She had a history of stuffy nose, cough, and recurrent chest infection from 1 month of age. She had left hip dislocation at 1 ½ months of age followed by right hip dislocation after 2 weeks. The hip dislocation was managed with splints by an orthopaedic surgeon. In November 2022, during her workup for recurrent hip dislocation, her X-ray showed diffuse sclerosis of bones with “bone within bone appearance” suggestive of Osteopetrosis.

She was referred to AFBMTC in November 2022 for Bone marrow transplant. Her genetic testing from Invitae diagnostic center, USA showed homozygous TNFRSF11A gene consistent with the diagnosis of Infantile Osteopetrosis.

On examination, she had rotatory nystagmus, nasal congestion and increased head size. She had facial recognition, could speak few words and was able to walk with support. The systemic examination was unremarkable.

She was fully HLA-matched with her elder sister (Bibi Laila) with no ABO mismatch.

She was transplanted on 18/08/2023 with Flu¹⁵⁰,BU^IV used as conditioning protocol.

Post-transplant period was unremarkable. Neutrophil engraftment was achieved on Day+14. The patient was discharged after her neutrophil recovery and was advised weekly follow up in OPD. Platelet engraftment was achieved on Day+28.