Recurrent Fevers, Dysautonomia, and Dehydration in a Patient With Lesch-Nyhan Syndrome

被引:0
作者
Pan, Samuel [1 ]
Truss, Annie [2 ]
Hussain, Sabiha [3 ]
机构
[1] Mt Sinai Hosp, Dept Med, New York, NY 10029 USA
[2] Rutgers Robert Wood Johnson Med Sch, Dept Family Med, Piscataway, NJ USA
[3] Rutgers Robert Wood Johnson Univ Hosp, Div Pulm & Crit Care Med, New Brunswick, NJ USA
关键词
hyperthermia; dopamine signaling; neuroleptic malignant syndrome; dysautonomia; lesch-nyhan syndrome; DOPAMINE; BRAIN; THERMOREGULATION; TEMPERATURE;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Lesch-Nyhan syndrome (LNS) is a disease characterized by a reduced ability to recycle purines, leading to increased de novo purine synthesis and uric acid production. Patients classically present with an array of hyperuricemic, neurologic, and behavioral symptoms. In this report, we describe a 26-year-old male with a history of LNS and recurrent fevers of unknown origin who presented to the emergency department (ED) with a fever, hypotension, and hypernatremia. We suspect that our patient's presentation was caused by autonomic instability in the setting of LNS leading to excessive free water loss. This report highlights a rare but life-threatening manifestation of LNS.
引用
收藏
页数:5
相关论文
共 20 条
  • [1] Lesch-Nyhan Syndrome: Models, Theories, and Therapies
    Bell, Scott
    Kolobova, Ilaria
    Crapper, Liam
    Ernst, Carl
    [J]. MOLECULAR SYNDROMOLOGY, 2016, 7 (06) : 302 - 311
  • [2] Neuroleptic Malignant Syndrome: A Review for Neurohospitalists
    Berman, Brian D.
    [J]. NEUROHOSPITALIST, 2011, 1 (01) : 41 - 47
  • [3] BREESE GR, 1984, J PHARMACOL EXP THER, V231, P343
  • [4] New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients
    Ceballos-Picot, Irene
    Le Dantec, Aurelia
    Brassier, Anais
    Jais, Jean-Philippe
    Ledroit, Morgan
    Cahu, Julie
    Ea, Hang-Korng
    Daignan-Fornier, Bertrand
    Pinson, Benoit
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2015, 10
  • [5] FURTHER EVIDENCE FOR A PHYSIOLOGICAL-ROLE FOR HYPOTHALAMIC DOPAMINE IN THERMOREGULATION IN THE RAT
    COX, B
    LEE, TF
    [J]. JOURNAL OF PHYSIOLOGY-LONDON, 1980, 300 (MAR): : 7 - 17
  • [6] Presynaptic dopaminergic deficits in Lesch-Nyhan disease
    Ernst, M
    Zametkin, AJ
    Matochik, JA
    Pascualvaca, D
    Jons, PH
    Hardy, K
    Hankerson, JG
    Doudet, DJ
    Cohen, RM
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1996, 334 (24) : 1568 - 1572
  • [7] Acute dopamine/norepinephrine reuptake inhibition increases brain and core temperature in rats
    Hasegawa, H
    Meeusen, R
    Sarre, S
    Diltoer, M
    Piacentini, MF
    Michotte, Y
    [J]. JOURNAL OF APPLIED PHYSIOLOGY, 2005, 99 (04) : 1397 - 1401
  • [8] LESCH-NYHAN SYNDROME - LOW DOPAMINE-BETA-HYDROXYLASE ACTIVITY AND DIMINISHED SYMPATHETIC RESPONSE TO STRESS AND POSTURE
    LAKE, CR
    ZIEGLER, MG
    [J]. SCIENCE, 1977, 196 (4292) : 905 - 906
  • [9] LeDoux MS., 2005, Current clinical Neurology, P159, DOI [10.1385/1-59259-859-5:159, DOI 10.1385/1-59259-859-5:159]
  • [10] BIOCHEMICAL-EVIDENCE OF DYSFUNCTION OF BRAIN NEUROTRANSMITTERS IN THE LESCH-NYHAN SYNDROME
    LLOYD, KG
    HORNYKIEWICZ, O
    DAVIDSON, L
    SHANNAK, K
    FARLEY, I
    GOLDSTEIN, M
    SHIBUYA, M
    KELLEY, WN
    FOX, IH
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1981, 305 (19) : 1106 - 1111