1/13. Mucolipidosis type III. Multiple elevated serum and urine enzyme activities.The clinical characteristics of a 16-year-old white girl with mucolipidosis type III included early growth retardation, severe dysostosis multiplex, restricted joint motion, tight indurated skin, swollen eyelids, late-onset hepatosplenomegaly, umbilical hernia, corneal opacities, and only slightly impaired mental and neurological development. Cultured fibroblasts contained numerous coarse perinuclear retractile inclusions. Biochemical findings indicated the following: (1) normal levels of urinary acid mucopolysaccharides, (2) deficient activities of multiple lysosomal hydrolases in cultured fibroblasts, (3) elevated activity levels of seven serum lysosomal hydrolases, and (4) elevated activity levels of four lysosomal hydrolases in urine.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
2/13. Biochemical and ultrastructural diagnostic problems in mucolipidoses.Biochemical and ultrastructural investigations were made in 2 children suffering from mucolipidosis type III. Among the lysosomal hydrolases the activity of beta-galactosidase and alfa-fucosidase diminished in the homogenate of the peripheral leukocytes in case I. The activity of serum and leukocyte arylsulfatase was normal. By electron microscopy typical storage organellums for mucolipidosis were detected in different biopsy materials--liver, skin, conjunctival ones--and in the cytoplasm of the peripheral lymphocytes and leukocytes. Definitive diagnosis was given by the specific electron microscopic investigations detecting the typical storage patterns for mucolipidosis.- - - - - - - - - - ranking = 220.80984328365keywords = leukocytes (Clic here for more details about this article) |
3/13. Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy.A 7-year-old Ashkenazi Jewish boy with normal early development started to regress at 8 months of age and made no further developmental progress. Corneal clouding was noted at age 10 months. Corneal and conjunctival biopsy at 14 months, cerebral biopsy at 24 months, and fibroblast cultures at 32 months showed lysosomal inclusions, suggesting the storage of lipid-like and mucopolysaccharide-like material. In the brain, dense fluorescent inclusions resembled those in ceroid-lipofuscinosis. Total ganglioside content of white matter was raised, but the pattern was normal. The level of nonlipid hexosamine in the brain was normal. The cornea and conjunctiva contained electronlucent vacuoles resembling those in the mucopolysaccharidoses. cornea, brain, and lymphocytes contained concentric membranous lamellar structures reminiscent of those in the gangliosidoses. The clinical picture and ultrastructural findings support the impression that this case belongs to a new variant of the mucolipidoses, mucolipidosis IV.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
4/13. Mucolipidosis IV. Histopathology of conjunctiva, cornea, and skin.The condition of a 4-year-old white girl of Ashkenazi Jewish parents was diagnosed as mucolipidosis IV on the basis of marked corneal clouding and severe psychomotor retardation, in the absence of facial-skeletal dysplasia or abnormal mucopolysacchariduria. The results of histochemical and ultrastructural studies of conjunctiva, skin, and corneal epithelium confirmed the combined storage of acid mucopolysaccharide and complex lipid substances. An unusual histopathologic feature of mucolipidosis IV is the predisposition of extreme storage involvement of corneal epithelial cells with relative sparing of the keratocytes, which is a finding of potential therapeutic implication. In addition, application of electron microscopic study of cultured amniotic cells and conjunctival biopsy specimens to assess for the parents the mother's subsequent pregnancy additional emphasizes the value of ultrastructural studies in the diagnosis of lysosomal storage disease.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
5/13. Ocular abnormalities in mucolipidosis IV.Systemic findings in a 23-year-old white man with mucolipidosis type IV included early delayed psychomotor development, mental retardation, and mild facial dysplasia. There was urinary excretion of chondroitin sulfate. Ophthalmologic examination showed corneal haze, pigmentary retinopathy, and severe optic atrophy. light microscopy showed massively engorged superficial and intermediate epithelial cells of both the cornea and the conjunctiva. By transmission electron microscopy these contained fine granular material consistent with acid mucopolysaccharide and concentric lamellar bodies presumably representing phospholipids. This storage phenomenon was also found in macrophages, plasma cells, ciliary epithelial cells, schwann cells, retinal ganglion cells, and vascular endothelial cells. light microscopy also disclosed early cataract formation, marked outer retinal degeneration, and optic atrophy.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
6/13. 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 = 110.40492164182keywords = leukocytes (Clic here for more details about this article) |
7/13. 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 = 110.40492164182keywords = leukocytes (Clic here for more details about this article) |
8/13. 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 = 110.40492164182keywords = leukocytes (Clic here for more details about this article) |
9/13. Multiple sulphatase deficiency in homozygotic twins.Multiple sulphatase deficiency was studied in 3 siblings--one pair of monozygotic twins and their sister. The children's psychomotor development was arrested at the age of 18 to 24 months, and the hypotonic syndrome combined with signs of spasticity appeared. There was marked hepatosplenomegaly, conspicuously dry scaly skin with the decortication syndrome developing and persisting in the presence of pronounced cachexia. Also present were numerous X-ray abnormalities, metachromatically staining granules in the urine, and Alder- Reilly 's bodies in the blood leukocytes and in specimens of bone marrow. liver, skin and muscle biopsies performed simultaneously revealed accumulations of water-soluble mucopolysaccharides and deposits of sulphatides in the two twins. enzyme assays demonstrated arylsulphatase A and B deficiency. The diagnosis was subsequently confirmed at all the three siblings' postmortem examinations.- - - - - - - - - - ranking = 110.40492164182keywords = leukocytes (Clic here for more details about this article) |
10/13. adult mucolipidosis with beta-galactosidase and neuraminidase deficiencies.An adult case of mucolipidosis with beta-galactosidase and neuraminidase deficiencies is reported. The patient was a 35-year-old Japanese female with coarse face, lumbar vertebral beaking, action myoclonus, cerebellar ataxia, clouding of the cornea, macular cherry-red spots, hearing loss and vacuolated lymphocytes, but without mucopolysacchariduria. Her clinical symptoms developed at a late age with a slow progression. The enzyme activities of beta-galactosidase were deficient in leukocytes and cultured skin fibroblasts but normal in serum. Sialic acid-rich glycopeptides and oligosaccharides were increased in the urine. neuraminidase activities toward fetuin, alpha-N-acetylneuraminosyl-(2 leads to 3) lactose and alpha-N-acetylneuraminosyl-(2 leads to 6) lactose were deficient in cultured fibroblasts. It is suggested that the main disturbance in the present case might be the catabolic process of glycoproteins and oligosaccharides due to neuraminidase deficiency.- - - - - - - - - - ranking = 110.40492164182keywords = leukocytes (Clic here for more details about this article) |
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