Pulmonary Function in Morquio's Disease: A Study of Two Siblings

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

“…This proved that the hypoxemia was caused by the respiratory muscles not being used. In these cases, hypoxemia may result from right-left shunts due to microatelectasis caused by chest wall restriction (7). Thorax CT revealed atelectasis in both lungs, and this situation made us think that it might be one of the causes of the hypoxemia.…”

Radiographic and Clinical Features in Morquio's Syndrome

“…Prenatal diagnosis is feasible by amniocentesis. Clinical findings present in early childhood, typically between age 1 and 3 years, and life expectancy is normally < 30 years but isolated cases of long survival have been documented [6][7][8]. The diagnosis is finally made by lab investigations with verification of keratan sulfate in the urine and galactosamine-6-sulfatase in the leukocytes and fibroblasts [9,10].…”

Upper airways abnormalities and tracheal problems in Morquio's disease

“…[4][5][6] The cases presented here illustrate that, as life expectancy increases, these patients are likely to develop type 2 respiratory failure caused by the abnormalities of their thoracic cage.…”

“…Life expectancy is normally less than 30 years but isolated cases of long survival have been documented. [4][5][6] The respiratory problems in Morquio's disease can consist of a restrictive defect due to thoracic cage deformity, 6 7 upper airway obstruction during head flexion, 5 or both. There have been isolated reports of sleep disordered breathing.…”