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Posted by Dr. Sushrut Jangi June 11, 2013 10:05 AM
This is the case of a real patient. After reading the description of the case, I invite you to guess the patient's diagnosis in the comments section below. The answer will be posted Friday.
Only 21 years old, this is Gerdline's first trip to the United States. We are sitting by the Au Bon Pain in Boston Children's Hospital, the crowded atrium awash with activity. She holds her baby Rolensky in her arms. Gentle in her movements, her son's bright eyes open wide when she strokes his cheek. She's quietly agreed to an interview about the events of the past year.
Nadege August, a social worker for Partners In Health, sits with us, interpreting Gerdline's words for me. Gerdline is shy and barely makes eye contact, her gaze drifting around the spacious lobby as though she is still surprised by the circumstances that have brought her into such a large hospital in an American city. Nearby, doctors, residents, and families move in and out of the revolving doors and busy traffic clutters up Longwood Avenue. It's a very different scene than what Gerdline is accustomed to back at home.
Gerdline and Rolensky live in Arcahaie, a small town on the Western Coast of Haiti. Her brick house has four rooms and is crowded with twelve relatives. Despite the company, she's had little help raising Rolensky. Several times a day, she waits in line at the public pump to bring back water. The same river that gave her cholera two years earlier is the only source of water she has, and even then, the pump frequently runs dry. Although she's nursed him, she's never taken any vitamins or gotten any significant medical advice. After Rolensky was born, he had no pediatrician. Regular healthcare just isn't the custom in Haiti. "Most people don't trust the medical system there," says the interpreter Nadege, who was also born in the island country.
But when Rolensky turned about four months old, Gerdline saw that something was wrong: he had stopped gaining weight. His breaths were laborious and heavy to the point that he was unwilling to swallow. Gerdline left her town and brought Rolensky to the Hospital St. Nicolas, in the province of Artibonite, where a cadre of pediatricians, including some from the United States, were busy attending to sick kids from around Haiti. There, she met Chris Carpenter.
"I'm a global health fellow," Carpenter says. He's modest - at his young age, he has already set up an intensive care unit in the Congo and done work in the Dominican Republic, Guatemala, and Cameroon, and is a physician at Boston Children's Hospital. He was on a medical trip to the pediatric ward at Hospital St. Nicolas in September when Gerdline arrived with Rolensky. "He was very small for his age," Carpenter remembers, describing Rolensky's rapid breathing and blue skin that comes with poor oxygenation. Rolensky was cachectic - his muscles were wasting away. Gerdline and Rolensky were directed into a crowded hallway that was being used as a makeshift intensive care unit. "We were very worried by his condition," Carpenter recalls.
Gerdline wasn't just worried - she was terrified. Around her, the hospital had reached almost double its capacity - babies and young children awaited the attention of doctors, some crowded together on single beds in various stages of distress. Gerdline took a seat on a metal chair, her eyes fastened on Rolensky. At night, she lay on the floor beside his bed, barely able to sleep. "Kids were dying every night," Nadege interprets for me. "I never saw her leave the hospital," Carpenter says. "She was next to him every moment."
Carpenter and his colleagues carefully examined Rolensky. His oxygen saturation was critically low. Using donated oxygen concentrators, they started him on 100% oxygen. Carpenter suspected he had pulmonary hypertension, a kind of high blood pressure that can occur in the vessels between the heart and the lungs. To help treat this, they crushed pills of sildenafil - the generic name for Viagra - which also ameliorates pulmonary hypertension. But Rolensky did not improve much. "He didn't have the energy to cry, or sit. He was nursing, but his weight remained low." They were not able to take the oxygen off - the moment they did, his saturations fell. The team was at a loss as to why Rolensky had pulmonary hypertension. Figuring out the cause would help dictate his treatment. They decided to send Rolensky to a clinic in Cange, where Dr. Frank Smith, a cardiologist from New York, was visiting for a few days to perform echocardiography, a study that images the heart.
"It was a very busy, hot, and crowded day," Dr. Smith says, describing when Rolensky visited the clinic in Cange. "We were seeing twenty children a day, all of whom needed echoes." Ordinarily, echocardiography is not easily available in Haiti, but it's a technology critical in diagnosing heart disease in infants, many of whom suffer from rheumatic heart disease. "He was very malnourished. When I examined him, I was looking to figure out why he had pulmonary hypertension."
Pulmonary hypertension is rare in a young infant. When it occurs, the babies usually have a valve defect or another structural problem in the heart. But Dr. Smith couldn't find any heart abnormality to explain the pulmonary hypertension. Instead, he saw a heart that was working too hard, as though something elsewhere in his body was making his heart pump more than it should. Such heart overactivity can result in pulmonary hypertension. But why was Rolensky's heart overactive?
Sometimes, the key to a diagnosis falls into a medical practioner's mind the way a missing line finally comes to a poet. The process is beyond algorithm or logic but is instead founded on the valuable instinct that grows from the roots of prior cases, moments in a lecture hall, sentences glimpsed in otherwise long-forgotten textbooks. "I put the echo probe on Rolensky's head," Dr Smith says - and there he found the key to the case. Nearly four months after Gerdline had brought Rolensky to medical attention, the puzzle had been solved.
Can you figure out Rolensky's diagnosis?
Picture 1 (Gerdline and Rolensky) - Katherine C. Cohen, Boston Children’s Hospital
Picture 2 (Hospital St Nicolas, Haiti) - Frankie Lucien, Partners In Health
Picture 3 (Rolensky) - Anne Beckett, Partners In Health
The author is solely responsible for the content.
About the authorSushrut Jangi is an internist at Beth Israel Deaconess Medical Center and an editorial fellow at The New England Journal of Medicine. More »
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