100 Grey Cases in Paediatrics for MRCPCH

164 Pages·2003·10.535 MB·English

by  Nagi G. Barakat

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N A G I G . B A R A K A T
Contents
%
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Preface
v
Dedication vi
Acknowledgements vi
Abbreviations vii
i
Questions1-10 1
Answers1-10 10
Questions11-20 19
Answers11-20 31
Questions21-30 41
Answers21-30 49
-
Questions31 40 57
Answers31-40 72
Questions41-50 81
Answers41-50 92
Questions51-60 101
Answers51-60 112
Questions61-70 121
Answers61-70 133
Questions71-80 141
Answers71-80 151
Questions81-90 159
Answers81-90 171
Questions91-100 181
Answers91-100 190
QUESTIONS1-10
Case1
A13-year-oldgirlpresentedtoAccidentandEmergency(A&E)witha
historyoflethargy,jointpainandcough.Bothofherparentsarefrom
Jamaica.Herproblemstarted1monthago,withanupperrespiratory
tractinfection(URTI).Shewasseenbyherfamilydoctor,andaviral
infectionwasdiagnosed.Shehadapasthistoryofrashesonher
body,butherfamilydoctornever sawthem.Onexamination,shehas
palpablecervicallymphnodesof varioussizes,acongestedthroat,
generalisedmyalgia anda swollen ankle jointontheleft side.HerBP
is120/75mmHg,HR90b.p.m.andRR 22/min.Aurinetestshowed
protein+withredcells.Othertest resultsare:
Hb 9.7g/dl
WCC 4x109/lwithneutropeniaandlymphopenia
PLT 100x1071
Ret 2.6%
CRP 20
1. Whichthreeotherimportantinvestigationsshouldbecarried
out?
2. Whattreatmentsshouldyouprescribe?
3. Whatarethreepossibledifferentialdiagnoses?
Shewasadmittedforfurtherinvestigationandonthesecondnight,
heroxygenrequirementincreasedto3l/minvia afacemaskto
maintainaSatlevelabove93%.Allcultureswerenegative.
4. Whichsingleinvestigationshouldyoucarryout?
Herconditiongotworse,shewastransferredtothepaediatric
intensivecareunit(PICU),sherequiredventilation,andother
procedureswerecarriedout.Her bloodpressureremainedhigh
(130/90mmHg)andshewastreatedwithnifedipine.AkidneyUS
scanwasreportedasnormal,aswasahormonalstudy.Shewas
treatedwithantibioticsfor7days.A viraltitreshowsIgGforEBV.A
Mantouxtestisveryweaklypositive,althoughshehadnever
receivedaBCG.
5. Whichthreeotherinvestigationsmayhelpthediagnosis?
6. What othertreatmentshouldbeaddedatthisstage?
Case2
Aninfantbabygirlaged36monthswasseenin A&Ewithahistoryof
vomitinganddiarrhoeafortheprevious3days.Inthelast24hours,
shebecameirritableandgrewpale.Sheisnotinterestedineating
butisstilldrinkingfluids.Shewasbornfulltermandhasnoprevious
problems.Thefamilylivesinacouncilflatwithoutcentralheating.
Thefatherisaheavysmokerandthemotherisheavilypregnant.The
infantlookspalewithaperipheralcapillaryrefillrateof3s.HerHRis
2 100GreyCasesinPaediatricsforMRCPCH
/
140b.p.m.,RR 30/minandBP90/60mmHg.Herliveris3cmbelow
therightcostalmargin,therightkidneyispalpableandthereisno
jaundice.Herurineshowsprotein+,RBC++andnoorganismsor
leukocytes.Allculturesarenegative.
1. Listfourimmediateinvestigations
a ESR
b INR
c RenalUSwithDoppler
d Ureaandelectrolytes(U&E)
e HepatitisBandCserology
f Fullbloodcount(FBC)
g 24-hoururinaryprotein
h VMA
i Renalbiopsy
2. Whatisthemostlikelydiagnosis?
a Haemolyticuraemicsyndrome(HUS)
b UTI
c Gastroenteritis
d Obstructiverenalfailure
e Rightrenalarterythrombosis
f Rightrenalveinthrombosis
/ g Wilms'tumour
h Acuteglomerulonephritis
3. Namethreestepsofmanagement.
Case3
An11-year-oldboywasreferredtoA&Ewithahistoryoflimpingsi
I
paininhisrightleg.Thedaybefore,hewaschasinghissister,fell
andhitthesideofthecoffeetable,andhassincebeencomplainingsfl
paininhisrightknee.Thereisnofamilyhistoryofanyillnessess:r
fromhisaunt,whodied3yearsagowithanillnessdescribedass
stroke,afteralongtimeofunspecifiedillness. -
Systemicandgeneralexaminationswerereportedasnormal,excel
fora slightproximalweaknessoftherightleg.
1. Whatonetestshouldyoucarryout?
a ESR
b CRP
c RightandleftkneeX-ray
d RightkneeX-ray
e RightkneeUS
f RightkneeMRI
g RightkneeCT
Theboypresented5dayslaterwithmoreweaknessandwasseer r
theorthopaedicsurgeon,whodiagnosedmuscleweaknessand
referredhimtothepaediatrician,whowouldseehimin2days.T“*l
samenighthecamebackto A&Ewithmoreweaknessinhisright
anda rightarmthatfelt'heavy'.Thereismarkedweaknessofthe 1
Questions1-10 3
proximalmusclegroupsintherightupper andlower limbs.The
reflexesarepresentandthesensationisintact.
.
2 Whichthreedifferentialcjjagnosesarecorrect?
a Guillain-Barresyndrome
b Myeloencephalitis
c Myositis
d Spinalcordinjury
e Sciaticnerveinjury
f Hemiplegiasecondarytointercerebralinsult
g Dysraphism
h MS
i ADEM
.
3 Whattwoabnormalitiesappear onhiscranialMRI?
.
4 Whichtwoinvestigationsshouldbecarriedout?
a Nerveconductionstudy
b LP
c EMG
d CranialMRI
e Musclebiopsy
f CK
g LowerlimbmuscleMRI
After 2daysinhospitaltheboystartedhavingdifficultyin
swallowingandwasnotabletousehisrightleg.
5. Whatisthediagnosis?
Case4
Sincetheageof3years,this7-year-oldgirlhaspresentedwitha
history of recurrentmouthulcers.Shewasbornbyafull-termnormal
delivery(FTND)andhermothersaidsheisahealthygirl.Hermother
hasulcersinher mouthfromtimetotimebut,notasmanyasher
/
4 100GreyCasesinPaediatricsforMRCPCH
daughter.Thegirleatsapackedluncheveryday,withonlybrown
breadandahigh-fibrediet.Shehastwo siblings,whoarehealthy
Herbowelhabitisnormal.Duringthesummerholidaysherulcersi
lessfrequentandshemaygetthemonceonlyoveraperiodof8
weeks.Shoiscurrentlyahealthyyounggirlwithoneulceronthe
innerrightsideofher lowerlip.Thetestresultsare:
Hb 10.2g/dl
WCC 7x 1071
PLT 380x 1071
MCV 80fl
MCHC 32g/dl
LFT Normal
Stool Normal
1. Whichthreeother investigationsshouldbecarriedoutandin
whatorder
a ESR
b UpperGITendoscopywithbiopsy
c Endomysealantibodies
d Stoolfor reducingsubstances
e Bariumswallow
f Dentalcheck
g ThroatswabforCandida
h IgandIgG subclass
2. Whichtwoabnormalitiesarevisibleinthefigurebelow?
a Lymphocyteinfiltration
b Totalvillousatrophy
c Partialvillousatrophy
d Normalvilli
e Granulomatouschanges
f Cryptsulcers
3. Whatisthemostlikelydiagnosis?
Questions1-10 5
Case5
A6-week-oldinfanthasahistoryof persistentcoughandwheezefor
3days.Heistotallybreastfed«ndfeedinghasbecomeincreasingly
difficultinlast3days.Thereisnohistoryofwhoopandheisafebrile.
Hisbirthweightw3s3.5fcg-amdhenowweighs3.9kg.HTsoldersister
hadafebrileseizureatthe age of 1year.Thefamilylivesinatwo-
bedroomedflatandhisfatherworksasabuilder.Therehasbeenno
contactwithanyonewhohassimilarillnessandthereisnohistoryof
travelabroad.
TheinfantisactiveandhasaSat levelof92%inair.
Heisusingallhisaccessorymusclesandthereisnostridor.
Crackleswe.reheard justbeforehiscoughandattheendof
inspiration
1. Whichtwoabnormalitiesappear ontheCXR?
a Rightupper lobecollapse
b Hyperinflation
c Increasedbronchialairwaythickening
d Leftupper lobecollapse
e Largeheart
f Fractureribs7and8
g Tracheadeviatedtoright
h Rightmiddlelobecysticlesion
Athroatswabshows Haemophilus influenzaeandapernasalswabis
normal.Othertestresultsare:
6 100GreyCasesinPaediatricsfor MRCPCH
Bloodgas pH 7.29 = A/th'og’yposs
sflasCOj 5.2kPa e Spinabrfida
9kPa f He.redtarysens
17 5 C'-spasapuna
-
BE -1 Listthree further %
serforr-ec
2. Whatistheabnormalityonthearterialbloodgas?
3. Whatonetestcanconfirmthediagnosis? EM-G
a Sweattest VCS
b NPA Wjsoe Pees-.
c Pernasalswab e Z'i- 5 V-
d Bronchoscopyandbronchiallavage
e ChestCT ; Sc- cops,
f Ciliarymotilitystudy 1 ,V~3T
Case 6
Ina neonatalunit,thereisa13-day-oldbabygirlwithfloppiness,
difficultyfeedingandjointcontractures.She wasbornfollowing an - j-»ear-pc 30» Zinsser
easypregnancyat38weeks'gestationbylowersegmentcaesarean - - z i f - — - :-
sectionduetoapreviouscaesarean section.Thebaby cried TMTEsBier arc D. I;
immediatelybuthalfanhourlater shebecamecyanosedandhad -saar mas*v srsrz \
difficultyinbreathing.Shewasadmittedtothespecialcare babyunit aarr-Toe® a ie!
(SCBU) andwasventilatedfor8days.Sincethenshehasbeenfedby soar art:^melessic *
ntiamseogtoasttimrice.tuHbeer(mNoGtTh)earnhdashahsadretqwuoirmedisocxayrrgiaegnevsi.aSahfeacheamsatwskofrom Hs^_A-Tansrrai-re-ii*sie*jrrnrmea-nars*nrgsr
older sisters,whoarehealthy, andthereisnohistory of sear r>»«sr
consanguinityorsuchanillnessinthefamily.Anothersisterdiedat *TT. H :
the age of3months,witha severechestinfection,andpresentedin a Tsssi-auaars arr«r zmo
moreseverestatethanshedid.Thissisterrequiredventilationfor3 :r: rarooas
weeks,andwaslessalert,had joint contractures,clenchedfists, *rr Ti ®»—TfTOWST r 3
hirsutismandwasgrosslyfloppy.Treatmentwaswithdrawnandshe
diedfromchestinfection. 3nju*T*i t mm r aw
KH WiHe-a»e»
Oonntehxea3mrdincaetinotnil,et,haisndpasthieenht'assoschcoiprtitlaelg-fsrownittahlccoirncturmacfteiorennactet(hOeFhCip)sis iasJ&, fir*. *R3sLffler
andkneejoints.Shehaslow-set ears, a largefontanelle,prominent
skullsutureandislesshairythanher sister.Sheisquitefloppy,alert
ifsheisawake,hasnotonguefasciculation,andthegagreflexis
present.Thereissomegravitymovementinherlimbsandreflexes
are presentbutnotbrisk.TheCKis40mmol/l(normalTange:42-60 UP
mmol/l)and a metabolicscreenisnormal,whichincludeslumbar
puncture(LP) andwhitecellenzymes,andthereisnochromosomal TSIE
abnormality. fcfaJ 'fir
*31U,f
AnMRIscan ofthebrainwasreported asnormalandlimb X-rays -(cid:127) -
shownobonyabnormality.Other systemic examinationsarenormal.
1. Whatisthemostlikelydiagnosis?
a Congenitalmyotonicdystrophy
b Spinalmuscleatrophy
c Congenitalmyasthenia gravis
Questions1-10 7
d Arthrogryposismultiplexa
e Spinabifida
f Hereditarysensorymotorneuropathytype1
g Dysplasiapunctataecongenital
2. Listthreefurtherinvestigationsintheorderthattheyshouldbe
performed
a Tensilontest
b EMG
c NCS
d Musclebiopsy
e CranialMRI
f BoneX-rayforbonedensity
g Skinbiopsy
.
3 Whatmanagementwouldyourecommend?
Case7
A13-year-oldboypresentedtoA&E withahistoryofabdominalpain,
whichwasfeltmainlyontherightsideofhir,abdomen.Heisakeen
footballerandplayedagameoffootball2daysagoforabout2hours.
Hispainwasverysharpandradiatedtohisgroin.Novomitingor
diarrhoeaoccurred.Thesurgeondiagnosedappendicitisandaskedfor
bloodandurineteststobecarriedout.Hewasadmittedovernightand
putonthenextmorning'soperatinglistafterreviewbyaconsultant
surgeon.HisurinetestshowedaRBCofmorethan200andno
leukocytes.Hesleptovernightafter beinggivenibuprofenbutby4.00
a.m.hestartedshoutingasthepaingotworseandwasnowspreading
tohisshouldersandback.Reviewwasmadebythesurgeon,who
prescribedmoreanalgesia,andarequestwasmadefortheboyto
remainnil-by-mouthinpreparationforapossibleappendectomyby
themorning.Afterthewardround,anUSofhiskidneysandabdomen
wasorganised,anditcamebackasnormal.Thepaediatricteamwas
askedtoreviewthecase,ashestartedcomplainingofspasmsinhis
legs,arms,shoulderandsaidthattheywerepainful.Hewasvery
irritableandjumpywhentouchedortalkedto.Hewasstartedon
antibioticsandacyclovir,andabrainCTscanwasorganised,which
camebackasnormal,evenwithcontrast.Othertestresultsare:
Hb 13.3g/dl
WCC 12x1071(N82%,L3%)
PLT 150x1071
LDH 1500mmol/I
CK 6650mmol/I
ALT 150IU/I
Aik.Ph 990IU/I
GT 200IU/I
Alb 37g/dl
Bilirubin 370pmol/l(conjugated15%)
ESR 30mm/hour
CRP 12after2weeks
8 100Grey CasesinPaediatricsfor MRCPCH
TDvhiiraeazlemspeuarsmoclloeagnsydpwacsahmsiosnrmewgeoatrhtsiiveaenz:eoMdleyahcneodlpphleaedswmaanasdtightreeetstiim,nLgpyrmmovoeerdedi.saAegaliltsaheti.esd. aarr»~_ O~(cid:127):3ct«~rai
33
Brucellaserology,andLeptospirosisIgMantibodies.Heis 5*
fullyvaccinated,withboostersatthe ageof6yearsanda BCG
-
1yearago.Hehasn'tbeenabroadinthelast 3yearsandno one ate-a HOST mm
isillathome.Hisurine stillshowsthe presence ofRBCs.HisLP a ^Vcrc saercss
showsnoabnormalities,evenPCRsfor bacteria andviruses.
TestsforANAandcaeruloplasminewerenegative.Screeningfor
alpha-1-antitrypsinwasnegative.Theleadlevelwasalsofoundto i**riHrrwmmimw
benormal. * CacncTim'»is»s Q
1. Whichotherthreetestsmayhelpthediagnosis? Zimgemm icrsr
a BrainMRI
b Musclebiopsy
c EMG
d NCS
9
e RepeatviralserologyforEBV,parvovirus
f Repeat Mycoplasmatitres Amkra rae «<T a
-
g DNAdoublestrands * snow Z m
h Urinetoxicology momT nenx <»«1a x
am -
2. Whatarethreedifferentialdiagnoses? ts tsearsinx
a Viralhepatitis Twass-»ur tiarms sT
b Leptospirosis taros wnressa waste
c Tetanus
d Meningoencephalitis
into ^3SO*
e Myositis
lip
f Drugabuse
%
gh PSaynsctermeaitcitliuspuserythematosus(SLE) <P*= ' s «-
m
zmSMB
Case8 ta
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DKf
An18-month-oldgirlwith a historyofvomitingandpoorweightgain niiiaww
wasseeninA&E.Shehasnotbeenverywellinthetest3monthsand ' her me rmeis
inthelast6months,after a URTl,she startedtovomitandwasnot a .jmnater jr®
interestedinfeeding.Shewasbornat36weeks’gestationbyLSCS X
forpolyhydramnios;therewerenoother concerns.SheTshypotonic Snr me* TBST
andhermother saidthat shehasfounditdifficulttocopeinthe 5J.3C3S3
last3monthswiththefrequencyofchanginghermappiesandthe c %E~
largeamount of fluidshe istaking.Her generalpractitioner(GP) 3ttan» XT 3
checkedher bloodsugar (BS),whichwas4.5mmol/Ionthree I
occasions.The renalscan showsnephrocalcinosis.Therewereno age BL
otherillnessesandsheisthefirstchildinthefamilywhohascome tarme time «m
fromnorthAfrica. a nuMMaoc arr
3fen ounu
Thechildlooksmiserable;herweightis onthe 10thcentile,having
AoiwiaBsam
droppedfromthe50th.Sheismoderatelydehydratedandher
abdomenissoft,withnoorganomegaly.Herurineisclearandthere
isnometabolicproblem,as alltestshavebeencarriedoutinthepast. JBagw»- q Tam
Othertest resultsare: *>13m .a!*sr