CEREBELLO-OCULO-HEPATO-RENAL SYNDROME WITH POSSIBLE MITOCHONDRIAL DYSFUNCTION

Bilateral retinal dysfunction with optic atrophy was evident in a 26-y ear-old man along with renal, hepatic and cardiac dysfunction. MRI sho wed undersized cerebellar vermis. Blood lactate and pyruvate were high , indicating possible mitochondrial dysfunction. In biopsied biceps mu scle, some ragged red fibers were identified. In five usually congenit al or inherited syndromes, Dandy-Walker, Joubert, Arima, Dekaban and C OACH, the symptoms such as hypoplasia or aplasia of the cerebellar ver mis with multiple ocular and systemic disorders serve as the basis for differential diagnosis. The present case showed numerous symptomatic similarities and a few specific differences with Arima, Dekaban and CO ACH syndromes. These three syndromes and the present case were thus gi ven a single designation, cerebello-oculo-hepato-renal syndrome, altho ugh the present case was an adult patient with sporadic onset. Some sy stemic disorders not included in cerebello-oculo-hepato-renal syndrome were also noted in our case and may possibly be explained by mitochon drial dysfunction, as indicated by blood pyruvate and lactate levels a nd the presence of ragged red fibers in biopsied biceps muscle. The re lationship between cerebello-oculo-hepato-renal syndromes and mitochon drial dysfunction is discussed.