Cases reported "mucopolysaccharidosis ii"

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1/109. 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. ( info)

2/109. 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. ( info)

3/109. 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. ( info)

4/109. Children with mucopolysaccharidoses--three cases report.

    The mucopolysaccharidoses (MPS) are a group of inherited disorders of metabolism, with widespread, progressive involvement and derangement of many organs and tissues. Because of their disabling nature, frequent surgical intervention for the abnormality entailed is common, and is associated with a high degree of anesthetic risks perioperatively. One of the major hazards which we find clinically is airway difficulty. Multiple factors are present in the mucopolysaccharidoses to make airway management and trachael intubation potentially hazardous. Aside from generalized infiltration and thickening of the soft tissues, the oropharynx may be obstructed by a large tongue with tonsillar hypertrophy. Also, the friable mucosa covering the nasal and oral pharynx renders these structures easily to bleed and edematous. The neck is typically short and immobile, and the cervical spine and tempromandibular joint may have a limited range of movement. From our experience, we have learned not to overlook the propensity of airway difficulty. The uniqueness of their anatomy and extremely sensitive airway often result in failed intubation and bronchospasm even after successful intubation. Recently, in Mackay Memorial Hospital we have encountered in series three pediatric cases with mucopolysaccharidoses (one Hurler and two Hunter syndromes). In this report we would like to share our experiences and to discuss the anesthetic risks and management of the MPS patients. ( info)

5/109. Hunter's syndrome and associated sleep apnoea cured by CPAP and surgery.

    A 42-yr-old male with Hunter's syndrome presented with severe obstructive sleep apnoea syndrome (OSAS) and daytime respiratory failure. continuous positive airway pressure (CPAP) therapy was initially ineffective and produced acute respiratory distress. Extensive Hunter's disease infiltration of the upper airway with a myxoma was confirmed. Following surgery to remove the myxoma at the level of the vocal cords, CPAP therapy was highly effective and well tolerated. This report demonstrates the necessity of evaluating fully the upper airway in patients with unusual variants of OSAS, particularly where the disease is not adequately controlled by CPAP. ( info)

6/109. Bladder obstruction in Hunter's syndrome.

    We report a case of bladder obstruction in a patient with Hunter's syndrome, presenting with acute painful symptomatology, due to the impossibility of voiding, which was diagnosed with ultrasonography and cystometrography. Intermittent catheterization with intravesical oxybutynin chloride lead to successful functional resolution of the obstruction. ( info)

7/109. bone marrow transplantation in a Hunter patient with P266H mutation.

    Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a lysosomal disease caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS, EC Affected patients show a wide spectrum of clinical phenotypes, from severe to mild. Mutational analysis on this disease resulted in the identification of more than 200 alterations. bone marrow transplantation (BMT) is considered, at present, an appropriate therapy for MPS II subjects without severe neuropsychological impairment, however molecular analysis in BMT treated patients has been poorly studied. We describe here a patient subjected to BMT in 1995 whose IDS gene alteration, mutation P266H, was identified thereafter. The 4-year follow-up included clinical, biochemical and molecular parameters. dna analysis showed, after BMT, coexisting host mutant and donor normal alleles, ensuring the effectiveness of the therapy and providing a fast and accurate tool to monitor the colonization of donor cells after treatment. ( info)

8/109. enzyme replacement therapy by fibroblast transplantation: long-term biochemical study in three cases of Hunter's syndrome.

    We have assessed the effectiveness of transplanted histocompatible fibroblasts as a long-lived source of lysosomal enzymes for replacement therapy in three patients with Hunter's syndrome, over periods ranging from 2.5 to 3.75 yr. The level of Hunter corrective factor excreted by all three patients increased after transplantation, as did the activity of alpha-L-idurono-2-sulfate sulfatase in serum, when measured directly with a radioactive disulfated disaccharide substrate. Sulfatase activity was also raised in leukocyte homogenates from the two patients that we were able to assess. These increases in enzyme activity were accompanied by corresponding increases in catabolism of heparan and dermatan sulfates, as shown by (a) a decrease in sulfate:uronic ratios of urinary oligosaccharides, (b) an increase in iduronic acid monosaccharide, and (c) a normalization of Bio-Gel P-2 gel filtration profiles. Both the increase in enzyme activity and increased catabolism were maintained during the period of study and were not affected by either a gradual decrease or total withdrawal of immunosuppressive therapy. ( info)

9/109. Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions.

    We describe a novel type of complex genetic rearrangement in the iduronate-2-sulfatase (IDS) gene of a severely affected MPSII patient. Southern blot analysis indicated an intragenic deletion of exons 5 and 6. The deletion spans 5,581 bp. Sequencing of the deletion junctions revealed a complex rearrangement involving duplications and inversions. A remaining 20 bp fragment (c) from the intron 6 sequence and two duplicated IDS gene fragments of 314 bp (a) from intron 6/exon 7 boundary and 23 bp (b) from exon 7 were found between the deletion breakpoints. Fragments a and c were placed in an inverted orientation. We suggest that the described rearrangement is a result of a nonhomologous recombination event at sites with little homology. The proposed model explaining this recombinational event involves the formation of "tetra-loop" single-stranded dna structure during replication. The complexity of the described rearrangement and the lack of large homologous sequences at the mutational breakpoints suggest that complex molecular intermediates are formed during illegitimate recombination. ( info)

10/109. Progressive bone resorption after pathological fracture of the femoral neck in Hunter's syndrome.

    We report a case of Hunter's syndrome associated with a transverse fracture of the left femoral neck after minor trauma, followed by progressive resorption of the femoral head at 12 years of age and a stress fracture of the right femoral neck at 16 years of age. MRI performed at 15 years of age revealed intra-articular low intensity on T1-weighted and T2-weighted images of both hip joints. The MR finding may represent fibrous synovial thickening, which caused pressure erosion of the femoral neck, resultant pathological and/or stress fractures, and subsequent osteonecrosis with rapid absorption of the femoral head. ( info)
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