4-yr-old girl with rare disorder gets lifeline | Mumbai news

NAVI MUMBAI: A timely medical intervention in the form of a bone marrow transplant, medically known as hematopoietic stem cell transplantation (HSCT), proved to be a lifesaving treatment for a four-year-old girl from Mauritius, diagnosed with Chediak-Higashi Syndrome (CHS), a rare immunodeficiency disorder.

“CHS is a type of immune deficiency syndrome caused by a mutation in the LYST gene, which weakens the immune system, leaving affected individuals highly susceptible to life-threatening infections,” explained Dr. Kunal Goyal, consultant haemato-oncologist, Bone Marrow Transplant (BMT) and Cellular Therapies (CAR-T) at Kokilaben Dhirubhai Ambani Hospital, Navi Mumbai. “Apart from neutrophil (type of white blood cells) dysfunction, patients often exhibit oculocutaneous albinism and increased bruising.”

Parents of the child, Henishka Gohee, who had been battling recurrent infections since infancy, travelled to Apollo Hospitals, Navi Mumbai, in search of advanced medical care. She was evaluated in January and underwent examination of her blood and bone marrow. The test revealed her bone marrow was fused into large granules, a clear indication of the syndrome.

Doctors at Apollo Hospitals said bone marrow transplantation (BMT) remains the only curative treatment for CHS, offering patients the potential for long-term survival. With appropriate interventions, individuals with the disorder can live for several decades. However, the challenge in the case of the child was the absence of a matched sibling donor, necessitating an alternative approach.

“The first indication of CHS in this child was her lighter skin and greyish discoloration of hair,” said Dr. Vipin Khandelwal, consultant, Pediatric Hemato-Oncology and Bone Marrow Transplant (BMT), Apollo Hospitals. “Her journey underscores the importance of early diagnosis in making a life-saving difference.”

Time was critical, as children with CHS are at high risk of progressing to an accelerated phase, characterised by uncontrolled white blood cells, which divide uncontrollably and invade many of the body’s organs. This phase can lead to severe complications, including fever, abnormal bleeding, and overwhelming infections culminating in organ failure.

“Hematopoietic stem cell transplantation (HSCT), commonly known as bone marrow transplant, is the definitive treatment for CHS,” said Dr. Khandelwal. “However, when a fully matched sibling donor is unavailable, matched unrelated BMT donor or haploidentical BMT becomes a viable alternative. In this case, the child was fortunate to find a perfect match through the Indian donor registry, a remarkable instance of medical generosity that offered her a new chance at life.”

The months leading up to the transplant involved extensive medical preparation to condition the child’s body for receiving healthy stem cells. “Transplants are always complex, and the risk of infections considering the age factor is always on the higher side. The possibility of a fatal infection looms large,” explained Dr. Goyal.

As predicted, the post-transplant period brought significant challenges. Around day 40, the child developed Grade III gut Graft-versus-Host Disease (GVHD), a serious complication where the new donor cells attack the recipient’s tissues. On day 58, her blood reports further diagnosed an infection.

“Each of these hurdles was carefully managed with prompt medical interventions,” said Dr. Khandelwal. “By the 150th day post-transplant, tests confirmed complete donor chimerism, indicating that the new cells had fully engrafted, and her immune system had been successfully reconstituted.”

The child’s recovery highlights the critical role of precision medicine in paediatric haematology and oncology. “This little girl’s resilience, coupled with the expertise of her medical team, led to an extraordinary outcome,” said Arunesh Punetha, regional CEO, Western Region, Apollo Hospitals. “Her case also underscores the importance of genetic counselling and specialised care for children born with rare conditions.”