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. The diagnosis should be alleged when developmental delay is associated with kidney stones (nephrolithiasis) or blood in the urine (hematuria), caused by uric acid stones. For the most part, Lesch-Nyhan syndrome is first suspected when self-inflicted injury behavior develops. However, self-injurious behaviors occur in other conditions, including nonspecific mental retardation, autism, Rett syndrome, Cornelia de Lange syndrome, Tourette syndrome, familial dysautonomia, choreoacanthocytosis, sensory neuropathy including hereditary sensory neuropathy type 1, and several psychiatric conditions. Of these, only individuals with Lesch-Nyhan syndrome, de Lange syndrome, and familial dysautonomia recurrently display loss of tissue as a consequence. Biting the fingers and lips is a definitive feature of Lesch-Nyhan syndrome; in other syndromes associated with self-injury, the behaviors usually consist of head banging and nonspecific self-mutilation, but not biting of the cheeks, lips and fingers. Lesch-Nyhan syndrome ought to be clearly considered only when self-injurious behavior takes place in conjunction with hyperuricemia and neurological dysfunction.
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.