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

11/02/22 • 12 min

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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.

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.

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Overlooked Diagnostic Test for Blood Calcium Levels Leads to Rare Diagnosis

A 23-year-old presents to the emergency department with progressive symptoms. It starts with tingling in the fingertips that lead to leg cramps that turn into feeling like she’s turning into stone, frozen in one position with stabbing pain. And perhaps most troubling, she can't concentrate. In fact, the brain fog is so severe that she’s afraid to drive.

Over the course of three days, her life has been turned upside down.

She takes a taxi to the emergency department and is seen after waiting six hours. She provides a quick medical history, noting she recently had neck surgery for parathyroid overactivity — an important clue to her diagnosis.

Parathyroid glands produce parathyroid hormone that regulates the blood calcium level, which maintains bone strength and helps muscles and nerves function. Calcium levels in the blood have to be kept at a very specific level. Just like in your physiology lectures: HYPERcalcemia and HYPOcalcemia. And calcium levels that are either too high or too low can be deadly.

But in moving quickly in the emergency department, testing for serum calcium is overlooked. A patient with recent neck surgery has symptoms consistent with low blood calcium levels — why not check her calcium?

It’s true that in a chaotic ER things can be overlooked. But a lot of time, calcium isn't ordered because it's not part of the regular "electrolyte” or “chemistry” panel — it has to be added specifically. With computer systems and the way test panels like these are built, they can shape the thinking of physicians, putting certain symptoms front of mind, while others might get neglected.

Fortunately, a diagnosis was caught early enough for this patient that no long-term damage was done. But this case serves as a reminder that although rare diseases are rare, it doesn’t mean as a healthcare professional, you’ll never encounter them.