14-month-old Kenyan infant treated for rare life-threatening disorder in Gurugram

By Shalini Bhardwaj
Gurugram (Haryana) [India], November 14 : Doctors at a private hospital in Haryana's Gurugram 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 and life-threatening 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 Paediatric Haematology, Haemato Oncology and Bone Marrow Transplant, Fortis Memorial Research Institute, Gurugram performed a stem cell transplant with a thoroughly planned chemotherapy regimen.
"This is India's first successfully treated case of Pearson Syndrome. It is an exceptionally rare genetic condition which has 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 4 months now, post 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 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 which are there in the cells are defective in this and because of that, multiple organs, multiple systems of the body, have been involved."
On transplant he said this is the first transplant for the treatment of such disease, "it was a very challenging and difficult case, because till date, only seven transplants, I would say, six transplants for this disorder, have been performed throughout the world, and is the first transplant which we have done in India."
"The successful bone marrow transplant at Fortis Gurugram has given my daughter a second life. She has been doing well, post the transplant. There can be no greater pain in the world than to see one's child suffer," baby Arianna's mother said.
"We got to know about the disease when her haemoglobin started reduced to 2.3 and she started less feeding," she added.
The patient was discharged in a stable condition within 21 days and has been under regular weekly OPD follow-ups. This is the first such case treated in India of a half-matched donor and 7th bone marrow transplant, as reported in medical literature for the treatment of Pearson Syndrome.
Patient Baby Arianna had been suffering from severe anaemia since birth, which significantly affected her overall growth and development. She had undergone multiple blood and platelet transfusions in Kenya, but it did not improve her health. As her symptoms got worse, she urgently needed a half-match donor transplant to survive. She was then presented to Fortis Gurugram with anaemia and low levels of platelets in her body.
The patient underwent bone marrow testing along with certain genetic tests which revealed Pearson Syndrome. Given the complexity and rarity of the condition, a multi-disciplinary approach was adopted, where Baby Arianna was screened by a team of doctors comprising of Paediatric Nephrologists, Paediatric Gastroenterologists, Ophthalmologists and ENT as this condition affects multiple organs of the body and can cause diarrhoea and eye diseases such as abnormal lens and pupil, glaucoma and hearing loss. Post evaluation, bone marrow transplant was chosen as the optimum line of treatment, as the syndrome is a multisystem condition and only a stem cell transplant can aid the treatment of Pearson.
Considering Baby Arianna did not have any siblings match, nor was there any unrelated donor available, she was taken up for transplant from her mother as a half-matched donor. Post this she underwent a stem cell transplant with a thoroughly planned chemotherapy regimen and extensive supportive care. Post the transplant, she has not required any further transfusions so far and is gradually gaining weight with no further complications.
Yash Rawat, Facility Director, 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."