Morquio syndrome is a subtype of mucopolysaccharidoses, wherein the accumulation of glycosaminoglycans (GAGs) in various organ systems lead to alteration of anatomy and physiology. Most prominent features are extensive bony abnormalities, which normally require surgical correction. This paper reports the case of a 7-year-old child with Morquio syndrome who successfully underwent correction of genu valgum under general endotracheal anesthesia via asleep induction and videolaryngoscopy, with supplemental peripheral nerve block. The precautions and anesthetic care done to ensure a safe procedure are discussed, especially with anticipation of a possible difficult airway.
Mucopolysaccharidosis IV ; Mucopolysaccharidoses ; Anesthesia

Macular corneal dystrophy is a heredo-familial disease inherited as an autosomal recessive trait and characterized by corneal opacities due to localized mucopolysaccharidosis. One case of macular corneal dystrophy was reported by Cho et al in Korea in 1976, but it was a case without a family history. We report 3 cases of macular corneal dystrophy with a family history including more specific histopathologic findings and the review of available literatures.
Corneal Opacity ; Humans ; Korea ; Mucopolysaccharidoses

Mucopolysaccharidoses are a group of inherited disorders of metabolism resulting in the deposition of mucopolysaccharide in various tissues. This leads to organ dysfunction and anatomical abnormalities which can be important to the anesthetist. These abnormalities result in airway difficulty and difficult intubation. We successfully performed endotracheal intubation in a case of mucopolysaccharidoses in a 9-year-old female patient using fiberoptic laryngoscopy.
Child* ; Female ; Humans ; Intubation ; Intubation, Intratracheal* ; Laryngoscopy* ; Metabolism ; Mucopolysaccharidoses

Mucopolysaccharidosis (MPS) and mucolipidosis(ML) belong to a group of rare genetic disorders of lysosomal enzymes and share some clinical manifestations. MPS is characterized by the accumulation of glycosaminoglycans (GAG) and results from the impaired function of one of 11 enzymes required for normal GAG degradation. ML, which is clinically similar to several forms of MPS, is caused by deficiency of Nacetylglucosamine-1-phosphotransferase activity. Therapeutic strategies for MPS, including enzyme replacement therapy and bone marrow transplantation, have been developed with some success. In this review, we discuss clinical feature, diagnostic methods, management and the present status of research on MPS and ML.
Bone Marrow Transplantation ; Enzyme Replacement Therapy ; Glycosaminoglycans ; Mucolipidoses* ; Mucopolysaccharidoses*

PURPOSE: This study was done to explore the meaning of joys and sorrows in mothers of children with Mucopolysaccharidosis (MPS). METHODS: The participants were 9 mothers who each had a child with MPS. Data were gathered using in-depth interviews. The interviews were recorded and transcribed verbatim. Data were analyzed using Colaizzi method. RESULTS: The significant results from analyzing the interviews can be grouped into 12 concept descriptions, and 5 theme clusters. The essential theme clusters for the experience of the mothers were 'hopelessness about this rare disease', 'guilt because of the disease being hereditary', 'endless courses of treatment', 'wounds in the relationship', and 'relative composure of mind'. CONCLUSION: The finding of this study offer profound information on joys and sorrows experienced by mothers of children with MPS and provide basic data for developing nursing intervention strategies for the mothers of children with rare diseases.
Child ; Humans ; Mothers ; Mucopolysaccharidoses ; Rare Diseases ; Child Health

Consensus ; Humans ; Mucopolysaccharidoses/therapy* ; Mucopolysaccharidosis IV ; Mucopolysaccharidosis VI

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

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

Brain ; pathology ; Child ; Humans ; Magnetic Resonance Imaging ; Male ; Mucopolysaccharidoses ; diagnosis ; pathology ; Tomography, X-Ray Computed

Hunter syndrome is one of the mucopolysaccharidoses, characterized by abnormal accumulation and deposition of mucopolysaccharides in the tissues of several organs which are known to complicate anaesthetic and airway management. We experienced a case of pulmonary edema which developed during induction of general anesthesia of Hunter syndrome after several attempts of intubation and airway obstruction.
Airway Management ; Airway Obstruction ; Anesthesia, General ; Glycosaminoglycans ; Intubation ; Intubation, Intratracheal* ; Mucopolysaccharidoses ; Mucopolysaccharidosis II* ; Pulmonary Edema*