ムコ多糖症は身体中に存在するムコ多糖が沈着する遺伝疾患であり，VII型は中でもまれな疾患である．過去の全身麻酔導入時に換気困難があったムコ多糖症VII型患児に対する全身麻酔を経験した．症例は7歳男児．2歳6カ月時に挿管直後に呼気性喘鳴と換気困難のため手術中止となった．今回の麻酔導入には拮抗可能な薬剤を用いて鎮静下で喉頭展開容易であることを確認することで安全に気道確保を行った．術中，術後ともに問題なく経過し退院した．一般的にムコ多糖症は麻酔管理上，気道確保が問題とされるが病型に依る．本症例では問題なく気道確保できたが，VII型はまれな疾患であり症例報告は少なく麻酔管理に関する経験の蓄積が必要である．

Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. This disease is a complex of four conditions caused by dysfunctions of one of genes coding for lysosomal enzymes involved in degradation of heparan sulfate: SGSH (coding for heparan N-...

UNLABELLED ᅟ: Mucopolysaccharidosis type III (MPS III; Sanfilippo syndrome) is a metabolic disorder characterized by the deficiency of a lysosomal enzyme catalyzing the catabolic pathway of heparan sulphate. MPS III presents with progressive mental deterioration, speech delay and behavioural problems with subtle somatic features, which can often lead to misdiagnosis with idiopathic developmenta...

PURPOSE To describe knee alignment in children of different ages with severe mucopolysaccharidosis (MPS) I and II and the outcome of treatment with guided growth in a patient subgroup. METHODS This is a retrospective observational study of 58 knees in 29 children with severe MPS I and II. Long-leg standing radiographs were evaluated to determine mechanical axis deviation, mechanical lateral d...

OBJECTIVE To study the etiology of neuroregression in children having deficiency of the lysosomal enzymes. DESIGN Review of medical records. SETTING Specialized Genetic Center. PARTICIPANTS 432 children aged 3 mo-18 y having regression in a learned skill, selected from 1453 patients referred for diagnostic workup of various Lysosomal storage disorders (LSDs). METHODS Plasma chitotriosid...

UNLABELLED Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate. MPS I patients have a wide range of clinical presentations, that makes it difficult to predict patient phenotype which is needed for genetic cou...

BACKGROUND Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease subdivided into three phenotypes of increasing severity: Scheie, Hurler-Scheie and Hurler. To gauge the effectiveness of treatments and to determine the load likely to fall on health-care systems, it is necessary to understand the prevalence and natural progression of the disease especially with regard to life-e...