A Curious Presentation of a Supraglottic Lymphatic Malformation: A Case Report.

INTRODUCTION

Lymphatic malformations (LMs) are not uncommon findings in neonates, with an estimated incidence of 1 in 2000 live births. Most LMs involving the airway are grossly symptomatic and are diagnosed either prenatally or immediately after birth. In cases of airway LMs that are not diagnosed perinatally, the child often experiences significant symptoms beginning at birth. This case report describes a child presenting with stridor and snoring at the age of 17 months, a timeframe and clinical picture making LM a less likely diagnosis.

CASE DESCRIPTION: A 17-month-old female presented to the pediatric otolaryngology clinic after referral for stridor and snoring with concern for laryngomalacia. Stridor was first noted 6 to 12 months prior to evaluation and was associated with an uri. Her breathing was described as low-pitched biphasic stridor, worse upon inspiration, with biphasic noises both at rest and with activity. Awake flexible laryngoscopy was significant for supraglottic erythema and edema, thickened epiglottis and arytenoids, shortened AE folds, and arytenoid prolapse. Urgent formal airway evaluation with sleep endoscopy, and microlaryngoscopy with bronchoscopy demonstrated amorphous irregularity of the epiglottis extending into the base of tongue concerning for lm. MRI revealed a lesion at the base of tongue consistent with lm. Treatment with oral sirolimus was initiated, and the patient's symptoms significantly improved.

DISCUSSION: while most airway LMs are diagnosed perinatally, this case describes a later and more subtle presentation. This unique presentation suggests that clinical suspicion for LM should be considered in children with respiratory symptoms and prompt further diagnostic workup.