1/21. corneal transplantation in a patient with mucopolysaccharidosis type VII (Sly disease).PURPOSE: To illustrate a good visual outcome following penetrating keratoplasty in a patient with Sly disease, a rare mucopolysaccharidosis (MPS) caused by a deficiency of beta-glucuronidase. methods: A 15-year-old male with progressive bilateral corneal opacification had a complete medical, genetic, and ophthalmic evaluation followed by a penetrating keratoplasty. RESULTS: The cornea has remained clear for two years following surgery. Histopathology of the corneal button demonstrated vacuoles and granular inclusions consistent with this lysosomal storage disease. CONCLUSION: While research is ongoing in the fields of enzyme replacement and bone marrow transplantation, these treatments may not alleviate or reverse the corneal clouding. This case illustrates that cornea transplantation may be a valuable treatment option for visually rehabilitating such patients.- - - - - - - - - - ranking = 1keywords = lysosomal storage disease, lysosomal storage, storage disease, storage, enzyme (Clic here for more details about this article) |
2/21. airway management in mucopolysaccharide storage disorders.mucopolysaccharidoses (MPS), a group of disorders caused by a genetic disruption, create a special challenge for the otolaryngologist. With the rare types of MPS IV and MPS 1 S, a skilled practitioner is required to abate airway management complications. The erratic deposits of mucopolysaccharides throughout the trachea should be taken into account when decisions to stent the airway are made. Proper management requires to provide an airway that is custom-made to meet the patient's needs. This is a case-by-case presentation of 3 patients with MPS who presented to the Children's Hospital of michigan with progressive respiratory embarrassment. Discussed are the various issues revolving around our ability to provide proper airway management, from intubation to tracheostomy tube placement.- - - - - - - - - - ranking = 0.0061492555989077keywords = storage (Clic here for more details about this article) |
3/21. Coronary intimal sclerosis in Morquio's syndrome.mitral valve, coronary arteries, cartilage, and liver were studied by light and electron microscopy in a 15 year old boy with Morquio's syndrome, a genetic mucopolysaccharidosis, in which a deficiency of lysosomal hexosamine sulfatase is associated with accumulations of keratan sulfate in various organs. Coronary artery intimal sclerosis was a prominent feature of this disorder. Ultrastructural examination revealed numerous intimal smooth muscle cells containing storage vacuoles consistent with lysosomes. This was associated with marked interstitial deposition of collagen, elastin, and basement membrane material. Recent studies of human and experimental atherosclerosis have demonstrated the accumulation of cholesterol within vascular smooth muscle cell lysosomes. Intralysosomal accumulation of substrates other than cholesterol is also associated with vascular intimal sclerosis in genetic lysosomal disorders such as Fabry's disease and Hurler's syndrome. Lysosomal storage of undegraded substrate may be an important pathogenetic mechanism in the development of sclerotic vascular lesions.- - - - - - - - - - ranking = 0.0030746277994538keywords = storage (Clic here for more details about this article) |
4/21. Investigation of lysosomal storage diseases in nonimmune hydrops fetalis.OBJECTIVE: To investigate lysosomal storage diseases (LSD) in cases of nonimmune hydrops fetalis (NIHF). methods: Thirty-three cases of NIHF were investigated, 28 in the prenatal period and 5 in hydropic newborns. In addition to a general investigation for NIHF, specific enzymatic analyses for the detection of LSD were performed. RESULTS: In our sample, we detected five patients (15%) with LSD, each patient having one of the following diseases: mucolipidosis, Niemann-Pick disease, galactosialidosis, sialidosis and mucopolysaccharidosis type IV A. CONCLUSION: Although LSDs are rare disorders as a group, they should be considered as a possible cause of NIHF, even in the absence of consanguinity or of a previous family history. By excluding the more frequent causes of NIHF, an LSD investigation assists in clarifying the etiology of many hydropic cases, making more appropriate genetic counseling for parents possible.- - - - - - - - - - ranking = 4.9993412238049keywords = lysosomal storage disease, lysosomal storage, storage disease, storage (Clic here for more details about this article) |
5/21. Arthroscopic and histologic findings in Morquio's syndrome.Mucopolysaccharidosis type IV A/B (Morquio's syndrome) is one of a heterogeneous group of lysosomal storage diseases characterized by accumulation of keratan sulfate in cells of connective tissue. From early childhood, the major orthopaedic manifestations are shortening of the trunk, spondylepiphyseal dysplasia, odontoid hypoplasia, upper cervical instability, lower-limb alignment problems, and degenerative joint disease. Most of the rare published case reports describe those characteristic clinical deformities of the skeleton. Our literature search showed that these striking arthroscopic findings have not been made public to date. We report a typical case of mucopolysaccharidosis type IV. We show and, in particular, correlate the arthroscopic with the histologic findings. In particular, the comparison between arthroscopy and light microscopy showed a remarkable extensive delamination of the chondral layer from subchondral bone of both knee joints. These findings should encourage further research, especially of the osteochondral borderline.- - - - - - - - - - ranking = 0.99986824476098keywords = lysosomal storage disease, lysosomal storage, storage disease, storage (Clic here for more details about this article) |
6/21. Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.Mucopolysaccharidosis type IVA (MPS IVA; OMIM #253000) or Morquio A syndrome is an autosomal recessive inborn error resulting from the deficient activity of the lysosomal enzyme, N-acetylgalactosamine-6-sulfatase (GALNS), and the progressive lysosomal accumulation of sulfated glycosaminoglycans. Clinically, the severe form of this lysosomal storage disease is characterized by a characteristic severe bone dysplasia and normal intelligence. To date, a variety of mutations have been associated with the severe MPS IVA phenotype. Here, we report the GALNS mutations in six severe MPS IVA patients from four unrelated Tunisian families. For mutation detection, each of the 14 exons and adjacent intron-exon junctions of the GALNS gene were sequenced after PCR-amplification from genomic dna. Two novel mutations were identified: a G to A transition in the conserved 5' donor splice site of intron 1 (GACgt-->GACat: designated IVS1( 1g-->a)) and a G to C transversion in codon 66 of exon 2 predicting a glycine to arginine substitution (G66R). The IVS1( 1g-->a) mutation was homozygous in five similarly affected patients from three presumably unrelated families, but haplotype analysis suggested a common ancestor. The affected patient in the fourth family was homozygous for the G66R mutation. These are the first GALNS mutations causing severe MPS IVA disease identified in tunisia. These molecular findings provide genotype/phenotype correlations, and permit accurate carrier detection, prenatal diagnosis, and counseling for MPS IVA disease in tunisia where first cousin consanguineous mating remains frequent.- - - - - - - - - - ranking = 1.0585715824985keywords = lysosomal storage disease, lysosomal storage, lysosomal enzyme, storage disease, storage, enzyme (Clic here for more details about this article) |
7/21. Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis iv A).Morquio syndrome (mucopolysaccharidosis iv) is a hereditary lysosomal storage disease characterized by dwarfism, spondyloepiphyseal and dental abnormalities, corneal opacification, and normal intelligence. We report the light and electron microscopic features of two patients with mucopolysaccharidosis type IV A (MPS IV A). Variable degrees of mucopolysaccharide deposition were seen in tissue surveyed by light microscopy. Transmission electron microscopy demonstrated fibrillogranular and multimembranous membrane-bound inclusions distributed primarily in the cornea and trabecular meshwork, to a milder degree in the conjunctiva and sclera, and rarely in the retinal pigment epithelium. Our findings indicate that the accumulation of mucopolysaccharide in MPS IV A occurs primarily in the structures of the anterior segment.- - - - - - - - - - ranking = 0.99986824476098keywords = lysosomal storage disease, lysosomal storage, storage disease, storage (Clic here for more details about this article) |
8/21. Heterogeneity of Morquio disease.Further clinical heterogeneity of Morquio disease, mucopolysaccharidosis iv (MPS IV), is delineated by the observation of a 30-year-old man with unusually mild clinical manifestations. He is 156 cm tall, has comparatively mild skeletal abnormalities and fine corneal deposits. Keratosulfaturia is absent. N-acetylgalactosamine-6-sulfate (GalNAc-6-S) sulfatase (E.C. 3.1.6.-) was markedly reduced in his fibroblasts. The residual enzyme activity exhibited a pH profile comparable to that of patients with the "classical" form of the disorder. From our observation and a review of the literature it is concluded that Morquio disease can be divided in several subgroups: besides the severe ("classical") type A there exist an intermediate and a mild form that are also caused by a GalNAc-6-S sulfatase deficiency. A late-onset variant of Morquio disease, which is due to a deficiency of beta-galactosidase, has been classified as type B. In addition, patients with mild manifestation of the disease and normal activities in fibroblasts of GalNAc-6-S sulfatase and beta-galactosidase have been observed (type C). The genetic nature of the broad clinical variability of Morquio disease is incompletely understood: it is partially caused by different enzyme defects. Other factors thought to influence the clinical expression include the pH profile of the residual enzyme activity and an additional neuraminidase defect.- - - - - - - - - - ranking = 0.00039526571706029keywords = enzyme (Clic here for more details about this article) |
9/21. Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part I: Clinical and biochemical findings.Clinical heterogeneity in MPS IV A (mucopolysaccharidosis iv A, Morquio Disease Type A)has become more clearly identified in recent years. The clinical findings in 12 cases of MPS IV A are described. Clinical presentation was variable, and some cases were only mildly affected. All showed deficiency of N-acetylgalactosamine-6-sulphate sulphatase in fibroblasts, but the patient with the mildest clinical presentation showed a high residual enzyme activity. The urinary glycosaminoglycans (GAGs) were examined on all patients by a two-dimensional electrophoresis technique which proved to be highly reliable and efficient. In particular, no false negative results were obtained, a problem often encountered with routine screening methods. These cases support the division of MPS IV A into three subgroups: the severe "classical" type, an intermediate type and a mild type, all caused by N-acetylgalactosamine-6-sulphate sulphatase deficiency. Residual enzyme activity may be an important prognostic indicator.- - - - - - - - - - ranking = 0.00026351047804019keywords = enzyme (Clic here for more details about this article) |
10/21. Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part II: Dental findings.Typical dental changes were present in all cases, although they were of variable degree. However, the tooth morphology would appear to be highly specific for MPS IV A, and is not found in MPS IV B (beta-galactosidase deficiency) or the recently delineated MPS IV C (enzyme defect unknown). Thus the dental changes have a very useful diagnostic potential in mild atypical cases of MPS IV A, although they may only be demonstrable radiologically in some such cases.- - - - - - - - - - ranking = 0.0001317552390201keywords = enzyme (Clic here for more details about this article) |
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