Lesch-Nyhan syndrome differential diagnosis
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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]
Overview
Differentiating Lesch-Nyhan syndrome from other similarly presenting diseases is crucial as the treatment protocol varies with the diagnosis.
Differential Diagnosis
- Cerebral palsy[1]
- Diseases with developmental delay
- Diseases with dystonia
- Mental retardation
- Autism
- Rett syndrome
- Tourette syndrome
- Prader-Willi syndrome
- Fragile X syndrome
- Cornelia de Lange syndrome
The above conditions present similar to Lesch-Nyhan syndrome with developmental delay, hypotonia and dystonia as prominent features in early phases of the disease process[2], until later in the course, self mutilation, spasticity and seizures develop. However, they can be differentiated on the basis of laboratory tests:
- Blood urea levels:
- Hyperuricemia is typical for Lesch-Nyhan syndrome.
- HGPRT gene analysis
- HGPRT enzyme activity provide confirmatory diagnosis
References
- ↑ Mitchell G, McInnes RR (1984). "Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation". Canadian Medical Association Journal. 130 (10): 1323–4. PMC 1483507. PMID 6722697. Unknown parameter
|month=ignored (help) - ↑ Vranjesević D, Dukić A, Drndarski I (1989). "Lesch-Nyhan syndrome: the differential diagnosis and actual aspects". Neurologija. 38 (4): 359–66. PMID 2702335.