RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Marciniak, Bruno
A1 Dalens, Bernard J.
SR Print(0)
ID 58071989
T1 Juvenile Sulfatidosis Syndrome
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=58071989
RD 2024/04/20
AB Very  rare  inborn  error  of  metabolism  combining  the  characteristics  of  metachromatic  leukodystrophy  and  mucopolysaccharidosis.  Lysosomal  storage  disease  resulting  from  a  lack  of  conversion  (most  likely  in  the  endoplasmic  reticulum)  of  cysteine  into  formylglycine.  Muscle  weakness  with  spasticity,  poor  swallowing,  recurrent  pulmonary  aspiration,  and  quadriplegia.  Blindness  and  seizures  (hydrocephalus)  develop,  eventually  leading  to  death  by  the  second  decade  of  life.  Aortic  insufficiency  and  cervical  cord  compression  have  been  reported.