We report on a 43-year-old patient with short stature (hyposomia), allegedly the result of
vitamin-D-resistant rickets, previously treated for
ankylosing spondylitis. In addition, a uricostatic
drug therapy was also necessary because of
hyperuricemia with
gout attacks. Further examinations revealed the accurate diagnosis: Rathbun's disease.
Hypophosphatasia is a hereditary disorder characterized by a deficiency of liver/bone/kidney
alkaline phosphatase activity in serum and tissues with defective bone mineralization, bone
deformities, short stature, early loss of teeth, and
craniosynostosis. In our patient radiographic features were spinal
hyperostosis, but with syndesmophytes,
chondrocalcinosis of peripheral joints and intervertebral discs, calcific
periarthritis and premature closure of skull
sutures. Curved ribs and short stature were suggestive of
rickets. The aim of this case report is to demonstrate the close relations between
hypophosphatasia and
spondylitis ankylosans in respect to radiology and clinical symptoms.