RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164076762
T1 Lesch-Nyhan Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164076762
RD 2024/04/19
AB It  is  a  rare  inborn  error  of  purine  metabolism  that  becomes  apparent  between  the  ages  of  3  and  6  months.  It  is  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.