Cerebro-hepato-renal (Zellweger's) Syndrome

Stănescu, B

doi:10.1001/archopht.1972.01000020592018

Cited by 21 publications

(3 citation statements)

References 6 publications

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“…The structural anomalies of ZS can be categorised broadly as: 1. errors of morphogenesis, which include minor facial anomalies, renal cortical cysts and heterotopic grey matter in the brain and 2. regressive changes such as liver fibrosis, cerebral white matter degeneration and chorioretinopathy [9,22,25,43]. After its initial description the absence of morphologically distinct peroxisomes became a highly specific ultrastructural marker of the disease [11].…”

Section: Discussionmentioning

confidence: 99%

A milder variant of Zellweger syndrome

et al. 1985

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A 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental retardation, moderate hypotonia, epilepsy and hepatic fibrosis. Postural control, intentional vocalising and manual dexterity were superior to the performance of patients with classical Zellweger syndrome (ZS). Morphologically distinct peroxisomes were absent in the liver. In blood elevated pipecolic acid levels and abnormal levels of bile acid intermediates were found. The plasmalogen content of erythrocytes was normal. In fibroblasts we found an accumulation of very long chain fatty acids, decreased activity of acyl CoA:dihydroxyacetone phosphate acyltransferase, and impaired de novo biosynthesis of plasmalogens. On the basis of these clinical, ultrastructural and biochemical characteristics we assume that this patient represents a milder variant of the classical cerebro-hepato-renal syndrome of Zellweger.

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Section: Discussionmentioning

confidence: 99%

A milder variant of Zellweger syndrome

et al. 1985

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“…The cerebro-hepato-renal syndrome of Zellweger is distinguishable by its characteristic facies, frank liver cirrhosis, renal cortical cysts, histochemical evidence of sudanophilic leukodystrophy, and lack of survival past a few days of age (Stanuscu & Dralands 1972).…”

Section: Discussionmentioning

confidence: 99%

Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings

et al. 1974

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A new syndrome is described in a brother and a sister who show a similar range of minor dysmorphic features (frontal bossing, high palate, anteverted nares, hypertelorism, carp mouth), colobomata, and a diffuse encephalopathy in association with congenital hepatic fibrosis and childhood polycystic kidney disease. The relationship of the major features to each other is discussed and a differential diagnosis is outlined.

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“…This is especially clear if the results of electrophysiological techniques are considered. An extinguished electroretinogram (ERG) was found in virtually all patients studied (Stanescu and Dralands 1972;de L6on et al 1977;Hittner et al 1981;Kretzer et al 1981;Arneson et al 1982;Garner et al 1982;Govaerts et al 1985). Upon roentgenological examination the stippled scimitar shaped calcifications of the patellae are the most impressive and most frequently described abnormalities (incidence: 30/40 (75 ~o)) although calcific stippling is not confined to the patellae only.…”

Section: Biogenesis Of Peroxisomesmentioning

confidence: 98%

Peroxisomal disorders in neurology

Wanders

Heymans

Schutgens

et al. 1988

Journal of the Neurological Sciences

171

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SUMMARYAlthough peroxisomes were initially believed to play only a minor role in mammalian metabolism, it is now clear that they catalyse essential reactions in a number of different metabolic pathways and thus play an indispensable role in intermediary metabolism. The metabolic pathways in which peroxisomes are involved include the biosynthesis of ether phospholipids and bile acids, the oxidation of very long chain fatty acids, prostaglandins and unsaturated long chain fatty acids and the catabolism of phytanate and (in man) pipecolate and glyoxylate.The importance of peroxisomes in cellular metabolism is stressed by the existence of a group of inherited diseases, the peroxisomal disorders, caused by an impairment in one or more peroxisomal functions. In the last decade our knowledge about peroxisomes and peroxisomal disorders has progressed enormously and has been the subject of several reviews. New developments include the identification of several additional peroxisomal disorders, the discovery of the primary defect in several of these peroxisomal disorders, the recognition of novel peroxisomal functions and the application of complementation analysis to obtain information on the genetic relationship between the different peroxisomal disorders.The peroxisomal disorders recognized at present comprise 12 different diseases, with neurological involvement in 10 of them. These diseases include: (1) those in which peroxisomes are virtually absent leading to a generalized impairment of peroxisomal functions (the cerebro-hepato-renal syndrome of Zellweger, neonatal adrenoleukodystrophy, infantile Refsum disease and hyperpipecolic acidaemia); (2) those in which peroxisomes are present and several peroxisomal functions are impaired (the rhizomelic form of chondrodysplasia punctata, combined peroxisomal fl-oxidation enzyme protein deficiency); and (3)those in which peroxisomes are present and only a single peroxisomal function is impaired (X-linked adrenoleukodystrophy, peroxisomal thiolase deficiency (pseudo-Zellweger syndrome), acyl-CoA oxidase deficiency (pseudoneonatal adrenoleukodystrophy) and probably, the classic form of Refsum disease.

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Cerebro-hepato-renal (Zellweger's) Syndrome

Cited by 21 publications

References 6 publications

A milder variant of Zellweger syndrome

A milder variant of Zellweger syndrome

Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings

Peroxisomal disorders in neurology

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