title: Tracheobronchial anomalies in a patient with Schimke immuno-osseous dysplasia (SIOD).
abstract: Schimke Immuno-osseous Dysplasia (SIOD) is a rare genetic disorder with multiple systemic manifestations. Pulmonary manifestations have been described but not well characterized. They are believed to be secondary to decreased elasticity, and include emphysema, pulmonary hypertension and bronchiectasis. We describe a 24-year-old female patient with SIOD with tracheobronchial anomalies not reported before, including tracheomalacia and a tracheal bronchus with Epstein-Barr virus (EBV) related leiomyoma causing endobronchial obstruction. Such anomalies, in addition to the difficult upper airway associated with SIOD present specific challenges during management. This case reports documents tracheobronchial abnormalities that have not been described before in SIOD.
authors.affiliation: Department of Medicine, King Faisal Hospital & Research Centre, Riyadh, Saudia Arabia.
authors.forename: Abdullah
authors.initials: A
authors.lastname: Mobeireek
authors.forename: Sarfraz
authors.initials: S
authors.lastname: Saleemi
authors.forename: Mohammad
authors.initials: M
authors.lastname: Khalid
authors.forename: Faiqa
authors.initials: F
authors.lastname: Imtiaz
authors.forename: Eid A
authors.initials: EA
authors.lastname: Almutairy
mesh_terms: D019943:Amino Acid Substitution; D001161:Arteriosclerosis / Q000175:diagnosis* / Q000235:genetics*; D001980:Bronchi / Q000002:abnormalities*; D020680:Bronchoscopes; D004265:DNA Helicases / Q000235:genetics; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D009404:Nephrotic Syndrome / Q000175:diagnosis* / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D000081207:Primary Immunodeficiency Diseases; D011655:Pulmonary Embolism / Q000175:diagnosis* / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed; D014132:Trachea / Q000002:abnormalities*; D055815:Young Adult
chemical_list: C412482:SMARCAL1 protein, human; D004265:DNA Helicases
keywords: Schimke Immuno-osseous Dysplasia; cartilage; leiomyoma; tracheal bronchus; tracheomalacia