RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Marciniak, Bruno
A1 Dalens, Bernard J.
SR Print(0)
ID 58080983
T1 Infantile Sialic Acid Storage Disease
T2 Syndromes: Rapid Recognition and Perioperative Implications
YR 2006
FD 2006
PB The McGraw-Hill Companies
PP New York, NY
SN 9780071354554
LK accessanesthesiology.mhmedical.com/content.aspx?aid=58080983
RD 2024/04/19
AB Autosomal  recessive  inherited  metabolic  disorder  characterized  by  hyperexcretion  of  free  sialic  acid  in  the  urine  and  by  its  storage  in  the  lysosomes  of  different  tissues.  Clinical  features  include  coarse  facial  abnormalities,  clear  cornea,  albinoid  fungi,  ptosis,  nystagmus,  anteverted  nose,  high-arched  palate,  cardiomegaly,  heart  failure,  hepatosplenomegaly,  nephrotic  syndrome,  hypotonia,  and  developmental  delay.  Neonatal  ascites,  hydrops  fetalis,  and  early  death  can  occur.