Lesch-Nyhan syndrome: Difference between revisions

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==[[Lesch-Nyhan syndrome historical perspective|Historical Perspective]]==
==[[Lesch-Nyhan syndrome historical perspective|Historical Perspective]]==
==[[Lesch-Nyhan syndrome classification|Classification]]==


==[[Lesch-Nyhan syndrome pathophysiology|Pathophysiology]]==
==[[Lesch-Nyhan syndrome pathophysiology|Pathophysiology]]==


==[[Lesch-Nyhan syndrome differential diagnosis|Differentiating Lesch-Nyhan syndrome from other Diseases]]==
==[[Lesch-Nyhan syndrome causes|Causes]]==
 
==[[Lesch-Nyhan syndrome differential diagnosis|Differentiating Lesch-Nyhan syndrome from Other Diseases]]==


==[[Lesch-Nyhan syndrome epidemiology and demographics|Epidemiology and Demographics]]==
==[[Lesch-Nyhan syndrome epidemiology and demographics|Epidemiology and Demographics]]==
==[[Lesch-Nyhan syndrome risk factors|Risk Factors]]==


==[[Lesch-Nyhan syndrome screening|Screening]]==
==[[Lesch-Nyhan syndrome screening|Screening]]==
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==Diagnosis==
==Diagnosis==
 
[[Lesch-Nyhan syndrome history and symptoms|History and Symptoms]] | [[Lesch-Nyhan syndrome physical examination|Physical Examination]] | [[Lesch-Nyhan syndrome laboratory tests|Laboratory Findings]] | [[Lesch-Nyhan syndrome electrocardiogram|Electrocardiogram]] | [[Lesch-Nyhan syndrome x ray|X ray]] | [[Lesch-Nyhan syndrome CT|CT]] | [[Lesch-Nyhan syndrome MRI|MRI]] | [[Lesch-Nyhan syndrome ultrasound|Ultrasound]] | [[Lesch-Nyhan syndrome other imaging findings|Other Imaging Findings]] | [[Lesch-Nyhan syndrome other diagnostic studies|Other Diagnostic Studies]]
[[Lesch-Nyhan syndrome history and symptoms|History and Symptoms]] | [[Lesch-Nyhan syndrome physical examination|Physical Examination]] | [[Lesch-Nyhan syndrome laboratory tests|Laboratory Findings]] | [[Lesch-Nyhan syndrome x ray|X ray]] | [[Lesch-Nyhan syndrome CT|CT]] | [[Lesch-Nyhan syndrome ultrasound|Ultrasound]]


==Treatment==
==Treatment==
[[Lesch-Nyhan syndrome medical therapy|Medical Therapy]] | [[Lesch-Nyhan syndrome surgery|Surgery]] | [[Lesch-Nyhan syndrome primary prevention|Primary Prevention]] | [[Lesch-Nyhan syndrome secondary prevention|Secondary prevention]] | [[Lesch-Nyhan syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Lesch-Nyhan syndrome future or investigational therapies|Future or Investigational Therapies]]


[[Lesch-Nyhan syndrome medical therapy|Medical Therapy]] | [[Lesch-Nyhan syndrome primary prevention|Primary Prevention]] | [[Lesch-Nyhan syndrome secondary prevention|Secondary prevention]]
==Case Studies==
[[Lesch-Nyhan syndrome case study one|Case #1]]


==External links==
==External links==
*[http://www.nichd.nih.gov National Institute of Child Health and Human Development (NICHD)]
*[http://www.nichd.nih.gov National Institute of Child Health and Human Development (NICHD)]
{{Endocrine, nutritional and metabolic pathology}}
{{Endocrine, nutritional and metabolic pathology}}




[[Category:Pediatrics]]
[[Category:Pediatrics]]
[[Category:Inborn errors of metabolism]]
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
[[Category:Rare diseases]]
[[Category:Syndromes]]


[[da:Lesch-Nyhans syndrom]]
[[da:Lesch-Nyhans syndrom]]
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[[pl:Zespół Lescha-Nyhana]]
[[pl:Zespół Lescha-Nyhana]]
[[ru:Синдром Лёша — Нихена]]
[[ru:Синдром Лёша — Нихена]]
[[Category:Inborn errors of metabolism]]
 


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{{WikiDoc Help Menu}}
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Revision as of 18:45, 26 July 2016

Lesch-Nyhan syndrome
Philip Baker, an adult with Lesch-Nyhan Syndrome. Visible in this picture are the restraints on Philip's chair that he must use to control his involuntary movement.
ICD-10 E79.1
ICD-9 277.2
OMIM 308000 300322
DiseasesDB 7415
MedlinePlus 001655

Lesch-Nyhan syndrome Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Lesch-Nyhan syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]

Synonyms and keywords: Hypoxanthine-guanine phosphoribosyltranferase deficiency; HGPRT-1 deficiency; HGPRT deficiency; Nyhan's syndrome; LNS

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Lesch-Nyhan syndrome from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X ray | CT | MRI | Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

External links

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