1/19. GM2-gangliosidosis, AB variant: clinico-pathological study of a case.Clinical and neuropathological studies of a case of AB variant GM2-gangliosidosis have been presented. The patient was a 14 months old black female infant who had "black cherry spot" in the retinas. The total activities of beta-galactosidase and N-acetyl-beta-hexosaminidase, as well as the proportion of hexosaminidase a and B components in her serum and leukocytes were normal when the assays were carried out with artificial fluorogenic substrate. diagnosis of GM2-gangliosidosis AB variant was established by an abnormal increase of GM2-ganglioside in the biopsied brain tissue, similar to classical tay-sachs disease. Her clinical manifestation appeared to be similar but somewhat milder than those of classical tay-sachs disease. light microscopic features of the cerebral biopsy were also closely similar to tay-sachs disease and sandhoff disease but gliosis and neuronal loss were less pronounced. Electron microscopic study revealed numerous membranous cytoplasmic bodies (MCB) and zebra bodies in neurons. In addition, varieties of large intracytoplasmic inclusions in astrocytes, a feature distinctly different from classical tay-sachs disease, were observed. Numerous cytoplasmic inclusions were also present in oligodendroglia, pericytes and microglial cells.- - - - - - - - - - ranking = 1keywords = gangliosidosis (Clic here for more details about this article) |
2/19. Pigment variant of neuronal ceroid-lipofuscinosis (Kufs' disease).A case of pigment variant of Kufs' disease is presented. The nature of the extra-neuronal pigment is discussed. Despite some of the histochemical discrepancies that existed between this pigment and the material that had accumulated in the nerve cells, they seemed to be ultrastructurally related. The hepatocytes contained numerous heterogeneous cytosomes, some of which resembled the storage material of Niemann-Pick's disease. Clinically the syndrome may present with progressive ataxia, spontaneous and reflex, coarse myoclonic jerks and eventual mental deterioration as well as epilepsy and muscle wasting. The pigment variant cannot be distinguished from Kufs' disease except pathologically.- - - - - - - - - - ranking = 0.0093112140672606keywords = gm (Clic here for more details about this article) |
3/19. Fine structure of cutaneous nerves in ganglioside storage disease.skin punch biopsies of six children suffering from infantile or late onset tay-sachs disease, juvenile sandhoff disease, or GM gangliosidosis type I, contained axons which, when viewed with the electron microscope, were distended by large amorphous black deposits. These are nonspecific residual bodies. Their large numbers indicate severe disturbance of the nerve cell and may be part of the dying back process. The three cases with tay-sachs disease had also axonal zebra or complex membranous bodies which appeared to be specific. Cytoplasmic vacuolation of other cells was a feature in the patient with GM1 gangliosidosis. Biopsies of three parents were negative.- - - - - - - - - - ranking = 0.33333333333333keywords = gangliosidosis (Clic here for more details about this article) |
4/19. Clinicopathologic correlation of lipidization and detachment of the retinal pigment epithelium.A 49-year-old woman had a few small drusen-like lesions and one larger area of depigmentation in the right fundus. The pin-point lesions corresponded to single enlarged retinal pigment epithelial cells with lipid accumulation and the larger area represented a small, localized retinal pigment epithelial detachment (soft druse). Lipoidal degeneration of individual retinal pigment epithelial cells may be a mechanism of nodular drusen formation. The soft druse was associated with thickening of the basement membrane of the retinal pigment epithelium.- - - - - - - - - - ranking = 0.010475115825668keywords = gm (Clic here for more details about this article) |
5/19. Congenital amaurotic idiocy--a pathological, histochemical, biochemical and ultrastructural study.A case of congenital amaurotic idiocy, a subgroup of the neurovisceral lipidoses, is described. This is a rare condition of which only five cases have been reported previously. The brain was small and firm with marked neuronal loss and gliosis. Granular material with histochemical properties of the ceroid-lipofuscin group of lipopigments was found deposited within astrocytes, macrophages and residual brain stem neurons. Cells of the mononuclear phagocyte system within the liver, spleen, thymus and lungs contained similar material. Ultrastructurally this substance appeared as intracytoplasmic membranous and granular deposits within limiting membranes, and biochemical analysis of formalin-fixed tissue did not identify a specific material. Comparison is made with the Batten group of disorders.- - - - - - - - - - ranking = 0.0011639017584076keywords = gm (Clic here for more details about this article) |
6/19. Ceroidosis in the "brown bowel syndrome".A middle-aged patient with "brown bowel syndrome" or gastrointestinal ceroidosis manifested as malabsorption of undetermined cause is described. autopsy revealed involvement of the entire gastrointestinal tract and unusual cardiac findings. Microscopically, the pigment responsible for the discoloration is a lipofuchsin that is deposited in the smooth muscle cells of the gastrointestinal tract. In all reported cases, ceroidosis was associated with some abnormality of the gastrointestinal tract--that is, malabsorption, steatorrhea, or gross local disease--with the possible exception of prolonged malnutrition. This case is also unusual because of the unexplained multifocal proliferative endocarditis. vitamin e deficiency may be the common denominator of all these various disorders.- - - - - - - - - - ranking = 0.0011639017584076keywords = gm (Clic here for more details about this article) |
7/19. Pigmentoarchitectonic pathology of the isocortex in juvenile neuronal ceroid-lipofuscinosis: axonal enlargements in layer IIIab and cell loss in layer V.Pigment preparations of 800 micrometer thickness and Golgi studies of the isocortex in juvenile neuronal ceroid-lipofuscinosis, morphologically proven by electron microscopy, revealed: 1. giant axonal dilatations of IIIab-pyramids. These expansions exceeded by far those found in pyramidal cell axons of other isocortical layers. 2. severe numerical reduction of neurons in the ganglionic layer.- - - - - - - - - - ranking = 0.0058195087920379keywords = gm (Clic here for more details about this article) |
8/19. Pigment variant of lipofuscinosis.A woman had a progressive neurologic syndrome beginning at age 3 and lasting for three decades. Clinical manifestations included severe mental deterioration, spastic paralysis, myoclonus, and tremors. A postmortem examination showed ubiquitous infiltration of neurons by lipofuscin and deposits of pigment in the globus pallidus and substantia nigra, as well as senile changes of nerve cells. Biochemical investigation of brain lipids showed an alteration of fatty acid composition of serine phosphoglycerides.- - - - - - - - - - ranking = 0.0058195087920379keywords = gm (Clic here for more details about this article) |
9/19. Atypical neuronal ceroid-lipofuscinosis.We describe the clinical, pathologic, and ultrastructural findings in a case of juvenile onset neuronal ceroid-lipofuscinosis without visual symptoms or retinal abnormalities. The histochemical and ultrastructural characteristics of the neuronal lipopigment were similar to those in typical cases of neuronal ceroid-lipofuscinosis. Atypical neuronal ceroid-lipofuscinosis may be distinguished histochemically, ultrastructurally, and clinically from another disorder called juvenile dystonic lipidosis, with which it has been confused.- - - - - - - - - - ranking = 0.0011639017584076keywords = gm (Clic here for more details about this article) |
10/19. Clinical and extraneural histologic diagnosis of neuronal ceroidlipofuscinosis.Neuronal ceroid-lipofuscinosis is manifested by visual and intellectual deterioration and seizures. Autofluorescent lipopigments are found in neural and many nonneural tissues, with characteristic staining and ultrastructural properties. Presumptive diagnosis can usually be made on the basis of history, physical examination, and electrodiagnostic tests, but in the absence of a specific biochemical defect, histologic confirmation is essential. A 6-year-old boy with the clinical appearance of the juvenile form of the disease had sea-blue histiocytes in the bone marrow, and curvilinear profiles in ultrastructural inclusions in skin biopsy tissue, cultured skin fibroblasts, and bone marrow cells.- - - - - - - - - - ranking = 0.0011639017584076keywords = gm (Clic here for more details about this article) |
| | Next -> |