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 f ailure to thrive, bilateral pleural and pericardial effusions, and hep atic insufficiency characterized by elevated liver functions tests and hypoalbuminemia was found at autopsy to have an unusual combination o f olivopontocerebellar atrophy (OPCA), micronodular cirrhosis, and ren al tubular microcysts. Metabolic evaluation was significant only for e levated urine dicarboxylic acids. In the brain, sections from the cere bellum showed marked atrophy of folia most severe in the vermal and pa ravermal regions. In addition, mild neuronal loss was present in the b asis pontis and inferior olivary nuclei accompanied by gliosis. Residu al Purkinje cells in the cerebellar hemispheres exhibited greatly expa nded and swollen arbors, which ultrastructurally were found to contain densely packed membranous cytoplasmic body-like inclusions that had t he appearance of unwinding, lamellar coils. Review of the literature s hows that this constellation of findings has been associated with carb ohydrate-deficient transferrin. This biochemical marker along with the distinctive clinical presentation and pathological features clearly d elineates a unique subset of OPCA.