Neuro Case Scenarios

7/21/2019 Neuro Case Scenarios

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NEUROLOGYNEUROLOGY

Post Graduate CMEPost Graduate CMEOSCE - NeurologyOSCE - NeurologyBai Jerbai Wadia Hosital !or C"idre#$Bai Jerbai Wadia Hosital !or C"idre#$

Mu%baiMu%bai



&' ( yrs old$ boy $ )*N+$ Nor%al %otor$

%e#tal a#d la#guage %ilesto#es,Co%lai#ts !ro% s"ool . aggressi/e$

a#t sit i# o#e lae$ restless$

!orget!ul a#d i%atie#t$ roble%s 0it"!rie#ds$ !ig"ts

• Diagnosis?• 3 cardinal features of this condition

• 2 treatment options



• ADHD

• Inattention, hyperactivity and impulsivity

• Medications (methylphenidate,

amphetamines, fluoitine, atomoitine!,

"ehavior therapy



1'*"is "ild "as

eilesy$ MR$ ata2ia$

u#ro/o3ed laug"ter$

se/ere see" delay

• Diagnosis?

• #hromosome involved

• Inheritance

• $ame a syndrome %ith

the same chromosomala&normality



• Angelman syndrome

• ')''*2+'2

• niparental disomy - usually maternal (./+

01! + occ* paternal

+ normal chromosome

? Dominant mutations

• rader illi - ')''+'3 (paternal origin!



3! 1 yrs old "ild bor# re%aturely 41503s6o%es 0it" o%lai#t o! delayed

a"ie/e%e#t o! %otor %ilesto#es,E2a%i#atio# s"o0s "yerto#ia 0it" bris3re!le2es i# all ( li%bs %ore %ar3ed i# lo0erli%bs,

• hat is the diagnosis? Define*

• hat is the M4I picture?

• hat is the treatment and %hen do you start it?• $ame 2 conditions this child %ill &e at ris5 for?



• 6pastic Diplegia* Increased tone in all 7etremities and face* 88989 face

• eriventricular leu5omalacia

• :arly intervention

• 8earning disa&ilities,

• ;isual concerns

• :pilepsy

• Delayed mental development

• "ehavior concerns



(,7 !ull ter% $%ale "ild de/elos 8au#dieo# day 9 o! li!e$ :S, bilirubi# .9( %g;'a#du#dergoes a# e2"a#ge tra#s!usio# *

• hat is the immediate complication li5ely tooccur?

• here is the anatomical a&normality?

• hat are the long term complications?• $ame ' investigations you %ould insist on

after discharge?



• <ernicterus

• =lo&us pallidus, dentate nucleus, cere&ellarvermis, cochlear nuclei

• #horeoathetoid cere&ral palsy, dystonic >

dys5inetic #, 6ensorineural deafness,

• Audiometry testing



<, 7 "ild 0it" aare#tly #or%al birt""istory =MS- soial s%ile at 9 %t"s$Sitti#g at 5 %o#t"s$ rt "a#dre!ere#e at > %t"s$ 0al3i#gi#dee#de#tly at &,? yrs,

• hat is your diagnosis?

• hat investigation %ill you do?

• hat relevant maternal history %ill youas5 for?



• #ongenital hemiplegia

• M4I &rain

• Maternal inury, threatened a&ortion, A# resistance, coagulation pro&lem





.* +iag#osis

• 3 Differential diagnosis

• 3 differentiating features



• 4ing enhancing lesion

• $##, tu&erculoma, tooplasma,

• a&scess, tumor

• eripheral vs central

• single vs multiple

• perilesional edema

• smooth vs irregular

• 6cole seen• all thic5ness

• Intensity of cystic material





0* Diagnosis

• $ame 2 other s5in lesions

• Inheritance

• @ther systems you %ould eamine

• $ame 3 lesions seen in the &rain



• Ash leaf macule in u&erous sclerosis

• Adenoma se&aceum , shagreen patch,

cafB au lait spots

• Autosomal dominant

• :yes, heart, 5idneys, &rain

• u&ers, su&ependymal nodules,su&ependymal giant cell astrocytomas



8. This 5 yr old comes with unsteadiness of

gait with recurrent respiratory infections.• Diagnose the condition

Inheritance

3 salient features

2 la&

investigations



• Ataia elangiectasia

• Autosomal recessive

• C:A4:6C:A4:6 Ataia, telangiectasia,immunodeficiency, recurrent sinopulmonaryinfections, E ray hypersensitivity, malignancies

• 8A"8A" Alpha feto proteins, Immunoglo&ulins,(lo%

IgA, Ig=, high IgM!, chromosomal &rea5s %itheposure to radiation*



F* 5 yr old boy 0it" "eada"e$

/o%iti#g$ ata2ia$ diloia,

• #linical diagnosis?

• M4I sho%s 6@8

• *$ame 2 supra and infra tentorial 6@8s

• Cor this 6@8 %hat other a&normalities

%ill you epect



• 4aised I#

• 6upra+ #raniopharyngioma, astrocytoma, =liomas,ganglioglioma

• Infra+ medulo&lastoma, glioma

• #raniopharygioma

• anhypopitutarism, Hypothyroidism, =H deficiency,

=onadotrophin deficiency, cortisol def*



'/* CS) iture

Protei# &?(@%g; $

sugar (<A>1 $

ells &<@ P(@ L?@

• Identify the condition

• 3 pathological etiologies

• 3 features on # scan

• reatment options



• "M

• Ischaemia, edema, eudates

• Infarct, &asal eudates, hydrocephalus (communicating >non communcating!tu&erculomas,

• 7 drug A<, steroids, anti edema, shuntsurgery,



''* C"ild 0it" !e/er$ "eada"e $/o%iti#g a#d altered se#soriu%,

• CS) iture =rotei#s &9@$

sugar (@A>@$

ells 1(@ P(@ L ?@

• =ive 3 differentials

• =ive 2 other investigations




• artially treated pyogenic meningitis,

early "M, aseptic, viral meningitis

• 8ate agglutination, H6; D$A #4, #

scan %ith contrast, ::=

• Anti&iotics, acyclovir '/ mg>5g G hrly for

'7 days, A<, supportive



&1,C"ild 0it" !e/er $ o#/ulsio#s$

altered se#soriu% CS) iture = rotei# ?1$

ells >< P&@ L>@$

sugars (<A5@$RBCs 5@A "!

• Additional 2 investigations of choice

• reatment %ith dose



• ::= + 8:D6+periodic lateraliingepileptiform discharges

• H6; #4,( ? H6; Ig=, IgM !, # scan >M4I %ith contrast - &i> uni temporalhyperintensities

• Acyclovir '/mg>5g>dose G hrly for '7 +2'days



&9'&,< yrs old "ild 0it" !e/er a#do#/ulsio#s,

CS) iture = rotei#s 5@$

sugar 1@ A?@$

ells <@@ $ P >@ L &@,

• Diagnose > 3 common organisms

• #hild develops tense AC %ith focal

convulsions on day G* ro&a&le causes?• 3 8ong term se)uelae



• yogenic meningitis pneumococci, Hinfluena, meningococci

• 6u&dural empyema, cere&ral a&sess,infarction*

• 6ensorineural deafness,hydrocephalus, #, M4, :pilepsy,

&ehavioural pro&lems



&('&& %o#t"s old o%es 0it"

#euroregressio# !ro% < %o#t"s o!age, He is "yoto#i o# e2a%i#atio#,

• $ame 3 systems you %ould li5e toeamine?

• Differentials

• =ive 7 DDs of cherry red spots• Investigation of choice



• #$6, a&dominal, ophthalmology,

• <ra&&es, =6D JompesK, ay sachs,gangliosidosis

• =M '=angliosidosis, sialidosis, taysachs, niemann pic5s, sandhoffs, M8D,

mucolipidosis• 8eucocyte enymes, fi&ro&last culture



&<'&5 %o#t"s old "ild o%es 0it"reurre#t stro3es $ tosis $ ata2ia a#d%yoat"y,

• Diagnosis

• Investigation of choice

• Inheritance

• $ame 2 more conditions of the samemeta&olic category



• M:8A6

• Mitochondrial deletion study

M4I %ith spectroscopy

#6C 8actate, "lood 8actate*

A"=+Anion =ap

Meta&olic 6creen

• Maternal transmission

• M:44C6, <earn 6ayers, 8eighs, Alpers



'.! ? %o#t"s old !e%ale "ild$ )*N+$"as asy%%etri i#!a#tile sas%s$

de/elo%e#tal retardatio# a#d"oroidal lau#ae, MR li#"es t"ediag#osis,

• hat is the diagnosis?

• hat is the M4I picture?

• hat is the inheritance pattern?



• Aicardi syndrome

• #orpus callosum agenesis

• osterior choroidal cysts,

• choroidal lacunae

• E lin5ed Dominant



'0! 7 boy rese#ts 0it" t"is s3i#

lesio#-

=ive 7 differential diagnosis

hen and ho% much %ould youinvestigate?



• #afB au lait spot*

• DD+ $C,Mc cune al&right, 6, Ataia

telangiectasia, Maffuci, anypha5comatosis, #hedia5 Higashi

• If asymptomatic -$o treatment

;:+eriodic intervals if

a&normal do M4I foroptic glioma

• If symtomatic -;:, M4I,

::=



'G! • $ame the sign

• 3 DDs

• 3 investigations in

se)uence ofimportance

• Inheritance> locus



• =o%ers 6ign

• Duchenne, 6MA III, 8im& girdledystrophy, "MD, myopathy

• Dystrophin gene study, :M= >$#;,#< levels

• E lin5ed recessive> Ep 2'



'F!

• Diagnosis

• 2 associateda&normalities

• #lassical #$6 picturein # scan and isdescri&ed as

• Inheritance



• 6turge e&er syndrome

• =laucoma, intracranial calcification,

intracta&le epilepsy, hemangioma

• ram trac5 calcification

• 6poradic inheritance



• 2/!

• Identify

• 2 salient features

• #riteria for diagnosis

in ne%&orn periodare called

• #hild develops

spastic)uadriparesis*hat%ill you suspect?



• Do%ns syndrome

• Cacies, congenital heart defects,hypothyroidism ,deafness, hypotonia

• Halls #riteria

• Atlanto+aial dislocation



• 22!

• Diagnose

• Inheritance

• 2 associateda&normalities

• Investigation for

4aised I#



• Apert syndrome

• Autosomal dominant

• roptosis, syndactyly, M4

• 3 D #6can



• 23!

•*"is "ild a%e0it"#euroregressio#!ro% %o#t"s o!age 0it" ab# "a#d%o/ts

• Diagnosis > DD

• 3 salient features• hich milestones

are delayed?



• 4etts syndrome > Autism

• Autism, stereotypies,microcephaly, loss of

fine purposeful handmovements

• 6ocial, language



27! &@ %o#t" old $ %ale$ rese#ts 0it"rogressi/e dereased ati/ity si#e 9%o#t"s o! age$ breat"i#g di!!iulty si#e5 %t"s a#d #eu%o#ia, E2a%i#atio#s"o0s alert "ild 0it" "yoto#ia a#dabse#t re!le2es,

• hat is the diagnosis ?

• Ho% do you confirm?

• hat is the inheritance?

• $ame 3 antenatal > natal features to as5 for?



• 6MA '

• :M=>$#;, =ene studies

• 6MA+ A4,

• Decreased fetal 5ic5 count,

polyhydramnious, previous fetal loses,%ea5 cry, resp pro&lems at &irth*



2! 9 yrs old girl o%es 0it" drooi#g o! bot"eyelids a#d sDui#t #otied si#e &< days,7b#or%ality see%s to i#rease i# t"ee/e#i#gs,

• Diagnosis?

• Any 2 relevant )uestions?

• Ho% do you confirm? $ame 2 relevantinvestigations*

• Drug of choice*



• Myasthenia gravis

• Any other activity tires %ith time eg*:ating, %al5ing, speech,

• :drophonium test > $eostigmine test

• Anticholinesterase anti&ody, :M= %ith

repititive stimulation, #6can chest

• yridostigmine



•

• 2. ! 8a&el the

parts sho%n



• #orpus callosum

• 8ateral ventricle

•7 th ventrricle

• ons

• medulla

http://www.jankharia.com/TeachingFiles/Tuberculosis/Cns/WT_tbm09.jpg



:I8:6L



&'( Yrs old boy 0it" #or%al %otor a#d

%e#tal de/elo%e#t beo%es a"asi !orlast &< days, He "ad a si#gle G*C at 9,?

yrs,CNS e2a%i#atio# is #or%al,

• Investigation of choice

• Diagnosis




• ::=

• 8andau <leffner syndrome

• I; Ig , 6teroids, A:Ds



2! ? yrs old girl 0it" delayed de/elo%e#t,

Peri#atal "yoglye%ia, Sy%to%atii#!a#tile sas%s at %t"s, *"e# !oalseiures$ ge#eralised$ %yolo#i a#d #o0to#i,

• Diagnosis?

• Drugs used?

• A:Ds to &e avoided?

• $on pharmacological treatment modalities



• 8enno =astaut syndrome

• ;alproate, 8amotrigine, opiramate,clo&aam

• #ar&amaepine, pheno&ar&itone

• #orpus callosotomy, <etogenic diet,vagal nerve stimulation



3! &@ yrs old boy rese#ts 0it" li s%a3i#g$

!aial a#d eye de/iatio# o# le!t lasti#g 1%i#utes a!ter !alli#g aslee, Si%ilar"istory 9 a#d ? %o#t"s ba3,

• Investigation of choice?• Diagnosis?

• hich investigation you need not do?

• rognosis?• Drug of choice?



• ::=

• 4olandic epilepsy> ":#6

• M4I>$euroimaging

• =ood,

• #ar&amaepine >ocar&amaepine



('( days old #e0bor#$ )*N+ rese#ts

0it" %ultile %ulti!oal seiures, He"as a #or%al syste%i e2a%i#atio#,

• DD+ 3 most imp

• If strong family history of neonatal

seiures present, %hat %ill u thin5



• Hypocalcemia,

• hypomagnesemia,

• th day fits,

• "C$6,

• hypoglycemia

• "C$6



! ? yrs old boy o%es 0it" le!t sided

!oal seiures reeded by aura o!!ear!ul#ess, He "as "istory o!rolo#ged !ebrile seiures at & yr o!age, EEG s"o0s rig"t te%oral

eileti!or% ati/ity,

• hat M4I picture do you epect?

• hich virus has &een suspected for thesame lesion?

• hat are the treatment options?



• Mesial temporal sclerosis

• Human herpes virus .

• emporal lo&ectomy





.! hat does this ::= sho%?

• hat is the drug of choice?

• rognosis?

• @ne @D procedure to confirmdiagnosis



• 3 H spi5e and %ave activity in A&senceseiure - childhood >uvenile

• ;alproate, 8amotrigine, clo&aam

• =ood in childhood, slightly less for uvenile

• Hyperventilation



er5 er5



0! Diagnosis

• #onfirmatory test

• 3 therapeutic options



•66: -&urst suppression pattern

• #6C measles Ig=

• 4i&avarine, interferons, inosiple,

amantidine





G! Diagnosis

• #ommonest etiology

• Drug of choice



• 8:D6• Herpes encephalitis

• Acyclovir



F! ? yr old %ale ad%itted 0it"rolo#ged ge#eralised seiures,

• Immediate A:Ds -name 2 %ith dose• 2nd line A:Ds -2 %ith dose

• 3rd line - name 2



• 8oraepam J/*/mg>5gK,

• Diaepam J/*3mg>5gK,

• midaolamJ /*2mg>5gK

• henytoinJ 2/mg>5gK,

• pheno&ar&J2/>5gK

• Midaolam drip,

• propofol,• thiopentol



'/! ? %o#t"s old "ild 0it" "Ao

eri#atal i#sult o%es 0it"regressio# o! soial %ilesto#es a#dlusters o! startles o# a0a3e#i#g ,

• Diagnosis

• $ame 2 investigations you %ill as5 for?



• Infantile spasms, est syndrome

• ::=, M4I

• Hypsarrhythmia

• A#H > steroids, ;iga&atrin, ;alproate>opiramate > $itraepam



''! SO+UM F7LPRO7*E

• :ach ml of syrup contains

• #ommonest 3 side effects

• #ontraindicated in• 6ynergistic activity %ith

• Dosage range

• ith 8amotrigine %hat precautions Areneeded?



• 2// mg, or 7/ mg>ml

• eight gain, hair loss, hepatotoic,#@D, hirsutism, hyperammonemia

• Inherited Meta&olic disorder, underlyingliver dysfunction

• 8amotrigine

• '/+7/ mg>5g>day

• #ut the dose of ;A %hen adding 8M



'2! *oira%ate

• 2 indications

• 2 side effects

• #ontraindicated in

• a&let strength? 6yrup? Any otherpreparation 5no%n?



• =eneralised, partial, Infantile spasms, 8=6

• t loss, %ord finding difficulty - speechregression, &lurred vision, renal calculi,

hyperthermia

• thin children, speech concerns

• 2 > / > '//mg* $o syrup* 6prin5le



'3! Carba%aei#e

• #ommonest side effects

• $ot used in• Higher derivative %ith advantage

• 6yrup strength



• Ataia , diplopia, rash, hyponatremia,cognitive decline, &ehavior concerns

• A&sence, myoclonic

• @car&aepine, less side effects

• ml N '//mg



&('La%otrigi#e

• Indication, Dose

• 6ynergistic %ith?• hat dosage modification done?

• 8ife threatening side effect?



• artial, generalied, 8=6, M:

• 3+0 mg>5g>d

• ;alproate,

• 4educe the dose of ;A prior tostarting

• 6teven ohnson syndrome



• '!$ame 3 ne%er A:Ds

• $ame a car&onic anhydrase inhi&itor used

as A:D



• @car&amaepine, opiramate,8amotrigine, ;iga&atrine, =a&apentine,Oonisamide, 8eviteracetam, Cel&amate,

iaga&ine

• Acetaolamide, opiramate



'.! 9 %o#t"s baby "as i#tratableeilesy si#e birt" a#d delayedde/elo%e#t

• $ame 2 vitamins you can try

• Does not respond to them - %hat

investigation net



• yridoine

• "iotin

• Meta&olic %or5up, M4I - dysplasia,meta&olic



'0! &st u#ro/o3ed ge#eralised seiure

i# a 1 yr old "ild

• :ssential investigation

• @ptional investigation

• reatment of choice



• ::=

• M4I, &iochemistry, #6C

• $il , unless specific indication



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