TY - CHAP M1 - Book, Section TI - Juvenile Sulfatidosis Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas Y1 - 2019 N1 - T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e 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. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164074545 ER -