1/14. Type I sialidosis: a clinical, biochemical and neuroradiological study.We report biochemical, morphological and neuroradiological findings in a 40-year-old woman affected with type I sialidosis. The clinical symptoms, consisting of a cerebellar syndrome, were first noted at the age of 17 years. The macular cherry-red spot was first observed after 23 years of disease. A CT scan performed at 21 years of age showed enlargement of the fourth ventricle. Nuclear magnetic resonance imaging of the brain performed at the age of 40 showed severe atrophy of the cerebellum and pontine region; atrophy of cerebral hemispheres and of the corpus callosum was also observed. We emphasize the prolonged course of illness in this patient, observed over a long period of time. Of particular interest is the neuroradiological study showing our findings both at the beginning of the disease and after 20 years.- - - - - - - - - - ranking = 1keywords = cherry (Clic here for more details about this article) |
2/14. Sialidosis type I (cherry red spot-myoclonus syndrome).Sialidosis type 1 or the cherry red spot-myoclonus syndrome (CRSM) is an autosomal recessive disorder with the onset in adolescence of myoclonus and gradual visual failure. Here, a case of CRSM in a 12-year-old Bengali Muslim girl with the history of myoclonic jerks of limbs and the body since last 2 years and gradual impairment of vision since last one year is presented with a brief review of the literature.- - - - - - - - - - ranking = 5keywords = cherry (Clic here for more details about this article) |
3/14. Sialidosis type I: pathological study in an adult.Histological and ultrastructural findings observed throughout the nervous system and the extranervous organs in a case of sialidosis type I, also known as normosomatic group, are reported. The patient was a 22-year-old male with non-familial progressive myoclonus, macular cherry-red spot, moderate cerebellar syndrome and normal intelligence. Biochemical study showed an alpha-N-acetylneuraminidase deficiency in cultured fibroblasts. A complete and early autopsy was performed. Neuropathological study showed two prominent lesions: the first one was a fine cytoplasmatic vacuolation in several neurons of the cortex, basal ganglia and thalamus and the second one was a diffuse neuronal intracytoplasmic storage of lipofuscin-like pigment (LLP). As for the extranervous organs the main light and electron microscope findings were observed in the hepatocytes and in the Kupffer's cells, which showed an enlarged cytoplasm and lipopigment granules in different amount. vacuoles containing dense lamellar bodies were found in tubular epithelial cells of the kidney. To our knowledge this is the first complete autoptic study of a case of sialidosis type I.- - - - - - - - - - ranking = 1keywords = cherry (Clic here for more details about this article) |
4/14. neuraminidase deficiency: case report and review of the phenotype.A 12 year old boy with neuraminidase deficiency (sialidosis, mucolipidosis I) is described. His clinical features included coarse facies, cherry red spot, ataxia, myoclonus, and dysotosis multiplex. The level of neuraminidase activity in cultured fibroblasts was very low and intermediate levels were observed in both parents. The clinical disorders associated with neuraminidase deficiency are reviewed.- - - - - - - - - - ranking = 1keywords = cherry (Clic here for more details about this article) |
5/14. 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 = 5keywords = cherry (Clic here for more details about this article) |
6/14. beta-galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature.Six juvenile and adult patients with progressive neurological diseases and beta-galactosidase deficiency were reported. Any diseases known to date were denied. These cases together with ten case reports in the literature were reviewed and were classified into three groups from clinical and biochemical points. Group 1 patients were characterized by progressive ataxia and myoclonus with gargoyl changes and macular cherry-red spots. In this syndrome beta-galactosidase activity seems to be secondarily affected by other biochemical defects. A group 2 patient showed similar neurological manifestations without gargoyle changes or macular cherry-red spots. patients with these clinical features not associated with beta-galactosidase deficiency have also been described in the literature. Group 3 patients had progressive pyramidal and extrapyramidal disease without gargoyl changes or macular cherry-red spots. These cases may represent juvenile and adult type GM1-gangliosidosis. Accumulation of GM1 has not yet been demonstrated.- - - - - - - - - - ranking = 3keywords = cherry (Clic here for more details about this article) |
7/14. A case of neuraminidase deficiency associated with a partial beta-galactosidase defect. Clinical, biochemical and radiological studies.neuraminidase deficiency towards fetuin, 2 leads to 3 sialyllactose and 2 leads to 6 sialyllactose was found in cultured skin fibroblasts from a 10-year-old Japanese girl who exhibits craniofacial dysmorphism, a short neck, vertebral and pelvic deformities and macular cherry-red spots. neuraminidase deficiency in this case seems the primary enzyme defect because the enzyme activity of her parents was intermediate. In addition, beta-galactosidase in leukocytes and cultured skin fibroblasts from the patient was found to be severely deficient, but could be detected in serum and urine. In the parents, beta-galactosidase activity was normal. There were moderately increased levels of urinary sialic acid-rich oligosaccharides and glycopeptides in the patient. The clinical and biochemical observations suggest that this case is very close to mucolipidosis I.- - - - - - - - - - ranking = 1keywords = cherry (Clic here for more details about this article) |
8/14. Mucolipidosis I--a sialidosis.Mucolipidosis I is characterized by Hurler-like features and skeletal dysplasia with a cherry-red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid-containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an alpha-N-acetylneuraminidase (sialidase) was found. Mucolipidosis I thus appears to be a distinct disorder of complex carbohydrate catabolism caused by the genetic deficiency of a neuraminidase.- - - - - - - - - - ranking = 1keywords = cherry (Clic here for more details about this article) |
9/14. Sialidosis (mucolipidosis I).The term "sialidosis" is suggested for the deficiency of alpha-neuraminidase activity in peripheral leukocytes and cultured fibroblasts which results in a considerable urinary excretion of sialyl-oligosaccharides. This defect was found in two siblings with a mild form of mucolipidosis I. 12 sialyl-acid rich oligosacharides have been isolated from the urine of the patients. The structure of ten of them has been determined. The studies of the patients show a remarkable variability of the clinical expression of this disease. The two siblings exhibited a progressive reduction of visual acuity, red-green blindness, a bilateral cherry red macular spot, punctate opacities of the lens, and minimal neurological symptoms. Morphologically, vacuolized lymphocytes, refringent inclusions in cultured fibroblasts, numerous cytoplasmatic inclusions containing a fine protein-like reticulum and some osmiophilic granules mainly in Kupffer's cells were found.- - - - - - - - - - ranking = 1keywords = cherry (Clic here for more details about this article) |
10/14. Infantile type 2 sialidosis in a Pakistani family--a clinical and biochemical study.Two siblings of consanguineous parents presented in infancy with failure to thrive, mild coarsening of facies, visceromegaly and corneal opacities. One showed reduced hepatic beta-galactosidase activity suggesting a GM1-gangliosidosis variant. Both patients developed progressive coarsening of facies, slow neurological deterioration, macular cherry-red spots and punctate cataracts over the first decade. urine screening with thin layer chromatography revealed abnormal excretion of two slow-moving oligosaccharide bands and leukocyte and fibroblast neuraminidase activity was grossly reduced. The mother, phenotypically normal, showed levels of neuraminidase compatible with heterozygosity. These patients have primary neuraminidase deficiency. The clinical and biochemical variables are reviewed.- - - - - - - - - - ranking = 1keywords = cherry (Clic here for more details about this article) |
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