Apollo Navi Mumbai Performs Life-Saving Bone Marrow Transplant on 4-Year-Old with Ultra-Rare Chediak-Higashi Syndrome |
On World Rare Disease Day, Apollo Hospital Navi Mumbai highlighted a rare medical success story, treating a four-year-old girl from Mauritius diagnosed with Chediak-Higashi Syndrome (CHS), a condition with fewer than 500 reported cases worldwide.
The young girl had been in and out of hospitals since infancy, battling persistent infections despite ongoing treatments. Her condition was marked by low platelet and white blood cell levels, along with liver and spleen enlargement. Notably, her lighter skin and grayish hair pointed to CHS, a rare genetic disorder that compromises the immune system and increases susceptibility to life-threatening infections. Following an evaluation by doctors in Mauritius, she was referred to Apollo Hospital Navi Mumbai for specialized care.
Apollo Navi Mumbai Performs Life-Saving Bone Marrow Transplant on 4-Year-Old with Ultra-Rare Chediak-Higashi Syndrome |
Upon arrival, a team of specialists at Apollo Hospital conducted a thorough assessment. Microscopic examinations of her blood and bone marrow revealed large, fused granules—a hallmark of CHS. Genetic testing confirmed a mutation in the LYST gene, which weakens the immune system, making affected individuals prone to severe infections, abnormal bruising, and oculocutaneous albinism.
Time was critical, as CHS patients are at risk of developing an accelerated phase where white blood cells multiply uncontrollably, invading multiple organs and leading to life-threatening complications. Without timely intervention, this phase—known as Hemophagocytic Lymphohistiocytosis (HLH)—can be fatal.
Hematopoietic stem cell transplantation (HSCT), or bone marrow transplant, remains the only curative treatment for CHS. However, the child had no sibling donor, necessitating an urgent search for a matched unrelated donor. Fortunately, a perfect match was identified through the Indian donor registry, allowing the hospital to proceed with a life-saving transplant.
In preparation for the procedure, the child underwent chemotherapy and conditioning therapies to ready her body for the new stem cells. Despite the challenges, she displayed remarkable resilience, supported by her parents and the medical team.
The bone marrow transplant was successful, but the post-transplant period posed new challenges. Around Day 40, she developed Grade III gut Graft-versus-Host Disease (GVHD), a condition where the donor cells attack the recipient’s tissues. The hospital’s specialized transplant team quickly intervened, adjusting her treatment to manage the condition effectively. Later, at Day 58, blood tests revealed a cytomegalovirus (CMV) infection, requiring immediate antiviral treatment. With careful monitoring and expert care, the infection was controlled, and the child steadily recovered. By the 150th day post-transplant, tests confirmed complete donor chimerism, indicating the new cells had fully integrated into her system. With a restored immune system, she is now able to enjoy a normal childhood.
“This case highlights the importance of early diagnosis and timely intervention,” said Dr. Vipin Khandelwal, Consultant Pediatric Hemato Oncology and Bone Marrow Transplant (BMT). “Children with recurrent infections should be screened for potential immunodeficiencies. We are grateful that we could confirm the diagnosis and carry out the transplant in time.”
Dr. Khandelwal also emphasized the crucial role of donor registries in such cases. “When a matched sibling donor is unavailable, matched unrelated donor BMT and haploidentical BMT serve as viable alternatives. This child was fortunate to find a perfect match through the Indian registry, giving her a new lease on life.”
“This young girl’s recovery is a testament to her resilience and the dedication of our medical team,” said Arunesh Punetha, Regional CEO-Western region, Apollo Hospitals. He further noted, “Apollo Hospitals Navi Mumbai has performed over 60 successful bone marrow transplants. This case reinforces the importance of genetic counseling and specialized treatment for children with rare conditions.”
The child will continue regular follow-ups to ensure her immune system remains strong.
