Four-Year-Old Girl from Mauritius Receives Lifesaving Bone Marrow Transplant

A four-year-old girl from Mauritius received a lifesaving hematopoietic stem cell transplant for Chediak-Higashi Syndrome, a rare disorder that weakens the immune system. With expert medical care at Apollo Hospitals, she underwent significant treatment, including combating post-transplant complications. Her case underscores the need for early diagnosis and the critical role of donor support.

A timely hematopoietic stem cell transplantation (HSCT) has provided a lifesaving treatment for Henishka Gohee, a four-year-old girl from Mauritius suffering from Chediak-Higashi Syndrome (CHS), a rare immunodeficiency disorder. This condition is due to a mutation in the LYST gene, which compromises the immune system and increases susceptibility to life-threatening infections. Dr. Kunal Goyal, a consultant in haemato-oncology at Kokilaben Dhirubhai Ambani Hospital, emphasized the significance of early diagnosis and treatment for better outcomes.

Henishka, who had been experiencing recurrent infections since infancy, sought advanced medical care at Apollo Hospitals, Navi Mumbai. Upon evaluation in January, tests revealed that her bone marrow contained large granules, indicative of CHS. Given that bone marrow transplantation is the only curative treatment for this disorder, the absence of a matched sibling donor posed a challenge for her treatment.

Dr. Vipin Khandelwal, a consultant in Pediatric Hemato-Oncology, noted that the initial signs of CHS included the child’s lighter skin and grayish hair discoloration. Time was of the utmost importance, as children with CHS risk rapid progression to a severe phase characterized by uncontrolled white blood cell proliferation, leading to complications.

Dr. Khandelwal reiterated that HSCT is the definitive treatment for CHS. In cases where a fully matched sibling donor is unavailable, matched unrelated or haploidentical bone marrow donor options exist. Henishka was fortunate to find a perfect match through the Indian donor registry, providing her with a renewed chance at life.

In the months leading up to the transplant, extensive medical preparations were undertaken to prepare Henishka for the procedure. The transplant process, particularly for a young child, involves heightened risks, including the possibility of fatal infections. Post-transplant challenges included the development of Grade III gut Graft-versus-Host Disease (GVHD) and an additional infection diagnosed on day 58.

Each complication was meticulously managed with prompt medical interventions. By the 150th day following the transplant, tests confirmed complete donor chimerism, demonstrating the successful integration of the new cells and the reconstitution of her immune system. Arunesh Punetha, Regional CEO of Apollo Hospitals, acknowledged the child’s resilience and the vital role of specialized care in achieving this positive outcome.

The case of Henishka Gohee illustrates the critical importance of timely intervention and the complexities of treating rare immunodeficiency disorders like Chediak-Higashi Syndrome. Through the collaboration of a dedicated medical team and the generosity of an unrelated donor, she has been given a new lease on life. This highlights not only the advances in pediatric hematology and oncology but also the importance of awareness and genetic counseling for rare conditions.

Original Source: www.hindustantimes.com