Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts : review of the literature and a report of an additional case

An 8-month-old male infant who presented in the neonatal period with failure to thrive, bilateral pleural and pericardial effusions, and hepatic insufficiency characterized by elevated liver functions tests and hypoalbuminemia was found at autopsy to have an unusual combination of olivopontocerebell...

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Bibliographic Details
Published in:Acta neuropathologica 1993-09, Vol.86 (4), p.399-404
Main Authors: YUAN CHANG, TWISS, J. L, HOROUPIAN, D. S, CALDWELL, S. A, JOHNSTON, K. M
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cerebellum - pathology
Dendrites - ultrastructure
Humans
Infant
Kidney Diseases, Cystic - genetics
Kidney Diseases, Cystic - pathology
Kidney Tubules - pathology
Liver Cirrhosis - genetics
Liver Cirrhosis - pathology
Male
Malformations of the nervous system
Medical sciences
Neurology
Olivopontocerebellar Atrophies - genetics
Olivopontocerebellar Atrophies - pathology
Purkinje Cells - ultrastructure
Syndrome
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Summary:An 8-month-old male infant who presented in the neonatal period with failure to thrive, bilateral pleural and pericardial effusions, and hepatic insufficiency characterized by elevated liver functions tests and hypoalbuminemia was found at autopsy to have an unusual combination of olivopontocerebellar atrophy (OPCA), micronodular cirrhosis, and renal tubular microcysts. Metabolic evaluation was significant only for elevated urine dicarboxylic acids. In the brain, sections from the cerebellum showed marked atrophy of folia most severe in the vermal and paravermal regions. In addition, mild neuronal loss was present in the basis pontis and inferior olivary nuclei accompanied by gliosis. Residual Purkinje cells in the cerebellar hemispheres exhibited greatly expanded and swollen arbors, which ultrastructurally were found to contain densely packed membranous cytoplasmic body-like inclusions that had the appearance of unwinding, lamellar coils. Review of the literature shows that this constellation of findings has been associated with carbohydrate-deficient transferrin. This biochemical marker along with the distinctive clinical presentation and pathological features clearly delineates a unique subset of OPCA.
ISSN:0001-6322
1432-0533
DOI:10.1007/BF00369455