Optic canal narrowing in Hunter syndrome (mucopolysaccharidosis II).
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منابع مشابه
Videolaryngoscope-Assisted Fibreoptic Tracheal Intubation in a Young Adolescent with Hunter Syndrome for Posterior Cervical Fusion
We here describe a videolaryngoscope assisted fibreoptic tracheal intubation in a 17-year-old patient with Hunter Syndrome (Mucopolysaccharidosis Type II) and known difficult intubation who required posterior cervical fusion surgery for cervical canal stenosis. The patient had a history of failed nasal and oral fibreoptic intubation. The use of a videolaryngoscope enabled continuous visualizati...
متن کاملFundus Autofluorescence and Enhanced Depth Imaging Spectral-Domain Optical Coherence Tomography in Hunter Syndrome-New Insights
Introduction: Hunter syndrome or mucopolysaccharidosis type II is a rare progressive multi-systemic disorder, caused by an abnormal storage of glycosaminoglycans (GAGs) in almost every cell type, including most ocular tissues [1,2]. Patients have a short life expectancy and ocular manifestations can be present early in the course of disease [1,2]. Purpose: To report the fundus autofluorescence ...
متن کاملBirth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)
There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter Outcome Survey (HOS). This analysis indicated that birth weight is not an early marker of MPS II and is not associated with disease severity. It re...
متن کاملClinical presentation and diagnosis of mucopolysaccharidosis type 2 (Hunter syndrome).
+Pg Resident, *Head of unit, **assistant Professor, Dept. of Medicine, grant Medical College and sir J.J. group of Hospitals, Mumbai. Received: 01.10.2011; Revised: 16.07.2012; Re-revised: 03.12.2012; accepted: 11.01.2013 Abstract Introduction : We present a very rare case of mucopolysaccharidosis type II (Hunter syndrome). which presented as short stature, coarse facies, mild mental retardatio...
متن کاملTandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).
BACKGROUND A treatment for mucopolysaccharidosis II (Hunter syndrome) has recently become available. Therefore, we developed a high-throughput assay method appropriate for newborn screening for the relevant enzyme, iduronate 2-sulfatase. METHODS We synthesized a new iduronate 2-sulfatase substrate that can be used to assay the enzyme by use of tandem mass spectrometry together with an interna...
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عنوان ژورنال:
- AJNR. American journal of neuroradiology
دوره 34 3 شماره
صفحات -
تاریخ انتشار 2013