What did the boy’s echo reveal?

Solve a diagnostic puzzle: This is the case of a real patient treated at a Boston-area hospital

Gerdline and her baby Rolensky live in Arcahaie, a small town on the western coast of Haiti. She’s never taken any vitamins or gotten any significant medical advice. After Rolensky was born, he had no pediatrician. Regular health care isn’t the custom in Haiti.

When Rolensky turned about 4 months old, he stopped gaining weight. His breaths were laborious and he was unwilling to swallow. Gerdline left her town and brought Rolensky to the Hospital St. Nicolas, in the province of Arbonite, where a cadre of pediatricians, including some from the United States, were attending to sick kids from around Haiti. There, she met Chris Carpenter, a global health fellow and physician at Boston Children’s Hospital.

“He was very small for his age,” Carpenter remembered, describing Rolensky’s rapid breathing and blue skin. Rolensky was cachectic — his muscles were wasting away. “We were very worried by his condition,” Carpenter said.

Carpenter and his colleagues examined Rolensky. His oxygen saturation was critically low. Using donated oxygen concentrators, they started him on 100 percent 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,” Carpenter said.

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.

Ordinarily, echocardiography is not easily available in Haiti, but it’s a technology critical in diagnosing heart disease in infants.

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 Smith couldn’t find any heart abnormality. Instead, he saw a heart that was working too hard, as though something elsewhere 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. “I put the echo probe on Rolensky’s head,” Smith said — and there he found the key to the case.

The diagnosis:

Smith had placed the echo transducer on Rolensky’s fontanelle, an area of a baby’s head where the bones of the skull haven’t yet completely joined together, which enabled him to get a look at Rolensky’s brain. “There was a very large free space on the echo that lit up like a Christmas tree,” Smith said. Called a Vein of Galen malformation, it was a kind of abnormal dilation where lots of arteries converge, creating a pocket of blood before the veins drain it away.

“Because of the large amount of pooling blood, the malformation acted like a suction cup, pulling up blood from the heart,” Smith said. With so much blood lost to filling up this space, the heart has to work extra hard. Over time, this causes pulmonary hypertension and shortness of breath and, ultimately, poor feeding and malnutrition.

Sara Gonzalez, a pediatrician and global health fellow at the Hospital St. Nicolas, had heard of the Vein of Galen malformation, but did not regularly associate the rare condition with pulmonary hypertension. What she did know was that fixing Rolensky probably meant a very complicated surgical repair to the malformation, a solution that was unlikely to be found in Haiti.

So she reached out to a special group at Boston Children’s called the vascular anomalies team. “The team thought he was a good candidate for surgery and wanted him to come to Boston,” Gonzalez said.

When they reached Boston Children’s, Rolensky was taken into the hands of Dr. Darren Orbach, a calm, experienced interventional radiologist. “The Vein of Galen malformation can either be very simple or very complex, depending upon its architecture — his was more complex,” Orbach explained. The aim of the surgery was to close the “feeders,” arteries supplying blood to the malformation, using metal coils or a viscous glue, without harming the rest of the brain. This would allow blood to travel to the appropriate parts of the brain.

Rolensky was taken into the procedure room on May 4. “I closed the largest feeders on the right and left side,” Orbach said.

Afterward, the malformation closed down, barely filling with blood. Suddenly, vessels in Rolensky’s brain that had received only a trickle of blood blossomed on the CT scan.

“He made rapid progress in front of our eyes,” said Dr. Mary Mullen, a cardiologist who helped care for him in Boston. Rolensky’s weight is now almost normal for his age. His shortness of breath is gone.

Just a couple of weeks ago, Rolensky celebrated his first birthday. But there are thousands of children like Rolensky in Haiti who do not have the chance to experience his good outcome.

Gerdline recognizes the difficult reality she’ll face returning to in Haiti. She worries about Rolensky’s future there.

Chris Carpenter, however, is hopeful for Rolensky. “He’ll see Sara [Gonzalez] in outpatient clinic. And if he continues to have persistent pulmonary hypertension, we’ll bring him back,” he said. Carpenter is optimistic that relationships between American doctors, volunteers in Haiti, and Haitian doctors can help support medical care for Rolensky and other children like him, as long as medical systems in this country continue to make global health a priority.

Do you have your own medical mystery? Dr. Sushrut Jangi of Beth Israel Deaconess Medical Center can be reached at sushrut.jangi@gmail.com.