The Cerebro-Hepato-Renal Syndrome (Zellweger’s Syndrome)

Sommer, Annemarie; Bradel, Edward J.; Hamoudi, Ala B.

doi:10.1159/000240694

Cited by 19 publications

(5 citation statements)

References 7 publications

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“…Congenital viral encephalopathy may coexist with SEH since it may have a haemorrhagic component [9]. Cerebro-hepato-renal syndrome (Zellweger) and neonatal bacterial ventriculitis are rare conditions associated with subependymal cysts [1,4,12]. Our two cases of congenital rubella syndrome confirm earlier reports that neurotropic virus infection of the germinative matrix causes characteristic sonolucent lesions.…”

Section: Offprint Requests To: C Beltingersupporting

confidence: 82%

Sonography of subependymal cysts in congenital rubella syndrome

Beltinger¹,

Saule²

1988

Eur J Pediatr

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Two newborns with congenital rubella syndrome are reported. Cranial sonography demonstrated bilateral cystic lesions in the subependymal germinal matrix. Congenital rubella and cytomegalovirus (CMV) infections are the most common proven causes of subependymal cysts of nonhaemorrhagic origin in the newborn. The sonographic detection of these cysts should prompt an intensive search for congenital viral infections.

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Section: Offprint Requests To: C Beltingersupporting

confidence: 82%

Sonography of subependymal cysts in congenital rubella syndrome

Beltinger¹,

Saule²

1988

Eur J Pediatr

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“…In 21 cases specific mention of medulla was made in the pathologic descriptions. It was unremarkable in 3 cases (cases described by KOOS,' Sommer et al, 14 and our case 2). In our case 1 and in the cases described by Baxter,' by Vlachos and T~akraklidis,~ and by Taxy and Filmer," there were foci of minimal t o mild chronic interstitial inflammatory infiltrate and/or fibrosis.…”

supporting

confidence: 49%

Clinicopathologic Spectrum of Glomerulocystic Kidneys: Report of Two Cases and a Brief Review of Literature

Joshi

Kasznica

1984

Pediatric Pathology

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Two cases of glomerulocystic kidneys (GK) are described and 35 cases are reviewed from the literature. Glomerular cysts formed by dilatation of Bowman's space are the basic and predominant lesion of GK. GK can occur in two different settings: (1) cases in which GK are the only major anomaly or are associated with variable types of anomalies that do not constitute a well-defined syndrome and (2) as part of a well-defined syndrome such as Zellweger's, trisomy 13, short-rib-polydactyly or oral-facial-digital syndrome. The genetic heterogeneity of GK is reflected in the different modes of inheritance of these syndromes. With one exception, no familial incidence is reported for GK unassociated with a syndrome. The morphologic heterogeneity is reflected in those cases in which the cysts show epithelial hyperplasia and/or presence of primitive/dysplastic glomeruli. It is not certain that these histologic variations represent different subtypes of GK. GK is characterized by bilaterality, renal enlargement, absence of urinary tract obstruction, presence of 2-3 mm cortical cysts lined by flattened to cuboidal epithelium and containing a glomerular tuft. GK cannot be distinguished morphologically from adult polycystic kidney disease (APKD) manifesting in the neonatal period. Familial incidence and autosomal dominant pattern of inheritance are the only clues to the correct diagnosis of APKD in such instances.

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“…The storage consists of neutral fat in astrocytes, glycogen in cortical neurons, lamellar-lipid and lamellar membrane inclusions in lateral cuneate and Clarke's column neurons, while cortical neuronal loss, fibrous gliosis, globoid cells, lipid phagocytes and glial nodules are widespread (Volpe and Adams 1972;Vuia et al 1973;Garzuly et al 1974;Agamanolis et al 1976;Mei Liu et al 1976;de L6on et al 1977;Brun et al 1978;Evrard et al, 1978;Agamanolis and Patre 1979;Aubourg et al 1985;Powers et al 1985Powers et al , 1987. Table 1 is based on the information presented in the following papers as compiled by Heymans (1984): Bowen et al 1964;Smith et al 1965;Passarge and MeAdams 1967;Punnett and Kirkpatriek 1968;Opitz et al 1969;Taylor et al 1969;Vitale et al 1969;Jan et al 1970;Poznanski et al 1970;Patton et al 1972;Staneseu and Dralands 1972;Volpe and McAdams 1972;Williams et al 1972;Goldfischer et al 1973;Vincens et al 1973;Vuia et al 1973;Berrlstein et al 1974;Garzuly et al 1974;Gomez et al 1974;Sommer et al 1974;Danks et al 1975;Agamanolis et al 1976;Gilchrist et al 1976;Haddad et al 1976;Mei Liu et al 1976;Variend et al 197...…”

Section: Biogenesis Of Peroxisomesmentioning

confidence: 99%

“…Table 1 is based on the information presented in the following papers as compiled by Heymans (1984): Bowen et al 1964;Smith et al 1965;Passarge and MeAdams 1967;Punnett and Kirkpatriek 1968;Opitz et al 1969;Taylor et al 1969;Vitale et al 1969;Jan et al 1970;Poznanski et al 1970;Patton et al 1972;Staneseu and Dralands 1972;Volpe and McAdams 1972;Williams et al 1972;Goldfischer et al 1973;Vincens et al 1973;Vuia et al 1973;Berrlstein et al 1974;Garzuly et al 1974;Gomez et al 1974;Sommer et al 1974;Danks et al 1975;Agamanolis et al 1976;Gilchrist et al 1976;Haddad et al 1976;Mei Liu et al 1976;Variend et al 1976;Camera et al 1977;de Lron et al 1977;Bartoletti et al 1978;Brun et al 1978;Carlson and Weinberg 1978;Evrard et al 1978;Agamanolis and Patre 1979;Hanson et al 1979;Pfeiffer and Sandhage 1979;Mathis et al 1980;Della Giustina et al 1981;Hittner et al 1981;Hong et al 1981;Kretzer et al 1981;…”

Section: Biogenesis Of Peroxisomesmentioning

confidence: 99%

“…Histology of the liver varied from near normal to diffuse fibrotic or micronodular cirrhotic, a phenomenon probably related to the age of the patients. In the first two months of life microscopic abnormalities were reported to be absent or only mild (Passarge and McAdams 1967;Kohn and Mundel 1969;Poznanski et al 1970;Sommer et al 1974;Danks et al 1976) including a.o. mid portal and/or lobular fibrosis, cholestasis, intrahepatic bileduct hypoplasia and altered lobular architecture.…”

Section: Biogenesis Of Peroxisomesmentioning

confidence: 99%

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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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The Cerebro-Hepato-Renal Syndrome (Zellweger’s Syndrome)

Cited by 19 publications

References 7 publications

Sonography of subependymal cysts in congenital rubella syndrome

Sonography of subependymal cysts in congenital rubella syndrome

Clinicopathologic Spectrum of Glomerulocystic Kidneys: Report of Two Cases and a Brief Review of Literature

Peroxisomal disorders in neurology

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