INTRODUCTION: We report a case of congenital cervicofacial lymphangioma in a teenage girl who presented with surgically responsive obstructive sleep apnea syndrome (OSAS) confirmed by polysomnography (PSG).
CASE PRESENTATION: A 17-year-old female presented with 6 months history of loud snoring and witnessed apnea associated with daytime hypersomnolence and progressive decline in academic performance. She had a history of extensive unilateral congenital cystic hygroma involving the left face and neck that was diagnosed at 1-year-old and received multiple surgical excisions for recurrences including superficial parotidectomy, left tonsillectomy, partial left hemiglossectomy and uvulectomy at age 6. There were no symptoms of exertional dyspnea, stridor and dysphagia. Physical examination revealed an obese girl (BMI 38 kg/m2) with significant facial asymmetry (House-Brackmann facial grading scale IV) and a large firm mass overlying her left cheek. Fiberoptic nasolaryngoscopy showed a protuberant left tonsillar pillar with extension inferiorly to the supraglottic region, aryepiglottic fold, left epiglottis and ventricle, and effacement of both the left true and false vocal cords. Computed tomography of the neck demonstrated an extensive soft tissue mass in the left neck extending inferiorly almost to the thoracic inlet with displacement and narrowing of the airway at the level of the oropharynx and supraglottis. An overnight PSG confirmed severe OSA. The patient subsequently underwent a left hemisupraglottectomy and resection of the cystic hygroma using CO2 laser. Postoperatively, her snoring resolved and her daytime alertness improved dramatically. A follow-up PSG 6 months later showed a normal overall apnea-hypopnea index consistent with a patent airway on nasolaryngoscopy. The resolution of her OSAS post-resection despite an unchanged BMI suggested that anatomical upper airway obstruction was the primary cause rather than obesity.
DISCUSSIONS: To our best knowledge, there has been only one case of polysomnographically-confirmed sleep apnea associated with cervicofacial lymphangioma in a 7-week-old infant described in the literature. Lymphangioma (cystic hygroma) is a rare congenital and developmental malformation with an incidence of 1.2 to 2.8/1000 in children. Approximately half of cystic hygromas are present at birth with most occurring in the head and neck region, potentially compromising breathing, swallowing and speech. Complete ablation is often unsuccessful and recurrence is exceedingly common especially in lesions affecting the oral cavity and upper airway. OSAS is common, often underdiagnosed and can lead to significant cardiovascular and neurocognitive morbidities in children if untreated, Children with a head and neck mass should be routinely screened for symptoms of OSAS, and if symptomatic, a PSG should be considered. Maximal surgical reduction of the lymphangioma while preserving nerve function and cosmesis remains the first choice treatment. Although continuous positive airway pressure (CPAP) is the standard therapy for OSAS in older patients, it would be challenging in cases such as ours due to the fixed nature of mass-related obstruction and mask-related air leaks secondary to abnormal facial contours. In addition, the long term effect of CPAP treatment on lymphatic drainage is unknown. Should surgery be hampered by technical issues, tracheotomy may be the last resort in cases with severe OSAS.
CONCLUSION: OSAS is a potential complication of cervicofacial lymphangioma and may precede daytime manifestations of airway compromise. High index of suspicion should be maintained for this condition in any pediatric patient presenting with head and neck pathology and treatment should be instituted promptly to prevent long term cognitive sequelae. Surgical resection may remain the treatment of choice given the potential challenges with initiation of CPAP therapy.
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