1/23. 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 = 1keywords = disorder (Clic here for more details about this article) |
2/23. 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 = 1keywords = disorder (Clic here for more details about this article) |
3/23. Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia.Variable expression and penetrance of dominantly inherited disorders present problems in diagnosis and counseling. The variation in clinical findings within a family with an autosomal dominant skeletal dysplasia is presented. In some members only shortened metacarpals were found, as seen in classic brachydactyly E. Others presented with more severe and generalized skeletal involvement, such as is found in some of the spondyloepiphyseal dysplasias. This family may represent the true spectrum of brachydactyly E; they may be affected with a specific spondyloepiphyseal dysplasia; or they may represent a new syndrome. The authors favor the first possibility and feel that this family serves to emphasize the importance of examining all affected members in a kindred with an autosomal dominant disease.- - - - - - - - - - ranking = 1keywords = disorder (Clic here for more details about this article) |
4/23. Spondylometaepiphyseal dysplasia in a mother and her child.Variant types of spondylometaepiphyseal dysplasia in a mother and her child is reported. Several stages of the disorder are presented, demonstrating the principal difficulties in distinguishing variant types of skeletal dysplasia.- - - - - - - - - - ranking = 1keywords = disorder (Clic here for more details about this article) |
5/23. Dental findings in Morquio syndrome (mucopolysaccharidoses type IVa).Morquio syndrome is a disorder of mucopolysaccharide metabolism with specific skeletal features. The clinical and radiographic appearance of the teeth resembles hypoplastic amelogenesis imperfecta with thin enamel of normal radiodensity. The dental practitioner has a part to play in collaboration with medical colleagues in the recognition and diagnosis of this condition.- - - - - - - - - - ranking = 1keywords = disorder (Clic here for more details about this article) |
6/23. Morquio's syndrome and its anaesthetic considerations.Morquio's syndrome is an inherited disorder characterized by excessive excretion of keratan sulphate in the urine. The anaesthetic care of these patients should take into consideration respiratory, craniofacial, cardiac, skeletal, ocular and hepatic abnormalities. We report the case of a child with Morquio's syndrome who presented for stabilization of the cervical spine, and discuss the issues relevant to the anaesthesiologist.- - - - - - - - - - ranking = 1keywords = disorder (Clic here for more details about this article) |
7/23. Upper airways abnormalities and tracheal problems in Morquio's disease.Morquio's disease is a metabolic disorder that can cause various respiratory abnormalities. patients who live into adulthood are likely to develop upper airway problems and respiratory failure. With advances in home ventilation, these patients are increasingly likely to be referred to specialist respiratory units. We describe our experiences with two such patients.- - - - - - - - - - ranking = 1keywords = disorder (Clic here for more details about this article) |
8/23. 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 = 5keywords = disorder (Clic here for more details about this article) |
9/23. 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 = 2keywords = disorder (Clic here for more details about this article) |
10/23. 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 = 1keywords = disorder (Clic here for more details about this article) |
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