleveland, OH.

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.

Address correspondence and reprint requests to Dr. Agamanolis, Children's Hospital Medical Center, 281 Locust Street, Akron, OH 44308.

Accepted for publication September 20, 1985.






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