Newborn Baby Suffering From Rare Genetic Disorder Treated With New Anticancer Drug

A 29-day-old baby boy, who was diagnosed with a rare genetic disorder associated with multiple (rhabdomyomas) tumors in India, has reportedly shown improvement after being administered a new anticancer drug.

According to reports, the baby was suffering from Tuberous Sclerosis, which caused mainly non-cancerous (benign) tumors to develop in different parts of the body and increase his heart rate.

The baby received the treatment at the Bai Jerbai Wadia Hospital for Children (Parel) in the western state of Maharashtra, according to Mid-Day. The drug reportedly decreased the size of the tumors, while normalizing his heart rate.

Following the treatment, the doctors said the baby was arrhythmia-free, weighed 6.1 pounds, and was accepting feeds like other children, Mid-Day reported.

The baby was born to a family in Karjat, a town in Maharashtra. As the unidentified child did not cry after birth, his parents got worried. When local doctors attended to the child, they said the baby had an abnormally fast heart rate. The baby was given two anti-tachycardia medicines called antiarrhythmic. However, since he did not show signs of recovery, the family took him to Wadia Hospital for further treatment.

Senior consultant pediatric cardiologist Dr. Jayashree Mishra said the baby arrived at the hospital in a critical condition with a failing heart.

“With uncontrolled heart rate, the child was going into heart failure. The scan of his heart showed multiple large and small tumors with characteristics suggestive of rhabdomyoma. Primary heart tumors in newborn babies are very uncommon with an incidence of 0.0017-0.02 per cent. Though rhabdomyomas are the commonest primary cardiac tumors, they are overall very rare. Multiple giants and diffuse rhabdomyomas occupying the heart cavities and causing life-threatening arrhythmias have an occurrence of 1 in a million newborn babies. These tumors were numerous and varied in size with one of them as large as 3cm x 3cm attached to the lower pumping chambers of the heart,” Mishra said, according to Free Press Journal.

“On further investigation, we found that this is a familial abnormality and the child’s father and grandmother had the same genetic defect as shown by their clinical stigmata and prior clinical reports. Both have undergone treatment for the same condition, however, in their cases, the heart was spared,” Mishra said.

Rhabdomyomas can cause arrhythmias, blood flow obstruction due to mass effects and heart failure, she added.

“In this baby, these tumors were giving rise to this serious fast heart rate. The tachycardia called SVT was due to an abnormal circuit formed in the heart by the tumor tissue and so it was not responding to any anti-tachycardia drugs,” she said.

The doctor said they could not carry out a surgery as the tumors were very widespread and were difficult to remove in a newborn baby. With not many options in hand, the doctors decided to treat the child with a novel drug Everolimus.

"This anticancer drug worked miraculously for this critically ill newborn and over the next few days, the tumor size started reducing and the heart rate came to a safe range. The heart failure came under control and the child became stable clinically. As this drug needs thorough monitoring of blood sugar, serum lipids, and blood counts, the child was kept under observation in the neonatal intensive care unit,” Mishra said.

After three weeks, all the small tumors regressed, and the largest one decreased to 1 cm in size. The baby's heart function seen via echocardiogram was also within the normal range.

“There has been no recurrence of fast heart rate in the last three weeks. This drug treatment is planned for a total duration of four weeks to allow sustained benefit. There is no side effect of this treatment and at present, the baby is fully stable with normal vitals and feeding orally. He will be discharged upon finishing four weeks of treatment,” Mishra concluded.