Open AccessMultilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome
Author(s) -
Min Jin Jeon,
Min Jung Kim,
Ji Hye Kim,
Ji Soo Park,
Jisook Yim,
Myungshin Kim,
Seong Keun Kwon,
SoYoung Lee,
Jung Min Ko,
Jong Hee Chae,
Dong In Suh
Publication year - 2021
Publication title -
pediatric allergy, immunology, and pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.4
H-Index - 22
eISSN - 2151-3228
pISSN - 2151-321X
DOI - 10.1089/ped.2021.0029
Subject(s) - medicine , airway , stenosis , cystic fibrosis , tracheal stenosis , pediatrics , cardiology , surgery
Background: Myhre syndrome is a rare connective tissue disorder caused by heterozygous pathogenic variants in the SMAD4 gene. Although recognizing Myhre syndrome in early childhood is challenging, it is important to manage airway stenosis in patients with Myhre syndrome. Case Presentation: We report the case of a 2-month-old boy who initially presented with severe multilevel airway stenosis, dysmorphic face, and multiple abnormalities. Lung fibrosis and mild aortic valve stenosis were additionally observed on follow-up examinations. A heterozygous missense variant, c.1499T>C (p.Ile500Thr), in SMAD4 was identified through exome sequencing. Tracheostomy was performed, and the patient has maintained stable respiration through a customized tracheostomy tube with a home ventilator. Conclusions: Patients who have dysmorphic face, airway stenosis, and cardiovascular anomalies that do not fit the diagnosis of common syndromes should be evaluated for rare diseases, including Myhre syndrome. Since respiratory complications can be life threatening, early diagnosis and suitable intervention are necessary.