Gurugram (Haryana) [India], November 14 (HBTV): Doctors at a private hospital in Gurugram, Haryana, have successfully treated a 14-month-old baby from Kenya who was suffering from the extremely rare and life-threatening Pearson Syndrome.

There are only 150 documented cases of this exceptionally rare disorder globally, with a survival rate beyond one year. The prevalence of this disease is approximately 1 in a million.

A team of doctors led by Dr. Vikas Dua, Principal Director and Head of Pediatric Hematology, Hemato Oncology, and Bone Marrow Transplant at Fortis Memorial Research Institute, Gurugram, performed a stem cell transplant with a carefully planned chemotherapy regimen.

'This is India's first successfully treated case of Pearson Syndrome. It is an exceptionally rare genetic condition with extremely low survival rates; kids born with the syndrome usually do not survive beyond their first year. However, in Arianna's case, it’s been over four months now since the transplant, and she is recovering well. The condition occurs when important parts of the mitochondria's DNA are missing, leading to problems with energy production in cells. It is important to note that such conditions can be cured with the right medical approach and treatment,' Dr. Vikas told ANI.

In simplest terms, he explained, 'If I have to tell you, in a simplified way, the powerhouse within the cells is defective, and because of that, multiple organs and systems in the body are involved.'

Regarding the transplant, he said, 'This was a very challenging and difficult case, as only seven transplants for this disorder have been performed worldwide to date, and it is the first transplant of its kind in India.'

'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,' baby Arianna's mother said.

'We learned about the disease when her hemoglobin dropped to 2.3, and she started feeding less,' she added.

The patient was discharged in stable condition within 21 days and has been under regular weekly OPD follow-ups. This is the first such case treated in India with a half-matched donor and the seventh bone marrow transplant reported in medical literature for the treatment of Pearson Syndrome.

Baby Arianna had been suffering from severe anemia since birth, which significantly affected her overall growth and development. She had undergone multiple blood and platelet transfusions in Kenya, but her health did not improve. As her symptoms worsened, she urgently needed a half-match donor transplant to survive. She was then presented to Fortis Gurugram with anemia and low platelet levels.

The patient underwent bone marrow testing and genetic tests, which revealed Pearson Syndrome. Given the complexity and rarity of the condition, a multidisciplinary approach was adopted, with Baby Arianna being screened by a team of doctors, including pediatric nephrologists, pediatric gastroenterologists, ophthalmologists, and ENT specialists, as the condition affects multiple organs and can cause symptoms like diarrhea and eye diseases, including abnormal lens and pupil, glaucoma, and hearing loss. After evaluation, a bone marrow transplant was chosen as the optimal treatment, as only a stem cell transplant can aid in treating Pearson Syndrome.

Since Baby Arianna did not have any sibling matches or unrelated donors available, she received a transplant from her mother as a half-matched donor. She then underwent a stem cell transplant with a thoroughly planned chemotherapy regimen and extensive supportive care. Post-transplant, she has not required any further transfusions and is gradually gaining weight with no additional complications.

Yash Rawat, Facility Director at Fortis Memorial Research Institute, Gurugram, 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.'   

(ANI)