1/5. Contribution of fetal MR imaging in the prenatal diagnosis of zellweger syndrome.zellweger syndrome (ZS), or cerebrohepatorenal syndrome, was the first described peroxisomal biogenesis disorder. It represents the most severe phenotype, and some of its multiple congenital anomalies can manifest prenatally. Fetal hypokinesia, renal hyperechogenicity, and cerebral ventricular enlargement are the most common reported fetal features. Single and/or late detectable manifestations account for most of the difficulties of prenatal diagnosis, as well as the limitations of ultrasonography itself. prenatal diagnosis, however, can be achieved through (1) assays of concentrations of peroxisomal metabolites (very-long-chain fatty acids, bile acids, intermediates, plasmalogens), (2) activities of peroxisomal enzymes (dihydroacetone-phosphate acyltransferase), or (3) molecular screening techniques, if available. We report on the contribution of MR imaging to the diagnosis of ZS in 2 unrelated fetuses. MR imaging was performed in the third trimester because of cerebral ventricular enlargement diagnosed on routine sonography examinations. In both cases, MR imaging revealed ZS-characteristic abnormal cortical gyral patterns, impaired myelination, and cerebral periventricular pseudocysts. In addition, MR imaging revealed renal microcysts and hepatosplenomegaly in one case. The high level of resolution of MR imaging, which allows analysis of cerebral gyration and myelination, facilitates the prenatal diagnosis of complex polymalformative syndromes such as ZS.- - - - - - - - - - ranking = 1keywords = cerebrohepatorenal syndrome, cerebrohepatorenal (Clic here for more details about this article) |
2/5. zellweger syndrome: a histochemical diagnosis of two cases.Until 17 years ago the diagnosis of the cerebrohepatorenal zellweger syndrome (ZS) rested largely on clinical grounds confirmed by pathologic findings at autopsy. The observation that peroxisomes are not detectable morphologically or histochemically in liver or kidney of patients with this syndrome gave histopathologists the opportunity to make the diagnosis of this complex syndrome at biopsy. catalase reaction of the peroxisomes can be used as a rapid and accurate method to differentiate between ZS and other clinical conditions in which the peroxisomes are present in normal or reduced number. We describe two patients in whom the diagnosis of ZS was made by the absence of histochemical staining for catalase in a liver biopsy. The findings were subsequently confirmed using standard biochemical tests.- - - - - - - - - - ranking = 0.3076924792086keywords = cerebrohepatorenal (Clic here for more details about this article) |
3/5. Oral bile acid treatment and the patient with zellweger syndrome.The cerebrohepatorenal syndrome of Zellweger is a congenital syndrome of multiple manifestations, including hepatomegaly and liver dysfunction. Treatment is generally of a supportive nature, aimed at improving nutrition and growth, controlling the central nervous system symptoms and limiting progression of liver disease. Because the liver disease in zellweger syndrome may be attributed to an overproduction and accumulation of cholestanoic acids, exacerbated by diminished primary bile acid synthesis, we hypothesized that primary bile acid administration would be beneficial in improving liver function by a mechanism involving down-regulation in the synthesis of these atypical bile acids. We report here the clinical and biochemical responses to primary bile acid administration in a 2-mo-old boy who was seen with the typical signs of zellweger syndrome. liver disease was evident from hepatomegaly and elevated serum liver enzymes and bilirubin. The diagnosis was supported by markedly elevated serum very long chain fatty acids and the bile acids dihydroxycholestanoic acid and trihydroxycholestanoic acid. Confirmation of the lack of peroxisomes was established by electron microscopy. When the patient was 6 mo old, the primary bile acids cholic acid and chenodeoxycholic acid, (100 mg each/day) were administered orally. A significant improvement in biochemical indices of liver function occurred with a normalization of the serum bilirubin and liver enzymes and a histological improvement in the extent of inflammation and bile duct proliferation and disappearance of cannalicular plugs. serum and urinary cholestanoic acids showed a significant decrease within a few days. A striking and sustained increase in growth was observed after therapy, and an improvement in neurological symptoms was noted. In conclusion, this study indicates that primary bile acid therapy improves liver function and growth in the patient with peroxisomal dysfunction and should be considered in the supportive therapies for this condition.- - - - - - - - - - ranking = 1keywords = cerebrohepatorenal syndrome, cerebrohepatorenal (Clic here for more details about this article) |
4/5. Occurrence of cerebrohepatorenal (Zellweger) syndrome in the Karaite community in israel: a genetic hypothesis.Two infants with the cerebrohepatorenal (Zellweger) syndrome in Karaite families are described. This syndrome has an autosomal recessive mode of inheritance with an estimated incidence of between 1:25,000 and 1:100,000 live births. In addition to a previous report of the syndrome in a Karaite family, this report raises the possibility of a high incidence of zellweger syndrome among the Karaites in israel.- - - - - - - - - - ranking = 1.538462396043keywords = cerebrohepatorenal (Clic here for more details about this article) |
5/5. Intestinal lymphangiectasia in a patient with Zellweger cerebrohepatorenal syndrome.Zellweger cerebrohepatorenal syndrome (ZWCHRS) is an autosomal-recessive disease, characterized by the absence or profound deficiency of peroxisomes. We report a case of ZWCHRS with intestinal lymphangiectasia, observed as an autopsy finding. This combination is previously unreported.- - - - - - - - - - ranking = 5keywords = cerebrohepatorenal syndrome, cerebrohepatorenal (Clic here for more details about this article) |