TY - CHAP M1 - Book, Section TI - Maroteaux-Lamy Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - The three variants of Maroteaux-Lamy Syndrome (mucopolysaccharidosis [MPS] type VI) are severe, intermediate, and mild. The severe form of this condition is similar to the severe form of Hurler Syndrome, except for the preservation of intelligence in these patients. The clinical features include macrocephaly, coarse facial features, macroglossia, joint abnormalities, hearing loss, and short stature. Hepatosplenomegaly, cardiac anomalies, and restrictive pulmonary disease are commonly reported. The heart disease involves valvular dysfunctions. The airway can be compromised and difficult airway management during anesthesia must be expected. Corneal opacities are often present. Other features include numerous skeletal malformations such as stubby fingers, joint restrictions, claw hands, lumbar lordosis, and hip pain that occur after the age 3 or 4 years. As a matter of information, the administration of an enzyme replacement therapy has been successful in improving growth and joint movement. At a cost of $365,000 a year, Naglazyme is considered one of the world’s most expensive drugs! SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164077846 ER -