RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164074545
T1 Juvenile Sulfatidosis Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164074545
RD 2024/04/16
AB It  is  a  very  rare  inborn  error  of  metabolism  combining  the  characteristics  of  metachromatic  leukodystrophy  and  mucopolysaccharidosis.  Lysosomal  storage  disease  results  from  a  lack  of  conversion  (most  likely  in  the  endoplasmic  reticulum)  of  cysteine  into  formylglycine.  It  is  characterized  by  muscle  weakness  with  spasticity,  poor  swallowing,  recurrent  pulmonary  aspiration,  and  quadriplegia.  Blindness  and  seizures  due  to  hydrocephalus  develop,  eventually  leading  to  death  by  the  second  decade  of  life.  Aortic  insufficiency  and  cervical  cord  compression  have  been  reported.