Abstract

Hypophosphatasia (HPP) is a congenital disorder with decreased activity of tissue-nonspecific alkaline phosphatase. Asfotase alfa is the only treatment approved for HPP and improves the impairment of bone mineralization. Although several previous studies have reported the efficacy of asfotase alfa to treat fractures and pseudofractures in patients with HPP, there are only a few reports with a detailed description of the healing process. In this case report, we present an 18-year-old female patient with benign prenatal HPP who received asfotase alfa to treat her pseudofracture. At the age of 17, a pseudofracture developed in her left tibia after repetitive gymnastic exercise for months. Following observation over a year, she was referred to our department. X-ray images indicated a narrow radiolucent band in the mid-diaphysis of her left tibia, and bone scintigraphy showed nuclide accumulation in the same region. Replacement therapy with asfotase alfa was started, resulting in pain relief in two months, and the disappearance of nuclide accumulation on bone scintigraphy and union of the pseudofracture on X-ray after two years. This is the first case report describing the detailed pseudofracture healing process in a patient with benign prenatal HPP initiating asfotase alfa.

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