1/51. Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome).The genetic mucopolysaccharidosis syndromes (MPS) are autosomal recessive inborn errors of metabolism. heart valve involvement in MPS is not uncommon but only a few case reports of successful cardiac surgery are available. In particular, reports of combined aortic and mitral stenosis associated with MPS type I-S are very rare. Both type I and type VI MPS are associated with significant left sided valvar heart disease that requires surgical valve replacement because of irregular valve thickening, fibrosis, and calcification. A 35 year old man had severe mitral valve stenosis after successful surgical replacement of a stenotic aortic valve. Valvar heart disease was investigated by cardiac ultrasound and left heart catheterisation. Histomorphological characterisation of the affected mitral valve was performed. The case illustrates typically associated clinical features of cardiac and extracardiac abnormalities found in MPS type I-S.- - - - - - - - - - ranking = 1keywords = mucopolysaccharidosis (Clic here for more details about this article) |
2/51. Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S.dna screening for mutations in the alpha-L-iduronidase (IDUA) gene was performed in a Chinese mucopolysaccharidosis type IH/S patient. The patient had two different mutations: the maternal allele has L346R (t-g transversion in codon 346) and the paternal allele has 388-3c-g (c-g transversion at position -3 of the 3' splice site of intron 2). In transfected COS-7 cells, L346R showed no appreciable IDUA activity (0.4% of normal activity), although it did not cause an apparent reduction in IDUA mRNA or protein level. The 388-3c-g mutation profoundly affects normal splicing leading to a very unstable mRNA. Expression of the IDUA cDNA containing the mutated acceptor splice site showed trace amounts of enzyme activity (1.6% of normal activity). The results provide further support for the importance of cytosine at the -3 position in rna processing.- - - - - - - - - - ranking = 1keywords = mucopolysaccharidosis (Clic here for more details about this article) |
3/51. mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation.OBJECTIVE AND IMPORTANCE: We present a patient with mucopolysaccharidosis with spinal cord compression, and we review previously published cases. This is the first published case of a patient with mucopolysaccharidosis with spinal cord compression who has undergone bone marrow transplantation. CLINICAL PRESENTATION: A 2-year-old patient with Hurler syndrome underwent bone marrow transplantation. Although the bone marrow transplantation improved many of the systemic effects of Hurler syndrome, the patient presented at 8 years of age with a cervical myelopathy. magnetic resonance imaging revealed soft tissue compression of the upper cervical cord. The literature review demonstrates that spastic tetraparesis, secondary to cervical cord compression, is the most common presentation of this subgroup of patients. INTERVENTION: A suboccipital craniectomy and C1-C5 laminectomy and decompression with duraplasty were performed. Pathological examination of compressive soft tissue and lamina was consistent with mucopolysaccharidosis. Postoperatively, the patient showed substantial improvement in neurological function. CONCLUSION: mucopolysaccharidoses can induce a compressive "metabolic myelopathy." Decompressive procedures have shown significant improvement in neurological function in the majority of patients without spinal instability. bone marrow transplantation may allow more patients with mucopolysaccharidoses to survive long enough to require neurosurgical treatment in the future. The effect of bone marrow transplantation on the prevention of spinal cord compression is unclear.- - - - - - - - - - ranking = 0.6keywords = mucopolysaccharidosis (Clic here for more details about this article) |
4/51. Hurler's syndrome, West's syndrome, and vitamin d-dependent rickets.mucopolysaccharidosis i is a metabolic disease of autosomal recessive inheritance caused by deficient activity of alpha-L-iduronidase. The clinical phenotype presents a wide spectrum of signs in the first year of life. We report a child with clinical features and laboratory data consistent with mucopolysaccharidosis I who precociously developed hydrocephalus and flexion spasms with hypsarrythmia in the electroencephalographic registration characteristic of West's syndrome. His radiologic and biochemical data suggested vitamin d-dependent rickets. To our knowledge, this is the first report of a patient demonstrating an association among mucopolysaccharidosis 1, West's syndrome, and vitamin d-dependent rickets.- - - - - - - - - - ranking = 0.4keywords = mucopolysaccharidosis (Clic here for more details about this article) |
5/51. Idiopathic hyperammonemia following an unrelated cord blood transplant for mucopolysaccharidosis i.bone marrow transplantation (BMT) has been shown to reverse or stabilize some manifestations of mucopolysaccharidosis i (Hurler syndrome). Idiopathic hyperammonemia (IHA) is a rare complication of solid organ and BMT that is characterized by elevated serum ammonia, normal liver enzymes, and abrupt onset of neurologic deterioration. We present the case of a 14-month-old male patient with Hurler syndrome who developed fatal IHA (ammonia = 2297 micromol/L) 31 days after a cord blood transplant. A complete autopsy was performed, with examination of both frozen and formalin-fixed paraffin-embedded (FFPE) tissues using a variety of special stains and electron microscopy. hyperammonemia was documented by analysis of antemortem serum and postmortem cerebrospinal and vitreous fluid. Other causes of hyperammonemia, including reye syndrome, were excluded. Histologic changes included centrilobular microvesicular steatosis of the liver and storage product present in multiple organs. The highly water-soluble mucopolysaccharide (MPS) storage product was best identified by colloidal iron staining of FFPE and unfixed air-dried fresh frozen liver sections. alcian blue stains failed to convincingly demonstrate MPS in any of the liver sections. This is the first published report, to our knowledge, of IHA in a posttransplant patient younger than 18 years old or following transplantation for Hurler syndrome. Demonstration of the hepatic centrilobular microvesicular steatosis characteristic of IHA was complicated by the diffuse storage of MPS within the liver. MPS storage can be best detected in the liver using colloidal iron staining. Oil-red-O staining may be useful to document microvesicular steatosis in cases with a clinical history of hyperammonemia following solid organ or BMT. Determining if certain subsets of children are at increased risk for IHA requires further study.- - - - - - - - - - ranking = 1keywords = mucopolysaccharidosis (Clic here for more details about this article) |
6/51. Rituximab for immune hemolytic anemia following T- and B-Cell-depleted hematopoietic stem cell transplantation.The treatment of immune-mediated hemolytic anemia (IHA) complicating hematopoietic stem cell transplantation (HSCT) is often unsatisfactory. We report a case of IHA which occurred after T- and B-cell depleted unrelated donor HSCT carried out for mucopolysaccharidosis type I-H (Hurler syndrome) which was successfully treated with anti-CD20 monoclonal antibody copyright 2003 S. Karger AG, Basel- - - - - - - - - - ranking = 0.2keywords = mucopolysaccharidosis (Clic here for more details about this article) |
7/51. Cerebral MRI in two brothers with mucopolysaccharidosis type I and different clinical phenotypes.We describe a cerebral MRI study of two brothers with mucopolysaccharidosis type I. They are of similar physical appearance, but the younger is severely mentally retarded while the elder is of normal intelligence. MRI shows characteristic abnormalities in the CNS, but it is not yet possible to establish a correlation between them and the mental retardation.- - - - - - - - - - ranking = 1keywords = mucopolysaccharidosis (Clic here for more details about this article) |
8/51. Perforation of a congenital umbilical hernia in a patient with Hurler's syndrome.Congenital umbilical hernias in Hurler's syndrome (mucopolysaccharidosis i) are generally treated conservatively, because complications such as incarceration are, rare, and risks involved in surgical correction are high. This case report describes the surgical management of a ruptured umbilical hernia in a 3-year-old child with Hurler's syndrome. Emergency repair of the hernia was performed with primary closure of the fascia; hernia recurrence 6 months later was treated laparoscopically using a PTFE mesh graft with no evidence of re-recurrence. In selected cases of Hurler's syndrome (warning signs of rupture) elective surgical hernia repair may be indicated.- - - - - - - - - - ranking = 0.2keywords = mucopolysaccharidosis (Clic here for more details about this article) |
9/51. light and electron microscopy of the cornea in systemic mucopolysaccharidosis type I-S (Scheie's syndrome).A 37-year-old man with coarse facies, stiff joints, corneal clouding, and normal intelligence sought medical attention. The diagnosis of a systemic mucopolysaccharidosis (MPS) type I-S (Scheie's syndrome) was confirmed by the presence of lysosomal alpha-L-iduronidase deficiency and excessive urinary dermatan and heparan sulfate excretion. The corneal button after perforating keratoplasty of the right eye demonstrated mucopolysaccharides consisting of numerous vacuoles containing fibrillogranular and partly membranebound material in epithelial cells, histiocytes, keratocytes, and extracellular matrix. endothelial cells were distinctly free of storage material. The epithelial basement membrane showed frequent breaks, whereas Bowman's layer was only slightly attenuated. Irregular collagen fibrils and fibrous long-spacing collagen were noted near degenerating distended keratocytes. The Descemet's membrane was normal. The literature of six reported histopathological examinations of the cornea in Scheie's syndrome is reviewed. Detection of fibrous long-spacing collagen seems to be a typical abnormality of the cornea in MPS I-S.- - - - - - - - - - ranking = 1keywords = mucopolysaccharidosis (Clic here for more details about this article) |
10/51. Mucopolysaccharidosis with special reference to Scheie syndrome.Three patients with Scheie syndrome are reported on. They were suspected to be suffering from mucopolysaccharidosis because of clinical, histological and electron microscopic observations. The Scheie syndrome diagnosis was based on urinary GAG analysis. Chase experiments with cultured fibroblasts from one of the patients showed retarded degradation of 35SO4-labeled intracellular GAG. In addition, the pathogenesis of mucopolysaccharidoses in connection with cellular GAG metabolism is discussed.- - - - - - - - - - ranking = 0.2keywords = mucopolysaccharidosis (Clic here for more details about this article) |
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