Lesch-nyhan syndromeE79.10
Synonym(s)
Automutilation Syndrome; Autophagy; HGPRT deficiency; Hyperuricemia syndrome; Hypoxanthine-guanine phospho-ribosyl transferase deficiency
HistoryThis section has been translated automatically.
Catel and Schmidt, 1959; Lesch and Nyhan, 1964
DefinitionThis section has been translated automatically.
X-chromosomal recessive inherited disorder of the purine metabolism, including skin changes, nephrolithiasis, intelligence defects and self-mutilation tendency.
Occurrence/EpidemiologyThis section has been translated automatically.
Incidence: 1/100.000 inhabitants/year.
EtiopathogenesisThis section has been translated automatically.
X-linked recessive inherited absence of hypoxantine-guanine phosphoribosyl transferase in cells with greatly increased uric acid production and autophagy. Mutations in the gene coding for the enzyme HGPRT (gene locus: Xq26-q27.2) are discussed as the cause. Pathogenetically, this is a disorder in the structure of purine bodies. The consequences are increased uric acid production and uric acid storage in various organs, basal brain ganglia, joints and kidneys.
Clinical featuresThis section has been translated automatically.
- Integument: Ulcerative or crusted skin defects as a result of automutilation in the form of autophagy, esp. on lips, hands, fingers, etc.
- Extracutaneous manifestations: gouty nodules (cartilages of ears, joints, etc.), nephrolithiasis(urate stones), haematuria, gouty arthritis, oligophrenia, developmental delay, nystagmus. Severe mental retardation with spasticity, hyperreflexia, clonus, positive Babinski reflex, choreoathetosis, hyperkinesia and hyperpyrexia seizures, acroosteolysis.
LaboratoryThis section has been translated automatically.
Uric acid 5-15 mg/dl; hyperlipidemia, lack of HGPRTase, secondary anemia.
DiagnosisThis section has been translated automatically.
Prenatal diagnosis possible by detection of missing enzyme activity (HGPRT activity measurement) from amniotic fluid cells and chorionvilli (or molecular genetic by direct mutation detection) Prenatal diagnosis already performed in the pre-implantation (8-cell) stage!
Differential diagnosisThis section has been translated automatically.
Idiopathic mental retardation; epilepsy with involuntary injuries; Cornelia-de-Lange syndrome; Möbius syndrome; Pseudo-Lesch-Nyhan syndrome
Complication(s)This section has been translated automatically.
Renal failure
TherapyThis section has been translated automatically.
Causal therapy not known, allopurinol for hyperuricemia.
Progression/forecastThis section has been translated automatically.
Death mostly around the age of 10 years in the context of organ damage in hyperuricemia and uric acid crystal deposits.
LiteratureThis section has been translated automatically.
- Catel W, Schmidt J (1959) On familial gouty diathesis associated with cerebral and renal symptoms in an infant. Dtsch med Wschr 84: 2145-2147
- Ghei M et al (2002) Pathogenesis of hyperuricemia: recent advances. Curr Rheumatol Rep 4: 270-274
- Gibbs D et al (1984) First-trimester diagnosis of Lesch-Nyhan syndrome. Lancet II: 1180
- Lesch M, Nyhan WL (1964) A familiar disorder of uric acid metabolism and central nervous system function. Am J Med 36: 561-570
- Robey KL et al (2003) Modes and patterns of self-mutilation in persons with Lesch-Nyhan disease. Dev Med Child Neurol 45: 167-171