Type 2 Respiratory Insufficiency, Pulmonary Hypertension, and Obstructive Sleep Apnea Syndrome that Developed in Morquio Syndrome

Pinar Yildiz Gulhan, Aydanur Ekici, Mehmet Ekici, Dilay Cimen
2015 Eurasian Journal of Pulmonology  
Mucopolysaccharidosis type IVA (Morquio syndrome) is a multisystemic autosomal recessive transitive disease induced by an N-acetylgalactosamine 6 sulfatase (GALNS) gene defect, progressing with lysosomal stock failure. The accumulation of chondroitin 6 sulfate and keratin sulfate is observed in the tissues due to GALNS deficiency. We presented a case in which Morquio syndrome was successfully treated with noninvasive mechanical ventilation in accordance with the literature. The case had
more » ... he case had obstructive sleep apnea syndrome (OSAS) induced by an obstruction that emerged as a result of type 2 respiratory insufficiency resulting from throcal deformity, inspiratory muscle weakness, pulmonary hypertension, and the accumulation of diffuse mucopolysaccharide in the upper respiratory tract.
doi:10.5152/ejp.2014.85579 fatcat:zqg4z2xhmzcrpevl6tye75nqca