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Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment

Yun JH, Hong YH, Seo GH, Shin YL

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized...
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A Case of Lesch-Nyhan Syndrome Manifesting Only Chronic Gouty Arthritis without Neurologic Symptom

Yeo Y, Choi EY, Yoon HJ, Jung S, Kim D, Lee S, Joo KB, Jun JB

Deficiency of hypoxanthine-guanine phosphoribosyltransferase is a purine nucleotide disorder and is the most common genetic cause of uric acid overproduction. This disease has a wide range of spectrum with regard...
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A Case of Lesch-Nyhan Disease Manifesting Gouty Arthritis without Self-mutilation

Kwon BW, Hyun KH, Han JH, Kim SM, Lee SS, Choo YK, Lee EK

  • KMID: 2253208
  • Korean J Nephrol.
  • 2009 Jan;28(1):58-62.
Lesch-Nyhan disease is a very rare X-linked recessive disorder characterized by mental retardation, spasticity resembling cerebral palsy, choreoathetosis, self-mutilation and hyperuricemia. Self-mutilative behavior is a hallmark of the disease. The...
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General Anesthesia for Extracorporeal Shockwave Lithotripsyin Child with Lesch-Nyhan Syndrome

Park SJ, Kwon IC, Lee WK, Lee DH

  • KMID: 2320120
  • Yeungnam Univ J Med.
  • 2008 Jun;25(1):78-83.
Lesch-Nyhan syndrome is an inborn error of purine metabolism resulting from hypoxanthine-guanine-phosphoribosyltransferase (HGPRT) deficiency and leading to excess purine production and uric acid over-production. It is a very rare X-linked...
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Anesthetic Experience of Percutaneous Nephrolithotomy for Renal Calculi in a Patient with Lesch-Nyhan Syndrome: A case report

Jun IG, Chin JH, Kim YK, Kim YU, Cho SK, Hwang GS, Hwang JH

Lesch-Nyhan syndrome (LNS) is a rare, X-linked recessive inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine-phophoribosyltransferase, leading to excessive purine production and elevation of uric acid. Clinical manifestations...
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Three Cases of Lesch-Nyhan Syndrome: Cases report

Shin YB, Han JE, Kim KM, Yang SH, Im DS

  • KMID: 2178522
  • J Korean Acad Rehabil Med.
  • 2005 Dec;29(6):673-677.
Lesch-Nyhan syndrome is a rare X-linked recessive metabolic disorder characterized by developmental delay, hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive self-injurious behavior. This disorder results from a complete deficiency of...
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A Case of Lesch-Nyhan Syndrome

Kim JS, Lee JS, Noh HY, Kim BJ, Woo YJ, Park JM, Kim MG, Kim GH, Yoo HW

  • KMID: 2335733
  • J Korean Pediatr Soc.
  • 2003 May;46(5):505-509.
Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme,...
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Molecular characterization and Prenatal Molecular Evaluation of three fetuses in four unrelated Korean families with Lesch-Nyhan syndrome

Yoo HW, Kim GH

  • KMID: 1538079
  • J Genet Med.
  • 1998 Mar;2(1):17-22.
The Lesch-Nyhan syndrome which is caused by the deficiency of hypoxanthine guanine phosphoribosyltransferase is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, mental retardation and compulsive self-injurious behavior. Clinical management...
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