Pulmonary Manifestations of Systemic Disease: Student/Resident Case Report Poster - Pulmonary Manifestations of Systemic Disease II |

Life-Threatening Multi-Level Airway Stenosis Due to Myhre Syndrome: A Case Report FREE TO VIEW

Daniel Alape, MD; Erik Folch, MD; Sebastian Fernandez-Bussy, MD; Alejandro Folch, MD; Adnan Majid, MD
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Division of Thoracic Surgery and Interventional Pulmonology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA

Copyright 2016, American College of Chest Physicians. All Rights Reserved.

Chest. 2016;150(4_S):1099A. doi:10.1016/j.chest.2016.08.1206
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SESSION TITLE: Student/Resident Case Report Poster - Pulmonary Manifestations of Systemic Disease II

SESSION TYPE: Student/Resident Case Report Poster

PRESENTED ON: Tuesday, October 25, 2016 at 01:30 PM - 02:30 PM

INTRODUCTION: Myhre syndrome (MS) is characterized by cognitive disability, constrictive pericarditis, laryngotracheal stenosis, prognathism, tapered fingers, joint tenderness and short stature.1 MS has been related with SMAD4 gene mutations. This gene encodes for the SMAD4 protein that is the central node in the TFGβ-/BMP pathway. In fibroblasts, this alteration results in matrix metalloproteinase overexpression and impaired matrix deposition leading to abnormal scarring.2

CASE PRESENTATION: A 25-years-old male with past medical history of recurrent pericardial effusion, limited joint mobility, cognitive deficiency and recurrent airway infections originally evaluated for progressive dyspnea. He underwent bronchoscopy and was diagnosed with multi-level airway stenosis compromising the right nasal, subglottic region, trachea and left main bronchus. The patient was treated with repeated balloon dilations and intra-lesional steroid injections every 2 months. One year later presenting to the emergency department with progressive dypsnea. The physical examination was remarkable for right nasal stenosis, cervical stridor and desaturation requiring non-invasive ventilation. The CT scan showed complete collapse of the left lung and stenosis of the left main bronchus(100%), trachea(75%), and bronchus intermedius(35%). After admission he developed respiratory arrest requiring intubation (ETT #6) under bronchoscopic guidance with a 4mm pediatric scope after several failed attempts at direct laryngoscopy. Then, the patient was admitted to ICU requiring tracheostomy, antibiotics and pulses of steroids. The airway tissue biopsy revealed patchy chronic inflammation, mucosal fibrosis with granulation tissue, hemosiderin deposition and scattered eosinophils. Twenty days later the patients was discharged on oral steroids. A genetic consultation showed mutation in the SMAD4 gene suggesting MS. Losartan and Etanercept were added to the treatment with successful tapering of prednisone. Since then the patient has undergone stent placement, balloon dilation and intraluminal steroids. No further episodes of acute respiratory failure have occurred.

DISCUSSION: MS carries life-threatening complications. Airway stenosis is reported 15% and respiratory failure in nearly 25% of the patients; being one of the more common causes of the death in this population.1 However, since Myrhe syndrome is an extremely rare disease there is not a standardized protocol.3

CONCLUSIONS: Surgery and invasive procedure should be minimized since a mutation in the SMAD4 has been related with abnormal fibro-proliferative response and extracellular matrix dysregulation. Currently losartan shows promise as an inhibitor of TGF-β.2

Reference #1: Michot C et al. Myhre And LAPS Syndromes: Clinical And Molecular Review Of 32 Patients Eur J Hum Genet (2014)22, 1272-77

Reference #2: Piccolo P et al. SMAD4 Mutations Causing Myhre Syndrome Result In Disorganization Of Extracellular Matrix Improved By Losartan. Eur J Hum Genet (2014)22, 988-94

DISCLOSURE: The following authors have nothing to disclose: Daniel Alape, Erik Folch, Sebastian Fernandez-Bussy, Alejandro Folch, Adnan Majid

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