兒科英文病例3個

兒科英文病例Case1HistoryA6-year-oldboywhomyouhaveneverseenbeforeisbroughtinforevaluationduetodifficultyatschool.Thechild'steacherrecommendedthathebeevaluatedforalearningdisorder,ashehasfailedtograspmaterialtaughtinclass.Theparentsstatethattheirsonhasalwaysseemed"slower"thantheirothertwochildren,buttheyassumedhewasa"latebloomer."Birthhistoryisunremarkable,andthemotherreportsnoproblemsduringherpregnancy.Theparentsdescribethechildashappyandhealthyotherwise,withnosignificantpastmedicalhistory.Theymentionthattheirpriorpediatricianwantedtohavetheboytestedfordevelopmentaldelay,buttheyrefused,notwantingtoputpressureonhim.Theparentsareunawareofanyfamilyhistoryoflearningdisorders.ExamT:98.1°FBP:102/62(normal)RR:14/min.P:86/min.Thechildisalertandplayful.Hisheightandweightarenormalforhisage.Hismotorfunctioniswithinnormallimitsforhisage,thoughhehasdifficultyfollowingmorecomplexcommands,andhisverbalintelligenceissomewhatlowforhisage.Physicalexamrevealsnoobviousabnormalities.Yourecommendformalintelligencetesting,towhichtheparentsagree.TestsHemoglobin:12g/dL(normal11-13)Whitebloodcellcount:9100/pL(normal5000-14,000)Creatinine:0.5mg/dL(normal0.4-0.8)Thyroid-stimulatinghormone:2.2pU/mL(normal0.5-3.0)OnstandardIQtesting,thechildisfoundtohavetheintellectuallevelofa4-year-old.ConditionMentalretardation,mildTheIQtestrevealsanIQof66,obtainedbytheformula:(mental[intellectual]age/chronologicalage)x100.PathophysiologyThelargemajority(85%)ofcasesofmentalretardation(MR)aremild(definedbyanIQbetween55and70)andidiopathic.Incidenceismorecommoninmalesandinthoseoflowersocioeconomicstatus.Incaseswhereanetiologycanbedetermined,Downsyndromeisthemostcommoncause,whilefetalalcoholsyndromeisthemostcommonpreventablecause.FragileXsyndrome,seeninboys,isanothercommoncauseofMR.Othercausesincludecerebralpalsy,infections(e.g.,TORCHinfections),toxinexposure(e.g.,lead),cerebraldysgenesis,otherchromosomalabnormalities,autism,andmetabolicdisorders.(Note:TORCH=toxoplasmosis,other[congenitalsyphilisandviruses],rubella,cytomegalovirus,andherpessimplexvirus.)Diagnosis&TreatmentWheneverdevelopmentaldelayisaconcern,thepatternofabnormalitiesovertimeisbetterthananysinglemeasurement.Remember,too,thatassessmentofmilestonesshouldtakeintoaccountprematurityduringthefirst1-2yearsoflife(e.g.,ifthechildwasborn3monthsprematureandis9monthsoldnow,he/sheisexpectedtoperformata6-month-oldlevel,because9monthsold-3monthspremature=6-month-oldfunctioning).Anorganiccauseismuchmorelikelytobefoundinmoderate(IQ35-55)andsevere(IQ<35)MRthaninmildMR.MRmustalsobedistinguishedfromisolatedlearningdisorders(e.g.,dyslexia,mathematicslearningdisorder).Screeningiswithhistoryandphysicalexam,withspecificverbaland/ormotortestingperformedifdeemednecessary.InmoderateandsevereMR,chromosomaltestingandMRIofthebrainarecommonlyperformed;thesearenotroutinelyusedformildMRintheabsenceofotherfindings(e.g.,otherphysicalanomalies,familyhistory).Inthesettingofpoorschoolperformance,don'tforgetlessexoticcausessuchashearing/visiondifficulties,abuse/neglect,attention-deficithyperactivitydisorder,hypothyroidism,andpsychiatricdisorders.Screeningleadlevelsmayalsobeappropriate.Avoidusinglabelswiththeparents(e.g.,"Yourchildismentallyretarded").InstitutesupportivemeasuresonceMRisconfirmed,suchasspecialeducationreferralandparentalcounseling.Morehigh-yieldfactsFragileXsyndrome=males(X-linkedrecessive,thoughfemalecarriersmaymanifestmilderbehavioralandintellectualabnormalities)withenlargedtestes(macro-orchidism)andfacialdysmorphism(longface;prominentjaw;large,protrudingears).Case2HistoryA10-year-oldboypresentswithexcessiveweightgain.Hisfathersaysthechildisotherwisehealthy,butseemstohavegainedalotofweightoverthelastfewyears;thefatherwondersifhemighthavesometypeofmedicalconditioncausingtheweightgain.Hissonhasalwaysbeen"ontheheavyside,"butthefatherassumedhewouldgrowoutofitashegrewtaller.Thefatherdeniesanyothersymptomsintheboyandsayshehasagoodappetite.Thechildtakesnomedicationsandhasnoothermedicalproblems.Familyhistoryisnotablefordiabetes,hypertension,andobesity,allofwhicharepresentinthechild'sfather.ExamT:98.6°FBP:120/80RR:14/min.P:88/min.Theboyisalert,responsive,andinnoacutedistress.Hisheightisatthe58thpercentileforage,andhisweightisatthe97thpercentileforage.Younotenoskinabnormalities,andtheheadandneckexaminationisunremarkable.Hischestiscleartoauscultation,andhisabdomenisnormalexceptforobesity.Thechildhasgoodmuscletoneandstrength,withnoneurologicdeficitsapparent.SexualdevelopmentisTannerstageII.TestsHemoglobin:12g/dL(normal11-14)Sodium:140meq/L(normal135-145)Potassium:4.0meq/L(normal3.5-5.0)Creatinine:1.0mg/dL(normal0.6-1.0)Glucose:102mg/dL(normalfasting60-105)Thyroid-stimulatinghormone:2.5mU/L(normal0.4-5.0)ConditionObesityPathophysiologyLessthan5%ofcasesofobesityareduetoanunderlyingorganicetiology(thoughmanyparentswillwantyoutonameoneforthem).Theremainderofcasesareduetobothgeneticandenvironmentalfactors(i.e.,multifactorial).YourjobonStep2istoavoidextensivework-upsinmostchildren,whilerecognizinga"zebra"causeofobesityifonecomesalong.Organiccausesofobesityincludehypothyroidism,Cushingsyndrome,insulinoma,centralnervoussystemdamagefromtrauma,tumororinfection,andrarecongenitalsyndromessuchasPrader-Willisyndrome.Diagnosis&TreatmentObesitycanbedefinedbyseveralmethods.Aneasyonetouseisaweight>95thpercentileforage/sexnorms,thoughthisfailstotakeintoaccountdifferencesinheightandbodycomposition.A"weightforheight"indexalsocanbeused(>95thpercentileforage/sex),ascanasubcutaneousfatthickness(skinfolds)measurement(>85thpercentileforage/sex)orbodymassindex.Followingthegrowthcurveorhistoryovertimeisanimportantmeanstodetectanorganiccauseofobesity.Whenthecauseisorganic,patientsusuallyhavebelow-normalheightandpreviouslyhadanormalweightwithasuddenchangeinthegrowthpattern.Inaddition,othersignsareusuallypresent,suchassignsofhypothyroidism,Cushing's,mentalretardation,and/orneurologicdeficits.Thelargemajorityofkidshavenon-organiccausesofobesity,andhaveanormalorabove-averageheightandafairlystablepatternofgrowth(i.e.,obesity)overtime.Intheabsenceofasuspicioushistoryorphysicalfindings,anon-organicetiologyisalmostguaranteed.SomerecommendascreeningTSHlevelinallobesechildren,askidsarelesslikelytohaveclassichypothyroidismsigns/symptoms.Ifgiventheoption,screenforhypertension.Diabetesandcholesterolscreeningmaybeindicatedinchildrenwithsuggestivepersonalorfamilyhistories(remember,typeIIdiabetesisreachingepidemicproportionsinthepediatricagegroup-a"hot"topic).Inthiscase,itwouldbereasonabletoorderaglucosetolerancetest.Treatment,asinadults,iscomplex.Starvationdietsandmedicationsshouldbeavoided.Ahealthy,balanceddietandexercisearethebestrecommendations.Morehigh-yieldfactsInchildren,obesityincreasestheriskofhypertension,diabetes,hyperlipidemia,andorthopedicproblems,suchasslippedcapitalfemoralepiphyses.Thelongerchildrenareobese,themorelikelytheyaretobeobeseasadults.Case3HistoryYouarecalledtoseeaninfantinthenewbornnursery1hourafterdeliveryforseizure-likeactivity.Thechildwasbornattermtoaprimiparouswomanwithnoprenatalcarewhoneededacesareansectionforfailuretoprogress.Heweighed10pounds5ounces(4680grams)atbirthandhadAPGARscoresof7and9atoneandfiveminutes,respectively.Hismother,anobese29-year-old,reportednodifficultiesduringthepregnancyatthetimeshepresentedfordelivery.ExamT:95.1°FBP:86/54(normal)RR:22/min.P:174/min.(normal100-160)Themacrosomicchildislethargic,andyounotethathehasaplethoricappearancewithroundfacies.Headandneckexaminationisunremarkable,andnoscleralicterusisevident.Hischestiscleartoauscultation,withmildtachypneaandtachycardianoted.Abdominalexamisunremarkable.Noskinorextremityabnormalitiesaredetected.Nofocalneurologicdeficitsareappreciated.Nophysicalanomaliesaredetected.TestsHemoglobin:22g/dL(normal17-22)Sodium:141meq/L(normal135-145)Potassium:4.1meq/L(normal3.5-5)Creatinine:0.9mg/dL(normal0.6-1.1)pH:7.3(normal7.2-7.5)pO2：72mmHg(normal55-80)ConditionHypoglycemicinfantofadiabeticmother(IDM)PathophysiologyHypoglycemiaisacommoneventinIDMs,duetofetalisletcellhypertrophyinuterosecondarytomaternal,andthusfetal,hyperglycemia.Afterbirth,whenthematernalsourceofglucoseisremoved,thehypertrophiedisletcells(betacells)continuetoproduceinsulin,resultinginneonatalhypoglycemiashortlyafterbirth.OtherproblemsseenmorefrequentlyinIDMsthanotherinfantsinclude:macrosomia(>4000gramsorroughly9pounds),cesareansectionandbirthtrauma,respiratorydistresssyndrome,polycythemia,hypoxia,hyperbilirubinemia,hypocalcemia,persistentpulmonaryhypertension,andcongenitalmalformations(e.g.,cardiac,centralnervoussystem,musculoskeletal).Tightcontrolofmaternalglucoselevelsduringpregnancyreducestheriskofallthesecomplications(includingmacrosomia).HemoglobinA1clevelsduringthefirsttrimesterhavebeenpositivelycorrelatedwiththeriskofcongenitalanomalies.Diagnosis&TreatmentMacrosomiaisduetomaternaldiabetesuntilprovenotherwise.IDMsareoftenplethoric(duetopolycythemia)andh