Abstrakt
Hunter syndrome (mucopolysaccharidosis type II (MPS II), OMIM 309 900) is an X-linked recessive lysosomal storage disorder. The syndrome with an incidence of 1: 140,000 is characterized by the deficiency of iduronate-2-sulfatase (IDS, EC 3.1.6.13), which catalyzes the breakdown of glycosaminoglycans (GAGs), especially dermatan and heparan sulfate.
The manifestation of this disorder manifests itself multisystemically in the sense of coarser facial features, hepato- and splenomegaly, bone changes, short stature and joint contractures, inguinal or umbilical hernias, recurrent otitis media and occasionally also a cognitive impairment ([Fig. 1]) [Wraith et al. Genet Med 2008; 10: 508-516].
Severe airway obstruction is one of the typical manifestations of MPS II as the disease progresses. This manifests itself primarily in the area of the upper and later in the lower airways in the sense of a tracheomalacia.
This airway obstruction can lead to fatal complications in the context of acute or planned surgical interventions, in the sense of asphyxia with fatal outcome [Muhlebach et al. Pediatr Pulmonol 2013; 48: 601-607].
Airway management is usually very challenging with excessive storage of the GAGs in the mucosa and soft cervical parts due to adenotonsillary hypertrophy, tongue enlargement, hypertrophic tongue base, pharynx and vocal cords. In addition, tracheo- and bronchomalacia can lead to complete airway collapse.
To date, only 3 cases of stent implantation in patients with MPS II have been published [Kampmann et al. JIMD Rep 2017; 33: 33-39; Davitt et al.
Eur Radiol 2002; 12: 458-462; Karl et al. Int J Pediatr Otorhinolaryngol 2016; 83: 187-192].
In all those patients, stent implantation led to an immediate improvement in breathlessness. Artificial ventilation was gradually stopped in patients with ventilation needs [Kampmann et al.
JIMD Rep 2017; 33: 33-39; Karl et al. Int J Pediatr Otorhinolaryngol 2016; 83: 187-192].
Numerous bronchoscopies with re-stenting and balloon dilation were necessary due to the clear granulation tissue in 2 patients [Davitt et al. Eur Radiol 2002; 12: 458-462; Karl et al.
Int J Pediatr Otorhinolaryngol 2016; 83: 187-192]. We report a 19-year-old patient in whom an implantation of a tracheal stent has improved the quality of life and made home ventilation possible.