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Case Report
A. S. Evans
R. G. Nassif
K. W. Ah-See
Department of Ear Nose and Throat Surgery, Aberdeen Royal Infirmary, Aberdeen, Scotland
Correspondence to: A. S. Evans 87 Duthie Terrace, Aberdeen, AB10 7PS, UK Email: drase25@hotmail.com
Ehlers-Danlos syndrome (EDS) is a heritable group of disorders of connective tissue characterised by skin hyperlaxity, joint hypermobility and tissue fragility. We report on a 49-year-old man with EDS who presented with spontaneous swelling at the root of the right neck during coughing. The size and site of the lesion led to diagnostic uncertainty. Subsequent computerised tomography (CT) scanning during a Valsalva manoeuvre demonstrated a large apical lung hernia arising through the costovertebral fascia into the root of the neck. No previous reports have documented spontaneous apical lung herniation in patients with EDS. This case serves to remind all practitioners dealing with the head and neck to remember the apical lung as a potential source of pathology in the neck
Keywords: Ehlers-Danlos, case report, complications, lung, hernia Surgeon, 1 February 2005, 49-51
Ehlers-Danlos syndrome is a heritable group of disorders of connective tissue characterised by skin hyperlaxity, joint hyper-mobility and tissue fragility. Several sub-groups are described depending on the signs, symptoms and pattern of familial inheritance exhibited. The diverse spectrum of multisystem complications associated with this condition is well established and includes poor wound healing, spontaneous pneumothoraces, recurrent herniation, vascular fragility and spontaneous GI perforations.1,2 Whilst diaphragmatic, ventral and inguinal herniations have been reported, no previous reports have documented spontaneous apical lung herniation in patients with EDS.3,4
A 49-year-old male with EDS presented to Accident & Emergency having acutely developed a large, intermittent swelling at the root of the right neck. The patient had been recovering from an upper respiratory tract infection and the swelling developed suddenly during a bout of coughing.
When intrathoracic pressure was normal, no abnormality could be detected (Figure 1). On coughing, however, a 10cm x 10cm bulging mass became obvious at the root of the right neck (Figure 2). The swelling was not associated with pain or respiratory distress and there was no dysphonia or dysphagia. On examination, the mass was soft and non-tender and totally reducible at the base of the neck, although its origin was not clinically apparent. Attempted reduction with digital pressure to the base of the neck during coughing was unsuccessful although control could be achieved during a simple Valsalva manoeuvre. Flexible nasolaryngoscopy was unremarkable and plain radiography of the neck and upper chest during the Valsalva procedure was normal.
Figure 1: The root of the neck at rest.
Figure 2: The root of the neck on performing the Valsalva manoeuvre.
A computerised tomography scan of the neck and chest was performed. No abnormality was apparent initially. However, when the scan was repeated and the patient was asked to perform the Valsalva manoeuvre, the lesion became obvious. The clinical mass was demonstrated to be a large apical lung hernia, extending through the costovertebral fascia through the thoracic inlet into the root of the neck (Figures 3 and 4).
The patient was subsequently referred for assessment by the cardiothoracic surgeons and underwent repair of the defect using a bovine pericardium covered mesh via a right thoracotomy.
Figure 3: Coronal CT section through the root of the neck.
Figure 4: Sagittal CT section through the root of the neck.
Lung herniation is rarely encountered as a clinical entity. The majority of reported cases result from trauma.5 Although congenital lung hernias are recognised, they are usually associated with defects of the chest wall.6 The majority of pulmonary hernias arise through the intercostal spaces.7 Whilst clinically apparent apical lung herniation has been reported there has usually been a clear history of trauma or chronic lung disease.8,9 In these latter cases, the hernia was also found to be arising through a defect in the costovertebral fascia.
Small, clinically silent apical lung hernias are occasionally a coincidental finding during radiological studies presenting as air radiolucencies at the thoracic inlet.8,10 They may be only seen intermittently but may result in apparent tracheal deviation. The investigation of choice to evaluate these further is airway fluoroscopy or CT scanning performed during maximal inspiration as studies performed during midinspiration may not demonstrate any abnormality.10 In our case, the lesion was not apparent even at full inspiration and only on raising intra-thoracic pressure during the Valsalva manoeuvre did the hernia become radiologically obvious. There was no evidence of chronic obstructive airways disease and lung bullae in our patient.
Whilst spontaneous herniation at various other sites is well recognised in patients with the EDS, we could find no other reports in the literature of spontaneous apical lung herniation. In our case, we believe that the overlying skin and soft tissue laxity and weakness served to exacerbate the lesion which otherwise may have gone unnoticed. Laxity and weakness of the costovertebral apical fascia and the associated coughing was probably the basis for the development of this defect.
Whilst this case represents an unusual and extreme case of pulmonary pathology, it serves to remind those dealing with head and neck conditions not to overlook the apical lung as a possible cause of a clinical abnormality in the neck.
Copyright 9 December 2004
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