Timely Bone Marrow Transplant Saves Life of 4-Year-Old with Rare Disorder
A four-year-old girl from Mauritius suffering from Chediak-Higashi Syndrome received a life-saving bone marrow transplant at Apollo Hospitals in Navi Mumbai. The disease, which severely weakens the immune system, was addressed through successful medical interventions, including finding an unrelated donor from the Indian donor registry. Her recovery highlights the importance of timely diagnosis and the role of precision medicine in pediatric hematology.
A four-year-old girl from Mauritius diagnosed with Chediak-Higashi Syndrome (CHS) received a timely bone marrow transplant, a procedure known as hematopoietic stem cell transplantation (HSCT), which proved to be a life-saving intervention. This rare immunodeficiency disorder, caused by a mutation in the LYST gene, severely compromises the immune system, making affected individuals vulnerable to life-threatening infections, as explained by Dr. Kunal Goyal, a consultant at Kokilaben Dhirubhai Ambani Hospital.
Henishka Gohee, the young patient, had suffered from recurrent infections since infancy. Her parents sought advanced medical treatment and visited Apollo Hospitals in Navi Mumbai for a thorough evaluation. Tests conducted in January revealed that her bone marrow contained fused large granules, indicative of CHS. Notably, bone marrow transplantation is the only definitive cure for this condition, with the potential for long-term survival.
The absence of a matched sibling donor complicated her case, prompting the need for alternative donor options. Early signs of CHS in Henishka included lighter skin and greyish hair, noted Dr. Vipin Khandelwal. The urgency for treatment was heightened since children with CHS risk progressing to severe complications, including infections and organ failure due to unregulated white blood cell division.
Dr. Khandelwal emphasized the importance of HSCT as the primary treatment for CHS. In this case, Henishka successfully found a perfect match in the Indian donor registry, demonstrating the generous spirit of medical donors. Extensive preparation was required before the transplant to condition her body to receive healthy stem cells, with heightened risks of infections given her age.
Following the transplant, Henishka faced significant challenges, including a serious complication known as Grade III gut Graft-versus-Host Disease (GVHD) and subsequent infections. Each complication was managed through prompt medical interventions, which ultimately led to complete donor chimerism by day 150 post-transplant, signifying the successful integration of the donor’s cells into her immune system.
This case underscores the vital role of precision medicine in pediatric hematology. Arunesh Punetha, regional CEO of Apollo Hospitals, remarked on the remarkable resilience of Henishka and the expertise of her medical team. The situation also highlights the need for genetic counseling and specialized care for children with rare medical conditions.
The case of Henishka Gohee illustrates the life-saving potential of bone marrow transplantation for children with rare disorders like Chediak-Higashi Syndrome. The successful identification of a compatible donor and subsequent medical interventions underscore the critical importance of timely diagnostics and personalized treatment in pediatric care. Furthermore, it serves as a testament to the extraordinary resilience of young patients and the capabilities of their medical teams.
Original Source: www.hindustantimes.com
