No abstract available.
Mucopolysaccharidosis II*

No abstract available.
Mucopolysaccharidosis II*

No abstract available.
Mongolian Spot* ; Mucopolysaccharidosis II*

Consensus ; Humans ; Mucopolysaccharidosis II/therapy*

No abstract available.
Mucopolysaccharidosis II* ; Retinaldehyde* ; Tomography, Optical Coherence*

Bow hunter's syndrome (BHS) is rare cause of vertebrobasilar insufficiency that arises from mechanical compression of the vertebral artery by head rotation. There is no standardized diagnostic regimen or treatment of BHS. Recently, we experienced 2 cases resisted continues medication and treated by surgical approach. In both cases, there were no complications after surgery and there were improvements in clinical symptoms. Thus, we describe our cases with surgical decompression with a review of the relevant medical literature.
Decompression ; Decompression, Surgical ; Head ; Mucopolysaccharidosis II* ; Vertebral Artery* ; Vertebrobasilar Insufficiency

Child, Preschool ; Humans ; Male ; Mucopolysaccharidosis II ; diagnosis ; genetics ; therapy ; Siblings

PURPOSE: The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is important because recombinant enzyme replacement therapy is now available for MPS. We studied the clinical characteristics of 80 MPS children with the object of determining the epidemiological, clinical and radiological features in Korean MPS children. METHODS: Diagnosis of MPS was confirmed by skin fibroblast enzyme analysis in 80 patients between February 1995 and December 2004. Charts were retrospectively reviewed for clinical and radiological findings, as well as for intelligence and speech evaluations. RESULTS: Hunter syndrome (MPS type II) was the most prevalent type, appearing in 51/80 cases (64 %), followed by Sanfilippo syndrome (MPS III-18%), Hurler syndrome (MPS I-15%), and Morquio syndrome (MPS IV-4%). The average age at diagnosis was 5.5 years (range 1 to 20), and the male-to-female ratio was 4.7: 1. Typical radiographic changes were observed in 45/54 cases (83%). Mitral regurgitation was the most common cardiac defect. Moderate to profound mental retardation and hearing loss were present in 14/35 cases (56%) and 33/38 cases (82%), respectively. Four MPS II patients had bone marrow transplantation, with mixed outcomes. Five MPS I patients are currently on enzyme replacement therapy. CONCLUSION: Our study showed a high proportion of MPS II cases (64%), which may represent population variability. By studying the clinical features of these patients, we hope to alert pediatricians of the warning signs of MPS.
Bone Marrow Transplantation ; Child ; Diagnosis ; Enzyme Replacement Therapy ; Fibroblasts ; Glycosaminoglycans ; Hearing Loss ; Hope ; Humans ; Incidence ; Intellectual Disability ; Intelligence ; Korea ; Mitral Valve Insufficiency ; Mucopolysaccharidoses* ; Mucopolysaccharidosis I ; Mucopolysaccharidosis II ; Mucopolysaccharidosis III ; Mucopolysaccharidosis IV ; Retrospective Studies ; Skin

Cervicogenic vertigo was known as Bow hunter's syndrome. Occlusion of vertebral artery causes vertebrobasilar insufficiency and we reported cervicogenic vertigo case which was treated by simple decompression of transverse foramen of C1. The patient was 48 years old female who had left side dominant vertebral artery and vertigo was provoked when she rotated her head to right side. Angiography showed complete obliteration of blood flow of left vertebral artery when her head was rotated to right side. The operation was decompression of left vertebral artery at C1 level. Posterior wall of transverse foramen was resected and vertebral artery was exposed and decompressed. After surgery, vertigo of the patient was disappeared, and angiography showed patent left vertebral artery when her head was rotated to right side. Vertigo caused by compression of cervical vertebral artery could be treated by decompression without fusion or instrumentation, especially in C1 transverse foramen.
Angiography ; Decompression* ; Female ; Head ; Humans ; Mucopolysaccharidosis II ; Vertebral Artery ; Vertebrobasilar Insufficiency ; Vertigo*

PURPOSE: Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe. IDS activity, which is measured in leukocyte pellets or fibroblasts, was reported to be related to clinical phenotype by Sukegawa-Hayasaka et al. Measurement of residual plasma IDS activity using a fluorometric assay is simpler than conventional measurements using skin fibroblasts or peripheral blood mononuclear cells. This is the first study to describe the relationship between plasma IDS activity and clinical phenotype of MPS II. METHODS: We hypothesized that residual plasma IDS activity is related to clinical phenotype. We classified 43 Hunter syndrome patients as having attenuated or severe disease types based on clinical characteristics, especially intellectual and cognitive status. There were 27 patients with the severe type and 16 with the attenuated type. Plasma IDS activity was measured by a fluorometric enzyme assay using 4-methylumbelliferyl-alpha-iduronate 2-sulphate. RESULTS: Plasma IDS activity in patients with the severe type was significantly lower than that in patients with the attenuated type (P=0.006). The optimal cut-off value of plasma IDS activity for distinguishing the severe type from the attenuated type was 0.63 nmol.4 hr-1.mL-1. This value had 88.2% sensitivity, 65.4% specificity, and an area under receiver-operator characteristics (ROC) curve of 0.768 (ROC curve analysis; P=0.003). CONCLUSION: These results show that the mild phenotype may be related to residual lysosomal enzyme activity.
Enzyme Assays ; Fibroblasts ; Humans ; Iduronate Sulfatase ; Leukocytes ; Mucopolysaccharidoses ; Mucopolysaccharidosis II ; Phenotype ; Plasma ; Sensitivity and Specificity ; Skin