1/12. MR brain imaging of fucosidosis type I.SUMMARY: fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation. fucosidosis type I rapidly evolves toward a progressive neurologic deterioration and death. We report MR imaging findings of the brain of three patients with fucosidosis type I, including previously unreported findings, to expand the knowledge of the neuroradiologic spectrum of the disease.- - - - - - - - - - ranking = 1keywords = lysosomal storage disease, lysosomal storage, storage disease, storage (Clic here for more details about this article) |
2/12. fucosidosis with hypothyroidism: a case report.fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a severe deficiency of alpha-l-fucosidase. Here we present a 27-month-old male who was referred to us for evaluation of developmental delay, which was first detected at age six months. His past medical history was also remarkable for recurrent pulmonary infections and myoclonic seiures. His family history revealed that he was the first living child from a consanguineous marriage. He had a younger sister who died at five months of age from pneumonia who had facial resemblance to the proband, developmental delay and a congenital heart defect. physical examination revealed length: 81 cm (25-50p), weight: 10.2 kg (25-50p), and head circumference: 49 cm (50-75p). He had a coarse face, hepatomegaly and generalized spasticity. His initial laboratory examination revealed negative urine screening column chromatography for mucopolysaccharidosis. His X-ray findings were consistent with mild form of dysostosis multiplex. Based on clinical and laboratory features, fucosidosis was suspected. Fucosidase enzyme activity was zero. In addition to fucosidosis, thyroid function tests indicated primary hypothyroidism. This is, to the best of our knowledge, the fourth case of fucosidosis diagnosed in turkey.- - - - - - - - - - ranking = 0.21650143069845keywords = lysosomal storage, storage, enzyme (Clic here for more details about this article) |
3/12. fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review.fucosidosis is a rare lysosomal storage disease due to alpha-l-fucosidase deficiency. It presents clinically with neurological, skeletal, and cutaneous findings, including mainly angiokeratoma corporis diffusum. Electronmicroscopic examination reveals characteristic electron-lucent cytoplasmic vacuolization present in several cell types of the skin and other tissues. We present here a new patient suffering from fucosidosis with angiokeratoma, whose normal and diseased skin was studied by lightmicroscopy and electronmicroscopy. The salient clinicopathological features of this disease are briefly reviewed.- - - - - - - - - - ranking = 1keywords = lysosomal storage disease, lysosomal storage, storage disease, storage (Clic here for more details about this article) |
4/12. Defective expression of alpha-l-fucosidase by lymphoid cells of a fucosidosis patient.fucosidosis is an inherited lysosomal storage disease due to a deficiency of alpha-l-fucosidase activity. Exponentially growing lymphoid cell cultures from a fucosidosis patient (JH) had 16-fold lower extracellular alpha-l-fucosidase protein and 72-fold lower intracellular alpha-l-fucosidase protein with negligible catalytic activity as compared with the mean of 19 control cultures. The percentage of total alpha-l-fucosidase protein released extracellularly by JH cells was 71% as compared with 35% /- 9% for control cells. During a 1.5 h pulse with 35S-methionine, alpha-l-fucosidase was synthesized by JH cells as an intracellular doublet with Mr of 58,000 and 56,000 and by control cells as an intracellular form with Mr = 58,000. During a subsequent 21 h chase with unlabeled methionine, JH alpha-l-fucosidase was entirely secreted. In contrast, only 25%-30% of control enzyme was secreted with the remainder retained intracellularly. Thus, JH lymphoid cells synthesized a reduced amount of alpha-l-fucosidase that was catalytically inefficient and was hypersecreted. Treatment of JH alpha-l-fucosidase with N-glycanase produced polypeptide chains with Mr of 52,000 and 54,000. Previously, treatment of control alpha-l-fucosidase with N-glycancase produced a single polypeptide chain with Mr of 52,000 (Biochem Genet 1988; 26: 401-20). The doublet polypeptide chains of alpha-l-fucosidase in JH cultures may represent expression of two distinct allelic forms of mutant alpha-l-fucosidase.- - - - - - - - - - ranking = 1.0000230844548keywords = lysosomal storage disease, lysosomal storage, storage disease, storage, enzyme (Clic here for more details about this article) |
5/12. Recurrent respiratory infections in a child with fucosidosis: is the mucus too thin for effective transport?fucosidosis is caused by a deficiency of the lysosomal enzyme alpha-l-fucosidase (ALF) leading to an accumulation of glycoproteins in a variety of cells. Infants and young children with this disorder are prone to recurrent sinus and pulmonary infections and often die of pneumonia. We studied the mucociliary and systemic immune function in a 6 year old girl with fucosidosis and recurrent respiratory infections. All measurements of systemic immune function were normal. Sweat chloride was normal when measured on angiokeratotic skin but was greater than 65 mg/L on uninvolved areas. During the placement of tympanic ventilation tubes, tracheal mucus was gently aspirated and a mucosal biopsy was taken. Tracheal mucus transport was not measured. The biopsy material was examined under phase contrast microscopy and revealed ciliated cells with apparently normal beating. TEM of these cells showed a characteristic pattern of vacuoles in the cytoplasm as described in other tissues from patients with fucosidosis. Ciliary ultrastructure was normal. mucus viscoelasticity was measured in a magnetic microrheometer. The loss tangent was 2 SD above the mean for normal mucus and mechanical impedance was about 2 SD below the mean. These changes are similar in direction but double in magnitude to what has been described with methacholine administration in dogs. The high compliance of the mucus may be due to incomplete assembly of mucus glycoprotein or to decreased secretion of glycoproteins in respiratory secretions. This leads to mucus that is abnormally watery and thus difficult to clear from the airway.- - - - - - - - - - ranking = 2.3084454763342E-5keywords = enzyme (Clic here for more details about this article) |
6/12. Diagnostic value of kidney biopsy in heterozygous Fabry's disease.We studied a case of abnormal renal pathologic findings in a female patient that were suggestive of Fabry's disease. Except for corneal clouding, no other clinical findings were consistent with this diagnosis. The serum and urinary enzyme levels were all within normal limits; the ceramide trihexoside level was slightly increased in the urine. We examined the pathologic changes in the context of the present knowledge of renal lesions in storage diseases.- - - - - - - - - - ranking = 0.0085202446272546keywords = storage disease, storage, enzyme (Clic here for more details about this article) |
7/12. Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease.fucosidosis is a rare lysosomal storage disorder with the clinical features of mental retardation, cardiomegaly, dysostosis multiplex, progressive neurologic deterioration, and early death. The neuroradiologic findings in two patients are reported, and include abnormalities within the globus pallidus (both patients) and periventricular white matter (one patient).- - - - - - - - - - ranking = 4.2164783462437keywords = lysosomal storage disease, lysosomal storage, storage disease, storage (Clic here for more details about this article) |
8/12. A 5' splice site mutation in fucosidosis.fucosidosis is a rare, autosomal recessive, lysosomal storage disease, resulting from a deficiency of the enzyme alpha-fucosidase (EC 3.2.1.51). It is characterised clinically by progressive mental and motor deterioration, growth retardation, coarse facies, and often recurrent infections, but the course of the disease is variable. The gene encoding lysosomal alpha-fucosidase has been mapped to the short arm of chromosome 1 at position 1p34.1-36.1 and has been called FUCA1. Two mutations causing disease have been described previously, a C-->T change in exon 8 giving rise to a premature, in frame TAA stop codon, and a deletion of at least two exons from the 3' end of the gene. In this paper we present evidence that a homozygous G-->A transition in the first position of the 5' splice site of intron 5 of FUCA1 is the disease causing mutation in a 9 year old child of distantly related parents. A new banding pattern was detected in the patient by Southern blotting of genomic dna using TaqI restriction and a cDNA FUCA1 probe. The patient was homozygous for this pattern. Three sibs with alpha-fucosidase activity below the normal reference range and both parents were heterozygous. This pattern was not detected in 26 other fucosidosis patients and has not been found in any controls. The mutation was localised by a combination of restriction mapping using different cDNA probes, single stranded conformational polymorphism analysis of exons and flanking regions amplified by the polymerase chain reaction, and by direct sequencing of the amplified sequence. A view of the nature of the mutation, its cosegregation with the disease mutation and its absence in controls, it is probable that the 5' splice site mutation causes fucosidosis in this child.- - - - - - - - - - ranking = 1.0000230844548keywords = lysosomal storage disease, lysosomal storage, storage disease, storage, enzyme (Clic here for more details about this article) |
9/12. histology and electron microscopy of fucosidosis of the skin. Subtle clues to diagnosis by electron microscopy.fucosidosis is an autosomal recessive inborn error of metabolism in which fucose-containing glycolipids, glycoproteins, and oligo- and polysaccharides accumulate in tissues as a consequence of alpha-l-fucosidase deficiency. Since the detection of this entity in 1966 several cases have been described, but until now investigations of clinically uninvolved skin have not been performed. In this study we have investigated clinically normal skin obtained from a patient with fucosidosis and his healthy sister, by light and electron microscopy, to determine whether normal skin in this condition yields clues that may have prognostic relevance. We found "empty"- appearing storage vesicles in melanocytes, endothelial cells, sweat glands, and fibroblasts in the skin.- - - - - - - - - - ranking = 0.0011383832365199keywords = storage (Clic here for more details about this article) |
10/12. fucosidosis with dystonia.fucosidosis, a progressive neurodegenerative disease, evident in early childhood, is associated with progressive loss of mental and motor function and increasing spasticity and hyperreflexia. We report a Canadian male, with clinical features similar to previously reported fucosidosis patients, however, since age 5 he has exhibited progressive dystonic posturing, initially unilateral, but recently involving both lower limbs. Extensive study of his cultured lymphoblasts demonstrated that alpha-fucosidase activity and immunoreactive alpha-fucosidase protein were absent. He is homozygous for the Q422X mutation, a C to T transition within exon 8 of the alpha-fucosidase gene which results in loss of an EcoR1 restriction enzyme cut site. Even among the 4 other reported fucosidosis families having one or more individuals homozygous for this same (Q422X) mutation there was no previous report of dystonia.- - - - - - - - - - ranking = 2.3084454763342E-5keywords = enzyme (Clic here for more details about this article) |
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