Description

A 5-year-old boy, born to first-degree consanguineous parents, presented with failure to thrive, recurrent respiratory infections and progressive head deformity since birth, with recent difficulty in walking. Physical examination revealed pallor, scaphocephaly and hepatosplenomegaly. Haemoglobin, leucocyte and platelet counts were 5 g/dL, 4300/mm³ and 100 000/mm³, respectively. Skeletal survey demonstrated thickened, densely sclerotic bones with loss of medullary space. A diagnosis of autosomal recessive osteopetrosis (AROP) was made.

Non-contrast CT of the head showed diffuse hyperostosis of skull bones with narrowing of bilateral optic canals and skull base foramina (figure 1A). The sagittal suture could not be identified (premature fusion) and the skull was scaphoid shaped (increased anteroposterior diameter; figure 1B). There was extensive thickening and calcification of the falx cerebri and tentorium cerebelli (figure 2 …