1/7. lesch-nyhan syndrome presenting as acute renal failure secondary to obstructive uropathy.lesch-nyhan syndrome is a rare genetic disorder characterized by mental retardation, self-mutilation, choreoathetosis, and hyperuricemia. The disease is caused by a mutation in the hypoxanthine-guanine phosphoribosyltransferase gene and is transmitted as a sex-linked recessive disorder. Since hyperuricemia is the primary metabolic problem caused by a hypoxanthine-guanine phosphoribosyltransferase mutation, urologic evaluation and treatment is often necessary for children with this disease. We report a 3-year-old boy who presented with anuric renal failure secondary to bilateral obstructing uric acid calculi. The evaluation of T lymphocytes revealed a hypoxanthine-guanine phosphoribosyltransferase mutation consistent with lesch-nyhan syndrome. The diagnosis and urologic management of this disorder is discussed.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |
2/7. Case report: the lesch-nyhan syndrome.BACKGROUND: The lesch-nyhan syndrome (LNS) is a rare x-linked excessive disorder of purine metabolism, caused by the congenital absence of hypoxanthine guanine phosphoribosyl transferase (HGPRT). CASE REPORT: In January 2000 a 2 year old boy was referred to a paediatric dental office in Landshut, germany, because of severe and repeated lip chewing and aggressive tongue biting. A medical history revealed a normal pregnancy with no complications but a diagnosis of muscular hypotonia was made at four months of age. At 18 months a diagnosis of LNS was established through biochemical analysis and molecular examinations. The child displayed self-destructive behaviour, typical in children with LNS. Shortly thereafter the patient was supplied with arm cuffs for self-protection which were not tolerated and the self-mutilation continued. Eventually the extraction of all primary teeth was deemed necessary to prevent additional medical problems for this child. FOLLOW-UP: One year after the dental extractions the patient presented with no bite injuries but was now using his fingers to injure himself.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |
3/7. Renal sonography in long standing lesch-nyhan syndrome.The lesch-nyhan syndrome is an x-linked defect of purine metabolism resulting in its classical form in major neurodevelopmental abnormality, hyperuricaemia, and hyperuricosuria. uric acid calculi and crystalluria are common. allopurinol is the main method of reducing serum and urinary uric acid levels, but results in xanthinuria and oxypurinoluria, both of which may cause crystal nephropathy and calculi. The variable ultrasonic appearances of multiple calculi and increased medullary echogenicity in four cases of long-standing treated disease and the nature of the renal disorder, which is at least partially iatrogenic, are described.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |
4/7. Gilles de la tourette syndrome: further studies and thoughts.A possible association between the Gilles de la Tourette and Lesch-Nyhan syndromes has recently been postulated. Fourteen patients with tourette syndrome demonstrated no similarity to Lesch-Nyhan based upon patterns of inheritance, behavioral changes, or alterations of purine metabolism. Despite a strong male predominance, a sex-linked pattern of inheritance could not be confirmed. Self-mutilating behavior was found in 4 male patients but was readily differentiated from that characteristic of the lesch-nyhan syndrome. Quantitation of hypoxanthine-guanine phosphoribosyltransferase and isoelectric focusing of its isoenzymes produced results that were indistinguishable from those in controls. We speculate that, pathophysiologically, tourette syndrome represents an imbalance between the central neurotransmitters dopamine and serotonin rather than an alteration in purine metabolism.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |
5/7. The orofacial manifestations of the lesch-nyhan syndrome.The lesch-nyhan syndrome is a rare sex-linked inborn error of purine metabolism characterised by hyperuricaemia, mental handicap, neurologic disorders, and self-destructive behaviour. The literature is reviewed and a 12-year-old patient exhibiting mutilation of the lip and tongue is reported.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |
6/7. lesch-nyhan syndrome: surgical treatment in a case with lip chewing. A case report.lesch-nyhan syndrome (LNS) is a biochemical disorder characterized by a virtually complete deficiency of an enzyme of purine metabolism, hypoxanthineguanine phosphoribosyltransferase. This sex-linked recessive inborn error of metabolism is characterized clinically by: hyperuricaemia, excessive production of uric acid, certain characteristic neurological features including self-mutilation, choreoathetosis, spasticity and mental retardation. This paper will review the clinical, biochemical and genetic features of lesch-nyhan syndrome and report a case in which repeated lip chewing resulted in destruction of the lower lip and the need for surgical intervention.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |
7/7. A female case of the Leach-Nyhan syndrome.The classical lesch-nyhan syndrome has the deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity as the result of mutation in the structural gene for the enzyme located on the x chromosome and is believed to be of X-linked recessive or sex-linked mode of inheritance. This is the first report of a girl who showed typical clinical features and biochemical characteristics of the classical lesch-nyhan syndrome. Her mother was not a heterozygote for a deficiency of HGPRT. Possible genetic mechanisms responsible for this case were discussed.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |