A four-year-old from Mauritius, diagnosed with Chediak-Higashi Syndrome, received a life-saving bone marrow transplant at Apollo Hospitals in Navi Mumbai. She underwent extensive treatment due to immune deficiency caused by a LYST gene mutation, which had made her susceptible to severe infections. The successful surgery involved finding a perfect donor through the Indian registry, showcasing the importance of timely medical intervention and genetic counseling.
A four-year-old girl from Mauritius diagnosed with Chediak-Higashi Syndrome (CHS) received critical care through a bone marrow transplant, officially termed hematopoietic stem cell transplantation (HSCT). Dr. Kunal Goyal, a consultant haematologist at Kokilaben Dhirubhai Ambani Hospital in Navi Mumbai, described CHS as an immune deficiency disorder resulting from a mutation in the LYST gene, which severely compromises the immune system, increasing susceptibility to life-threatening infections. Children with CHS also exhibit oculocutaneous albinism and have an increased tendency to bruise.
Henishka Gohee, the young patient, had been struggling with recurrent infections since infancy, prompting her parents to seek advanced treatment at Apollo Hospitals, Navi Mumbai. In January, medical evaluations revealed that her bone marrow contained large granules, characteristic of CHS. The medical team emphasized that HSCT is the only curative treatment for this syndrome, potentially offering long-term survival. However, finding a matched sibling donor was challenging, necessitating alternative solutions.
Dr. Vipin Khandelwal from Apollo Hospitals highlighted that the initial signs of CHS included the child’s lighter skin and greyish hair. The timely diagnosis was crucial for ensuring life-saving treatment, as children with CHS risk progressing to a critical phase where uncontrolled white blood cells can lead to severe complications, including infections and organ failure. HSCT remains the primary treatment option; however, alternative matching donors may also be utilized in such cases.
Fortunately, through the Indian donor registry, the young girl found a perfectly matched unrelated donor, offering her a renewed opportunity for survival. The preparatory phase for the transplant was extensive, requiring meticulous conditioning of her body to accept healthy stem cells. Dr. Goyal explained the complexities and risks involved with transplants, notably the heightened chance of fatal infections due to the child’s age.
The post-transplant phase presented significant challenges, including the onset of Grade III gut Graft-versus-Host Disease (GVHD), where donor cells attacked her tissues. After managing several serious complications, tests conducted on day 150 confirmed the complete integration of donor cells into her immune system, marking a significant recovery milestone. Dr. Khandelwal commended the teamwork involved in overcoming these obstacles.
Arunesh Punetha, the regional CEO for Apollo Hospitals, celebrated the child’s resilience and the expertise of the medical team that guided her through this extraordinary health challenge. Her case illustrates the importance of genetic counseling and specialized care for children with rare medical conditions.
The successful bone marrow transplant for the four-year-old girl emphasizes the vital role of early diagnosis and intervention in managing rare immunodeficiency disorders such as Chediak-Higashi Syndrome. Medical professionals and donor registries play a critical role in providing necessary treatments, paving the way for healthier futures for affected children. This case showcases the intersection of advanced medical care and community generosity in addressing severe health challenges.
Original Source: www.hindustantimes.com
