Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions.
OBJECTIVE
Myhre-LAPS syndrome is a recently recognized disease caused by a mutation in the SMAD4 gene. This results in a range of pathology including laryngotracheal stenosis, arthropathy, prognathism and short stature, or LAPS syndrome. We aim to delineate the role of intubation in development of airway stenosis in these patients as well as provide insight into diagnosis and management of this syndrome. Herein we present four patients with Myhre-LAPS syndrome complicated by airway stenosis and perform a systematic review of all cases of Myhre-LAPS syndrome with reported airway pathology.


METHODS
Retrospective review


METHODS
All patients diagnosed with Myhre-LAPS syndrome and airway stenosis at a single institution from 1981 to 2014 were reviewed.


RESULTS
Four patients (4F, median age 42) were identified that met inclusion criteria. Initial presenting signs included progressive shortness of breath, dyspnea on exertion and respiratory distress. All four (100%) patients had multi-level airway stenosis most commonly in the subglottic and glottic regions and all patients had undergone at least one endotracheal intubation prior to presentation. One patient with a history of nasal tracheal intubation presented with nasal obstruction and was found to have choanal as well as subglottic stenosis. Two of the four (50%) patients are tracheostomy tube dependent, 1/4 (25%) died of a fatal cardiac arrhythmia and 1/4 (25%) has had 6 endoscopic treatments for subglottic stenosis in 4 years with rapid symptom recurrence.


CONCLUSIONS
Myhre-LAPS syndrome is characterized by progressive systemic fibrosis and patients are diagnosed by characteristic findings of prognathism, short stature, abnormal facies, and thick skin among other abnormalities. Airway management is complicated by recurrent, refractory subglottic stenosis often preceded by elective intubation as well as maxillary hypoplasia, trismus, and limited neck extension. Endotracheal intubation and surgical intervention should be approached with caution in these patients and multidisciplinary care teams are necessary to address all manifestations of this syndrome.
Department of Otorhinolaryngology, Mayo Clinic School of Medicine, 200 First St SW, Rochester, MN. Electronic address: oldenburg.michael@mayo.edu.
Michael S
MS
Oldenburg
Department of Otorhinolaryngology, Mayo Clinic School of Medicine, 200 First St SW, Rochester, MN.
Christopher D
CD
Frisch
Department of Health Sciences Research, Mayo Clinic, 13400 E Shea Blvd, Scottsdale, AZ.
Noralane M
NM
Lindor
Department of Pulmonary Medicine, Mayo Clinic School of Medicine, 200 First St SW, Rochester, MN.
Eric S
ES
Edell
Department of Otorhinolaryngology, Mayo Clinic School of Medicine, 200 First St SW, Rochester, MN.
Jan L
JL
Kasperbauer
Department of Otorhinolaryngology, Mayo Clinic School of Medicine, 200 First St SW, Rochester, MN. Electronic address: obrien.erin@mayo.edu.
Erin K
EK
O'Brien
D000328:Adult; D000402:Airway Obstruction / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D003456:Cryptorchidism / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D019066:Facies; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing; D006130:Growth Disorders / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D007442:Intubation, Intratracheal / Q000009:adverse effects*; D007828:Laryngoscopy / Q000379:methods*; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D014139:Tracheostomy / Q000379:methods*