Case Studies Describe Medical Mysteries Solved by Saint Michael’s Pulmonologists

NEWARK, N. J. (January 25, 2010) –– Physicians at Saint Michael’s Medical Center solved the medical mystery of a 29-year-old woman whose increasingly severe wheezing failed to respond to any common asthma treatments.

The case study from the Department of Pulmonary Medicine at Saint Michael’s appears in this month’s Clinical Pulmonary Medicine, a medical journal.

“Everything else appeared normal in this healthy appearing young woman, except that she could not breathe. She failed to respond to any asthma therapy and had required multiple courses of steroids,” said Dr. Richard Miller, director of the hospital’s department of pulmonary medicine. When doctors at Saint Michael’s examined the woman she had been treated by a primary care physician for more than a year, but her wheezing and difficulty breathing only worsened.

Saint Michael’s doctors immediately noticed the woman had a condition known as stridor, which is loud wheezing while inhaling. Most asthmatics wheeze on the exhale. Stridor can signal a serious problem, such as tracheal obstruction due to masses, tumors, foreign bodies in the trachea, or narrowing of the trachea itself. Doctors immediately ordered a CT scan and other breathing studies. The images, included in the journal publication, showed the woman had a tumor obstructing 95 percent of her airway. The tumor was a Granular Cell Tumor of the Trachea, or GCT, and only a few cases have ever been reported. Doctors discuss the pathology and diagnosis of the tumor in the publication.

According to the Saint Michael’s report, most GCTs are found in women in their 30s or 40s. One report found 63 percent of these rare tumors are found in African Americans. The patient at Saint Michael’s Medical Center was an African American. The tumor was surgically removed.

Dr. Miller said GCTs rarely are malignant and the woman has a very good chance for full recovery.

“This woman could have asphyxiated,” Dr. Miller said. “It was only because she was young and otherwise healthy that she did not collapse.”

The publication in Clinical Pulmonary Medicine (Volume 17, Number 1, January, 2010) appears the same month as another case study by the Saint Michael’s team appears in the journal Lung. The publication, “Mounier-Kuhn Syndrome: A Case Study,” is published online. It examines the case of a 33-year-old white male with a history of asthma and bronchitis who came to the emergency room with fever and chills. A CT scan found a massively enlarged trachea and main stem bronchi – what the paper authors referred to as a “rare, but interesting, phenomenon.” The findings were consistent with Mounier-Kuhn Syndrome, a rare congenital malformation of the trachea. Treatment is limited to supportive care, such as physiotherapy to help clear lung secretions.

Dr. Miller said about 60 percent of patients with respiratory illness obtain treatment from primary care physicians.

“That’s fine if things go well,” Miller said. “But if patients do not respond well to therapy they absolutely should see a pulmonary specialist.”

Dr. Miller is available to speak about rare pulmonary disease as well as more common respiratory illnesses and topics.

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