Mceniery Jane,  Corness Jonathan,  Chyi Alexander

Final Pr. ID: Poster #: EDU-113

To review the imaging appearance of the skull in hypophasphatasia (HPP). This pictorial review includes the serial imaging appearances, commencing from diagnosis, and throughout treatment with enzyme replacement therapy (ERT). The development of craniosynostosis is shown, as is the post surgical appearance following total cranial vault remodelling. Read More

Authors:  Mceniery Jane , Corness Jonathan , Chyi Alexander

Keywords:  Hypophosphatasia, Skull, craniosynostosis

Parikh Ashishkumar,  Luo Yu,  Spottswood Stephanie

Final Pr. ID: Poster #: CR-036

First described by Rathbun in 1948, hypophosphatasia is an inherited metabolic disorder arising from the deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. There are several different types and varying clinical presentations of hypophosphatasia, characterized according to their age of onset by Fraser in 1957. In addition, the severity of the radiographic findings is inversely correlated with the age of presentation, with older patients presenting with less severe forms of the disease. Classically, the radiographic findings resemble rickets/osteomalacia, but in the presence of normal Vitamin D metabolism. Additional findings associated with hypophosphatasia are Bowdler spurs, which are transverse bony spurs in the radius, fibula and ulna and central lucencies or “punched out” lesions in the metaphysis, particularly of the knee (Case 1). In this case series of 3 patients, these characteristic radiographic features as depicted on skeletal surveys, along with their clinical manifestations, diagnostic criteria, management, treatment, and prognosis will be discussed. In particular, the evolution of radiographic changes with treatment in one patient will be assessed (Case 2). Read More

Authors:  Parikh Ashishkumar , Luo Yu , Spottswood Stephanie

Keywords:  hypophosphatasia, skeletal dysplasia, phosphate, hypophosphatemia, Bowdler

Mcalister William,  Fujita Kenji,  Moseley Scott,  Thompson David,  Whyte Michael

Final Pr. ID: Poster #: SCI-039

Hypophosphatasia (HPP) is the rare inherited metabolic bone disease caused by loss-of-function mutations in the tissue nonspecific alkaline phosphatase (TNSALP) gene. Resultant TNSALP deficiency leads to extracellular excess of inorganic pyrophosphate, an inhibitor of bone mineralization. Rickets in infants and children has distinctive radiographic features. Here, we report the validity and reproducibility of a novel scoring system to quantify HPP-specific radiographic changes in pediatric patients (pts). Read More

Authors:  Mcalister William , Fujita Kenji , Moseley Scott , Thompson David , Whyte Michael

Keywords:  Hypophosphatasia