1/34. Cervical myelopathy in mucopolysaccharidosis type IV.We describe our experience with 8 Italian patients having mucopolysaccharidosis type IV, diagnosed between 1 and 10 years of life, who presented odontoid hypoplasia causing cervical myelopathy. We discuss the possibility of cranio-cervical stabilization in order to reduce the neurological complications.- - - - - - - - - - ranking = 1keywords = mucopolysaccharidosis (Clic here for more details about this article) |
2/34. Ocular changes in mucopolysaccharidosis iv A (Morquio A syndrome) and long-term results of perforating keratoplasty.BACKGROUND: The mucopolysaccharidoses (MPS) are an inhomogeneous group of disorders of errors in the carbohydrate metabolism with severe ocular involvement (corneal opacification, retinal degeneration, optic atrophy). PATIENT PRESENTATION: We report on a boy aged 12 years, with Morquio A (MPS IV A) syndrome. Ocular findings: progressive pseudoexophthalmus due to shallow orbits, increasing corneal stromal clouding, intermittent dissociated manifest nystagmus of the left eye, nyctalopia. visual acuity OD cc = 0.16, OS cc = 0.05. electrophysiology: changes suggesting a symptomatic tapetoretinal degeneration and optic atrophy. TREATMENT AND COURSE OF DISEASE: OS: perforating keratoplasty. Postoperative improvement of visual acuity to 0.25 for nearly a year, followed by progressive reopacification of the corneal graft. Both eyes: progressive signs of tapetoretinal degeneration and optic atrophy. visual acuity now reduced to OD 0.05, OS 0.1. CONCLUSIONS: Success of a keratoplasty is limited by (1) reopacification of the cornea, (2) visual impairment due to (a) retinal degeneration and (b) optic atrophy. The indication for perforating keratoplasty has to be thought about very carefully in these multimorbid patients. In our patient, beside progressive visual impairment there is a progressive deafness which dominates his social and school life. Attending school is severely complicated by the double handicap. Perforating keratoplasty enabled the boy to attend a school for physically handicapped without a special low-vision care for another year. Progressive visual loss without further treatment options now renders optical and electronic low-vision aids necessary. Although the time of improved visual acuity lasted less than a year, we think patients with a life expectancy of less than 20 years should have every possible improvement of their situation - even if it does not last permanently. We therefore propose perforating keratoplasty in spite of insufficient long-term results.- - - - - - - - - - ranking = 0.8keywords = mucopolysaccharidosis (Clic here for more details about this article) |
3/34. Anaesthetic management of patients with mucopolysaccharidosis iv presenting for major orthopaedic surgery.mucopolysaccharidosis iv, also known as Morquio-Brailsford syndrome, is an inherited autosomal recessive disorder of mucopolysaccharide metabolism leading to accumulation of keratan sulphate in the connective tissue of multiple organ systems. Based on a case report, the anaesthetic implications for the treatment of patients with MPS IV presenting for major orthopaedic surgery are discussed.- - - - - - - - - - ranking = 0.8keywords = mucopolysaccharidosis (Clic here for more details about this article) |
4/34. 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 = mucopolysaccharidosis (Clic here for more details about this article) |
5/34. Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.An inherited deficiency in beta-galactosidase can result in GM1 gangliosidosis, with several phenotypes of generalized or chronic psychomotor deterioration, as well as in Morquio disease type B, a characteristic mucopolysaccharidosis free of neurological symptoms. We performed mutation analyses in 17 juvenile and adult patients from various European regions with a deficiency in beta-galactosidase and skeletal abnormalities. Fifteen of these had the Morquio B phenotype and have remained neurologically healthy until now while the two others exhibited psychomotor retardation of juvenile onset. A two-base substitution (851-852TG-->CT; W273L) was present in 14 of the 15 Morquio B cases. Even if one excludes alleles from patients with possible common descent, there was a much higher frequency (79%) among those with Morquio B phenotype for the W273L mutation than previously reported in the literature (37%). That the Morquio phenotype is also expressed in heterozygotes for W273L and alleles typically found in GM1 gangliosidosis makes it possible to predict the phenotype and reliably detect heterozygotes. A single French patient had a novel missense point mutation (Q408P) together with a known mutation (T500A) while the mentally retarded patients were both heterozygous for two mutations known in chronic GM1 gangliosidosis together with two novel missense point mutations (Y270D and H281Y) in the vicinity of W273L. Our results confirm the high impact of Trp 273 for the function of beta-galactosidase and the expression of the Morquio B phenotype. In addition, a second domain around the amino acids 400-500 may also be of significance.- - - - - - - - - - ranking = 0.2keywords = mucopolysaccharidosis (Clic here for more details about this article) |
6/34. Fetal presentation of Morquio disease type A.A fetus with mucopolysaccharidosis type IV A (Morquio type A) is described. The family had one affected child exhibiting symptoms of classical Morquio A disease, and late in the subsequent pregnancy prenatal diagnosis was requested. At 23 weeks' gestation, moderate ascites was detected by detailed ultrasound scan and keratan sulphate was found in the amniotic fluid. The pregnancy was terminated by prostaglandin induction and the diagnosis of mucopolysaccharidosis type IV A was confirmed by demonstration of a deficiency of N-acetylgalactosamine-6-sulphate (GalNac-6-S) sulphatase in cultured amniotic cells and in post-mortem fibroblast cultures. The activities of beta-galactosidase and arylsulphatase A were normal, ruling out Morquio disease type B and multiple sulphatase deficiency. These results indicate that mucopolysaccharidosis iv A (a disease that predominantly affects the skeletal system) may produce ascites in the fetus to such an extent that it can be detected by ultrasound.- - - - - - - - - - ranking = 0.6keywords = mucopolysaccharidosis (Clic here for more details about this article) |
7/34. Chondro-osteodystrophy (Morquio Brailsford disease, mucopolysaccharidosis type IV A).We report three cases of Morquio Brailsford Disease (Mucopolysaccharidosis Type IV A) in an Irish family. We are unaware of any previous similar report from this Country.- - - - - - - - - - ranking = 0.8keywords = mucopolysaccharidosis (Clic here for more details about this article) |
8/34. 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 = 0.2keywords = mucopolysaccharidosis (Clic here for more details about this article) |
9/34. 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 = 0.2keywords = mucopolysaccharidosis (Clic here for more details about this article) |
10/34. 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 = 0.2keywords = mucopolysaccharidosis (Clic here for more details about this article) |
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