Lesch-Nyhan syndrome or disease

Alternative eponyms

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A syndrome characterised by mental retardation, severely impaired growth, tendency to self mutilation, dislocation of eyes and extrapyramidal signs.

Description

A rare and devastating genetic disorder of purine metabolism whereby hypoxanthine guanine phosphoribosyltransferase (HGPRT) results in overproduction of purine and consequently uric acid. Clinically the main characteristics are severe (usually) mental retardation, severely impaired growth, and tendency to self mutilation by lip, thumb, and foot biting; dislocation of eyes; face scratching; head banging. There are extrapyramidal signs with lack of coordination, aggressive behaviour, exaggerated tendon reflexes and positive Babinski signs. Epileptic seizures are present in about half the patients. Renal failure can occur before puberty.

Patients are normal at birth but become irritable by 2-4 months. Self-destructive behaviour usually starts at 2 years of age. The disease almost exclusively affects males and is impossible to detect before delivery unless the mother is known to carry the gene. Etiology unknown. Sex-linked type of inheritance. Since the defective gene is recessive, females almost never exhibit the disease, but may be carriers. There are only two documented cases in females. Even distribution among races and geographic locales. Occurrence is approximately one in 380.000 births.

It was probably first described in 1959 by Werner Catel (1894-1981) and J. Schmidt, German physicians. Michael Lesch and William Leo Nyhan in 1964 elucidated the defect in their description of two brothers.

See also Kelley-Seegmiller syndrome, under William N. Kelley, American physician, born 1939.

Bibliography

  • W. Catel, J. Schmidt:
    Über familiäre gichtische Diathese in Verbindung mit zerebralen und renalen Symptomen bei einem Kleinkind.
    Deutsche medicinische Wochenschrift, Stuttgart, 1959, 84: 2145-2147.
  • M. Lesch, W. L. Nyhan:
    A familial disorder of uric acid metabolism and central nervous system function.
    American Journal of Medicine, New York, 1964, 36: 561-570.

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