Lesch-Nyhan Disease Differential Diagnoses

  • Author: H A Jinnah, MD, PhD; Chief Editor: Amy Kao, MD   more...
 
Updated: Feb 23, 2012
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

H A Jinnah, MD, PhD  Professor, Departments of Neurology, Human Genetics, and Pediatrics, Emory University School of Medicine

H A Jinnah, MD, PhD is a member of the following medical societies: American Academy of Neurology, American Neurological Association, Movement Disorders Society, and Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD  Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society

Disclosure: Nothing to disclose.

Additional Contributors

Robert J Baumann, MD Professor of Neurology and Pediatrics, Department of Neurology, University of Kentucky College of Medicine

Robert J Baumann, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, and Child Neurology Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Reference Salary Employment

References

  1. Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. Apr 1964;36:561-70. [Medline].

  2. Jinnah HA, Friedmann T. Lesch-Nyhan disease and its variants. In: Scriver CR, Sly WS, Childs B, Beaudet AL, et al, eds. The Molecular and Metabolic Bases of Inherited Disease. 6th ed. New York, NY: McGraw-Hill; 2000:Chapter 107.

  3. Jinnah HA, Visser JE, Harris JC, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain. May 2006;129(Pt 5):1201-17. [Medline].

  4. Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, et al. Attenuated variants of Lesch-Nyhan disease. Brain. Feb 22 2010;[Medline].

  5. Visser JE, Bar PR, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. Brain Res Brain Res Rev. Apr 2000;32(2-3):449-75. [Medline].

  6. Jinnah HA, De Gregorio L, Harris JC, et al. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res. Oct 2000;463(3):309-26. [Medline].

  7. Fu R, Jinnah HA. Genotype-Phenotype Correlations in Lesch-Nyhan Disease: Moving Beyond the Gene. J Biol Chem. Dec 7 2011;[Medline].

  8. Neychev VK, Jinnah HA. Sudden death in Lesch-Nyhan disease. Dev Med Child Neurol. Nov 2006;48(11):923-6. [Medline].

  9. Alford RL, Redman JB, O'Brien WE, et al. Lesch-Nyhan syndrome: carrier and prenatal diagnosis. Prenat Diagn. Apr 1995;15(4):329-38. [Medline].

  10. Nyhan WL, Vuong LU, Broock R. Prenatal diagnosis of Lesch-Nyhan disease. Prenat Diagn. Oct 2003;23(10):807-9. [Medline].

  11. Deon LL, Kalichman MA, Booth CL, Slavin KV, Gaebler-Spira DJ. Pallidal Deep-Brain Stimulation Associated With Complete Remission of Self-injurious Behaviors in a Patient With Lesch-Nyhan Syndrome: A Case Report. J Child Neurol. Sep 22 2011;[Medline].

 
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Purine metabolic pathways.
A small portion of the lower lip has been disfigured by persistent self-biting.
The distal portions of several fingers are shortened by prior uncontrolled self-biting.
The HPRT gene has 9 exons, with the coding region depicted as light gray boxes. Genetic mutations in Lesch-Nyhan disease and its variants are heterogenous and include point mutations leading to amino acid substitution (yellow circles), point mutations leading to premature stop (red squares), insertions (blue triangles), deletions (white lines), and other more complex changes (not shown).
 
 
 
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