A First-in-India 14-Month-Old Kenyan Infant with Pearson Syndrome; One of the Rarest Blood Disorders in the World, Successfully Treated at Fortis Gurugram

• Pearson Syndrome is an extremely rare condition and the prevalence is approximately 1 in a million-
• Most children suffering from the disorder do not survive beyond the first year –

National, November 14, 2024: Fortis Memorial Research Institute, Gurugram has achieved a significant medical milestone by successfully treating a 14-month-old Kenyan infant, diagnosed with Pearson Syndrome, an exceptionally rare and life-threatening disorder. The prevalence of the rare ailment is approximately 1 in a million, with only 150 such cases mentioned in medical literature. The Team of Doctors led by Dr Vikas Dua, Principal Director and Head, Paediatric Haematology, Haemato Oncology and Bone Marrow Transplant, Fortis Memorial Research Institute, Gurugram performed a stem cell transplant with thoroughly planned chemotherapy regimen. The patient was discharged in a stable condition within 21 days and has been under regular weekly OPD follow-ups. This is a First such case treated in India of half-matched donor and 7th Bone Marrow Transplant, as reported in medical literature for 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.

Upon admission at Fortis Gurugram, the patient underwent a bone marrow testing along with certain genetic tests which revealed Pearson Syndrome. Pearson syndrome is a very rare condition that affects various parts of the body, in particular the bone marrow, pancreas, causes bleeding due to underproduction of blood and platelets, frequent diarrhoea, stomach pain, poor or stunted growth and failure to survive.

Given the complexity and rarity of the condition, a multi-disciplinary approach was adopted, where Baby Arianna was screened by 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 which 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.

Giving details of the case, Dr Vikas Dua, Principal Director and Head, Paediatric Haematology, Haemato Oncology and Bone Marrow Transplant, Fortis Memorial Research Institute, Gurugram said, “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. Hematopoietic Stem Cell Transplant or Bone Marrow Transplantation can be a treatment option for Pearson Syndrome in cases of Bone marrow failure. The success rate for which is mere 20%.”

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.”

Expressing gratitude, Baby Arianna’s Mother said, “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. I express my sincere gratitude to Dr Vikas Dua and his team of for saving my daughter’s life.”

Corporate Comm India (CCI Newswire)