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Volume 15 No. 01
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Case Reports

An Unusual Case of Noisy Breathing in an Infant

Carmen Leon-Astudillo, MD1; Gi Soo Lee, MD, EdM2; Umakanth Katwa, MD1
1Division of Respiratory Diseases, Boston Children's Hospital, Boston, Massachusetts; 2Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts


Laryngomalacia is a common cause of chronic noisy breathing that can present as stridor in infants and neonates. Mild cases of laryngomalacia are usually followed clinically and managed conservatively. However, the evaluation and diagnosis could be challenging in some patients. We present a case of a 3-week-old male infant with persistent and worsening noisy breathing, snoring, and poor weight gain, prompting further evaluation. The patient had an initial diagnosis of laryngomalacia and obstructive sleep apnea with complete resolution of loud breathing with continuous positive airway pressure. A repeated evaluation of the upper airway for further investigation led to the diagnosis of a neck mass compressing the airway. We review the clinical presentation, management, and follow-up of this patient, as well as the literature of possible etiologies. In the case of our patient, timely diagnosis and treatment had significant prognostic implications.


Leon-Astudillo C, Lee GS, Katwa U. An unusual case of noisy breathing in an infant. J Clin Sleep Med. 2019;15(1):149–152.


Noisy breathing is common in newborns and infants. The general practitioner should be familiar with its common causes, assessment, and management. It often presents as stridor, an usually high-pitched sound, produced as the result of turbulent airflow from narrowed large, mostly extrathoracic airways, although it can originate from any level of the airway and can be present during inspiration, expiration, or both.1,2 A common cause of stridor is laryngomalacia, which is often managed conservatively. Occasionally, patients require further workup, subspecialist evaluation, and management. This was the case in our patient, in whom a large neck tumor was diagnosed and required urgent life-saving therapy.


A full-term male infant with a birth weight of 3.8 kg (60th percentile) was noted to have noisy breathing during the first week of life and had a clinical diagnosis of laryngomalacia by the pediatrician. Pregnancy was complicated by maternal gestational diabetes. APGAR scores were 9 at 1 and 5 minutes. The patient was born via Cesarean section due to failed induction. His parents reported that the patient required breaks during feeding due to congestion and noisy breathing, and his breathing became louder over the second and third weeks of life, particularly during sleep. Parents also noted intermittent subcostal retractions, cyanosis, and pauses in respiration.

The patient was seen for a weight check at 3 weeks of age in the pediatrician's office. His weight was 3.7 kg (approximately in the 20th percentile), his oxygen saturation (SpO2) was 80% in room air (sea level) for 15 seconds, accompanied by perioral cyanosis, which prompted transfer to the emergency department. There, vital signs were normal and SpO2 was 96% in room air. He did not have any dysmorphic features, such as retrognathia, or any palpable masses. Cardiopulmonary examination was normal at baseline, but the patient exhibited stridor, nasal flaring, grunting, and suprasternal and subcostal retractions during activity. He was subsequently admitted to the hospital for further evaluation.

Chest radiograph showed low lung volumes and crowded interstitium. Bedside flexible nasopharyngoscopy and laryngoscopy revealed patent nares and choanae, mild arytenoid edema, and normal glottis. No other masses or lesions were seen. A rigid direct laryngobronchoscopy under general anesthesia revealed normal true vocal folds and subglottis without any other abnormalities or laryngeal cleft. An infectious workup was negative. A modified barium swallow study showed aspiration of all consistencies; therefore, the patient was fed via nasogastric tube.

An overnight polysomnography revealed an obstructive apnea-hypopnea index (AHI) of 45 events/h (normal < 1 event/h), consistent with severe OSA, frequent moderate to severe oxygen desaturations with nadir of SpO2 78%, and obstructive hypoventilation (end-tidal CO2 60–78 Torr). Subsequently, continuous positive airway pressure (CPAP) of 8 cmH2O was initiated to control the patient's OSA. Due to the severity of OSA and persistent stridor, bedside flexible nasopharyngoscopy and laryngoscopy was repeated 5 days after the initial examination, revealing posterior pharyngeal wall asymmetry with fullness along the left side, suspicious for airway compression. Brain and neck magnetic resonance imaging (MRI) was performed with the infant intubated, which demonstrated a well-circumscribed, homogeneous, T1/T2 isointense mass (3.6 cm × 2.2 cm × 4.3 cm) abutting the prevertebral musculature with anterolateral displacement of the internal and external carotid arteries, as well as lateral displacement of the parapharyngeal space (Figure 1). A biopsy of the mass confirmed the diagnosis of a poorly differentiated neuroblastoma, non N-MYC amplified. He received chemotherapy with carboplatin and etoposide and was successfully extubated to CPAP two weeks after initiation of chemotherapy. Shortly thereafter, the patient was transitioned to room air and was allowed to feed by mouth when results of a follow-up modified barium study were normal. MRI performed a second time after two cycles of chemotherapy showed a smaller mass (1.7 cm × 1.7 cm × 1.2 cm) with marked decreased mass effect on the adjacent vessels and airways. A comparison of pre-therapy and post-therapy MRI is shown in Figure 2.

Initial head and neck MRI, fast spin-echo inversion-recovery sequence.

Circumscribed homogeneous mass (3.6 cm × 2.2 cm × 4.3 cm) displacing the internal and external carotid arteries and parapharyngeal space. (A) Coronal view. (B) Axial view.


Figure 1

Initial head and neck MRI, fast spin-echo inversion-recovery sequence.

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Comparison of prechemotherapy and postchemotherapy head and neck MRI, fast-spin-echo inversion recovery sequence, coronal views.

(A) At the time of diagnosis. (B) After two cycles of carboplatin and etoposide. (5 weeks later). Marked decreased mass effect on the adjacent vessels of the carotid sheath and the airway.


Figure 2

Comparison of prechemotherapy and postchemotherapy head and neck MRI, fast-spin-echo inversion recovery sequence, coronal views.

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Noisy Breathing

Noisy breathing is common in infants. Its incidence in the pediatric population is unknown. Thornton et al. found that 30% of mothers of infants younger than 6 months reported noisy breathing in a cohort of 298 infants. Upon further questioning, only 1% described the breathing as stridor. The other noises were airway snuffles (93%), wheezing (2%), and “chesty sounds” (3%).1,3 Therefore, taking an accurate history and performing a thorough physical examination are critical steps in the diagnosis of upper airway obstruction.


Stridor is often the most prominent sign of upper airway obstruction. It can be present during inspiration, expiration, or both, and it is usually high pitched. The phase of respiration in which stridor is heard usually correlates with a specific anatomic site and whether or not the site of obstruction is fixed or dynamic.2 Stertor is a low-pitched, mainly inspiratory sound that may be produced by obstructing lesions of the nasopharynx (adenoid hypertrophy), oropharynx (micrognathia, macro-glossia and tonsil hypertrophy), and hypopharynx (tongue base mass and pharyngomalacia).4

The history of a child with stridor should include: perinatal and obstetric history; characteristics of the stridor such as onset, diurnal variation, its relationship with feeding and body position, growth, suspicion of foreign body aspiration or ingestion, voice quality, symptoms of gastroesophageal reflux, feeding difficulties, nasopharyngeal reflux and poor sucking. During the examination, attention should be spent observing the child for positional stridor, retractions, cyanosis, and apneas, as well as dysmorphic or syndromic features, followed by a complete examination.1 The initial goal is to determine whether the severity of the stridor warrants immediate intervention.

Causes of stridor can be classified according to the site of the obstruction2,4 (Table 1).

Differential causes of pediatric stridor by anatomic location.2,4


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Table 1

Differential causes of pediatric stridor by anatomic location.2,4

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Stridor may also be classified as caused by congenital and acquired lesions.4 In 202 infants younger than 1 year, congenital anomalies were the cause in 170 infants (84%), with the most frequent being laryngomalacia (73%), tracheomalacia (3%), laryngeal stenosis (2%), and acquired lesions accounted for the remainder (1.5% infectious, 1% undetermined, 13.4% other). The most common cause of chronic stridor is laryngomalacia (45% to 75% of cases).4 Many have secondary diagnoses, including tracheomalacia, bronchomalacia, subglottic stenosis, infections, bronchial web, and vocal cord paralysis.5 Interestingly, 94 of these patients (46%) had a presumptive diagnosis made by a physician (mostly pediatricians and emergency medicine physicians) who was not an otolaryngologist, and of these, 28 (30%) were incorrect.5 Therefore, prompt referral for evaluation and management is recommended.

Cervicothoracic Lesions

Although there are no pediatric studies regarding sleep-disordered breathing in children with cervical masses, a study in adults showed that referred patients in whom head and neck tumors had already been diagnosed often have a diagnosis of OSA (88%), and many require tracheostomy for management of a distorted airway.6

Cervicothoracic lesions are classified as congenital, inflammatory, benign tumors, malignant tumors, and traumatic lesions.7


Congenital lymphangioma is the most common lesion, which develops from a congenital obstruction of lymphatic drainage; 75% occur in the neck, with cystic hygromas being the most common subtype.8 Hemangiomas are benign masses of endothelial cells and occur most commonly during the first year. Venous and arteriovenous malformations are rarely seen in the neck. These can be asymptomatic, or manifest as respiratory problems or dysphagia. Thymic abnormalities are secondary to defective pathways of embryologic descent of thymic primordia, cervical extension of thymus, and thymic cysts.8


Cervical or retropharyngeal abscesses and inflamed lymph-adenopathy are rare in infants.7

Benign Tumors

Lipomas are fairly uncommon during the first 2 decades of life. Lipoblastomas usually present before the age of 3 years and contain mature and immature fat cells. Neurofibromas and schwannomas occur in neurofibromatosis but also sporadically with malignant degeneration in 15% to 30% of cases.7

Malignant Tumors

Malignant tumors include lymphoma, thyroid carcinoma, rhabdomyosarcoma, and neurogenic tumors.9 Lymphoma could be non-Hodgkin and Hodgkin, affecting younger and older children respectively.8 It involves the cervical lymph node chain, Waldeyer tonsillar ring, and lymphoid tissue at the base of the tongue.7 Progressive OSA has been seen as the clinical presentation of lymphoma in a pediatric patient.10 Thyroid carcinoma is the most frequent endocrine tumor and represents 1% of all malignancies; however, it is rare in small children.7 Rhabdomyosarcoma is the most common soft-tissue sarcoma in the pediatric population, representing 50% to 70% of all childhood sarcomas.9 It is found within the head and neck in up to 40% of affected patients.8

Neurogenic tumors are common in children. In a study done by Brigger and Cunningham,9 neural malignancies comprised 30% of 10,838 neck masses (3,277) and neuroblastoma caused 44% of these (1,477). Neuroblastoma is the third most common pediatric malignancy and the most common extracranial solid malignancy in children younger than 5 years; 40% of cases are diagnosed in the first year of life.9 It arises from neural crest blasts in the adrenal gland or the sympathetic chain, and 10% to 15% are located in the posterior mediastinum. Origin in the neck (< 5%) is rare. Heterochromia iridis and ipsilateral Horner syndrome may be signs of thoracic apical or cervical mass. The prognosis is influenced by age, stage, and tumor N-myc amplification status. Surgical biopsy is necessary for the diagnosis and staging from a molecular genetics standpoint. In patients without N-myc amplification, complete tumor excision obviates adjuvant chemotherapy and near-complete resection with residual microscopic or even macroscopic disease may not adversely affect survival. Chemotherapy is generally indicated after incomplete resection of primary cervical neuroblastoma in patients with metastatic disease to the head and neck from other primary sites and in patients with resectable disease but positive N-myc amplification.9


In the case of our patient, given location and potential damage to surrounding structures, the decision was to proceed with multiagent chemotherapy. His prognosis remains excellent with estimated overall 3-year disease-free survival of 75% to 90%.9

This case illustrates the challenges of airway evaluation in neonates. Although congenital laryngomalacia is the most common cause of stridor in infants, other problems such as extrinsic airway compression caused by head and neck mass need to be evaluated if there is discrepancy between presentation and clinical findings. Laryngomalacia can sometimes present with reflux, feeding difficulties, and even mild cases of laryngomalacia can be associated with sleep disturbances. Our yetto-be-published data revealed that 5 of 12 patients (42%) with mild laryngomalacia diagnosed clinically had OSA on polysomnography and 2 of these patients had severe OSA requiring supraglottoplasty. Although OSA in our patient was controlled by CPAP, the severity of OSA demonstrated by polysomnography and the persistence of stridor were inconsistent with the normal initial examination, prompting us to repeat an endoscopic upper airway evaluation. This identified features consistent with possible extrinsic airway compression, ultimately leading to the diagnosis of a serious condition that required lifesaving therapy.


The authors report no conflicts of interest.



apnea-hypopnea index


continuous positive airway pressure


obstructive sleep apnea


oxygen saturation


Author contributions: Dr. Leon Astudillo evaluated the patient, researched the literature, wrote the initial manuscript, reviewed and revised the manuscript. Dr. Lee edited and reviewed the manuscript. Dr. Katwa evaluated, diagnosed and treated the patient, supervised, edited and reviewed the manuscript. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.



Boudewyns A, Claes J, Van de Heyning P. Clinical practice: an approach to stridor in infants and children. Eur J Pediatr. 2010;169(2):135–141. [PubMed]


Ida JB, Thompson DM. Pediatric stridor. Otolaryngol Clin North Am. 2014;47(5):795–819. [PubMed]


Thornton AJ, Morley CJ, Hewson PH, Cole TJ, Fowler MA, Tunnacliffe JM. Symptoms in 298 infants under 6 months old, seen at home. Arch Dis Child. 1990;65(3):280–285. [PubMed Central][PubMed]


Pfleger A, Eber E. Assessment and causes of stridor. Paediatric Respir Rev. 2016;18:64–72


Zoumalan R, Maddalozzo J, Holinger LD. Etiology of stridor in infants. Ann Otol Rhinol Laryngol. 2007;116(5):329–334. [PubMed]


Faiz SA, Balachandran D, Hessel AC, et al. Sleep-related breathing disorders in patients with tumors in the head and neck region. Oncologist. 2014;19(11):1200–1206. [PubMed Central][PubMed]


Castellote A, Vazquez E, Vera J, et al. Cervicothoracic lesions in infants and children. Radiographics. 1999;19(3):583–600. [PubMed]


Brown RE, Harave S. Diagnostic imaging of benign and malignant neck masses in children-a pictorial review. Quant Imaging Med Surg. 2016;6(5):591–604. [PubMed Central][PubMed]


Brigger MT, Cunningham MJ. Malignant cervical masses in children. Otolaryngol Clin North Am. 2015;48(1):59–77. [PubMed]


Toader C, Toader M, Stoica A, et al. Tonsillar lymphoma masquerading as obstructive sleep apnea - pediatric case report. Rom J Morphol Embryol. 2016;57 2 Suppl:885–891. [PubMed]