{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,28]],"date-time":"2024-05-28T00:20:28Z","timestamp":1716855628805},"reference-count":20,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,27]]},"DOI":"10.7759\/cureus.61170","type":"journal-article","created":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T14:08:10Z","timestamp":1716818890000},"source":"Crossref","is-referenced-by-count":0,"title":["Recurrent Fevers, Dysautonomia, and Dehydration in a Patient With Lesch-Nyhan Syndrome"],"prefix":"10.7759","author":[{"given":"Samuel","family":"Pan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annie","family":"Truss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabiha","family":"Hussain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1159\/000449296","article-title":"Lesch-Nyhan syndrome: models, theories, and therapies","volume":"7","author":"Bell S","year":"2016","unstructured":"Bell S, Kolobova I, Crapper L, Ernst C. Lesch-Nyhan syndrome: models, theories, and therapies. Mol Syndromol. 2016, 7:302-11. 10.1159\/000449296","journal-title":"Mol Syndromol"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.17352\/acn.000034","article-title":"Malignant hyperthermia in Lesch-Nyhan disease","volume":"5","author":"Nyhan WL","year":"2019","unstructured":"Nyhan WL, Lucas M. Malignant hyperthermia in Lesch-Nyhan disease. Arch Clin Nephrol. 2019, 5:001-2. 10.17352\/acn.000034","journal-title":"Arch Clin Nephrol"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12249","article-title":"Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch-Nyhan syndrome","volume":"62","author":"Rana M","year":"2021","unstructured":"Rana M, Cuttin K, Berry GT, Torres A. Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch-Nyhan syndrome. JIMD Rep. 2021, 62:30-4. 10.1002\/jmd2.12249","journal-title":"JIMD Rep"},{"key":"ref4","article-title":"Neuroleptic malignant syndrome","author":"Simon LV","year":"2024","unstructured":"Simon LV, Hashmi MF, Callahan AL. Neuroleptic malignant syndrome. StatPearls Publishing, Treasure Island, FL; 2024."},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1177\/1941875210386491","article-title":"Neuroleptic malignant syndrome: a review for neurohospitalists","volume":"1","author":"Berman BD","year":"2011","unstructured":"Berman BD. Neuroleptic malignant syndrome: a review for neurohospitalists. Neurohospitalist. 2011, 1:41-7. 10.1177\/1941875210386491","journal-title":"Neurohospitalist"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199606133342403","article-title":"Presynaptic dopaminergic deficits in Lesch-Nyhan disease","volume":"334","author":"Ernst M","year":"1996","unstructured":"Ernst M, Zametkin AJ, Matochik JA, et al.. Presynaptic dopaminergic deficits in Lesch-Nyhan disease. N Engl J Med. 1996, 334:1568-72. 10.1056\/NEJM199606133342403","journal-title":"N Engl J Med"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198111053051902","article-title":"Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome","volume":"305","author":"Lloyd KG","year":"1981","unstructured":"Lloyd KG, Hornykiewicz O, Davidson L, et al.. Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. N Engl J Med. 1981, 305:1106-11. 10.1056\/NEJM198111053051902","journal-title":"N Engl J Med"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/s0387-7604(00)00143-1","article-title":"Neurotransmitter changes in the pathophysiology of Lesch-Nyhan syndrome","volume":"22","author":"Saito Y","year":"2000","unstructured":"Saito Y, Takashima S. Neurotransmitter changes in the pathophysiology of Lesch-Nyhan syndrome. Brain Dev. 2000, 22:S122-31. 10.1016\/s0387-7604(00)00143-1","journal-title":"Brain Dev"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.11.5539","article-title":"Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo","volume":"93","author":"Wong DF","year":"1996","unstructured":"Wong DF, Harris JC, Naidu S, et al.. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc Natl Acad Sci U S A. 1996, 93:5539-43. 10.1073\/pnas.93.11.5539","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1980.sp013147","article-title":"Further evidence for a physiological role for hypothalamic dopamine in thermoregulation in the rat","volume":"300","author":"Cox B","year":"1980","unstructured":"Cox B, Lee TF. Further evidence for a physiological role for hypothalamic dopamine in thermoregulation in the rat. J Physiol. 1980, 300:7-17. 10.1113\/jphysiol.1980.sp013147","journal-title":"J Physiol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1152\/japplphysiol.00435.2005","article-title":"Acute dopamine\/norepinephrine reuptake inhibition increases brain and core temperature in rats","volume":"99","author":"Hasegawa H","year":"2005","unstructured":"Hasegawa H, Meeusen R, Sarre S, Diltoer M, Piacentini MF, Michotte Y. Acute dopamine\/norepinephrine reuptake inhibition increases brain and core temperature in rats. J Appl Physiol (1985). 2005, 99:1397-401. 10.1152\/japplphysiol.00435.2005","journal-title":"J Appl Physiol (1985)"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1385\/1-59259-859-5:159","article-title":"Thermoregulatory dysfunction","author":"LeDoux MS","year":"2005","unstructured":"LeDoux MS. Thermoregulatory dysfunction. Parkinson's disease and nonmotor dysfunction. Current clinical Neurology. Pfeiffer RF, Bodis-Wollner I (ed): Humana Press, 2005. 159-72. 10.1385\/1-59259-859-5:159"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1126\/science.163.3866.473","article-title":"Thermoregulation: effects of environmental temperature on turnover of hypothalamic norepinephrine","volume":"163","author":"Simmonds MA","year":"1969","unstructured":"Simmonds MA, Iversen LL. Thermoregulation: effects of environmental temperature on turnover of hypothalamic norepinephrine. Science. 1969, 163:473-4. 10.1126\/science.163.3866.473","journal-title":"Science"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1126\/science.860124","article-title":"Lesch-Nyhan syndrome: low dopamine-beta-hydroxylase activity and diminished sympathetic response to stress and posture","volume":"196","author":"Lake CR","year":"1977","unstructured":"Lake CR, Ziegler MG. Lesch-Nyhan syndrome: low dopamine-beta-hydroxylase activity and diminished sympathetic response to stress and posture. Science. 1977, 196:905-6. 10.1126\/science.860124","journal-title":"Science"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1126\/science.186.4167.934","article-title":"Lesch-Nyhan syndrome: evidence for abnormal adrenergic function","volume":"186","author":"Rockson S","year":"1974","unstructured":"Rockson S, Stone R, Van der Weyden M, Kelley WN. Lesch-Nyhan syndrome: evidence for abnormal adrenergic function. Science. 1974, 186:934-5. 10.1126\/science.186.4167.934","journal-title":"Science"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1289\/ehp.00108s3409","article-title":"Dopamine function in Lesch-Nyhan disease","volume":"108 Suppl 3","author":"Nyhan WL","year":"2000","unstructured":"Nyhan WL. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect. 2000, 108 Suppl 3:409-11. 10.1289\/ehp.00108s3409","journal-title":"Environ Health Perspect"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23478","article-title":"Levodopa is not a useful treatment for Lesch-Nyhan disease","volume":"26","author":"Visser JE","year":"2011","unstructured":"Visser JE, Schretlen DJ, Bloem BR, Jinnah HA. Levodopa is not a useful treatment for Lesch-Nyhan disease. Mov Disord. 2011, 26:746-9. 10.1002\/mds.23478","journal-title":"Mov Disord"},{"key":"ref18","article-title":"Behavioral differences between neonatal and adult 6-hydroxydopamine-treated rats to dopamine agonists: relevance to neurological symptoms in clinical syndromes with reduced brain dopamine","volume":"231","author":"Breese GR","year":"1984","unstructured":"Breese GR, Baumeister AA, McCown TJ, et al.. Behavioral differences between neonatal and adult 6-hydroxydopamine-treated rats to dopamine agonists: relevance to neurological symptoms in clinical syndromes with reduced brain dopamine. J Pharmacol Exp Ther. 1984, 231:343-54.","journal-title":"J Pharmacol Exp Ther"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0219-0","article-title":"New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients","volume":"10","author":"Ceballos-Picot I","year":"2015","unstructured":"Ceballos-Picot I, Le Dantec A, Brassier A, et al.. New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients. Orphanet J Rare Dis. 2015, 10:7. 10.1186\/s13023-014-0219-0","journal-title":"Orphanet J Rare Dis"},{"key":"ref20","article-title":"Lesch-Nyhan syndrome","author":"Nanagiri A","year":"2023","unstructured":"Nanagiri A, Shabbir N. Lesch-Nyhan syndrome. StatPearls Publishing, Treasure Island, FL; 2023."}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/220174-recurrent-fevers-dysautonomia-and-dehydration-in-a-patient-with-lesch-nyhan-syndrome","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T14:08:13Z","timestamp":1716818893000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/220174-recurrent-fevers-dysautonomia-and-dehydration-in-a-patient-with-lesch-nyhan-syndrome"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,27]]},"references-count":20,"URL":"https:\/\/doi.org\/10.7759\/cureus.61170","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,5,27]]}}}