1/11. ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome).ichthyosis and neutral lipid storage disease (INLSD) is a nonlysosomal, multisystemic, triglyceride storage disorder. It is characterized by nonbullous congenital ichthyosiform erythroderma (NBCIE), leukocyte vacuoles, and variable involvement of the liver, muscles, eyes, and central nervous system. In our patient fat-containing vacuoles were also demonstrated in the epidermis. In patients with NBCIE, the diagnosis of INLSD is readily made by direct examination of a peripheral blood smear demonstrating cytoplasmic lipid vacuoles within most granulocytes and monocytes.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/11. Dorfman-Chanarin syndrome. A case report and a review.Dorfman-Chanarin syndrome in two sisters of Jewish Iraqi origin is reported. This heritable disorder of the metabolism of neutral lipids was manifested by congenital ichthyosis, vacuoles in the leukocytes, and variable involvement of liver, muscle, central nervous system, and the auditory system. In two asymptomatic members of the family leukocyte vacuoles were found as the only sign of the syndrome. Clinical, pathologic, ultrastructural, and biochemical findings are described. Previous reported cases are reviewed.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/11. On the ultrastructural diversity and essence of residual bodies in neuronal ceroid-lipofuscinosis.In 4 patients with neuronal ceroid-lipofuscinoses (NCL) (3 patients with the junvenile type, 1 patient with the late infantile type), the ultrastructural spectrum of residual bodies in the central and peripheral nervous system presented curvilinear profiles in all cases and regions investigated and many more ultrastructural patterns within and beyond regions commonly accessible to biopsy, probably due to age dependence, local tissue and cellular biochemical factors. Sampling from basal ganglia especially yielded combined curvilinear-fingerpint bodies, from peripheral ganglia additional membranous bodies. Residual bodies in NCL were present in almost every cell type, similar to the distribution of regular lipofuscin. Although the classical subgroups of NCL contain electronmicroscopically well defined residual bodies, permitting distinction of the late infantile type from the juvenile type, the ultrastructural differences are more of a quantitative than of a qualitative nature. However, they are not pathognomonic. N.m.r. spectra of ceroid and lipofuscin support the concept of their biochemical similarity, and argue against the proposition that they contain a single major component.- - - - - - - - - - ranking = 0.33344356213509keywords = nervous system (Clic here for more details about this article) |
4/11. Juvenile neurolipidosis of Bernheimer-Seitelberger's type. Histopathological and biochemical findings.Two children are reported, who became diseased at the age of 4 and 2 years, respectively, with progressive upper motor neuron symptoms leading to severe disability within a few years. The boy died at age 10 and autopsy disclosed a severe gangliolipidosis throughout the central nervous system, maximal in the brain stem and cerebrellum, corresponding with his early and dominantly bublar symptoms. The girl is still living, although severly disabled. The etiology was confirmed through biochemical studies which showed lower activity of galactosaminidase and galactosidase in frontal lobe tissue from the boy, in liver tissue from the girl. The activity of galactosaminidase A isoenzyme was more than 50 per cent lower in serum from the girl and in serum from healthy relatives of the boy, the father, mother and one of two brothers. Furthermore, the galactosidease activity was within or below the lower normal range limit in leucocytes from relatives of the boy with exception of the father. This abnormality was also encountered in serum from our girl patient.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/11. depression in a patient with dementia secondary to cerebrotendinous xanthomatosis.The occurrence of depression in a patient with pre-existing dementia, associated with a rare neurological disorder, is described. Cerebrotendinous xanthomatosis is a genetically transmitted disease that is associated with deposition of cholestanol in the central nervous system and Achilles tendons. A focus on the often unusual presentation of combined major depression and dementia is offered as well as the interaction of genetic disorders and psychiatric symptoms. The diagnostic and treatment approach to these patients is discussed in regard to this reported case. Also, there is a review of the importance of recognition of early signs and symptoms of both depression in demented patients and evidences of presenile dementia because the prospects of treatability and reversibility should be a prime consideration for these disorders. This case report illustrates the potential for effectiveness of psychiatric interventions for patients with neurological and genetic disorders.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/11. Hyalinosis cutis et mucosae.Hyalinosis cutis et mucosae is an uncommon genetic disease characterized by accumulation of glycoproteinaceous material not only at mucocutaneous sites but also in salivary glands, central and peripheral nervous systems, eyes, nd other organs and tissues. The course of the disease is protracted, and it is not likely to regress, either spontaneously or with therapy. Although it does not usually result in decreased longevity, the disorder may produce considerable disfigurement and functional impairment. This article documents the case of a 5-year-old girl who presented with vocal weakness, misarticulations, and hoarseness; hypopigmented scarring of the arms and pubis; fibrotic thickenings of the oral and laryngeal mucosa; and serous otitis media. A tongue biopsy revealed diffuse hyaline deposits throughout the connective tissue and in a lamellar pattern about blood vessels. A diagnosis of hyalinosis cutis et mucosae was made.- - - - - - - - - - ranking = 0.33344356213509keywords = nervous system (Clic here for more details about this article) |
7/11. Paired helical filaments in neurovisceral lipidosis (juvenile dystonic lipidosis).Paired helical filaments, the ultrastructural substrate of Alzheimer neurofibrillary change, were found in great number in a 29-year-old patient with neurovisceral lipidosis. The abnormal filaments were frequently present in the distended neurons and axons. The clinical, pathological, and ultrastructural findings were consistent with juvenile dystonic lipidosis, which is considered to be a variant of type C Niemann-Pick disease. The association of Alzheimer neurofibrillary change and central nervous system lipidosis is reviewed.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/11. adult ceroid-lipofuscinosis (Kufs' disease) in two brothers. Retinal and visceral storage in one; diagnostic muscle biopsy in the other.Two brothers developed a neurological condition characterized by homochrony and homotypy: the first symptoms in both were generalized epileptic seizures, occurring at about the same age (30 years in the elder, 32 years in the younger), followed by a cerebellar syndrome with myoclonic jerks and some extrapyramidal symptoms. The elder of the two boys died at the age of 33 years. histology showed extensive storage of ceroid-lipofuscin in the central nervous system (curvilinear bodies), in hepatocytes, in heart muscle and in the retina. In the younger boy, still living, a muscle biopsy (peroneal muscle) revealed accumulation of membrane-bound osmiophilic inclusions with curvilinear profiles. Retinal storage in Kufs' disease has never been documented. Muscle biopsy as a diagnostic tool for Kufs' disease has not been reported.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/11. Lipidosis with a predominant storage of phosphoglycerides (phospholipidosis type II--Baar, Wiedemann).A case of a 27 month old girl suffering from a rare form of lipidosis is described. Clinical symtoms consisted of a moderate hepatosplenomegaly and a progressive psychomotor retardation. Bioptical examination of the liver, appendix and skin revealed a pronounced lipid storage in histiocytes, hepatocytes, vascular endothelium and in peripheral nervous system. Histochemically, a generalized storage of phosphoglycerides and cholesterol was found. It was accompanied with a moderate amount of sphingomyelin and a variable amount of glycolipids (predominantly glycosphingolipids), the latter being stored mainly in the peripheral nervous system and in the vascular endothelium. Chromatographically, an increased concentration of lysobisphosphatidic acid and cholesterol could be detected. The ultrastructure of storage cytosomes was rather pleomorphic often with concentrically lamellar appearance. Further details of the investigation are described and the relation of this case to those described by Baar and Hickmans (1956) and Wiedemann et al. (1972) is stressed. Due to a strong evidence that this group of diseases represents a new type of phospholipid storage disease the name "Phospholipidosis Type II" (Baar-Wiedemann) or "Phosphoglyceridosis" is proposed, whereas "Phospholipidosis Type I" or "Sphingomyelinosis" should be reserved for the classical Niemann-Pick complex.- - - - - - - - - - ranking = 0.66688712427019keywords = nervous system (Clic here for more details about this article) |
10/11. Spongy degeneration of the central nervous system (van Bogaert-Bertrand type?) in a newborn infant. A light and electron microscopic study.autopsy findings on a 5 day old infant with hypotonia from birth showed extensive spongy changes of the myelinating tracts within the cerebrum, cerebellum and brain stem. The spongy changes, similar to Van Bogaert-Bertrand disease, resulted from intramyelinic edema. However, unlike the typical forms of this disease, swollen astrocytes with abnormal mitochondria were not found. The relationship of this case to typical forms of Van Bogaert-Bertrand disease is discussed. This case may represent a very early form of Van Bogaert-Bertrand disease or a new pathological entity.- - - - - - - - - - ranking = 4keywords = central nervous system, nervous system (Clic here for more details about this article) |
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