The Journal of Pediatrics
Volume 155, Issue 1 , Pages 144-144.e1, July 2009

Recurrent Unexplained Episodes of Facial Cyanosis and Shortness of Breath in Hunter Disease

Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland

Department of Pediatrics, Mendrisio and Bellinzona, University of Bern, Bern, Switzerland

Division of Metabolic Diseases, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland

Article Outline

 

A 12-year-old boy affected by Hunter disease (mucopolysaccaridosis type II) was referred with a history of recurrent episodes of cyanosis and shortness of breath. Physical examination disclosed the typical features of the condition, but was unremarkable for any cardiopulmonary abnormality. Careful clinical observation of the boy revealed that cyanosis was limited to his face and developed, with shortness of breath and venous cervical engorgement, within 30 seconds after elevating his arms (Figure).

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  • Figure. 

    In the 12-year-old boy with the typical features of Hunter syndrome, A, facial plethora B, together with venous cervical engorgement and shortness of breath appears within 30 seconds after elevating his arms and shoulders (positive Pemberton sign).

In 1946, H.S. Pemberton first described in a patient with a large retrosternal goiter that extension of both arms above the head was followed by facial plethora with distended neck veins and shortness of breath with stridor.1 The observation, which is now called positive Pemberton sign, reflects vascular and airway compromise developing when the thoracic inlet becomes obstructed by a large mass extending retrosternally. It is common in retrosternal goiter, but may also occur with lymphoma, thymoma, lung carcinoma, or aortic aneurysm.2, 3 In our patient a conventional chest radiography examination disclosed 2 enlarged clavicles, a recognized finding in Hunter disease, but without any mediastinal enlargement.

Typical airway concerns in Hunter disease include tongue enlargement, pharyngeal hypertrophy, supraglottic edema, and deformation of the trachea.4 This case indicates that in Hunter disease positional changes sometimes result in vascular and airway compromise. Thus, we propose to test the Pemberton sign in children with Hunter disease and in children with positional symptoms of the head and neck.

References available at www.jpeds.com

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References 

  1. Pemberton HS. Sign of submerged goitre. Lancet. 1946;251:509
  2. Wallace C, Siminoski K. The Pemberton sign. Ann Intern Med. 1996;125:568–569
  3. Basaria S, Salvatori R. Images in clinical medicine. Pemberton's sign. N Engl J Med. 2004;350:1338
  4. Steven Sims H, Kempiners JJ. Special airway concerns in patients with mucopolysaccharidoses. Respir Med. 2007;101:1779–1782

PII: S0022-3476(09)00024-9

doi:10.1016/j.jpeds.2009.01.037

The Journal of Pediatrics
Volume 155, Issue 1 , Pages 144-144.e1, July 2009

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