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1/21. Psychosocial reactions in the spouses of patients suffering polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.

    Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL) is a rare hereditary disease affecting both brain and bones. Skeletal symptoms begin in early adulthood and neuropsychiatric symptoms at approximately age 30. Progressive dementia associated with an accentuated frontal lobe syndrome handicaps the patients. The author describes inadequate psychosocial reactions of the spouses of 21 Finnish PLO-SL patients. The reactions included rejection and divorce in 8 cases and rejection without divorce in 1 case. jealousy, violence, and alcoholism were common in male spouses. The author suggests that some of the spouses' negative psychosocial reactions may be lessened if the family is informed early about the nature of the disorder.
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2/21. adrenoleukodystrophy--early ultrastructural changes in the brain.

    A light and electron microscopic study was performed on the cerebral white matter in a case of adrenoleukodystrophy (ALD) with peculiar symptoms of olivopontocerebellar atrophy. The affected white matter on the light microscope had many macrophages containing characteristic membrane-bound linear inclusions. The unaffected white matter on the light microscope demonstrated the following ultrastructural changes: (1) slight but definite degeneration of myelin sheaths scattered among apparently normal myelinated axons; (2) oligodendroglia-like cells containing membrane-free intracytoplasmic inclusions; and (3) many swollen astrocytes containing the same membrane-bound linear inclusions as those in the macrophages within the affected white matter. The mechanism of demyelination in ALD is also discussed.
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keywords = macrophage
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3/21. Alzheimer's tangles in sudanophilic leukodystrophy.

    We present a case of infantile leukodystrophy with some sudanophilic features. A normally developed male infant did well until age 15 months. Then he had episodes of myoclonus, reversal of intellectual development, rigidity with decerebrate posturing and epilepsy, which became severe. He died at age 7 years, 10 months. On autopsy, the brain was normally developed, but there was severe demyelination and gliosis throughout the white matter; the cerebellar cortex showed atrophy. The striking, unexpected finding was the presence of numerous Alzheimer's tangles containing paired helical filaments in electronmicroscopic examination, not only in the cerebral cortex but also in the brainstem, basal ganglia, and hypothalamus including the nucleus basalis of Meynert. Other unusual findings were hyperostosis of the skull and the appearance of macrophages containing PAS-positive granules in the reticuloendothelial system in many organs.
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keywords = macrophage
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4/21. Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity.

    Neonatal hypotonia, seizures beginning at 5 days, and severe retardation were noted in a girl with normal karyotype and biochemical evidence of impaired adrenal function. Postmortem examination at 14 months revealed malformative and destructive lesions of central gray and white matter, atrophy of adrenal cortex with striated adrenocortical cells, hepatic fibrosis, and PAS-positive macrophages in several organs. Pathologically and clinically, this patient most closely approximated neonatal adrenoleukodystrophy (ALD) and differed strikingly from X-linked childhood ALD. In contrast, biochemical changes resembled the abnormalities observed in X-linked ALD and differed from those in the neonatal form. The very-long-chain fatty acid accumulation characteristic of both disorders was demonstrated, but unlike neonatal ALD, the levels or metabolism of plasmalogens, pipecolic acid, phytanic acid, and bile acid intermediates were normal, and peroxisomes in a liver biopsy specimen were present in normal number and appeared enlarged. While the case resembles the recently reported entity of peroxisomal acyl-coa oxidase deficiency, assignment to this category was excluded by immunoblot studies on postmortem liver, which revealed normal amounts of this enzyme. Correlation of clinical, morphologic, and biochemical data suggests that this case is an example of a so-far undescribed entity, and reinforces the concept that the phenotypic spectrum of peroxisomal disorders is wider than realized.
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5/21. adrenoleukodystrophy in an adult female. A clinical, morphological, and neurochemical study.

    A 43-year-old female with adrenoleukodystrophy (ALD) is described, who developed spastic tetraparesis, suffered grand mal seizures, and became stuporous and demented during the last 5 years of her life. Computed tomography revealed symmetrical hypodense lesions in the peritrigonal regions. adrenal insufficiency was not evident except for skin pigmentation. The ultrastructure of a rectal biopsy specimen showed inclusions with lamellae and interspersed clefts in macrophages of the submucosal layer. At autopsy, the adrenals were found to contain large foam cells filled with similar inclusions. The brain cortex and the spinal cord were histologically normal. However, cerebral white matter exhibited widespread demyelination which spared only the arcuate fibres. In regions of less severe demyelination scattered inflammatory cells were seen. On electron microscopy, aggregates of typical paired leaflets with distinct intermediate lines were demonstrated in perivascular macrophages. Histochemical study showed these cells to contain free as well as esterified cholesterol. Gas chromatographic analysis of very long chain fatty acids (VLFA) from the demyelinated cerebral white matter showed a marked increase of C26:0 fatty acid in cholesterol esters and above-normal values for C24:0 and C24:1 in gangliosides. It is suggested that the condition was a heterozygote form of X-linked ALD. patients with neurodegenerative symptoms with or without adrenal insufficiency can easily be screened for X-linked ALD by VLFA analysis in blood or cultured fibroblasts.
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6/21. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.

    Eight new cases of autopsy-confirmed or suspected neonatal adrenoleukodystrophy (NALD) are presented together with new biochemical data on very-long-chain fatty acids (VLCFA) and plasmalogens and a review of all previously published cases. The clinical, biochemical, and histopathologic abnormalities characteristic of this newly recognized form of adrenoleukodystrophy are analyzed in detail and compared to the principal characteristics of the similar disorder, the cerebrohepatorenal syndrome of Zellweger (ZS). Using strict pathologic criteria for the diagnosis of NALD, we find that, despite many clinical resemblances, NALD and the ZS are distinguishable on the basis of histology and peroxisomal biochemistry. patients with NALD demonstrate adrenal atrophy, systemic infiltration by abnormal lipid-laden macrophages, and elevations of saturated VLCFA. In contrast, patients with ZS have chondrodysplasia, glomerulocystic disease of the kidney, central nervous system dysmyelination, and elevations of unsaturated as well as saturated VLCFA, but they lack adrenal atrophy. We conclude that NALD and the ZS probably represent at least two different genetic defects.
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keywords = macrophage
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7/21. adrenoleukodystrophy. Report of an autopsy case with adrenoleukomyeloneuropathy.

    The patient was a 27-year-old man who developed spastic quadriplegia and cerebral disorders. Initial signs were gait disturbance, spastic paraplegia, and sphincter disturbance; these occurred when he was 21. Upon autopsy, the white matter of the brain and spinal cord showed diffuse demyelination, and the adrenal glands and right testis were atrophic. Cytoplasmic striations seen by light microscopy and trilamellar inclusions seen by electron microscopy were found in ballooned adrenocortical cells. Trilamellar inclusions were also observed in macrophages of the affected cerebral white matter. Biochemical analysis disclosed a high ratio (0.27) of hexacosanoic acid (C26:0) to docosanoic acid (C22:0) in cerebrosides and sulfatides of the cerebrum. The histological features as well as the result of biochemical analysis were those of classical adrenoleukodystrophy. However, the time of the onset of clinical signs and the duration of the disease were different in the present case from classical adrenoleukodystrophy. The case presented here was diagnosed as adrenoleukomyeloneuropathy, which is a variant of adrenoleukodystrophy.
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keywords = macrophage
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8/21. Pigmentary type of orthochromatic leukodystrophy (OLD): a new case with ultrastructural and biochemical study.

    A 34-year-old woman with no family history of orthochromatic leukodystrophy (OLD) developed progressive intellectual deterioration, a frontal syndrome and spastic tetraparesis. She died four years after the onset of the clinical illness. Neuropathological studies included light and electron microscopy of cerebral and nerve biopsies, and a complete postmortem examination. light microscopy demonstrated OLD with pigmented macrophages and glial cells. Electron microscopy showed electron-dense, membrane-bound intracytoplasmic lamellar inclusions with curved or straight parallel arrangement, or fingerprint pattern, in white matter macrophages, astrocytes and oligodendrocytes. Cortical cells contained lipofuscin which was normal in type and amount. This suggests that the material in white matter glial cells and macrophages is ceroid pigment, however, the distribution is not that seen in ceroid-lipofuscinosis. Similar inclusions have been found in oligodendrocytes in other forms of OLD. Biochemical study did not show evidence of demyelination. galactolipids were normal. Polyunsaturated fatty acids were decreased. The most striking feature was an increase in plasmalogens.
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ranking = 63356.448637516
keywords = macrophage
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9/21. Ocular pathologic findings in neonatal adrenoleukodystrophy.

    Ocular pathology in a case of neonatal adrenoleukodystrophy (ALD) showed marked degeneration of photoreceptor cells throughout the retina including the macula. Macroscopically visible white opacities in the cortical vitreous of the posterior fundus were shown immunohistochemically and ultrastructurally to be macrophages containing bileaflet inclusions, a finding previously unreported. Additional findings included extensive loss of the retinal nerve fiber and ganglion cell layers, optic nerve degeneration, and bileaflet inclusions in retinal pigment epithelial cells and macrophages of the retina and optic nerve. Focal retinal pigmentary changes were observed that histologically were different from retinitis pigmentosa.
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keywords = macrophage
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10/21. zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy.

    patients with the cerebrohepatorenal syndrome of Zellweger lack peroxisomes and certain peroxisomal enzymes such as dihydroxyacetone phosphate acyltransferase in their tissues. Deficiency of this enzyme, which is necessary for glycerol ether lipid synthesis, provides a biochemical method for recognizing patients with subtle manifestations of zellweger syndrome and suggests the utility of exogenous ether lipid precursors as a therapeutic strategy for these children. We describe the results of glycerol ether lipid supplementation to two children, one with classic zellweger syndrome and 9% of control fibroblast dihydroxyacetone phosphate acyltransferase activity, and one with mild facial manifestations, wide sutures, hypotonia, developmental delay, hepatomegaly, peripheral retinal pigmentation, and 50% of control fibroblast dihydroxyacetone phosphate acyltransferase activity. An increase in erythrocyte plasmalogen levels following therapy was clearly demonstrated in the milder patient, and neither patient showed evidence of toxicity. Evaluation of therapy by comparison to the usual clinical course of zellweger syndrome was not helpful because of the variability and incomplete documentation of 90 previously reported cases. The literature survey did provide criteria for classic zellweger syndrome, which include hypotonia with or without deformation of limbs, large fontanels and split sutures, prominent forehead, flattened facial profile with hypoplastic supraorbital ridges, anteverted nares, highly arched palate, cryptorchidism or labial hypoplasia, hepatomegaly or elevated liver enzymes, peripheral pigmentation of the retina, renal cortical cysts, and characteristic neuropathology involving decreased myelinization, abnormal neuronal migration, and sudanophilic macrophages. Less severe patients, as exemplified by our case 2 and others from the literature, will not have all the classic features and can be recognized only by a growing panel of biochemical indicators. Our patient studies illustrate the complexity of designing comprehensive therapy for Zellweger-like conditions, suggest other diseases that may involve peroxisomal alterations, and emphasize the need for multicenter, collaborative studies to evaluate biochemical heterogeneity and therapy of peroxisomal disorders.
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ranking = 21118.816212505
keywords = macrophage
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