The Neuropathology of a Peculiar Form of Cerebro-Renal Syndrome in a Child

Vuia, O.; Hager, Heather; Rupp, Hanna; Koch, F.

doi:10.1055/s-0028-1091749

Cited by 13 publications

(4 citation statements)

References 3 publications

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“…Whether some cases of familial congenital cerebellar atrophy described anatomically by NORMAN (1967) A new aspect in our case were the lesions found in the brain. No cystic lesions were abserved at this level but symmetrical temporo-occipital softenings, which showed all the characteristics of vascular softening and are generally described in cerebral circulatoy insufficiency caused by lesions of the large arteries (ZULCH 1961). Anatomically, the vascular lesions found in our case might account for these alterations, present both in the large extracranial vessels (aorta and its efferent vessels), in the basilar artery and in the intracerebral (status cribrosus of the basal ganglia) and leptomeningeal vessels.…”

Section: Discussionsupporting

confidence: 56%

Neuropathologic Aspects in Menkes' Kinky Hair Disease (Trichopoliodystrophy) – Menkes' Kinky Hair Disease

Vuia¹,

Heye²

1974

Neuropediatrics

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Section: Discussionsupporting

confidence: 56%

Neuropathologic Aspects in Menkes' Kinky Hair Disease (Trichopoliodystrophy) – Menkes' Kinky Hair Disease

Vuia¹,

Heye²

1974

Neuropediatrics

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“…Cells which probably correspond to the globoid cells seen in our patients were previously described by Vuia et a1 [20] and by Agamanolis et a1 [l]. Although the patient of Vuia et a1 [20] was diagnosed (despite the patient's sex) as having a variant of Lowe's syndrome, the brain findings seem more compatible with Zellweger syndrome.…”

Section: Discussionsupporting

confidence: 60%

“…Although the patient of Vuia et a1 [20] was diagnosed (despite the patient's sex) as having a variant of Lowe's syndrome, the brain findings seem more compatible with Zellweger syndrome. The globoid cells in our patients were similar in many respects to the characteristic cells of Krabbe's disease, and particularly to the experimental globoid cells of Austin and Lebfeldt [2].…”

Section: Discussionmentioning

confidence: 80%

Globoid cells, glial nodules, and peculiar fibrillary changes in the cerebro‐hepato‐renal syndrome of zellweger

León

Grover

Huff

et al. 1977

Annals of Neurology

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In addition to a distinct malformation (pachymicrogyria, heterotaxic lamination of the cerebellar cortex, olivary dysplasia), unusual degenerative changes were found in the nervous system of 2 unrelated babies with the Zellweger syndrome. Cerebral clefts were present in 1 case. In both infants there was neuron loss and accumulation of glial nodules and globoid cells in the gray matter as well as degeneration of the white matter. There was fatty change in astrocytes and diffuse gliosis. Neurons in the column of Clarke and the lateral cuneate nucleus showed peculiar fibrillary changes. Cytoplasmic inclusion bodies were seen in the spinal ganglia. Swelling of cortical astrocytes was remarkable in the older infant. The combination of a rare malformation with the cell changes described here gives the syndrome a unique neuropathological profile.

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“…The degenerative disorder compounds storage as well as cell degeneration and cell death. 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;…”

Section: Biogenesis Of Peroxisomesmentioning

confidence: 99%

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 Neuropathology of a Peculiar Form of Cerebro-Renal Syndrome in a Child

Cited by 13 publications

References 3 publications

Neuropathologic Aspects in Menkes' Kinky Hair Disease (Trichopoliodystrophy) – Menkes' Kinky Hair Disease

Neuropathologic Aspects in Menkes' Kinky Hair Disease (Trichopoliodystrophy) – Menkes' Kinky Hair Disease

Globoid cells, glial nodules, and peculiar fibrillary changes in the cerebro‐hepato‐renal syndrome of zellweger

Peroxisomal disorders in neurology

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