RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164073865
T1 Infantile Sialic Acid Storage Disease
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=1164073865
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.  It  is  the  most  severe  form  of  the  sialic  acid  storage  diseases.  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.