This paper discusses three cases of tracheal agenesis that presented within a six-week period to the Norfolk and Norwich University Hospital. By reviewing the available literature on tracheal agenesis, the report aims to outline a protocol for future prenatal and postnatal management.

A case series and a literature review.

Three cases of tracheal agenesis presented in the classical manner, with respiratory distress and unsuccessful intubation following delivery. A literature review confirmed that prenatal diagnosis requires future innovation; survival is rare and is predominately reliant on intubation of the oesophagus when a patent tracheoesophageal fistula is present. In most cases, tracheal agenesis represents part of the ‘VATER’ association: vertebral defects, anal atresia, tracheoesophageal fistula with oesophageal atresia, and radial or renal dysplasia. Complex, multiple-stage surgical procedures have been described; however, no survival to adolescence is documented.

There is a call for improved prenatal diagnosis to allow both adequate counselling of parents and preparation for multi-specialty management at delivery. In addition, these cases highlight the ongoing need for improved congenital anomaly data within the UK, with currently only 49 per cent of England's births being registered.

• Cross-sectional imaging is required in all cases to complete assessment and staging. (R)

• Magnetic resonance imaging is recommended for primary site and computed tomography scan for neck and chest. (R)

• Positron emission tomography combined with computed tomography scanning is recommended for the assessment of response after chemoradiotherapy, and has a role in assessing recurrence. (R)

• Examination under anaesthetic is strongly recommended, but not mandatory. (R)

• Histological diagnosis is mandatory in most cases, especially for patients receiving treatment with curative intent. (R)

• Oropharyngeal carcinoma histopathology reports should be prepared according to The Royal College of Pathologists Guidelines. (G)

• Human papilloma virus (HPV) testing should be carried out for all oropharyngeal squamous cell carcinomas as recommended in The Royal College of Pathologists Guidelines. (R)

• Human papilloma virus testing for oropharyngeal cancer should be performed within a diagnostic service where the laboratory procedures and reporting standards are quality assured. (G)

• Treatment options for T1–T2 N0 oropharyngeal squamous cell carcinoma include radical radiotherapy or transoral surgery and neck dissection (with post-operative (chemo)radiotherapy if there are adverse pathological features on histological examination). (R)

• Transoral surgery is preferable to open techniques and is associated with good functional outcomes in retrospective series. (R)

• If treated surgically, neck dissection should include levels II–IV and possibly level I. Level IIb can be omitted if there is no disease in level IIa. (R)

• If treated with radiotherapy, levels II–IV should be included, and possibly level Ib in selected cases. (R)

• Altering the modalities of treatment according to HPV status is currently controversial and should be undertaken only in clinical trials. (R)

• Where possible, patients should be offered the opportunity to enrol in clinical trials in the field. (G)

Superficial siderosis is a rare disease that results from chronic bleeding in the subarachnoid space. Haemosiderin deposits throughout the subpial layers of the brain and spinal cord lead to progressive sensorineural hearing loss, which is seen in 95 per cent of patients with superficial siderosis. The impact of cochlear implantation on the quality of life of superficial siderosis patients is under debate.

A 38-year-old male with superficial siderosis presented with bilateral progressive sensorineural hearing loss. The patient underwent cochlear implantation and his quality of life was improved as evaluated by the Abbreviated Profile of Hearing Aid Benefit inventory.

The remarkable improvement in Abbreviated Profile of Hearing Aid Benefit scores shown in this study indicates that cochlear implantation leads to a better quality of life in superficial siderosis patients.

• Patients with nasopharyngeal carcinoma (NPC) should be assessed with rigid and fibre-optic nasendoscopy. (R)

• Nasopharyngeal biopsies should be preferably carried out endoscopically. (R)

• Multislice computed tomographic (CT) scan of head, neck and chest should be carried out in all patients and magnetic resonance imaging (MRI) where appropriate to optimise staging. (R)

• Radiotherapy (RT) is the mainstay for the radical treatment for NPC. (R)

• Concurrent chemoradiotherapy offers significant improvement in overall survival in stage III and IV diseases. (R)

• Surgery should only be used to obtain tissue for diagnosis and to deal with otitis media with effusion. (R)

• Radiation therapy is the treatment of choice for stage I and II disease. (R)

• Intensity modulated radiation therapy techniques should be employed. (R)

• Concurrent chemotherapy with radiation therapy is the treatment of choice for stage III and IV disease. (R)

• Patients with NPC should be followed-up and assessed with rigid and/or fibre-optic nasendoscopy. (G)

• Positron emission tomography–computed tomography (PET–CT), CT or MRI scan should be carried out at three months from completion of treatment to assess response. (R)

• Multislice CT scan of head, neck and chest should be carried out in all patients and MRI scan whenever possible and specially in advanced cases with suspected recurrence. (R)

• Surgery in form of nasopharyngectomy should be considered as a first line treatment of residual or recurrent disease at the primary site. (R)

• Neck dissection remains the treatment of choice for residual or metastatic neck disease whenever possible. (R)

• Re-irradiation should be considered as a second line of treatment in recurrent disease. (R)

Inflammatory pseudotumours of the head and neck are rare. A connection has been made between inflammatory pseudotumours and human immunodeficiency virus positivity.

This paper reports a case of an inflammatory pseudotumour presenting with a lesion in the left tonsil and left cervical lymph node in a 49-year-old human immunodeficiency virus positive patient. A histological diagnosis was obtained after biopsy and serial radiological imaging.

Diagnostic uncertainties can lead to unnecessary surgery. It is important to recognise the clinical, radiological and histological indicators of an inflammatory pseudotumour to enable a timely diagnosis and arrange appropriate treatment. In patients with co-morbidities causing immunocompromise, the potential diagnosis of an inflammatory pseudotumour should be considered. This is especially the case in human immunodeficiency virus patients, as inflammatory pseudotumours have been associated with immune reconstitution inflammatory syndrome, which can manifest up to several years after the initiation of, or change in, antiretroviral therapies.

• Cross-sectional imaging with computed tomography of the head, neck and chest is necessary for all patients; magnetic resonance imaging of the primary site is useful particularly in advanced disease; and computed tomography and positron emission tomography to look for distant disease. (R)

• Careful evaluation of the upper and lower extents of the disease is necessary, which may require contrast swallow or computed tomography and positron emission tomography imaging. (R)

• Formal rigid endoscopic assessment under general anaesthetic should be performed. (R)

• Nutritional status should be proactively managed. (R)

• Full and unbiased discussion of treatment options should take place to allow informed patient choice. (G)

• Early stage disease can be treated equally effectively with surgery or radiotherapy. (R)

• Endoscopic resection can be considered for early well localised lesions. (R)

• Bulky advanced tumours require circumferential or non-circumferential resection with wide margins to account for submucosal spread. (R)

• Offer primary surgical treatment in the setting of a compromised larynx or significant dysphagia. (R)

• Midline lesions require bilateral neck dissections. (R)

• Consider management of silent nodal areas usually not addressed for other primary sites. (G)

• Reconstruction needs to be individualised to the patients’ needs and based on the experience of the unit with different reconstructive techniques. (G)

• Consider tumour bulk reduction with induction chemotherapy prior to definitive radiotherapy. (R)

• Consider intensity modulated radiation therapy where possible to limit the consequences of wide field irradiation to a large volume. (R)

• Use concomitant chemotherapy in patients who are fit enough and consider epidermal growth factor receptor blockers for those who are less fit. (R)