Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy |
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| Authors: | Hermann J Girschick Etienne Mornet Meinrad Beer Monika Warmuth-Metz Peter Schneider |
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| Affiliation: | 1.Children's Hospital, University of Würzburg,Germany;2.Université de Versailles, Saint Quentin en Yvelines Batiment Fermat Versailles Cedex,France;3.Dept. of Radiology, Section of Pediatric Radiology,University of Würzburg,Germany;4.Dept. of Radiology, Section of Neuroradiology,University of Würzburg,Germany;5.Clinic for Nuclear Medicine, University of Würzburg,Germany |
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| Abstract: | Background Hypophosphatasia (HP) is characterized by a genetic defect in the tissue-nonspecific alkaline phosphatase (TNSALP) gene and predominantly an autosomal recessive trait. HP patients suffer from reduced bone mineralization. Biochemically, elevated concentrations of substrates of TNSALP, including pyridoxal-5'-phosphate and inorganic pyrophosphate occur in serum, tissues and urine. The latter has been associated with chronic inflammation and hyperprostaglandinism. |
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