Four-Year-Old Girl Receives Lifesaving Bone Marrow Transplant for Rare Disorder
A four-year-old girl from Mauritius diagnosed with Chediak-Higashi Syndrome received a lifesaving bone marrow transplant. This rare disorder weakens the immune system and increases infection susceptibility. With extensive medical intervention and a well-matched donor, her health improved significantly, showcasing the importance of early diagnosis and specialized medical care in treating rare conditions.
A four-year-old girl from Mauritius received a lifesaving bone marrow transplant after being diagnosed with Chediak-Higashi Syndrome (CHS), a rare immunodeficiency disorder. This condition arises from a mutation in the LYST gene, which compromises the immune system and renders individuals vulnerable to severe infections, as stated by Dr. Kunal Goyal, consultant haemato-oncologist at Kokilaben Dhirubhai Ambani Hospital in Navi Mumbai.
Henishka Gohee, the child, had experienced recurrent infections since infancy. Her parents sought advanced medical assistance at Apollo Hospitals, Navi Mumbai, where tests revealed significant abnormalities in her blood and bone marrow. The hospital identified bone marrow transplantation (BMT) as the sole curative treatment for CHS, critical for the child’s long-term survival despite the initial absence of a matched sibling donor.
Dr. Vipin Khandelwal, consultant in Pediatric Hemato-Oncology at Apollo Hospitals, noted that the child’s lighter skin and greyish hair were early indicators of CHS. Timeliness was crucial, as the condition could rapidly escalate to severe complications involving uncontrollable white blood cell proliferation, leading to organ failure. The child fortunately found a suitable donor through the Indian donor registry.
Prior to the transplant, extensive preparations were needed to make the child’s body ready for healthy stem cell infusion. Dr. Goyal emphasized that such transplants are complex and carry a heightened risk of infection, especially in young patients. Following the procedure, the child faced significant challenges, including Grade III gut Graft-versus-Host Disease (GVHD) and subsequent infections, but these were managed effectively by her medical team.
By the 150th day post-transplant, the child’s immune system showed signs of full recovery, with tests confirming complete donor chimerism. Arunesh Punetha, regional CEO at Apollo Hospitals, praised the child’s resilience and highlighted the importance of precision medicine in pediatric hematology. This case illustrates the critical need for genetic counseling and specialized care for children with rare diseases.
The remarkable case of Henishka Gohee emphasizes the significance of timely medical intervention in the treatment of rare immunodeficiency disorders. The successful bone marrow transplant not only saved her life but also underscored the vital role of specialized care in pediatric hematology. Enhanced awareness and scientific advancements in treatment options could lead to better outcomes for similar patients in the future.
Original Source: www.hindustantimes.com
