Description of two siblings with unexplained, progressive, perceptive hearing loss after head trauma.

Case report.

Two siblings aged six and eight years old with bilateral, intermittent but progressive hearing loss.

These patients had a c.1172G>A (p.Ser391Asn) mutation in the SLC26A4 gene, which has not previously been reported and which caused Pendred or enlarged vestibular aqueduct syndrome. The diagnosis was based on the perceptive hearing loss, computed tomography findings and mutation analysis. The patients were each fitted with a cochlear implant because of their severe, progressive, perceptive hearing loss with deep fluctuations. The results were good.

Further testing for the presence of an enlarged vestibular aqueduct is recommended when children present with sudden progression in perceptive hearing loss, whether or not in combination with head trauma. Cochlear implantation is indicated in patients with persistent, progressive hearing loss that leads to deafness. Implantation can be undertaken successfully despite cochlear hypoplasia.

We report an extremely rare presentation of concomitant tuberculous cervical lymphadenitis in a patient with carcinoma of the larynx.

A 66-year-old man presented with a nine-month history of hoarseness. He was found to have an exophytic lesion over the posterior half of the right vocal fold. He also had a palpable right jugulodigastric node. Biopsy of the vocal fold lesion revealed invasive squamous cell carcinoma. Histological analysis of an excision biopsy specimen from the lymph node was highly suggestive of tuberculosis. On further assessment of the slides, one acid-fast bacillus was seen. The patient was treated with radiotherapy to the larynx and concomitant anti-tuberculosis chemotherapy. Five months following treatment, there was no sign of laryngeal cancer recurrence; however, the patient continued to have a productive cough and night sweats.

To our knowledge, this is the first report of a laryngeal carcinoma with concurrent tuberculous cervical lymphadenitis. In the face of an unhelpful fine needle aspiration cytology examination, an assumption of metastatic neck disease could have been made. Subsequent surgical and/or oncological intervention would have been highly inappropriate, with potentially catastrophic effects. This case highlights the importance of proper diagnosis, and emphasises the fact that tuberculosis should always be borne in mind in the differential diagnosis.

We present an extremely rare case of severe intracranial hypertension secondary to sigmoid sinus compression by a group A streptococcal epidural abscess.

Case report and review of the world literature.

A five-year-old boy was treated for acute otitis media and group A streptococcal bacteraemia, but subsequently developed severe intracranial hypertension. Computed tomography revealed that, although the sigmoid sinuses were not thrombosed, the patient had a dominant right sigmoid sinus that was almost completely compressed by a small epidural abscess. After surgical decompression of the epidural abscess, with aggressive debridement of the granulation tissue from the sigmoid sinus wall, the patient awoke from general anaesthesia with complete resolution of his symptoms and signs of intracranial hypertension. He suffered no sequelae over the subsequent six months' follow up.

This is the first reported case of intracranial hypertension due to an epidural abscess causing sigmoid sinus compression without thrombosis. This case illustrates the fact that, even in the absence of thrombosis of the sigmoid sinus, a small epidural abscess may require urgent surgical treatment.

The prevalence of eosinophilic oesophagitis is increasing. A Pubmed search for ‘eosinophilic oesophagitis’ and ‘eosinophilic esophagitis’ yielded 345 publications since 1976. Only seven were in otolaryngology journals.1–7 Patients typically present with dysphagia, vomiting, dyspepsia or food impaction and are therefore usually referred to a paediatric gastroenterologist; otolaryngologists are not usually involved in management. A missed diagnosis may result in oesophageal stricture.

Two patients, aged two and four years, were referred to the paediatric otolaryngology department with intermittent upper oesophageal food impaction. A paediatric gastroenterologist was involved in the investigation. Histological examination of oesophageal biopsies demonstrated changes consistent with eosinophilic oesophagitis.

Both patients were expediently diagnosed, investigated and managed.

A diagnosis of eosinophilic oesophagitis must be considered in patients presenting with food bolus impaction. Early involvement of a paediatric gastroenterology team in the diagnosis is recommended in children presenting with oesophageal symptoms, in order to avoid delayed diagnosis.

Inverted papilloma is a rare but locally aggressive tumour with the potential for malignant transformation. Intracranial extension or complications secondary to inverted papilloma are extremely rare. We report a case of inverted papilloma with a large frontal sinus mucocele eroding the frontal sinus, which presented with sudden neurological compromise. A literature review on intracranial extension of such tumours is also included.

A Medline search of articles, using the terms ‘inverted papilloma’, ‘Ringertz tumour’, ‘intracranial extension’ and ‘complication’. Suitable references from the collected articles were also reviewed. Articles published in English were selected and reviewed.

A total of 10 cases was identified. Intracranial spread was more commonly seen in recurrent cases, especially if the recurrence involved the cribriform plate, fovea ethmoidalis or orbits. Cases with extradural disease seemed to have a better prognosis than those with intradural spread.

Intracranial involvement of inverted papilloma is extremely rare, and is usually seen in recurrent cases. This case report highlights an unusual but serious case of inverted papilloma presenting with acute neurological deterioration secondary to a large frontal sinus mucocele eroding the frontal sinus. A literature review on intracranial extension of inverted papilloma indicated that common sites of intracranial spread include the cribriform plate, fovea ethmoidalis and orbits. The prognosis for patients with such tumours depends on the type of dural involvement, with intradural extension carrying a poorer prognosis.

We report a case of Sweet's disease associated with rapid, profound loss of hearing, against a background of progressive, bilateral, sensorineural hearing loss.

The clinical features were indistinguishable from those of immune-mediated inner ear disease. Establishment of a definitive diagnosis was a challenge due to the absence of a reliable diagnostic test. The patient was unresponsive to extensive immunosuppressive therapy and subsequently underwent cochlear implantation, with good hearing outcomes.

Profound, bilateral, sensorineural hearing loss in the context of Sweet's disease may be related to the underlying immunological aetiology. Cochlear implantation can successfully restore hearing when immunotherapy fails.

We describe a case of endolymphatic sac tumour confined to the middle ear, which radiologically mimicked a glomus tympanicum, in a 58-year-old woman with tinnitus.

A 58-year-old woman presented with a one-year history of right-sided tinnitus. The clinical, radiological and surgical features were felt to be in keeping with a glomus tympanicum. However, the histopathological picture was that of a low grade papillary carcinoma of the endolymphatic sac, i.e. an endolymphatic sac tumour.

Endolymphatic sac tumours are classically locally aggressive and centred around the petrous temporal bone. Further growth results in complete replacement of the mastoid and petrous pyramid by tumour. To the best of our knowledge, there have been no previous reports of an endolymphatic sac tumour located solely within the hypo- and epitympanum of the middle ear.

We report the case of a man presenting with a tonsillar mass causing difficult breathing, snoring and disturbed sleep.

Case report.

The patient was found to have a fibroepithelial polyp of the left tonsil.

To our knowledge, this is the first case of its type to be presented in the English-language literature. The case is presented and the tumour and its management are discussed.