1/4. endocardial fibroelastosis in mucopolysaccharidosis type VI.This case report describes two siblings less than 1 year of age who presented severely ill with a dilated cardiomyopathy. Full blood examination in both cases revealed marked granularity of neutrophils suggestive of mucopolysaccharidosis type VI. There were no physical features of a mucopolysaccharidosis but biochemical evaluation confirmed mucopolysaccharidosis type VI in both children. autopsy in one patient confirmed endocardial fibroelastosis and electron microscopy of fibroblasts in the myocardium showed distention with membrane-bound vacuoles, consistent with a mucopolysaccharidosis. These siblings developed endocardial fibroelastosis before other clinical manifestations of the mucopolysaccharidosis. Assessment for metabolic causes of a cardiomyopathy is important, as cardiac disease may be the initial manifestation of a metabolic disease.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/4. Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver.An adult patient with macular cherry-red spots, a gargoyle-like physical appearance, cerebellar ataxia, myoclonus, convulsive seizures, and pyramidal tract signs showed a profound deficiency of beta-galactosidase in liver and brain. Thrombocytopathy of undetermined etiology was evident since childhood, and the patient died of intracranial bleeding at age 22. Cerebral ganglioside pattern was normal. Hepatic mucopolysaccharides were not increased. GM1-gangliosidosis and mucopolysaccharidosis were ruled out by those analytical data. However, a large amount of amylopectin-like polysaccharide was found to be accumulated in liver. Hepatocyte contained numerous inclusion bodies with granulofibrillary structure similar to Lafora bodies, corpora amylacea, and inclusion bodies in glycogenosis type IV. This case seems to represent a new inborn metabolic disease closely related to GM1-gangliosidosis and mucopolysaccharidosis. The primary metabolic defect is not known at present.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/4. Variant of iduronidase deficient mucopolysaccharidoses: further evidence for genetic heterogeneity.An alpha-L-iduronidase deficiency syndrome has been described in adult male twins, which was phenotypically distinct from that of the Hurler and Scheie syndromes or the chondroitinsulphaturias. Multiple dysostosis and stiff joints were present without cloudy corneae, cardiac involvement and mental or physical retardation. This clinical phenotype appeared to be a newly recognized allelic mutation at the iduronidase locus but does not exclude a non-allelic mutation coding for a subunit of the iduronidase molecule.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/4. Compressive myelopathy associated with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).spinal cord compression with resultant myelopathy is a frequent occurrence in patients with mucopolysaccharidoses. Etiological factors include developmental abnormalities of the cervical spine and infiltration of the dura mater by the accumulated products of mucopolyssacharide metabolism. Compression at the thoracolumbar junction is rare, but was found in a child with the characteristic physical and biochemical stigmata of the Maroteaux-Lamy syndrome (mucopolysaccharidosis vi). An anterolateral approach to remove the compressing bony elements resulted in symptomatic improvement. Careful radiological evaluation is required so that all surgical options can be considered. patients with metabolic storage diseases and the capacity for normal intellectual function warrant aggressive surgical care to optimize neurological function.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |