TY  - CHAP
M1  - Book, Section
TI  - Lesch-Nyhan Syndrome
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Marciniak, Bruno
A1  - Dalens, Bernard J.
Y1  - 2006
N1  - 
T2  - Syndromes: Rapid Recognition and Perioperative Implications
AB  - Rare  inborn  error  of  purine  metabolism  that  becomes  apparent  between  the  ages  of  3  and  6  months.  Characterized  by  the  presence  of  orange  crystal-like  deposits  (“orange  sand”)  in  the  diapers  of  infants  with  the  disorder.  This  is  frequently  the  first  symptom  of  Lesch-Nyhan  syndrome.  Other  clinical  features  include  hematuria,  urinary  tract  infections,  arthritis,  choreoathetosis  manifested  by  raising  and  lowering  of  the  shoulders,  and  facial  grimacing.  Hypotonia,  hypertonia,  hyperreflexia,  and  spasticity  have  been  reported.  Megaloblastic  anemia,  self-mutilating  behavior,  irritability,  screaming,  uncontrolled  aggressiveness,  and  compulsive  actions  complete  the  clinical  presentation.  
SN  - 
PB  - The McGraw-Hill Companies
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessanesthesiology.mhmedical.com/content.aspx?aid=58074180
ER  -