Abeeha presented at 8^th day of life with an episode of seizures. She was managed with anti-epileptics and calcium supplementation. During workup for hypocalcaemia, her X-ray femur showed; increased bone density and bone within a bone appearance, consistent with Infantile Osteopetrosis.

She was referred to AFBMTC in November 2023 for Bone marrow transplant. Her genetic testing from Invitae Diagnostic Center, USA showed a homozygous TCIRG1 gene mutation confirming the diagnosis of infantile Osteopetrosis. She was fully HLA-matched with her elder sister (Arfa) with no ABO mismatch.

During pre-transplant workup she again had an episode of seizure for which oral anti-epileptic Levetiracetam was started. MRI brain showed mild frontotemporal and right occipital atrophy with no space occupying the lesion.

She had a visual impairment as she could not recognize her parents or follow object. She was holding her neck but not able to sit without support.

Abeeha was transplanted on 2/4/2024 with Flu¹⁵⁰,BU^IV used as conditioning protocol.

Post-transplant period was unremarkable. Neutrophil engraftment was achieved on Day+13. The patient was discharged after her neutrophil recovery and was advised weekly follow up in OPD