The radiological manifestation of hypophosphatasia / 中华放射学杂志

ABSTRACT

ObjectiveTo explore the radiological features of hypophosphatasia.MethodsFive cases of hypophosphatasia were definitely diagnosed,which included 3 males and 2 females aged from 5 months to 23 years.The laboratory assays were analyzed,radiological appearances of bone were determined and differential diagnoses were made.ResultsThe alkaline phosphatase in blood serum of five patients decreased,which were 8,20,13,21,and 18 U/L respectively.Phosphoethanolamine increased in blood serum of the five patients,which were 16.5,13.5,21.6,18.7,and 28.9 μmol/L respectively.Phosphoethanolamine also increased in urine,which were 2350,9120,3520,5280,and 1820 μmol/L respectively.Calcium in blood serum increased,which were 4.2,5.6,4.9,6.1,and 3.5 mmol/L respectively.X-ray images displayed that the density of bone decreased in 5 cases,the metaphyses exhibited widening and cupping in 4 cases,the provisional calcification zone of the metaphysis became thinning or disappearing in 4 cases,long bone bended in 4 cases and pathologically fractured in 1 case.Conclusion Hypophosphatasia can be indicated by its relatively special radiological appearance,and it can be diagnosed and differentiated from rickets,osteomalacia and osteogenesis imperfect by the laboratory examination combined with its clinical presentation.