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Case of delayed presentation of Pendred syndrome with a large goitre causing a life-threatening airway obstruction
  1. Toru Sasaki,
  2. Ryutaro Onaga and
  3. Ryota Koshu
  1. Department of Otolaryngology - Head and Neck Surgery, Jichi Medical University, Shimotsuke-shi, Tochigi-ken, Japan
  1. Correspondence to Dr Toru Sasaki; torusasaki{at}

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A woman in her 70s with a history of severe bilateral hearing loss since childhood and impaired language acquisition was brought to the emergency room with acute progressive dyspnoea. Her intelligence was not impaired. She arrived in a state of cardiopulmonary arrest, with her frontal neck markedly swollen. Resuscitation including intubation was performed successfully to restore spontaneous circulation and respiration. A CT scan of the thyroid was performed, which showed a bilobar large thyroid hypertrophy measuring 122×124×78 mm (figure 1). Thyroid function tests revealed a euthyroid with the levels of thyroid stimulating hormone (TSH)=1.89 µIU/mL, free T3=2.06 pg/mL and free T4=0.91 ng/dL. Total thyroidectomy and permanent tracheostomy were performed 13 days after admission to maintain a patent airway. A CT scan of the temporal bone disclosed bilateral highly dilated vestibular aqueducts (figure 2). These clinical findings were consistent with Pendred syndrome.1 Consent for genetic diagnosis was not obtained.

Figure 1

A large goitre that was compromising the airway.

Figure 2

Bilaterally enlarged vestibular aqueducts.

Although there are several reports of large goitre causing airway obstruction,2–5 the onset was more sudden and severe in this case. To our knowledge, this is the first reported case of Pendred syndrome causing airway obstruction. Goitres usually grow gradually; thus, it does not aggravate to cause a cardiopulmonary arrest. The patient’s speech was impeded due to the obstruction, and the limited verbal ability hindered her from expressing the deteriorating condition, thus rendering the sudden and severe onset.

The diagnosis of Pendred syndrome was given postsurgery, even though her goitre had been present for more than 30 years and she had been deaf since her childhood. Her hearing loss had never been properly evaluated. The reasons may include the unavailability of newborn hearing screening during her childhood, which commenced in our country in 2001, and the possible lack of parental support or care for her hearing loss. Though she lived with her younger sister and brother-in-law, the large goitre was not noticed by her family because they assumed that she only had a bulky neck due to obesity. Clinicians are encouraged to include Pendred syndrome in the differential diagnoses for children with severe hearing loss as they may develop goitre in the future. At present, a diagnostic tool for detecting mutations in the SLC26A4 gene, which is responsible for Pendred syndrome, is available.6 It is worth screening selected children with hearing loss using these genetic tests. Hearing loss can cause detrimental effects on speech, language, and developmental, educational, and cognitive outcomes in children without hearing rehabilitation.7 When the hearing loss is profound, a cochlear implant should be considered, the surgical indication of which has expanded worldwide.8 For an infant diagnosed with Pendred syndrome, we suggest that cochlear implant surgery be considered, which may possibly prevent eventual choking in the future.

Patient’s perspective

Because the patient was unable to speak or write, we could not obtain patient’s perspective.

Learning points

  • A large goitre may cause airway obstruction.

  • In a Pendred syndrome case due to the hearing loss and enlarged goitre, limited communication results in inability to express dyspnoea, which may lead to a seemingly sudden airway obstruction.

  • We propose to include Pendred syndrome in the differential diagnoses for infants with profound hearing loss and to consider cochlear implant surgery, which will help improve communication, thus avoiding severe complications in the future.

Ethics statements

Patient consent for publication


We would like to thank Editage [] for editing and reviewing this manuscript for English language.



  • Contributors TS made a major contribution to manuscript preparation. RO was in charge of the surgery and patient’s care, and collected data. RK was directly involved in the treatment of the patient and collected data. All authors have read and approved the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.