PMID: 6413286Aug 1, 1983Paper

The natural history of the severe form of Hunter's syndrome: a study based on 52 cases

Developmental Medicine and Child Neurology
I D Young, P S Harper

Abstract

During a national survey of Hunter's syndrome, 52 boys with the severe form were ascertained. The average ages of onset and death were 2.47 and 11.77 years respectively. Most patients had a large head and short stature. Persistent diarrhoea was noted in 65 per cent of the patients. 76 per cent had an umbilical hernia. Right and left inguinal herniae were noted in 51 and 32 per cent respectively. Evidence of cardiovascular disease was found in 65 per cent of cases; and serious lower respiratory-tract disease occurred in 84 per cent. Induction of anaesthesia proved difficult or impossible in five boys. The disease pattern was dominated by the effects of neurological involvement, with initial developmental delay and behavioural disturbance, followed by regression, with convulsions and pyramidal tract signs. Death was due primarily to this neurodegenerative cachexia, with superimposed respiratory disease.

References

Dec 1, 1977·Journal of Medical Genetics·S Yatziv, C J Epstein
Jan 1, 1968·Archiv für klinische und experimentelle Ohren- Nasen- und Kehlkopfheilkunde·G Zechner, F Altmann
Dec 1, 1969·The Biochemical Journal·H G Hers, F van Hoof
Jan 1, 1972·Ergebnisse der inneren Medizin und Kinderheilkunde·J Spranger
Aug 1, 1967·Journal of Pediatric Surgery·M M WoolleyD M Hays
May 1, 1980·Pediatric Research·U N WiesmannN Herschkowitz
Apr 27, 1981·Clinica Chimica Acta; International Journal of Clinical Chemistry·I M ArcherF S Wusteman
Dec 1, 1982·Journal of Medical Genetics·I D YoungR G Newcombe
Apr 1, 1965·Journal of Neuropathology and Experimental Neurology·F P ALEUH ZELLWEGER
Jun 1, 1952·Archives of Disease in Childhood·J L HENDERSONR HOLDEN

❮ Previous
Next ❯

Citations

Jun 1, 2000·Bone Marrow Transplantation·C Peters, W Krivit
Apr 18, 2009·Pediatrics International : Official Journal of the Japan Pediatric Society·Izumi KuratsuboNaomi Kondo
Jan 11, 2012·Rheumatology·Kimberly Morishita, Ross E Petty
Mar 3, 2012·European Journal of Pediatrics·Barbara K Burton, Roberto Giugliani
May 23, 2012·Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation·Ingela WiklundWen-Hung Chen
Mar 8, 2013·European Journal of Pediatrics·Gabriel M CohnUNKNOWN Hunter Outcome Survey Investigators
Nov 18, 2018·Italian Journal of Pediatrics·Cinzia GalimbertiAgata Fiumara
Jan 1, 2007·Expert Review of Endocrinology & Metabolism·Kim L McBride
May 1, 2006·Expert Review of Endocrinology & Metabolism·Ashok Vellodi
Jul 12, 2008·Journal of Inherited Metabolic Disease·S Al SawafB Hoffmann
Mar 15, 2012·Developmental Medicine and Child Neurology·Paolo BonanniMaurizio Scarpa
Apr 1, 2010·Journal of Pediatric Orthopedics. Part B·Sandra Regina MoriniLelia Britto Passos Gerson
Jun 2, 2011·Toxicologic Pathology·Brian R FelicePericles Calias
Mar 27, 2013·American Journal of Medical Genetics. Part a·Young Bae SohnDong-Kyu Jin
Nov 1, 2013·Journal of Inherited Metabolic Disease·J de RuijterF A Wijburg
Feb 5, 2016·The Cochrane Database of Systematic Reviews·Edina M K da SilvaLaercio A Silva
Jan 16, 2016·British Journal of Nursing : BJN·Jane RobertsShauna Kearney
Apr 12, 2001·International Journal of Experimental Pathology·B GuertlG Hoefler
Jan 8, 2003·The Journal of Gene Medicine·Youngtae HongSunyoung Kim
Jun 12, 2008·American Journal of Medical Genetics. Part a·Taiane VieiraRoberto Giugliani
Nov 1, 2011·European Journal of Pediatrics·Joseph MuenzerPaul Harmatz
Nov 4, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Nancy J MendelsohnUNKNOWN Hunter Outcome Survey Investigators
Jan 12, 2016·Expert Opinion on Emerging Drugs·Roberto GiuglianiGuilherme Baldo
Aug 26, 2011·Journal of Inherited Metabolic Disease·Annerose KeilmannUNKNOWN HOS Investigators
Mar 30, 2007·Acta Paediatrica. Supplement·Ida V D SchwartzRoberto Giugliani
Jun 27, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·J Edmond WraithUNKNOWN HOS Investigators
Jan 15, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Joseph MuenzerJames E Wraith
Jul 1, 1993·Indian Journal of Pediatrics·K S DeviB S Rao
Jul 10, 1999·Journal of Inherited Metabolic Disease·A VellodiJ E Wraith
Mar 8, 2021·BMC Medical Genomics·Alla Nikolaevna SemyachkinaEkaterina Yurievna Zakharova
Mar 21, 2021·Molecular Genetics and Metabolism·Elsa G Shapiro, Julie B Eisengart
May 3, 2011·The Journal of Pediatrics·Christoph KampmannJames P Loehr
Jul 15, 2021·Molecular Genetics and Metabolism Reports·Mojca Zerjav TansekUrh Groselj
Jul 13, 2021·Molecular Genetics and Metabolism·Julie B EisengartCara O'Neill
Aug 8, 2021·International Journal of Molecular Sciences·Christiane S HampeR Scott McIvor
Jul 4, 2009·Journal of Pediatric Surgery·Christopher BarnettDavid Chitayat

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cachexia & Brown Fat

Cachexia is a condition associated with progressive weight loss due to severe illness. In cancer patients, it is proposed to occur as a result of tumor-induced energy wasting. Several proteins have been implicated in browning and depletion of white adipose tissue. Here is the latest research on cachexia and brown fat.

Cardiac Cachexia

Cardiac cachexia is a syndrome associated with the progressive loss of muscle and fat mass. It most commonly affects patients with heart failure and can significantly decrease the quality of life and survival in these patients. Here is the latest research on cardiac cachexia.

Related Papers

Child: Care, Health and Development
I D Young, P S Harper
Journal of the Royal College of Surgeons of Edinburgh
E McGuganA M Thompson
The Journal of Craniofacial Surgery
Peter J AndersonDavid J David
© 2021 Meta ULC. All rights reserved