1/7. 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 = 1keywords = physical (Clic here for more details about this article) |
2/7. 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 = 2keywords = physical (Clic here for more details about this article) |
3/7. Severe type Hunter's syndrome. Polysomnographic and neuropathological study.The clinico-pathological and polysomnographical findings of an adult male patient with severe type of Hunter's syndrome are presented. He died of respiratory failure aged 19, which was much older than the average in this disease. Mucopolysaccharidosis was suspected at the age of one year, and diagnosed by leucocyte enzyme assay at 4 years of age. Mental and physical activity gradually deteriorated until his death. He often showed central type sleep apnea during the sleep stage 2, in addition to common obstructive apnea in Hunter's syndrome. The autopsy showed marked fibrous thickening of the endocardium and valves, enlargement of the liver and spleen, dilatation of the lateral ventricles and diffuse atrophy of the brain. Histologically, diffuse cytoplasmic vacuolations were found in fibroblast-like cells in the thickened endocardium and vascular walls, in kupffer cells, and in many neurons of the central and peripheral nervous systems. Most neuronal inclusions were considered to be a ganglioside, and in other cells to be a mucopolysaccharide, by their ultrastructure. Massive accumulation of ganglioside in the neurons in the respiratory center might be reflected on central type sleep apnea.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/7. Hunter syndrome presenting as macrocephaly and hydrocephalus.A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/7. The effect of haematopoietic stem cell transplant on papules with 'pebbly' appearance in Hunter's syndrome.BACKGROUND: Hunter's syndrome is associated with several cutaneous findings. For instance, papules with 'pebbly' appearance are a specific marker for the disease. However, it remains uncertain whether they disappear after haematopoietic stem cell transplant (HSCT). OBJECTIVES: To investigate the papules with 'pebbly' appearance before and after HSCT in infants with Hunter's syndrome, and to clarify the effect of HSCT on papules. patients: We observed five Japanese boys with Hunter's syndrome who had received HSCT at 4-11 years of age. RESULTS: The post-HSCT physical examinations revealed that papules disappeared completely within 35 days after the transplant with progressive reduction of cutaneous tightness in all the patients. Histochemical findings showed that papules contained a large amount of hyaluronic acid in the extracellular materials of the dermis and sulphated acid mucopolysaccharides in dermal fibroblasts before HSCT. CONCLUSIONS: These results suggest that papules with a 'pebbly' appearance fade away through the digestion of a large amount of hyaluronic acid in cutaneous tissues by normal tissue histiocytes or enzymes of donor origin at an early stage after HSCT.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/7. Delayed awakening from general anaesthesia in a patient with Hunter syndrome.Hunter syndrome is one of a heterogeneous group of recessively inherited mucopolysaccharide storage diseases (MPS) with similar biochemical defects manifested by impairments in mucopolysaccharide catabolism with variable but progressive clinical courses. Abnormal accumulation and deposition of mucopolysaccharides in the tissue of several organs to numerous anatomical, musculoskeletal and neurological abnormalities which are known to complicate anaesthetic and airway management. Hunter syndrome has a wide variance of clinical phenotypes ranging from mild to severe. We present a patient having physical and neurological features consistent with a severe clinical presentation of Hunter syndrome (MPS, Type II). Following a seemingly uneventful intraoperative anaesthetic course including isoflurane, nitrous oxide and fentanyl (0.93 microgram.kg-1), resumption of spontaneous ventilation and return to consciousness were delayed until intravenous naloxone (200 micrograms) was administered 110 min after the opioid administration. The cause of delayed recovery from anaesthesia in this patient is unknown.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/7. Acute airway obstruction in Hunter syndrome.Hunter syndrome is one of the mucopolysaccharidoses, characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. Among its physical manifestations, there are numerous head and neck signs, including characteristic facial features, macroglossia and short neck. The accumulation of glycosaminoglycans in the soft tissues of the head and neck can be associated with acute airway obstruction. We report a 7 year old boy with Hunter syndrome who developed acute airway compromise requiring an emergency tracheotomy. A review of the literature of airway management in patients with this disease is also presented.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |