1/14. Two cases of mucopolysaccharidosis type III (Sanfilippo). A biochemical study.The mucopolysaccharide and lipid composition of human nervous tissue and viscera from one case of Sanfilippo disease type A and one case of Sanfilippo disease type C, were investigated. In the brain a moderate increase of acid glycosaminoglycans occurred. This phenomenon was much more pronounced in the viscera, especially in the liver. In all tissues this increase was mainly due to an accumulation of heparan sulphate. Changes in lipid composition were noted, but can be regarded as secondary effects. The biochemical results reported also suggest some general conclusions. (a) AGAG and lipid analyses do not permit differentiation between the subtypes of Sanfilippo disease. (b) The differences in lipid composition can probably be considered as consequences of variation in secondary effects. (c) The severe demyelination in brain correlates well with the biochemical lipid analysis. However, in other instances it remains difficult to bridge the gap still existing between some morphological and biochemical data.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/14. Treatment of mucopolysaccharidosis: clinical and biochemical aspects of leucocyte transfusion as compared with plasma infusion in patients with Hurler's and Scheie's syndromes.The therapeutic effectiveness of leucocyte transfusion (LT) was compared with that of plasma infusion (PI) clinically by range of motion (ROM) of joints and biochemically from the standpoint of alpha-L-iduronidase activity and urinary excretion of acid mucopolysaccharides (AMPS) in 2 patients with Hurler's and Scheie's syndromes. Both syndromes are considered to be due to the lack of alpha-L-iduronidase activity, a congenital metabolic disorder. As a result, leukocyte transfusion surpasses plasma infusion with respect to enzyme content, the grade and duration of clinical improvement in the stiffness of joints. Clinical improvement in the stiffness of joints was correlated with the degradation of AMPS when the ratio of urinary AMPS fragments to the total large molecule AMPS has become 50% or more after the leucocyte transfusion and plasma infusion.- - - - - - - - - - ranking = 564.3018811298keywords = metabolic disorder (Clic here for more details about this article) |
3/14. A clinical and histopathological study of Francois-Neetens speckled corneal dystrophy.A 57-year-old black man had Francois-Neetens speckled dystrophy of the cornea and orbital phycomycosis. Examination of family members confirmed an auto-somal-dominant pattern of inheritance. light and electron microscopic study of the cornea of a blind eye disclosed that the corneal opacities were represented by swollen, vacuolated keratocytes filled with histochemically demonstrable acid mucopolysaccharide and complex lipids. Thus, this dystrophy may represent a dominantly inherited metabolic disorder confined to the cornea.- - - - - - - - - - ranking = 564.3018811298keywords = metabolic disorder (Clic here for more details about this article) |
4/14. The management of otolaryngological problems in the mucopolysaccharidoses: a retrospective review.The mucopolysaccharidoses are rare, genetically transmitted metabolic disorders that affect children early in life. These potentially life-threatening diseases almost invariably involve the auditory apparatus and the upper respiratory tract. Thus, the otolaryngologist is frequently involved in the care of these patients. This paper presents a 10-year retrospective review of the management of these patients at the Hospital for Sick Children. Data concerning auditory and upper respiratory pathology are presented. Results indicate that persistent serous otitis, sensorineural hearing loss, and upper respiratory obstruction leading to sleep apnea, are frequent findings in these patients. Specific recommendations are made with regard to appropriate otolaryngologic intervention in children affected with these diseases.- - - - - - - - - - ranking = 564.3018811298keywords = metabolic disorder (Clic here for more details about this article) |
5/14. A new type of mucolipidosis associated with hereditary thrombocytopathy and color blindness.autopsy findings of a 22-year-old Japanese male who showed the symptoms of both mucopolysaccharidosis and sphingolipidosis are reported. The patient had a gargoyle-like face, bone change with cherry-red spot and absence of mucopolysacchariduria, and moreover accompanied by hereditary thrombocytopathy and color blindness. autopsy findings were almost the same as those of mucopolysaccharidosis, histochemically and electron microscopically. Unique findings were, however, present in the hepatocytes, another inclusion containing dense fine granuloreticular structures was found electron microscopically. Some foamy cells in the lymph nodes, liver including sinusiodal cells, bone marrow and spleen contained intracytoplasmic sudanophilic substance in the form of moderate electron dense globules by electron microscopy. The outstanding finding of the enzymatic activity was the decrease of beta-galactosidase in the liver and brain.- - - - - - - - - - ranking = 0.5keywords = brain (Clic here for more details about this article) |
6/14. New phenotype of adult alpha-L-iduronidase deficiency (mucopolysaccharidosis i) masquerading as Friedreich's ataxia with cardiopathy.Clinical, ultrastructural and biochemical studies are reported in a 42-year-old woman presenting with congenital pes cavus who, at the age of 23 years, developed slowly progressive distal amyotrophies, hypesthesia, bilateral hearing loss and severe cardiopathy leading to death. There were skeletal anomalies, mild reduction of motor NCVs, but no corneal opacity, retinitis pigmentosa, organomegaly or vacuolated lymphocytes. autopsy disclosed severe thickening of fibrous tissues (endocardium, cerebrospinal dura) with accumulation of vacuolated cells containing glycosaminoglycans in numerous membrane-bound cytoplasmic vacuoles, and/or compound multilamellar or zebra-body-like structures. The CNS, in addition to enlarged perivascular lacunes in cerebral white matter with lipid-containing macrophages, showed neuronal lipid storage in thalamus, hypothalamus, hippocampus, brain stem nuclei, spinal motor neurons and Purkinje cell dendrites. Ultrastructurally, lamellated inclusions containing gangliosides were seen in mesenchymal cells, oligodendrocytes, pericytes and schwann cells. Neurons contained abundant ceroid but no lamellated inclusions. neurochemistry revealed decrease of alpha-L-iduronidase activity in brain tissue to 4% of normal, normal activities of other lysosomal enzymes, and normal lipid and ganglioside patterns. While the morphology and neurochemistry data are characteristic of mucopolysaccharidosis i, the phenotype of adult alpha-L-iduronidase deficiency mimicking Friedreich's disease has not been described so far.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
7/14. Myelopathy due to diffuse thickening of the cervical dura mater in Maroteaux-Lamy syndrome: report of a case.A rare case of diffuse thickening of the cervical dura mater leading to cord compression in Maroteaux-Lamy syndrome (mucopolysaccharidosis vi) is reported. Spinal computed tomographic scans after intrathecal metrizamide injection and magnetic resonance images are shown. This condition presents as cervical myelopathy. Early decompression can be beneficial for patients with this infrequent metabolic disorder.- - - - - - - - - - ranking = 564.3018811298keywords = metabolic disorder (Clic here for more details about this article) |
8/14. Neuropathological study and chemico-pathological correlation in sibling cases of Sanfilippo syndrome type B.Pathological and biochemical studies of two sibling cases (18-year-old girl and 16-year-old boy) with Sanfilippo syndrome type B are presented. Pathological study revealed distended neurons and neuronal processes with inclusions throughout the CNS and the visceral organs, and neuronal loss and corresponding gliosis. The authors paid particular attention to atrophic changes in the thalamus and to "dissociation gliomyelinique" in the cerebral white matter. Histochemistry and electron microscopy revealed regional differences in stored materials. Biochemical studies revealed an accumulation of glycosaminoglycans in the CNS and abnormalities in the lipid metabolism in the brain and visceral organs. A protein assay of the cerebrum showed increased glial fibrillary acidic protein and low levels of myelin basic protein in the white matter.- - - - - - - - - - ranking = 0.5keywords = brain (Clic here for more details about this article) |
9/14. Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver.An adult patient with macular cherry-red spots, a gargoyle-like physical appearance, cerebellar ataxia, myoclonus, convulsive seizures, and pyramidal tract signs showed a profound deficiency of beta-galactosidase in liver and brain. Thrombocytopathy of undetermined etiology was evident since childhood, and the patient died of intracranial bleeding at age 22. Cerebral ganglioside pattern was normal. Hepatic mucopolysaccharides were not increased. GM1-gangliosidosis and mucopolysaccharidosis were ruled out by those analytical data. However, a large amount of amylopectin-like polysaccharide was found to be accumulated in liver. Hepatocyte contained numerous inclusion bodies with granulofibrillary structure similar to Lafora bodies, corpora amylacea, and inclusion bodies in glycogenosis type IV. This case seems to represent a new inborn metabolic disease closely related to GM1-gangliosidosis and mucopolysaccharidosis. The primary metabolic defect is not known at present.- - - - - - - - - - ranking = 0.5keywords = brain (Clic here for more details about this article) |
10/14. Storage of lipofuscin in neurons in mucopolysaccharidosis. Report on a case of Sanfilippo's syndrome with histochemical and electron-microscopic findings.A histochemical and ultrastructural study was made on the brain of a 23-year-old man with Sanfilippo's syndrome. In accordance with previous reports the cortical nerve cells contained a PAS-positive lipid storage substance. This showed intense autofluorescence in UV-light and was positive with various stains for lipofuscin. The storage material appeared ultrastructurally as inclusion bodies composed of short lamellated membranes, granular material, and vacuoles. In addition, concentrically and transversely lamellated membranous cytoplasmic bodies were observed in the nerve cells. It is concluded that the PAS-positive lipid storage material in the neurons was composed partly of lipofuscin in addition to other lipids presumably glycosphingolipids.- - - - - - - - - - ranking = 0.5keywords = brain (Clic here for more details about this article) |
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