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Failure to order appropriate tests

Presentation and physician action

A pediatrician, the defendant in this case, was consulted during a cesarean delivery on February 20. Complications during the pregnancy included polyhydramnios and poorly controlled gestational diabetes.

Following delivery, the baby was taken to the nursery where coarse, wet breath sounds persisted. Because of the continued respiratory problems, he was transferred to a children’s hospital with the diagnosis of respiratory distress, hypoxia, hypoglycemia, and to rule out sepsis.

While at the children’s hospital, an echocardiogram revealed patent ductus arteriosus with left to right shunting. The baby developed sepsis that was treated with ampicillin, gentamicin, and vancomycin. The neonatologist also diagnosed hypomagnesemia and hypocalcemia, which were treated with supplements.

At discharge on March 12, problems noted were “growth and nutrition, infant of a diabetic mother, resolving hypocalcemia, hypomagnesemia, and hyperphosphatemia.” The pediatrician who attended the delivery was to serve as the baby’s doctor.

On March 17, the pediatrician examined the baby. He was doing well. Labs revealed calcium was slightly low, magnesium within normal limits, and phosphorus was high. The values were all improved since the baby’s discharge from the hospital.

During a visit on April 7 repeat labs showed low calcium and high phosphorus. The baby was also diagnosed with GERD.

On April 8, the mother called the pediatrician’s office and reported that she had taken the baby to the emergency department for “twitching.” The mother also said that she was forgetting to give medications and/or the child was not taking the medications. She was instructed about the importance of complete administration of medication and severe complications that could result from non-compliance.

The next day a nurse called the mother and was told the baby was doing much better with no “jerking.” She was advised to bring the baby in for a re-check and to give medications as directed.

The patient was again seen on April 13. The mother reported that the baby had a rectal temperature of 101 degrees and nasal congestion. The pediatrician ordered repeat labs, including calcium, phosphorus, magnesium, PTH, and Vitamin D. The pediatrician also ordered a fluorescent in situ hybridization (FISH) DNA test to assess the possibility of DiGeorge syndrome.

A nurse called the mother on April 17. She reported that the baby was doing well with no shaking or trembling. The patient was seen on April 20 for an ear infection, and on April 22 for a well check.

On April 23, the baby was seen by a pediatric endocrinologist. His treatment plan was to decrease magnesium supplementation, continue calcitriol, and try calcium carbonate on a TID dosing “in order to try to improve compliance” by simplifying dosing schedules. He noted the negative FISH test.

The following week, the baby was seen by the pediatrician and diagnosed with an acute ear infection and bronchiolitis. He was treated with antibiotics and showed some initial improvement.

On May 17, the mother called the pediatrician’s office to make an appointment for the 18th.The staff member who took the phone call noted that she could hear the baby coughing in the background and asked if the mother wanted to speak to a nurse. The mother replied she would wait to see the pediatrician in the morning.

The baby was brought to the pediatrician’s office on May 18. He was pale and lethargic and the mother reported he was having trouble breathing. The pediatrician diagnosed moderate respiratory distress and transferred the baby to a children’s hospital via ambulance.

On the way to the hospital, the baby required emergency intubation. Once stabilized at the hospital, he was transferred to the pediatric ICU of another hospital with bronchopneumonia, viral bronchiolitis, possible sepsis, respiratory failure, circulatory insufficiency, and hypocalcemia.

While in the PICU, the baby was treated by a pediatric hematologist, a pediatric nephrologist, a pediatric immunologist, and a pediatric infectious disease physician. His treating physicians suspected DiGeorge syndrome due to a finding of no T-cells on lymphocyte subset and low parathyroid hormone. However, FISH test results were negative. Other considerations included severe combined immune deficiency, possibly Nezelof syndrome, or early onset adenosine deaminase deficiency.

The baby developed a disseminated adenovirus infection and multi-organ system dysfunction. He died before a definitive diagnosis could be reached.


Lawsuits were filed against the baby’s pediatrician and her practice group, the pediatric endocrinologist, and the neonatologist who treated the baby after his birth. The allegations included failure to order a T-cell test in a prompt, timely manner; failure to arrive at a correct diagnosis; and failure to order prompt, timely transfer of the baby to a facility and providers who were competent to treat him.

Legal implications

DiGeorge syndrome is extremely rare with approximately 20 to 50 babies out of 4 million annually having complete DiGeorge. The plaintiff’s expert testified that the defendants should have ordered a T-cell count which would have confirmed the diagnosis allowing for a possible thymus transplant.

According to this expert, the FISH test was appropriate but not definitive given the test’s less than 100% accuracy. If the FISH test is positive a physician can rule in DiGeorge syndrome. If the FISH test is negative, there is still a 10% chance the child has DiGeorge.

Defense consultants were supportive of the pediatrician’s actions in this case. Overall, the care given during multiple office visits, the telephone follow-up, and the documentation were excellent. The pediatrician made timely and appropriate referrals. She considered DiGeorge syndrome and ordered the appropriate test. Given the negative FISH test, a T-cell count was not indicated.

One expert reviewing this case stated that many physicians will never diagnose a DiGeorge patient in their entire careers, but will see many patients with thrush, spitting up, wheezing, and colds every day. The baby did not exhibit the classic signs and symptoms of DiGeorge syndrome, and the pediatrician had no duty to rule it in or out.

A pediatric infectious disease specialist testified that a T-cell count would be ordered when the child had unusually severe infections or when a child’s response to therapy seemed unusually delayed. There was nothing about the child’s illness or response to therapy that should have alerted the pediatrician to the possibility that the child had an immunodeficiency. Further, when a FISH test is performed, 95% of the time the test is correct in diagnosing or ruling out DiGeorge syndrome.

Another defense expert testified that the proximate cause of death was the adenovirus infection, which was diagnosed while the child was hospitalized. Adenovirus is extremely dangerous in all children, and in those who are immunologically compromised, it proves nearly 100% fatal. It was difficult to see how an earlier diagnosis of DiGeorge syndrome would have changed the outcome of this case.


This case was taken to trial and the jury returned a verdict in favor of all the defendants.

Risk management considerations

It is useful to review the physician’s actions that led to the successful defense of this case. The pediatrician suspected a rare disorder and ordered the appropriate test. She made appropriate referrals, provided excellent follow up, and changed dosages of medications as needed. Her records reflected good documentation of her rationale, treatment decisions, and appropriate actions. All of these elements led to a successful defense.

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