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1、OSTEOGENESISIMPERFECTAWITHHYPERCALCEMIA-ACASEPRESENTATION25thFebruary2000內分泌新陳代謝科楊純宜醫師1.Generaldata:Name:胡X爵先生ChartNo:19728495Sex:MaleAge32Y/OMarriage:not-marriedDateofadmission:89-1-4Dateofdischarge:89-1-112.Chiefcomplaint:Painlesshematuria&urinaryretention&chesttigh
2、tnessfor1week.3.Presentillness:Avictimofcongenitalosteogenesisimperfectaanddiagnosedsinceage4duetoeasybonyfractureandbonyfragility.Patientwaswellwhenhewasbornandnotedofsuddenbonyfractureatage4whenheplayingoutsidewithhisfriend.HehadbeenadmittedatCGMH-Taipei(Lin-Kao)inA
3、pril1983duetofibrousdysplasiaorachondroplasiawithpathologicalfracture.In1992CGMHOPDfollowup.In1992CGMH-Kaohsiungdiagnosedofosteogenicsarcoma.In1995FebadmittedatCKUHduetohematuriaandhypercalcemia(Calcium19.1,HTN),then,transfertoCGMH-Taipeiforadmissionfrom24thFebto2ndMa
4、rch1995.Adrenalinsufficiency,hyperuricemia,hypercalcemia,andosteogenesisimperfectawerediagnosed.Wholebodybonescan(Tc-99mMDP)-compatiblewithOI.BenceJonesprotein(-)Testosterone0.30(2.79-8.76ng/mL),I-PTH24.9(10-65pg/mL)Cortisol:10.5ug/dL(8-28)1995-1997irregularlyfollowup
5、atCGMH-TaipeiOPDwithAllopurinol+DitopaxTx.Thistime,hesufferedfrompainlessgrosshematuriaandurinaryretentionandanteriorchesttightnessforoneweek.HewassenttoourSERforhelpandwasadmittedtoGUsection.4.Pastandpersonalhistory:Nofamilyhistoryofosteogenesisimperfectanotedinother
6、membersofthefamily.Hewasdiagnosedofosteofibromasinceage4-years-old.HehadbeenadmittedatCGMH-Taipeiin1983and1995.HehadbeenadmittedatCKUHin1995duetohematuriaandmalignanthypercalcemia.Noothersystemicillnesscanbetraced.Noallergichistory.Nocigarettesmokingandalcoholicdrinki
7、nghistory.5.Physicalexamination:Vitalsigns:BP:110/70mmHg,BT:37C,PR:101/min,RR:20/minGeneralappearance:ageneralizeddeformitymanwithsmallfigure,withbigbutsoftheadandasym-metricalchangeofeyeandlow-setnoseandirregularly–arrangedteeth,shorttrunkwithpigeon-chest,concavedabd
8、omen,bowingchangeofbothlegs,healsohadcardiovascularandpulmonaryembarrasement.Skin:dryturgor,yellowishpigmentationConsciousne
