TY  - CHAP
M1  - Book, Section
TI  - Juvenile Sulfatidosis Syndrome
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Marciniak, Bruno
A1  - Dalens, Bernard J.
PY  - 2006
T2  - Syndromes: Rapid Recognition and Perioperative Implications
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.  
SN  - 
PB  - The McGraw-Hill Companies
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessanesthesiology.mhmedical.com/content.aspx?aid=58071989
ER  -