Automated detection and quantification of bone disorganization in hypophosphatasia before and after asfotase alfa: A case report

Conventional imaging poorly captures bone disorganization, a pathological feature of hypophosphatasia (HPP). This single-patient case report applied ALIGNOGRAM to previously published open-access distal radius radiographs from a 16-year-old with severe HPP before and after six months of asfotase alfa. It detected overt, subtle, and covert lesions and quantified reduced lesion burden post-treatment. Residual disorganization persisted. These findings support preliminary technical feasibility, with independent validation in larger prospective cohorts required to establish diagnostic and treatment-response validity.