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Lesch-Nyhan Disease Differential Diagnoses

  • Author: H A Jinnah, MD, PhD; Chief Editor: Amy Kao, MD  more...
 
Updated: Dec 14, 2015
 
 
 
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, International Parkinson and Movement Disorder Society, 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 Epilepsy Society, Child Neurology Society

Disclosure: Have stock from Cellectar Biosciences; have stock from Varian medical systems; have stock from Express Scripts.

Acknowledgements

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. 1964 Apr. 36:561-70. [Medline].

  2. Jinnah HA, Friedmann T. Lesch-Nyhan disease and its variants. 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. 2006 May. 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. 2010 Feb 22. [Medline]. [Full Text].

  5. Visser JE, Bar PR, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. Brain Res Brain Res Rev. 2000 Apr. 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. 2000 Oct. 463(3):309-26. [Medline].

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

  8. Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, et al. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain. 2013 Aug 22. [Medline].

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

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

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

  12. Schretlen DJ, Varvaris M, Ho TE, Vannorsdall TD, Gordon B, Harris JC, et al. Regional Brain Volume Abnormalities in Lesch-Nyhan Disease and its Variants. Lancet Neurology. 2013.

  13. 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. 2011 Sep 22. [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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