Mysterious Arterial Calcifications and One of the World’s Most Unique Patients

An infant is born with no complications in a hospital in Los Angeles. Within days, that same baby will suddenly have mysterious arterial calcifications, making him one of the most unique patients in the world.After being released from the hospital following the birth, within five days, the infant’s parents discovered the child breathing quickly, sweating and unable to eat. The child is brought back to the hospital and quickly transferred to UCLA for specialized care. The situation quickly turns critical as the infant's heart begins to fail. His symptoms are also consistent with hypertension. The patient is immediately given traditional treatment for high blood pressure and placed on a ventilator, which stabilizes his condition while more tests are done. X-rays come back showing an enlarged heart and signs of pulmonary edema. An echocardiogram then reveals that the child does not have a congenital heart abnormality — the most common cause of congestive heart failure. Period. But the ultrasound reveals another clue. The infant has significant arterial acidifications in the arteries, in his chest, and also in his abdomen. It’s so thick that it’s restricting blood flow to the child’s heart. Dr. Isidro Salusky, a Professor of Pediatrics who specializes in bone and mineral metabolism at the David Geffen School of Medicine at UCLA, explains, “It was very puzzling because first of all, when you see a newborn baby with congestive heart failure, the most common causes are defects in the heart … Why does this patient have arterial calcifications?”Thanks to available medical research, Dr. Salusky and others on the medical team discover a rare genetic disease similar to their patient’s — one that causes over half the infants born with it to die within six months. Even with this insight, it can take months to officially diagnose the child — time they don’t have. After much research and consulting with the team who wrote the available medical research, Dr. Salusky and team decide to move forward with treatment while they wait for the genetic testing results. The child stabilizes and the condition begins to improve. The story doesn’t end there, though. This child’s ongoing battle would cause specialists to question what they thought they knew about this disease and its treatment — and to keep asking why.