1/53. Failure of the laryngeal mask to secure the airway in a patient with Hunter's syndrome (mucopolysaccharidosis type II).We present a case-study of a boy with Hunter's syndrome (mucopolysaccharidosis type II) and stridor in which a laryngeal mask airway (LMA) failed to secure airway control. A rigid bronchoscopy was performed and a polypoid formation discovered. We believe that the use of the LMA could explain the laryngeal obstruction in this child.- - - - - - - - - - ranking = 1keywords = mucopolysaccharidosis (Clic here for more details about this article) |
2/53. skin eruption as the presenting sign of Hunter syndrome IIB.We present a case of Hunter syndrome diagnosed because of skin eruption. A 4-year-old Japanese boy presented with a 3-4-months history of papular lesions on the back and extremities. His growth and development were almost normal. His face was not of coarse appearance. He had multiple, whitish to skin-coloured, papules and nodules symmetrically distributed on the scapular regions and the extensor aspects of the upper arms and thighs. There was no family history of similar symptoms. skin biopsy showed the deposition of a considerable amount of mucin in the dermis. Although physical examinations failed to detect any other signs of Hunter syndrome, x-rays showed the characteristic features of mucopolysaccharidosis: deformities of the vertebral bone, ribs, and pelvis. Mucopolysaccharide analysis of the urine revealed a marked increase in dermatan sulphate and heparan sulphate. The activity of iduronate sulphatase in the lymphocytes was deficient, which was diagnostic for Hunter syndrome. We emphasize that the skin eruption can be the earliest sign of Hunter syndrome, particularly in the mild form presenting with normal development and growth.- - - - - - - - - - ranking = 0.2keywords = mucopolysaccharidosis (Clic here for more details about this article) |
3/53. Long-term follow-up following bone marrow transplantation for Hunter disease.bone marrow transplantation (BMT) was performed in 10 patients with Hunter disease (mucopolysaccharidosis type II, iduronate-2-sulphatase deficiency). The donor was an HLA-identical sibling in 2 cases, an HLA-nonidentical relative in 6 cases, a volunteer unrelated donor in 1 case, and details were not available in 1 case. Only three patients have survived for more than 7 years post BMT; however, this high mortality probably resulted from poor donor selection. In two, there has been a steady progression of physical disability and mental handicap. One patient has maintained normal intellectual development, with only mild physical disability. It is possible that BMT may be useful in selected patients with MPS II.- - - - - - - - - - ranking = 0.2keywords = mucopolysaccharidosis (Clic here for more details about this article) |
4/53. Donor bone marrow from a sibling with inborn error of metabolism for treatment of acute leukaemia - clinical and biochemical consequences in the non-affected recipient.bone marrow transplantation (BMT) is increasingly used in an attempt to correct inborn errors of metabolism (IEM). However, little is known about effects of BMT from patients with IEM donating for non-affected recipients. We present data from a 8.5-year-old girl who underwent BMT in second remission for relapsed acute lymphoblastic leukaemia (ALL) at the age of 7 years from her HLA-identical brother who was severely affected by Hunter syndrome (Mucopolysaccharidosis type II, iduronate-2-sulphatase (IDS) deficiency). After BMT not only leukocyte but also plasma activity of IDS was absent. Mixing experiments and immunoadsorption suggest antibody-mediated enzyme inhibition. However, her urinary glycosaminoglycan excretion has not increased post BMT and clinical signs of mucopolysaccharidosis are absent 20 months after BMT. We conclude that patients with white cell enzyme deficiencies and other IEMs do not have to be excluded from bone marrow donation. Antibody production by the graft may occur and be reflected by a marked reduction in plasma enzyme levels but not tissue activity. Similar antibody responses resulting in enzyme inactivation might also affect other enzyme replacement strategies for individuals with IEM.- - - - - - - - - - ranking = 0.2keywords = mucopolysaccharidosis (Clic here for more details about this article) |
5/53. Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia.This report describes unrelated umbilical cord blood transplantation for a 10-month-old infant boy with mucopolysaccharidosis IIB (Hunter syndrome), an X-linked metabolic storage disorder due to deficiency of iduronate sulfatase. Two years after transplant approximately 55% normal plasma enzyme activity has been restored and abnormal urinary excretion of glycosaminoglycans has nearly completely resolved. The boy has exhibited normal growth and development after transplant. Nine months after transplant he developed severe autoimmune hemolytic anemia and required 14 months of corticosteroid treatment to prevent clinically significant anemia. bone marrow transplantation for Hunter syndrome and post-transplant hemolytic anemia are reviewed. bone marrow transplantation (2000).- - - - - - - - - - ranking = 1keywords = mucopolysaccharidosis (Clic here for more details about this article) |
6/53. Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome).Hunter syndrome is an X-linked metabolic storage disorder arising from deficiency of iduronate sulfatase enzyme activity. Despite the successful use of hematopoietic cell transplantation for a variety of lysosomal and peroxisomal storage diseases, limited benefit occurs following transplantation in either the severe or mild forms of Hunter syndrome. A brief ethical commentary is provided on the case of a boy with mucopolysaccharidosis IIB (ie the mild form) who received an unrelated umbilical cord blood transplant to improve his future quality of life. bone marrow transplantation (2000).- - - - - - - - - - ranking = 1keywords = mucopolysaccharidosis (Clic here for more details about this article) |
7/53. anesthesia of CO2 laser surgery in a patient with Hunter syndrome: case report.Hunter syndrome (mucopolysaccharidosis, type II; MPS II) is one of a heterogeneous group of recessively inherited mucopolysaccharide storage diseases. patients with mucopolysaccharidosis show progressive involvement and derangement of many organs, especially upper airway anomalies, which are the major cause of perioperative death. In recent years, a CO2 laser is often applied to upper airway lesions. A 16-year-old patient suffering from Hunter syndrome was scheduled for CO2 laser surgery because of sleep apnea and respiratory stridor. Otolaryngological examination revealed bulging of the bilateral false cord with stenosis of the glottis. We adopted sevoflurane mask induction and high-frequency jet ventilation to overcome the perioperative airway problems. The anesthetic course was uneventful, and the patient was discharged 2 days after the operation.- - - - - - - - - - ranking = 0.4keywords = mucopolysaccharidosis (Clic here for more details about this article) |
8/53. A pathological basis for the cutaneous papules of mucopolysaccharidosis ii (the Hunter syndrome).Cutaneous papules of two patients with the Hunter snydrome (mucopolysaccharidosis ii) were compared with their normal appearing skin by light and electron microscopic techniques. While most fibrocytes of normal and papular skin contained metachromatic cytoplasmic material and characteristic vacuoles, only the papules had extracellular accumulation of metachromatic material and evidence of coalescence and rupture of vacuoles. Alcohol fixation provides better preservation of the mucosubstances.- - - - - - - - - - ranking = 1keywords = mucopolysaccharidosis (Clic here for more details about this article) |
9/53. Tracheobronchial stent insertions in the management of major airway obstruction in a patient with Hunter syndrome (type-II mucopolysaccharidosis).We report a case of a 22-year-old male with Hunter syndrome who developed progressive major airway obstruction and was treated with insertion of plastic and metallic stents, with dramatic improvement in the patient's symptomatic and functional status. To the best of our knowledge, this is the first reported case of endoluminal stents being used in the management of major airway obstruction in a patient with Hunter syndrome.- - - - - - - - - - ranking = 0.8keywords = mucopolysaccharidosis (Clic here for more details about this article) |
10/53. Left ventricular aneurysm, aortic valve disease and coronary narrowing in a patient with Hunter's syndrome.Hunter's syndrome (mucopolysaccharidosis type 2, MPS 2) is an inherited disorder of glycosaminoglycan degradation commonly associated with cardiac disease. We present the case of a young man with unusual cardiac manifestations of this syndrome. When mixed aortic valve disease was noted in childhood, other classical features of the milder form of Hunter's syndrome were present. There was no symptomatic or echocardiographic cardiovascular deterioration until age 27 when the patient presented in severe biventricular failure. Investigations demonstrated cardiomegaly and a large apical left ventricular aneurysm. The patient died suddenly soon after this diagnosis. Post mortem examination demonstrated a hypertrophied left ventricle with a 6-cm apical aneurysm. Coronary arterial walls were diffusely thickened but with only mild lumenal stenosis. Mitral and aortic valve disease was also present. There is one previous report of ventricular aneurysm in Hunter's syndrome. Pathophysiological contributions to aneurysm formation may include abnormal coronary flow, the presence of aortic stenosis and abnormal myocardium. This patient's sudden deterioration after a long period of clinical stability reinforces the need for careful follow-up of patients with cardiac manifestations of Hunter's disease.- - - - - - - - - - ranking = 0.2keywords = mucopolysaccharidosis (Clic here for more details about this article) |
| | Next -> |