A 12-year-old boy (name is not mentioned to protect patient privacy) was referred to Artemis Hospitals with a longstanding history of severe blood production abnormalities that had remained undiagnosed since infancy. In his early years, he had been treated as a suspected case of Diamond-Blackfan anaemia and showed a partial response to steroid therapy. However, by the age of 11, his condition had worsened significantly, leading to severe anaemia and critically low platelet counts that required frequent blood transfusions.
A detailed assessment was carried out by a multidisciplinary team at Artemis Hospitals comprising specialists in paediatric haemato-oncology and bone marrow transplantation. Further advanced investigations confirmed the diagnosis of MYSM1-related Bone Marrow Failure Syndrome, an exceptionally rare inherited disorder with fewer than 20 reported cases worldwide. The condition affects the bone marrow’s ability to produce healthy blood cells and poses major treatment challenges because of its rarity and the highly specialised care it requires.
As the disease progressed, the patient became increasingly dependent on repeated blood transfusions, placing a significant physical and emotional burden on both the child and his family. Given the complexity of the condition and the underlying genetic defect, the transplant team at Artemis Hospitals has to carefully adapt conventional transplant protocols to reduce the risk of treatment-related toxicity while maximising the chances of a successful outcome.
The patient was treated under the care of Dr. Arun Singh Danewa, Senior Consultant – Pediatric-Haemato-Oncology & Bone Marrow Transplant (Unit II), and the bone marrow transplant team. The child subsequently underwent a haploidentical stem cell transplant using a modified conditioning regimen along with post-transplant cyclophosphamide. Through meticulous planning, coordinated transplant care, and intensive postoperative monitoring, the team achieved successful engraftment with complete donor chimerism by day 30.
The patient’s post-transplant recovery remained stable, with healthy blood cell production recovering within 12 to 14 days and no major transplant-related complications observed. Over the following weeks, he continued to show steady clinical improvement, marking a significant milestone in the management of this exceptionally rare genetic disorder in India.
