This case involves a delivery on 7/16/2012 at 12:33 pm by scheduled repeat C-Section at Hospital A. Apgars were 9/9. Infant was given ABX because the Mom tested positive for Group B Strep. Right after birth he was taken to the regular nursery. He was transferred to the special care nursery later that evening because he was noted to have petechiae on his back, trunk, buttocks and thighs. HC was 11-25 percentile.
Initial hematocrit and platelets were low at 66000 and maternal platelet count was 245,000. Hospital A called for a consult with Hospital B, which recommended a retest. 2nd test the platelets were at 11,000. Infant was transferred to Hospital B for a transfusion and possible IVIG however he was never given transfusions- only was monitored.
He was admitted to Hospital B at 2350 on the day of birth (7/16/2012). Petechiae noted in the chart. Retested at Hospital B on 7/17/12 which was a 57,000; 7/18/12 which was 54,000 and then again on 7/18/12 at 58,000. He was tested again on 7/19/12 and it was 54,0000. He was considered stable except for platelets- no head studies done. At discharge, he was recommended for follow up blood drawn by the pediatrician. At Hospital B he wasn’t given transfusions or IvIg done- only was monitored and had his blood drawn. Not tested for TORCH or any viral infection.
From Discharge (7/18/12 until the child was 4 months)- the mother would complain to the pediatrician, Dr. X that he wasn’t moving like the other kids, not smiling, not grasping, staring spells- Pediatrician did nothing.
At 5 Months of life- the infant had his first convulsive seizure. Pediatrician referred him to a neurologist. MRI was done at Hospital A on 1/4/13.
MRI taken on 1/4/13 IMPRESSION:
1. 1. INCREASED T1 SIGNAL INTENSITY IN THE PERIVENTRICULAR SUBEPENDYMAL
REGION SUSPICIOUS FOR CALCIFICATION.
2. VENTRICULAR DILATATION WITH GLIOTIC CHANGE AS DESCRIBED ABOVE. THERE
IS THINNING OF THE CORPUS CALLOSUM SUSPECTED AS WELL AS SUSPECTED
ABNORMALITY OF MYELINATION WITH THE GIVEN AGE OF THE PATIENT.
3. SUSPECTED PORENCEPHALIC CYST WITHIN THE RIGHT FRONTAL LOBE WITH A
PERIVENTRICULAR PSEUDOCYST WITHIN THE LEFT FRONTAL LOBE.
4. THESE FINDINGS ARE SUSPICIOUS FOR POSSIBLE CONGENITAL CMV. A
NONCONTRASTED CT STUDY MAY BE HELPFUL TO CONFIRM PERIVENTRICULAR
CALCIFICATION.
5. NO DEFINITE FINDINGS TO SUGGEST CEREBELLAR HYPOPLASIA.
After this MRI, CMV is suspected as the cause of the seizures and delays. On 1/11/13 and EEG was done which was abnormal and child started on phenobarbital.
On February 22, 2013, patient was admitted to Hospital A for seizures and then transferred to Children’s Hospital C and the pediatric Neurologist did more MRI’s which showed damage to brain consistent with CMV infection. Records state that CMV is the likely cause of Infant’s problems. Subsequent records all use a dx of congenital CMV.
Child eventually passed away on December 19, 2022 at the age of 10. Prior to his passing, he was diagnosed with right sided weakness, feeding tube dependence, epilepsy, non-verbal, Cerebral Palsy, wheelchair bound, totally dependent of his mother and siblings.
We are seeking an opinion as to whether antiviral medication would have improved the outcome for this child? We believe we have a case for failure to diagnose and treat CMV infection in a new born. Please review and advise if you would be on board with this case.
Additionally could diagnosis referral and treatment by the pediatrician beginning at two weeks after birth have made a difference in the outcome? Are you able to comment on the progression of the child’s brain damage?
The infant was seem by multiple neonatologists during his stay at Hospital B. The admitting neonatologist suspected CMV due to the thrombocytopenia and petechiae but nevertheless did not order any testing. The neonatologists who treated him subsequently through discharge were not concerned with the persistent thrombocytopenia and he was discharged to his pediatrician who also did nothing.
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Do you believe there might have been medical error?
1) The case synopsis gives no evidence that the child had CMV in the neonatal period. The differential diagnosis of these radiographic findings is not limited to CMV or even limited to "TORCH" infections. 2) There is essentially no data even today, let alone in 2012, showing that antiviral therapy improves any long term outcome of CMV other than hearing loss.
Do you believe there might have been causation (i.e. the medical error resulted in an injury)?
As mentioned above, we lack data that therapy for CMV would have changed any of the child's outcomes.
What makes you a good expert for this case?
Pediatric infectious diseases specialist, I see CMV in my clinic, I have numerous scientific publications about congenital CMV epidemiology and policy.
How often do you encounter cases similar to this one in your practice?
I see newborns with CMV frequently.
Do you believe there might have been medical error?
An infant with petechiae and a platelet count of 11,000 (if real and not spurious) should prompt a workup for TORCH infection including CMV. If urine CMV had been done and had been positive, a head ultrasound should have also been done. This would be standard of care at the time. A pediatric infectious disease specialist should/would also then have been involved.
Do you believe there might have been causation (i.e. the medical error resulted in an injury)?
If congenital CMV with neurological findings had been diagnosed at birth or shortly after, the infant would have received treatment—at least 6 weeks of treatment with IV ganciclovir which was standard of care at that time. We now treat longer and with an oral drug but the studies that showed that was an option and beneficial only came out in 2015. However, treatment for 6 weeks with IV Ganciclovir had only been shown by then to improve hearing outcomes. There was not clear data about neurological outcomes with treatment. So it is not fully clear if treatment would have actually modified this child’s course. That said, it might have. More likely than not it would have based on what we know now about CMV treatment. And so it is quite possible this child would have had a different life course and neurological outcome had he been diagnosed and treated at or just after birth. Additionally, treatment should start within the first 4 weeks of life so there was ample opportunity to go back and correct the initial NICU mistake.
What makes you a good expert for this case?
I am a board certified pediatric infectious disease specialist. I have been an attending physician for 13 years, not including the 6 years in training before that. As a pediatric infectious disease physician, I have evaluated and treated many infants with congenital CMV, both symptomatic and asymptomatic at birth—probably on the order of a couple dozen. I have also been involved in research on CMV and am currently part of a multi-site consortium studying congenital CMV in NY state. This is a very sad case, but one I feel very equipped to handle as an expert witness.
How often do you encounter cases similar to this one in your practice?
See above—not infrequently. Congenital CMV occurs in 1/200 live births and infants symptomatic at birth are 10% of those, so about 1/2000 births. I have seen many infants with congenital CMV and treated many as well.
Do you believe there might have been medical error?
Thrombocytopenia in a neonate with no other obvious explanation (such as immune disorder, bacterial sepsis, etc) should raise concern for congenital CMV (cCMV) infection and prompt more investigations. If suspected a diagnostic test such as urine or saliva CMV PCR/culture should be sent and if positive treatment may be offered. However, in the absence of diagnostic testing results it is not possible to say with certainty that the clinical symptoms and the poor long-term outcome are caused by cCMV. Even the typical MRI findings are not entirely specific and positive predictive value may be as low as 55% Ref: Radiology. 2004 Feb;230(2):529-36. doi: 10.1148/radiol.2302021459). A full and detailed chart review may identify additional clinical (hearing loss? ocular findings?) and laboratory features (hepatitis? colitis? pneumonitis? other cytopenias?) that may make cCMV infection more or less likely.
Do you believe there might have been causation (i.e. the medical error resulted in an injury)?
If the patient had a cCMV infection that was not identified or treated the medical error of failing to diagnose it would have contributed to the injury but it would an exaggeration to say it caused it. In studies treatment with ganciclovir has reduced the occurrence or severity of long-term sequelae (mainly hearing loss), but overall neurodevelopmental outcome was overall poor even in infants treated with ganciclovir.
What makes you a good expert for this case?
Many (20+) years of experience managing infants with congenital CMV, participation in clinical trial of valganciclovir for infants with cCMV and isolated hearing loss.
How often do you encounter cases similar to this one in your practice?
I see several cCMV infections every year, many with milder course of illness, patients with severe disease about 1 per year
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