A complex surgery performed on a 9-month-old baby to treat Neonatal Severe Hypoparathyroidism, a rare genetic condition

About the Patient and condition

A 9-month-old baby presented on May 3, 2020 at Apollo Hospitals, Navi Mumbai with lethargy, irritability, and failure to thrive since birth.

Case Scenario

At Apollo Hospitals, Navi Mumbai, Dr. Anil K D’Cruz, Director, Oncology and a specialist in Thyroid & Parathyroid surgery advised a detailed evaluation. The patient was then diagnosed with a rare genetic disorder of the parathyroid glands known as Neonatal Severe Hypo parathyroidism that causes loss of regulation of calcium levels.

Surgery was planned to remove the abnormal glands. After removal of the abnormal glands as confirmed by the pathologist during surgery, the PTH and calcium levels returned to normal. An intensive ICU monitoring was required in the immediate post-operative period, as it was a critical period which can be life threatening. The child made steady progress, was less irritable and more active than ever. He was discharged on May 8, 2020.

Worldwide Scenario

Neonatal severe hypoparathyroidism is a rare and potentially lethal condition with only a handful of cases reported globally. While surgery offers good prognosis, the challenge was in the diagnosis, given the rarity of the condition. The calcium levels had to be brought down with medical treatment to optimize the child for surgery.

Expertise at Apollo Hospitals

The parathyroid is responsible for regulating calcium levels in the body. When the body has low calcium, the parathyroid secretes parathormone (PTH) which mobilizes calcium from the bone, increases absorption from intestines and prevents excretion from the kidney to maintain calcium levels. A normal feedback mechanism stops the PTH secretion when the calcium levels return to normal. However, in rare cases such as Neonatal Severe Hypoparathyroidism, a fault in a single gene eliminates this feedback mechanism, which results in extremely high calcium and PTH levels. Surgery is required to remove the abnormal glands, which is technically challenging in the neonate and has high risk. This is due to difficultly in locating the parathyroid, which is close to critical structures in the neck including the nerves that supply the voice box, which are as fine as human hair and if damaged, will result in permanent loss of voice.

“The surgery was complex due to the miniscule size, translucent colour, critical and variable position of the parathyroid glands in children that makes it difficult to locate them. However, we were successfully able to remove the abnormal glands and use a special technique of Auto Transplantation of a small bit of parathyroid to improve long-term prognosis. This will help make the child less dependent on calcium replacement as he grows”, said Dr. Anil K D’Cruz.

Apollo Hospitals – Touching Lives

“Apollo Cancer Centre is redefining cancer care in the region with organ specific protocols, expertise, and technology. The Hospital offers comprehensive cancer care with a personalised approach which has helped in improved outcomes and quality of life for the patients. Every year India reports more than a million new cancer cases and better accessibility for cancer care with advanced technologies needs added attention. We also focus on early screening and detection with multi-disciplinary reviews undertaken with tumour board participation”, said Mr. Santosh Marathe, COO and Unit Head of Apollo Hospitals, Navi Mumbai.

Patient’s testimonial

The child’s father, Mohd. Mudassir Ansari said “My son Konain, was suffering from high fever when he was six months old. He was first diagnosed with pneumonia and discharged after three days of treatment at a private hospital. He wasn’t getting any better so we took a blood test where the doctors observed very high levels on Calcium in his body and was later diagnosed with Parathyrodism / hypercalcemia. We were recommended a surgery, so we came to Apollo Hospitals Navi Mumbai. Post his surgery, Konain has started recovering steadily and I would like thank the hospital for their service during this lockdown.”

The mother expressed her delight on the successful procedure saying that she had never seen her child this active in the nine months since his birth.