A mucopolysaccaridosis (fucosidosis) case with acute respiratory insufficiency and pneumonia [Akut solunum yetmezliʇi ve pnömoni tanisi ile takip edilen bir mukopolisakkaridoz (fukosidoz) vakasi]

Fucosidosis is a mucopolysaccaridosis which is a rare lysosomal storage disease. some of the reported features are mental and motor retardation and specific facial features. we present a fucosidosis case with an enlarged tongue and short neck who had been admitted with respiratory distress and both upper and lower respiratory tract infection. on admission,the patient needed mechanical ventilation due to acute respiratory insufficiency. as we were not able to place the laryngeal mask airway (lma) she had to be intubated with a small intubation tube. after the improvement of her pneumonia,it still was not possible to extubate her and a tracheostomia had to he done. during her follow up she developed bradicadia and died. as a result of increased life expectancy in patients with mucopolysaccaridosis clinicians face with the problem of air way obstruction and pneumonia with an increasing frequency in these patients. due to specific physical features maintaining the competency of air way is challenging in these patients and there are some difficulties in intubation. we believe that sharing experience regarding the management of respiratory problems in these patients with this rare clinical condition is important.