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Multidisciplinary Management of Hunter Syndrome

Pediatrics, 2009
Hunter syndrome is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. In the absence of sufficient enzyme activity, glycosaminoglycans accumulate in the lysosomes of many tissues and organs and contribute to the multisystem, progressive pathologies seen in Hunter syndrome.
MUENZER J, BECK M, ENG CM, ESCOLAR ML, GIUGLIANI R, GUFFON NH, HARMATZ P, KAMIN W, KAMPMANN C, KOSEOGLU ST, LINK B, MARTIN RA, MOLTER DW, ROJAS MVM, OGILVIE JW, PARINI R, RAMASWAMI U, SCARPA, MAURIZIO, SCHWARTZ IV, WOOD RE, WRAITH E.   +20 more
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Hunter Syndrome

JAMA Dermatology, 2022
This case report describes multiple symmetric, skin-colored papulonodules overlying the scapulae and posterior shoulders that gave the appearance of pebbled skin.
Piyush, Kumar, Pratap C, Das, Anupam, Das   +2 more
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Bow Hunter's Syndrome

World Neurosurgery, 2021
Bow hunter's syndrome is due to vertebrobasilar insufficiency caused by rotational compression of the vertebral artery. We report a case in which an osteophyte compressed the left vertebral artery causing cerebellar stroke. The patient underwent successful resection of the osteophyte via anterior surgical approach, and his symptoms of headache and ...
Brendan F, Judy, Nicholas, Theodore
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Development of a Mnemonic Screening Tool for Identifying Subjects With Hunter Syndrome [PDF]

European Journal of Pediatrics, 2013
UNLABELLED: The Hunter Outcome Survey (HOS), an international, long-term observational registry of patients with Hunter syndrome, was used to develop a simple mnemonic screening tool (HUNTER) to aid in the diagnosis of Hunter syndrome. Data regarding the
David A H Whiteman
exaly   +3 more sources

Hunter's syndrome

The Indian Journal of Pediatrics, 1978
A case of Hunter's syndrome in 6-year-old male child is described. Diagnosis was confirmed by the toludine blue ten which is a simple laboratory investigation and should be carried out in suspected ...
P, Chaturvedi, V K, Jain
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The Hurler and Hunter syndromes

The American Journal of Medicine, 1969
Abstract Since the demonstration that acid mucopolysaccharides accumulate in tissue and urines of patients with the Hurler and Hunter syndromes, other mucopolysaccharidoses have been described. Some lipid storage diseases have also been shown to have an increase in acid mucopolysaccharide with the lipid material stored.
A, Dorfman, R, Matalon
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Tracheobronchomalacia in Hunter's syndrome

International Journal of Pediatric Otorhinolaryngology, 1993
Hunter's syndrome is one of a group of heritable metabolic disorders caused by decreased activity of one or more of the lysosomal enzymes responsible for mucopolysaccharide catabolism, resulting in excessive deposition of mucopolysaccharides in skeletal and soft tissues.
J M, Morehead, D S, Parsons
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Bladder Obstruction in Hunter's Syndrome

Scandinavian Journal of Urology and Nephrology, 1999
We report a case of bladder obstruction in a patient with Hunter's syndrome, presenting with acute painful symptomatology, due to the impossibility of voiding, which was diagnosed with ultrasonography and cystometrography. Intermittent catheterization with intravesical oxybutynin chloride lead to successful functional resolution of the obstruction.
Rigante D., Ferrara P., Ricci R., Antuzzi D., Segni G.   +4 more
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GENETIC COUNSELLING FOR HUNTER SYNDROME

The Lancet, 1976
no abstract ...
Epstein, C.j., Yatziv, S., Neufeld, E.f., Liebaers, Ingeborg   +3 more
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