Hypophosphatasia



- Discussion:
    - rare form of rickets which is often hereditary (autosomal recessive);
    - characterized by reduction in alkaline phosphatase;
    - premature loss of teeth is common in children and adults;
    - skeletal changes:
           - may present in infants, children, or may be delayed until adulthood;
           - radiographs show an excessive amount of unmemeralized osteoid tissue (similar to rickets);
    - infants:
           - hypercalcemia may occur;
                 - this often needs to be treated w/ calcium chealing agents or renal dialysis;
           - functional craniosynostosis may raise intracranial pressure;
           - early mortality may be as high as 50%;
    - children:
           - short sature and frontal bossing is common;
           - calcium and phosphate levels are usually normal;
           - on radiographs, look for radiolucent tongues extending from the growth plates into the metaphysis;
    - adults:
           - femoral pseudofractures and chondrocalcinosis is common;
           - calcium and phosphate levels are usually normal



Original Text by Clifford R. Wheeless, III, MD.

Last updated by Data Trace Staff on Wednesday, September 5, 2012 8:19 pm