4-Year-Old Girl with Rare Disorder Receives Lifesaving Bone Marrow Transplant
A 4-year-old girl from Mauritius received a lifesaving bone marrow transplant for Chediak-Higashi Syndrome (CHS), a rare immunodeficiency disorder. The timely intervention highlights the importance of early diagnosis and the critical nature of finding matched donors. The girl’s post-transplant recovery and expert medical management emphasize the advances in pediatric hematology and the necessity of genetic counseling.
A four-year-old girl from Mauritius received a lifesaving bone marrow transplant (hematopoietic stem cell transplantation, HSCT) for Chediak-Higashi Syndrome (CHS), a rare immunodeficiency disorder. Dr. Kunal Goyal from Kokilaben Dhirubhai Ambani Hospital explained that CHS, caused by a mutation in the LYST gene, leads to severe immune deficiencies and increased susceptibility to infections, along with symptoms like albinism and bruising.
The girl’s parents sought treatment at Apollo Hospitals, Navi Mumbai, after observing recurrent infections since infancy. Tests revealed that her bone marrow contained large granules, confirming CHS. BMT is currently the only cure for CHS, offering potential long-term survival, but challenges arise when there is no matched donor.
Dr. Vipin Khandelwal noted that the child’s lighter skin and hair were initial indicators of CHS. Prompt diagnosis is crucial as CHS can quickly progress to severe phases involving uncontrolled white blood cell proliferation, leading to infections and organ failure.
Dr. Khandelwal emphasized that while HSCT is the definitive treatment, finding compatible donors is essential. The child was fortunate to find a match from the Indian donor registry, illustrating the significance of medical altruism in her treatment journey.
Pre-transplant preparation was extensive, considering the complexity and infection risks involved, especially for young patients. The post-transplant period presented challenges; the child developed Grade III gut Graft-versus-Host Disease (GVHD) and faced subsequent infections.
Every complication was managed with medical precision, and by day 150 post-transplant, tests confirmed that her body had fully accepted the new cells, reviving her immune system. Arunesh Punetha, Regional CEO at Apollo Hospitals, praised the effort and the critical role of genetic counseling for children with rare disorders.
The successful treatment of a four-year-old girl with Chediak-Higashi Syndrome showcases the effectiveness of bone marrow transplantation in managing rare immunodeficiency disorders. The case highlights the importance of early diagnosis, donor matching, and the need for comprehensive medical care in pediatric oncology. It also reiterates the role of genetic counseling and advances in precision medicine.
Original Source: www.hindustantimes.com
