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(Chest. 2000;117:1196-1200.)
© 2000 American College of Chest Physicians

Bilateral Diaphragm Paralysis Secondary to Central von Recklinghausen’s Disease*

Paul M. Hassoun, MD and Bartolome R. Celli, MD, FCCP

* From the Pulmonary and Critical Care Division, Department of Medicine (Dr. Hassoun), New England Medical Center/Tufts University School of Medicine; and the Pulmonary and Critical Care Division (Dr. Celli), St. Elizabeth’s Medical Center, Boston, MA.

Correspondence to: Paul M. Hassoun, MD, Pulmonary and Critical Care Division, Department of Medicine, New England Medical Center, 750 Washington St, NEMC 257, Boston, MA 02111; e-mail: paul.hassoun{at}es.nemc.org

Bilateral paralysis of the diaphragm is either idiopathic or associated with several medical conditions, including trauma or thoracic surgery, viral infections, and neurologic congenital or degenerative disorders. We describe the case of a 36-year-old man with a history of neurofibromatosis who developed severe bilateral diaphragmatic paralysis from involvement of the phrenic nerve roots with neurofibromas. The patient manifested progressive exertional dyspnea and debilitating orthopnea requiring the use of noninvasive mechanical ventilation at night. A review of the literature reveals that neurofibromatosis is an unrecognized cause of diaphragmatic paralysis.

Key Words: diaphragm dysfunction • neurofibromatosis • phrenic nerve • respiratory failure






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