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OverthelastfewdaysIhavebeenstudyingSanjaySharma'sbookandhavesummarisedthetopics
whichIfounddifficult.Hopefullyitmightbeofhelptoothersduringtheirrevision.
SanjaySharmarevision(questionnumbersinbrackets)
====================================
1.(8)RUQpain,fever,jaundice>ascendingcholangitis.canoccurevenaftercholecsytectomy.Inv.
bloodcultures(E.coli),U/Stoexcludeabscess.liverbiosyshouldneverbe1sttestforjaundiceand
fever.
2.(10)HistiocytosisX:manifestationsareduetohistiocytomas24yrs,M>F.lungfibrosisandCOPD,
boneinfiltration(espskull),proptosis,deafness,hepatosplenomegally,lymphadenopathy,diabetes
insipidus(pituitryinfiltration).Dxbyhistology(smallroundcells).Rxsteroids,occasionallyvincritine.
occasionalspontaneousregression.
3.(12)flowvolumeloop:URTobstructiondecreasedinspiratoryflow.
4.(12,39)leucoerrythroblasticbloodfilm:immsturegranulocytes,normoblastsCauses:marrowinfiltration
(includingmsrblebonedx,myelosclerosis,storagediseaseslikeGucher'slargewhitefilledcells),severe
infection(leaukaemoiddohlebodies,toxicgranulations).Differentiaitebypresenceof
hepatosplenomegallyorlymhadenopathyandabsenseofleftshift).
5.(14)incCa,incBP,palpitations,goitre>MEN2=thyroidCcellCarcinoma,parathyroidadenoma,
phaeochromocytoma.Retoncogene(chr10).calcitoninelevated.Relativesneedregularscreening.
6.(15)echoesofmitralvalveprolapse(posteriormotionofmitralvalveinsystole)andatrialmyxoma
(obliterationofmitralvalveorifice)
7.(16)sicklecelldisease:hyposplenismmeansencapsulatedbacterialinfection,chroniclowgrade
haemolysis>pigmentgallstones
8.(17)antiphosholipidsyndromefalsepositiveVDRL,recurrentthrombosis/miscarriage,invitro
prolongedclotting>RAISEDAPTT+/PT,doesnotcorrectwithadditionofnormalplasmaduetolupus
anticoagulant.Rxprophylacticanticoagulants.Assoclivedoreticularis(conntissdisorders),pulm
hypertension,cerebralproblems,valvularheartdisease,lowplt.
9.(18)alkapatonuriaautrechomogentesicoxidasedeficiency.Urinedarkensonstanding,ochronosis
(pigmentedcartilage,conntissuee.g.Ears,joints).Prematurearthritis.Xray>intervertabraldisk
calcificationandaorta.Rxlowproteindiet,poorlyaffective.
10.(27)echordiography:mitralvalvelesions
11.(28)porphyriacutaneatardaliverdisease,skinrash(hands,head).Uroporphyrindecarboxylase
deficiency.XSuroporphyrin>photosensitiveblisteringrash(PASstaining),cirrhosis.Precipitantsare
enzymeinducers:alcohol,anticonvulsants,oestrogens.Thereisoftensecondaryhaemaochromatosis,
secondarypolycythemia.Rx>alcoholabstainence,avoidsunexposure,venesectifHb>12.Chloroquin
bindsuroporphyrin.Endproductblockediscorporoporphyrin.
12.(30)purple=positivegramstain.(itwentPositivelyPurplewithpleasure).Pink=negative.
GPCocci=Strep/Staph.Gndiplococci=Neisseria,GNrods=Haemophilus.TB=ZNred.
13.(31)precipitantsofHONKXSsugarydrinks,infection,thiazides,steroids,MI.Ifhypernatraemicuse
0.45%NSaline,halfstrengthslidingscale,DVTprophylaxis.Decreaseosmolalitygradually.Treat
underlyingcause.
14.(32)geneticpedigrees.1.lookattransmissionnomaletomale=Xlinked,2.femaletomale/female
onlythenmitochondrial.
15.(32)alportssyndrome:xlinkeddominant:renalfailureinmales(femaleshaematuria),senorineural
deafness,ocularabnormailities(myopia,cataract,retinitispigmentosaseepic).Postrenal
transplantationantiGBMdiseasebecauseoriginaldefectwastype4collageninGBM(goodpasture
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antigen).
16.(34)complicationsofnephroticsyndrome:portalveinthrombosis(abnormallfts)diagnosebyUS,
venographyRx.Thrombolysis
17.(40,123)ChronicActivehepatitisrisk:oldbloodtransfusion,highriskprofession.Usually
asymptomatic,chronicprogressive.Causes:HepB(eAgpresent)andHepC(antiHCAb's)alsoSLE,
LKM,methyldopa,isoniazid,antytipsin,Wilsons,UC).AST,BRelevated>>ALP.Piecemealnecrosis.Rx.
IvIFN,success30%,oftenrelapse.considerHIVscreening.
18.(41)Cardiaccathetervalues1.lookforunusualpressuresandsaturations,2.lookforgradients
acrosspulmonaryandaorticvalves.mitralvalvediseasereflectedinPCWP.
19.(44)Acuteintermittentporphyriaautdom,Chr11PBGdeaminasedeficiency.5F>M.Increased
dALAandPBGbloodandurine.gastroandneurosequelae,(skinmanifestationsrarecfPCT).
Precipitants:drugs(barbiturates,anticonvulsants),alcohol,fasting,sepsis,OCP.Presentsasacute
abdominalabdomen(canmimicsurgicalabdomenbutAXRnormal).Neuropathy/ANSexcitation/motor
paralysisincludingCN's,epilepsy,hyponatraemia(SIADH).Rx1.withdrawprecipitant,2.high
carbohydratediet/ivdextrose(reduceshaemprecursorsinbloodbyreducingALAsythetaseactivity),3.
haematiniv,4.opiateanalgesia.Avoidmetoclopramide(anotherprecipitant),Bblockersfortachy.
Epilepsy:calories,fluidrestriction(incNa),chlormethiazoleordiazepam(mostotheranticonvulsantsare
preciptants).Tests:erlichsdye>red(alsojaundice)PLUSchloroform>purplesedimnt(porhyria).clear
(bilirubin).(WatsonScwarztest).Levelselevatedinattackbutmaybenormalwhenwell.Canassayred
cellPBGdeaminase(low),ALAdehydrogenase(high).
20.(51)Causesoferythemamultiforme.Infection(mycoplasma,HSV,orf,TB),drugs(penicillin,barbs,
sulphonamides),other(conntissdx,vasculitis,internalmalignancy)
21.(52)Hereditoryangioedema(c1esteraseinhibitordeficiency)autdom.Attacksprecededbypainful
macularrash.precipitants:trauma.Laryngealoedema,abdominalpain.Normallrxsupportiverespondsin
72hours.CangiveFFPifsevere/protracted.Longtermrx.Danazol(inhibitsplasmin)
Hydrocortisone/chlorpheniraminelesseffectivecf.anaphylaxis.DiagnosisC1esteraseinhibitor(low),c1
esterase(high),c2&c4bothlow.
22.(57)Aorticdissection:proximal>urgentsurgery.Seenclearlyon2Decho.Importanttoexclude
beforethrombolysinganyMI.assoc.hypertensiveblacks,Marfans,EhrlerDanlos,pregnancy,
coarctation.
23.(58)Scurvy:elderly,normocyticanaemia,bruising(haematomas),prolongedbleedingtime>always
thinkofvitCdeficiency.Easybruising,bleedinggums,periostealhaemmorhage,musclehaematomas.
Classic:perifolicularhaemorhage,corkscrewhairs.APTT/PTnormal,BTincreased.Dxbypltorleucocyte
ascorbateconcentration.Rx.VitC.
24.(71)livedoreticularis:assocvasculitisandconntissdiseasee.g.PAN
25.(71)polyarteritisnodosamales6070myalgia,nightsweats,weightloss,livedoreticularis,testicular
pain,assocHbsAg.Multisystem(neuro,gi,renal,cvs),aneuysm>thrombosis>organinfarction.dx.
ANCAsuggestive,organbiopsy,microaneurysmsonangiography.Rx.Steroids.
26.(72)Heinzbodies:lowHb,highreticcount>bleedorhaemolysis.Differentiatebybloodfilm>Hz
bodies(pptdHb)seeninHbopathiesormetHbaemia(Fe3+)e.g.SulphasalasineRxespifG6PD
deficiency.CfHowellJollybodies,cf.Malariabloodfilms(canbeconfused)
27.(74)Apicallungfubrosis:TB,EAA,ankylosingspondylitis,apergillosis,radiation,sarcoidosis,
histoicytosisX.
28.(76)Familialbenignhypocalciuruchypercalcaemiaautdom.Usuallylifelongasymptomatic
hypercalcaemiaoccasionalgallstones/pancreatitis/jointdeposition.Difficulttodistinguishbetween1ry
PTHismsopatientsoftenhaveuneccesaryparathyroidectomyandFHparathyroidectmy.Candistgiuish
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becauseurinarycalciumisLOW(itishighinallothercausesofhypercalcaemia).Conservative
management.
29.(77)Eruptivexanthomas:thinkhypertriglyceridaemia(associatedwithpancreaitis).Thereis
pseudohyponatreamiaduetolipidsbindingNathefreesodiumonlyisnormallymeasured.Can
differentiatebylookingatserumosmolality.
30.(84)WolfParkinsonWhitesyndrome:accessoryfastconductingatrioventricularpathway(Bundleof
Kent).Ventriclesdepolariseprematurely>shortPR,slurred(deltawave)upstrokeofQRS.2arrythmias
possible:AVreentranttachycardia(PburriedAFTERQRSRx.Vagalstim,adenosine),AF(deltawaves
sometimesseenRxadenosine,vagalstimusuallyfails).2ndline>cardioversion.Definitive
managementradiofrequesncyablation.PreventionwithclassI/III
(sotalol,flecainide,amiodarone,disopyramide).Avoiddigoxinandverapamilastheyincreaseaccessory
pathwayconductionpredisposingtomalignantventriculararrythmias.
31.(87)PolycythemiarubraveraHbcanbenormalifcoexistingFedeficiencyanaemia(lowMCV),look
atPCVandrbccounttomakethediagnosis.Allmarrowcellsincreased(wcc,plt)andsplenomegally.
Incidiousonsetassoclethargy,depression,vertigo,tinnitus,amaurosisfugax.Plethora,hypertension,
spenomegally.Bledding(usuallyupperGI)duetothrobocythaemia,stroke(hyperviscocity),gout
(increasedcelltunover).CanprogresstomyelofibrosisorAML.Rx.Venesection(cancausefedef
anaemia).Busuphanandhydroxyureatocontrolthrombocytosis.
32.(91)Hypokalaemicperiodicparalysisautdom,episodicparalysisclassicallywhilepatientasleepor
withprolongedrest.Pptbydextroseandinsulin,alcohol,cho,anxiety,tension.RxcangiveK
supplementsorlongetermKsparingduiretics.Associatedwithorientalswiththyrotoxicosis.Hypokalaemic
arrythmias.Rxofthyrotoxicosispreventsparalysistoo,propranololalsoworks.Onlyaffectsmales.Need
toexcludeGBSormyastheniagravis.
33.(94)Schmidtzsyndrome(polyendocrinedeficiencytypeII)10%ofaddisonspientshaveother
endocrineabnormailiestooautoimmunehypothyroidismandIDDM.TypeIPED=parathyroid,adrenal,
candida,alopecia,pernicousanaemia.Vitiligoandhypogonadismoccurinboth.Hypothyroidismcan
cuasealargeheart.
34.(97)Leprospirosis(ratfaeces)liverfailurecommon,renalfailurecanalsooccur.Brucellosis
(unpasteurisedcowsmilk)liverfailurerare,assochepatosplenomegally,highfeverandleucopenia.
35.(98)AtrialenlargementonECG.Ratrium=tallPII,V1>2.5smallsquarestall.Latrium=bifidPinII
>3smallsquareswide,V1negativeportionpwave>1smallsquaredurationANDamplitude.
36.(98)Sokolow'scriteriaforventricularhypertrophylookatV1adV5/6:Rightventricle>12.5mm.Left
ventricle>40mm.LVHshowsmoretowardV6,RVHinV1.
37.(101)HIVinfections:oralhairyleucoplakia(H=EBCinfection)whiteplaquesonthelateralborderof
tongueRx.Acyclovircfcandidarx.Nystatin,flucanazole.CrypotosporidiumdiarroheaZNstainofstool
>redcysts.Rx.Symptomtic+spiramycin/paromomycin.
38.(103)SLEarthropathy,fever,polyserositis.10F:1M,blacks,usully<40yrs.Multisysteminvolvement:
renal,resp,CVS,neuro,haematologic,cutaneous.DsDNApositivein60%,ANAin90%.ESRusually
high,CRPcharacteristicallynormal.C3depressed.Lupusanticoagulant.Rx.NSAIDs(joints),chloroquine
(skin),corticsteroids,azathioprine,cyclophosphamide.
39.(103)coxsackievirusA/Bepidemicmyalgia(Borholm'ssyndrome)usuallychildren/youngadulys.
Suddenabdo/thoracicpain.Myalgia,fever.Polyserositis.Virusinfaeces,retrospectivediagnosisby
serumantibodyx4rise.
40.(107)GuillainBarresyndromeonsetoftenheraldedbySEVERElumbarorintrascapularpain.Ans
neuropathye.g.Bladderatony.Csfalbuminocytogenicdissociation.Rx.IvIg.Poorprognsticmarkers:
FVC<1litre,paO2<8,paco2>6,LRTI,polmoedema,acceleratedhypertension,arrythmia,bulbar
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involvement,campylobacterinfection.
41.(110)Homocytinuriacystathioninedeficiency,autrecessive,chr21>homocysteineaccumulation
>oxidisedtohomocystine(elevatedurinelevels).CystineNOTproduced.Defectsincollagen
crosslinking.Marfanoidfeatures(tall,arachnodactyly,higharchedpalate,lensdislocation),osteoperosis,
epilepsy/mentalhadicap,venous/arterialthrombosis(OCPcontraindicated),folatedeficiency(incMCV),
prematurecoronaryartdisease.Rx.Restrictmethionine,addcystine.GivePyridoxineassoonas
diagnosisismade.
42.(112)hypotension,hyperkalaemia,metabolicacidosis>Addisons,diuretics/saltloosingnephritis.
43.(114)hypokalaemia>giorrenalloss.RENALif1.HYPERTENSIVEwithhighrenin(malignant
hypertension,RAS,diuretics),withlowrenin(conn's,cushing's,liddle's=tubulardefectmimicsconn's
biochemistry)2.ACIDOTICthinkRTAasmostothercausesgivealkalosis.3.NORMOTENSIVEdiuretics,
carbenoxole,liquerish,aminoglycosides,Barters=childJGAhyperplaia,weakness,nocturia,failureto
thrive.liquorishandcarbenoxalonecanalsocausehypertension.THINKOFGASTROCAUSESIFKIS
AVIDLYRETAINEDFROMKIDNEYie.<20MMMOL/LURINARYK.
44.(115)Coeliacdiseasewhitesesp.irishHLAA1,B8,DR7,DQW2,glutensensitiveenteropathy.20%
donothavediarhhoea.antigliadinantibodies.children:failuretothrive,adults:abdopain,fatgue,wtloss.
Ankleoedema(albumin),mouthulcers(Fe),osteomalacia(vitD),hypocalcaemia.Anaemiamaybe
Fe>>B12butbothoccur.hyposplenism(HowellJollybodies).endoscopicD2orjejunalbxshowsvillous
atrophy,antigliadin/antiretiuculinantibodiesseeninmostpatients.antiendomyesialcanbeabsentbut
aremorespecific.Rx.glutenfreediet.assocwithautoimmunethyroiddx,liverdx,fibrosingalveolitis,
IDDM.complications:lymphoma,adenocarcinoma,splenicatrophy.
45.(116)CerebralmanifestationsofHIVtoxoplasmosis(IgM,SabinFeldmandyetest,CT...Rx
pyrimethamineandsulphadiazine),TBmeningitis(ZNstain...RxAnsamycinandclofazamine),crytococcal
meningitis(Indiainkstain,CT..Rxamphotericin),lymphoma(dxbrainbxorcsfcytology...rxradiotherapy).
UncertaindagnosisonCT>RxfortoxoplasmosisandrepeatCT2weeks.biopsyiflesionspersist.
OthermanifesationsofHIV:HIVdementa,PMLE,Herpesencephalitis,periphneuropathy).
46.(118)CharcotMarieToothdiseaseHereditorySensoryMotorNueropathy/PeronealMuscular
Atrophy.HSMN1:familialdiffusedemyelinatingneuropathy,presents<20yrs.wastedlowerlimbs>
invertedchampagnebottlelegs,footdeformity,scoliosis,sensoryataxia.dx:FH,nerveconduction,chr1q.
HSMN2milder.HSMN3(DejerineSottasdx)autrec.mixedneuropathy.presents<10yrswithpalpable
peripheralnerves(palpblenervesalsoseeninacromegally,leprosy,nft,hiv)
47.(120)Methaemoglobinaemia(i.e.HaemFe2+>Fe3+)assocwithG6PD(lowNADPHsoHbmore
readilyoxidatised).MetHbhighafinityO2>oxdisscurveleftshift>dectissueoxygenation.variable
degreeofcyanosis.metHblevel20%(dyspnoea,headache,angina)60%+collapse,suddendeath.Blood
filmintravascularhaemolysis,Heinzbodies.Causes:G6PD,drugs(sulphonamide,primaquin,
phenacetin),toxins(ferriccyanide,chlorate,anilinedyes)
48.(120)leftshiftofO2dissociationcurve:metHb,sulphHb,COHb,FetalHb,decreased23BPG,
alkalosis,hypocapnia,hypothermia.
49(121)painreliefandrenalfailure>thinkauteinterstitialnephritismostlikely.
50.(123)HepatitisBserology.Onsetofinfection>HBcAbIgM,Markerofpreviousinfection>HBcAb
IgG.HbeAb>reducedinfectivity(cfHBeAg>increasedrisk).HBsAb>immunity,lastonetoappear.
CAH>usuallyHBeAgamdHBsAgdetectedandhistoryisforseveralmonths.
51.(124)Rhematoidarthritisepiscleritis(painless),scleritis(painfull,bilateral,ifrecurrentcancause
perforation).anaemia,Felty'ssyndrome,renal,resp.Drugsforrhpancytopenia(penicillamineorFelty's),
nephroticsyndrome(pnicillaminemembranousGN,renalamyliod,NSAIDS/analgesics),anaemia(as
aboveplusNSAIDS,chrdx,folatedef,atoimmunehaemolysis,pernicious).eyedx(scleritis,sjorgens,
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steroidcateracts,chloroquineretinopathy,eyemovementmusclesynovitis,peniciillin
inducedmyasthenia,mononeuritis).Respproblems:effusions,fibrosis,bronchiolitisobliterans,
pneumonitis,pulmnodules,caplans(nodulesplusPMDincoalworkers,cricoarytinitis)
52.(125)vitDresistantricketsnopo4resorption,highurinrypo4plus/minusparaplegia
53.(128)KawasakaisdxHx,O/E,echoRx.1.aspirinPO,2.ivIg.
54.(129)atypicallymphocytesHIVseroonversion(26weeksafterexposure),CMV,EBV,toxoplasma,
secondarysyphilis.
55.(129)syphilisserology:VDRLnegative>testFTAforpreviousinfection.HIVIgG(detctableat6
weeks),p24(72hrs)orPCRforHIVRNA.
56.(130)renaltubularacidosis:serumKUSUALLYFOLLOWSserumHbutRTAisanexception.
hypokalaemicacidosiswithhypocalcaemiaandhypercholraemia.manifestsclinicallyasosteomalaciaand
muscleweakness.dx:abnormalacidloadtest,earlymorninguirnepH>5.5.distal=RTA1(defectiveH
excretion.failuretothrive,renalcolic).proximal=RTA2(absentHexcretion,NaHCO3loss.polyuria,
polydypsia).Rx.1.Nabicarbonate(correctacidosis),2.Potassiumcitrate(providesKandpreventsCa
excretion).Canbeinherited,druginduced(acetazolaminde,tetracycline,Pb,Argon,vitD),assocwith
PBC,CAH,myeloma,hyperPTH,Fanconi,obstructiveuropathy.
57.(131)Pulmonaryembolisnsuddenonset,Rheartfailure,normalCXR,restictivelungdefect,low
KCO,lowpao2lowpaco2.pulmbp.
58.(133)metabolicacidosisandrespalkalosisalwaysthinksalicylatepoisoning!Rx1.fluidsif<500.2.
alkaineduiresisif<750.3.haemodialysisif>750.
59.(135)paradoxicalemobouswithasoft(?stolic)murmur>ASD.ECGchanges:RBBB,RVH.LAxD
primumRAxDsecundum.forVSDtobesofttakesvlargedefect.
60.(136)Amphetaminescaninducecoronaryvasospasm,ventriculararrhythmia,myocarditis,torsaeds
(theyprolongQT):e.g.cocaineiayoungathlete>MI,normalangiogram.Betabloclerscontraindicated
becauseunopposedalphastimulationinamphetamineabuserscausesseverehypertension.
Amlodipine/verapamilshouldbeused.hocmisthecommonestcauseofdeathinyoungathletes.
61.(138)CongenitalAdrenalHyperplasiaautrecessive.21OHdeficiencycommonest.3pathways
cholesterolcanmake:progesterone,aldosteron/cortisol(blocked),testosterone.resultsinhigh
testosterone(F:virulisation,hersuitismM:procpuberty)andprogesterone(amennorria),lowadrenal
hormones(hypotension,vomiting,failuretothrive).HighACTH,17OHprigesterone,highurinary
ketosteroids(e.gpregnanetriol),lowcortisol.Rxhydrocortisonecorrectsdeficiencyandsupresses
androgenproduction2.fludrocortisoneasnecessary.Synacthentestisabnormalcf.PCOS.
62.(140)Toxicarainfection,dog.catreservoire,faecoralspread,2syndromes:visceralmigranssyndrom
(localeosinophileosinophilrichgranulomas,flulikesymptoms,recovery23weeks,Rx.thiabendazoleor
diethylcarbazine),oculartocicariasis(blindness,roundswellingnearopticdisk,IgMabstooxocarain
aqueousorvitreoushumurRxlaserphotocalgulation+/adjunctivestroids.
63.(144)Amoebicliverabscess.50%havenodysentry.EnlargementofliverabscessisUPWARADS
henceraisedRighthemidiaphragm,intecostaltenderness.JaundicaandabnormalLFTsarerare.Dx
US/CT,aspirateNOTsigmoidoscopy.HaemagglutinationtestshaveHIGHYIELD.Rx.metronidazoleor
tindazole.diolxanidetoeliminateongoingguinfection.
64.(146,158)Turnerssyndrome.phenotypicalfemales,canexhibitXlinkedrecessivetraitse.g.
haemophiliathatarenormallyonlyassociatedwithmen.thecombinationofshortneck,shortmetacarpals
andshortstatureisseeninTurnersandpseudhypoparathyroidism.shortfingersarealsoseenin
Noonan'ssynfdrome.genotypeXO,gonadaldysgenesis(primaryhypogonadism>incLHandFSH,low
oestogen,primaryamenorohea,infertitlity),buccalsmearBarrbody.
65.(146)HaemophilaA/BNORMALbleedingtime(cf.VonWillibrandsdisease).bothconditionshave
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prolongedAPTT.Swollenknee(haemarthrosis,chondrocalcinosis).
66.(148)Pericardialconstrictionrightheartfailure,normalheartsize(radiotherapy,TB,bacterial
pericarditis).MRI/CXRrevealsthickening/calicification.Cardiaccatheter:LVEDP=RVEDPandatrial
pressuresareequal.(restritivecardiomyopathywhichispatchy,LVEDP>RVEDP,usuallytricuspidr
mitralregurg)
67.(149)HIVrxCD4<500,viralload>10,000.2nucleosideanalogues(AZT,ddc/ddi,3tc)andprotease
inhibitor(sequinavir,indinavir)
68.(150)Amyloidosis:nephroticsyndromeandcardiacfailure.cardiomyopathy(smallQRS,thickwalls
echogroundglass),macroglossia,peripheralneuropathy,F10deficiency).rectal/gingivalbx>apple
greenbirefringence.Primary(AL)myelomaIglightchainandglycopoteindeposition.DoserumIgand
eletrophersis,urineBenceJones.Systemicamylois(AA)chronicinflam(Rh,bronchiectasis,UC/Crohns,
familialmedfever)>kidneymoreaffected(ARF,neohritucsyndrome),hepatosplenmegally.
69.(151)Freidrichsataxiaautdom,frataxinchr9,trinucleotiderepeat.spinocerebellardegeneration,
2040'sassocopticatrophy,HOCM,DM.
70.(151)KyphoiscoliosisandhigharchedpalateMarfans,Freidrichsataxia,homocystiuria.
71.(153)highwcc,myeoblasts,splenomegally>diffdiagCML,myelofibrosis.CML>lowneutophilalk
phosphatase,90%philidelphiachrpositive.bloodfilmshowsgranulocytesifvaryingmaturity.
72.(156)Parkinsonsplussyndromes:1.multisystematrophy=sporadicadultonsetparkinsonism,
cerebellarsigns,ANSfailure.Parkinsone+ANSfailure(e.g.impotence,respstridor,dysarthria)iscalled
ShyDrager.shortenedlifeexpectancy(10years).posturalhypotension>compressionstockings,
fludrocortisone,ephidrine,poorresponstoLdopa.2.SteeleRichardsonsyndrome=NFT's,70's
progressivesupranuclearpalsy(absenceofvoluntarydowngazegaze),perseverenceinspeech(palililia,
palilogia),fallingbackwards,involuntaryeyeclosure,frontalishyperactivity(7yearsurvival).bothare
completelydifferententitiestoPD.
73.(159)Hypogonadismsomecauses:1.PCOSoestradiolslightlyreduced,FSHlow,2.coeliacdx
shortstature,delayedpuberty,3.testicularfeminizationsyndrmenoreceptorsonendorgans.
phenotypicfemales,intrabdomialtesticles,testosteronelevelsveryhigh.LHandFSHalsoveryhigh(no
testosteroneReceptorsonpituitry)>highoestrogens>breasts.scantyorabsentpubichair.4.Pituitry
Cushings(basophiladenoma).Usualllycortisolsupressedbyhighdosedexamethasoneotherwise
petrosalsinussamplingforACTH.
74.(162)Sarcoidosis:multisystemgranulomas,f>m.assocblacks,Lofgrenssyndrome(erythemna
nodsum,arthralgia,hilarlymphadenopthy,antuveitis).lacrymalorparotidglandenlargement
(Mikuliczsyndromeseeninsarcoid,TB,lymphoma/leukaemia.withuveitis,facialnervepalsyknownas
Heerfort'ssyndrome).mostpatientsresolve<2years,afewchroniclungdisease>apicalfibrosis.full
spectrumofeye,skinpapules(nose=lupuspernio),arthralgiaxray=luscentphalenges,asepticmeingitis,
psychosis,mononeuritismultiplex,hypercalcaemia(1,25ohvitDfromgranlomatouscells).
75.(162)erythemanodosum:common:strep,sarcoid,ocp,UC/Crohns,sulphonamides,rest:behcets,
TB,leprosy,histpolasma,yersinia,neiserriameningitis/gonnorrohea,pasteurella.
76.(162)diabetesinsipidus:abnormalwaterdepriviationtest..urineosmolality<720.cranial:(respondto
desmopressin)familial,autdom,DIDMOAD,cerebraltumor,sarcoidosis,TB,hitiocytosisX,trauma,
piruitryhaemmohrage.nephrogenic(unresponsivetodesmopressin)xlinkedvasopressinRdefect,autrec
aquaporindefect,hypokalaemia,hypocalcaemia,Lithium,postobstructiveuropathy,sickecell,
glibenclamide,aminoglycosides,amphoteracin.
THEEND!!!!
Picturestoknow:
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mrcp4all

1.Heinzbodies(denaturedHbseeninhaemolysis)
2.Livedoreticularis
3.Lymphoerythroblasticbonemarrow
4.retinitispigmentosa
5.eruptivexanthomas
6.dermatitisherpetiformis(rxdapsone>metHb)
7.atypicallymphocyte
Approach
========
A&Edept,thinkoverdose
CRFwithnormalHb(APKD).duetoepoectopicsecretion.
chornicGIandRESPinfectioninachild>alwaysthinkCF
smokerthinkmalignancy
Calciummetabolism
==================
1.raisedALP(bone):1.functionhyperparathyroidism2.damagedcortex3.lowvitD
2.hypercalcaemia:1.1ry/3ryPTH,2.malignacy,3.myeloma4.vitDintox,5.somesarcoid
3.lowcalcium:rickets/osteomalacia,hypoparathyroidism,2ryhyperpth
4.po4metabolism:po4followscalciuminvitDpathology,inparathyroiddysfunctionitdoesthe
opposite.inotherpathologiesusuallynormal.
====================================
Disease.....................Ca.............PO4..................ALP
====================================
1ry/3rypth................high...........low..................high
malignancy................high...........norm/high........high
myelomanofracture..high............norm............norm(thinkmarrow)
vitDintox.................high............high..............normal
sarcoid.....................high/norm.....norm.............norm
=======================================
osteoperosis..............norm...........norm..............norm
pagetsdxandmobile..norm...........norm..............high
=======================================
2rypth/crf/mgdef.......low/norm.....high..............high
rickets/osteomalacia.......low...........low...............high
hypoPTH/psudohypoPTH..low...........high..............norm
=======================================
DrSujitVasanth.

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