Fortis Memorial Research Institute Successfully Treats 14-Month-Old Kenyan Infant with Pearson Syndrome

Gurugram: Fortis Memorial Research Institute (FMRI), Gurugram has successfully treated a 14-month-old Kenyan infant diagnosed with Pearson Syndrome, an extremely rare and life-threatening genetic disorder.

With a prevalence of approximately 1 in a million and only 150 documented cases in medical literature, this is India's first successful half-matched donor stem cell transplant for Pearson Syndrome and only the seventh such procedure globally.

The procedure was led by Dr Vikas Dua, Principal Director and Head of Paediatric Haematology, Haemato Oncology, and Bone Marrow Transplant at FMRI, who, along with his team, conducted a stem cell transplant combined with a carefully planned chemotherapy regimen.

Within 21 days, the young patient, Baby Arianna, was discharged in stable condition and continues to receive regular weekly follow-ups.

Before arriving at FMRI, Baby Arianna had endured multiple blood and platelet transfusions in Kenya, which failed to improve her severe anemia and overall health.

A comprehensive genetic assessment at FMRI revealed Pearson Syndrome, a condition that severely impacts multiple organs, including the bone marrow and pancreas.

The disorder leads to anemia, stunted growth, gastrointestinal issues, and low platelet counts, often making survival past infancy challenging.

Given the complexity of the condition, a multi-disciplinary team, including specialists in pediatrics, nephrology, gastroenterology, ophthalmology, and ENT, evaluated Baby Arianna to address potential complications across organ systems.

Due to the lack of a fully matched sibling or unrelated donor, her mother was selected as a half-matched donor, enabling the life-saving stem cell transplant.

“This is India’s first successfully treated case of Pearson Syndrome,” stated Dr Vikas Dua.

Dr Vikas added, “It is an exceptionally rare genetic condition with extremely low survival rates. Kids born with the syndrome often do not survive beyond their first year. In Arianna’s case, it has been over four months post-transplant, and she is recovering well. This achievement underscores the importance of the right medical approach and treatment, as bone marrow failure cases in Pearson Syndrome can potentially be treated with hematopoietic stem cell transplantation, despite a mere 20% success rate.”

The FMRI team emphasized the significance of a personalized treatment plan, as noted by Yash Rawat, Facility Director at FMRI.

He said, "This rare case highlights the importance of a personalized treatment approach, which was expertly planned and executed by Dr Vikas Dua and his team. Timely intervention and a tailored strategy are crucial in achieving optimal clinical outcomes. At Fortis Memorial Research Institute, our ultimate goal is to provide world-class healthcare services under one roof, and we remain committed to prioritizing the well-being of our patients."

Expressing gratitude, Baby Arianna’s mother stated, “The successful bone marrow transplant at Fortis Gurugram has given my daughter a second life. She has been doing well post-transplant. There can be no greater pain in the world than to see one’s child suffer. I express my sincere gratitude to Dr Vikas Dua and his team for saving my daughter’s life.”