Abstract
Three cases of Zellweger's syndrome were reported. We reviewed the articles of Zellweger's syndrome up to 1976 and described chiefly the pathological findings of brain, liver and kidney. Recently, case reports related to DiGeorge's syndreme and/or Lowe's syndrome have appeared. Clinically, three cases on which we reported showed severe hypotonia and typical facial findings of Zellweger's syndrome in case I and 2, but there was little differences on facial findings of case 3 which showed partial defect of the thymus gland (association of both Zellweger and DiGeorge's syndrome). Pathologically, three cases showed quite similar findings in the abnormality of the cerebral gyri and subependymal cysts in the brain. The liver showed iron pigment deposition in some liver cells and Kupffer's cells. Elevated serum iron and copper in case 1 and elevated serum copper in case 2 were recognized. There were scattered renal cortical cysts measuring up to approximately 1mm in diameter in all three cases. The cysts were chiefly tubular type and they were most intense in case 3. Some of these cortical cysts were surrounded by thick fibrous wall. Pancreas with hypertrophy and hyperplasia of islands of Langerhans were noted in all three cases and some kinds of abnormality of the heart were also seen in all three. The most essential subject of the cerebro-hepato-renal syndrome was thought to be metabolic disorders due to gene anomaly, and the most significant finding seems to be the existence of the renal cortical cysts.
