Lesch-Nyhan syndrome natural history
|
Lesch-Nyhan syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Lesch-Nyhan syndrome natural history On the Web |
|
American Roentgen Ray Society Images of Lesch-Nyhan syndrome natural history |
|
Risk calculators and risk factors for Lesch-Nyhan syndrome natural history |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
Natural History
- Patients with HGPRT deficiency are normal at birth.
- One of the first signs of the disease may be the observation of orange crystals in the diapers, or crystalluria with obstruction of the urinary tract.
- Other uncommon forms of presentation include renal failure or acidosis with repeated vomiting. Psychomotor delay, when present, becomes evident within 3 to 6 months.
- A delay in the acquisition of sitting and head support with hypotonia and athetoid movements may lead to neurological consultation. Self-mutilation, in the form of lip biting or finger chewing, can appear as soon as teeth are present.
- Eventually, as uric acid builds up in tissues, symptoms of spasticity, seizures, nephrolithiasis and self mutilation develop.
Complications
- Severe, progressive disability if likely.
- Spasticity
- Nephrolithiasis
- Urinary tract infection
- Gouty arthritis
- Skin and soft tissue infections
- Hip dysplasia and subluxation
- Pneumonia
- Scoliosis
- Fractures
- Atlanto-axial subluxation
Prognosis
The prognosis for individuals with LNS is poor. Death is usually due to renal failure in the first or second decade of life.