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Pediatric Neurology OSCE (PG CME -Wadia)
 

Pediatric Neurology OSCE (PG CME -Wadia)

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Pediatric Neurology OSCE (PG CME, Wadia Hospital)

Pediatric Neurology OSCE (PG CME, Wadia Hospital)

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Pediatric Neurology OSCE (PG CME -Wadia) Pediatric Neurology OSCE (PG CME -Wadia) Presentation Transcript

  • NEUROLOGY Post Graduate CME OSCE - NeurologyBai Jerbai Wadia Hospital for Chidren, Mumbai
  • 1) 4 yrs old, boy , FTND, Normal motor, mental and language milestones. Complaints from school – aggressive, cant sit in one place, restless, forgetful and impatient, problems with friends, fights• Diagnosis?• 3 cardinal features of this condition• 2 treatment options
  • • ADHD• Inattention, hyperactivity and impulsivity• Medications (methylphenidate, amphetamines, fluoxitine, atomoxitine), Behavior therapy
  • 2)This child has epilepsy, MR, ataxia, unprovoked laughter, severe speech delay• Diagnosis?• Chromosome involved• Inheritance• Name a syndrome with the same chromosomal abnormality
  • • Angelman syndrome• 15q11.2-12• Uniparental disomy – usually maternal (60- 75%) - occ. paternal - normal chromosome ? Dominant mutations• Prader Willi – 15q11-13 (paternal origin)
  • 3) 2 yrs old child born prematurely [28wks] comes with complaint of delayed achievement of motor milestones. Examination shows hypertonia with brisk reflexes in all 4 limbs more marked in lower limbs.• What is the diagnosis? Define.• What is the MRI picture?• What is the treatment and when do you start it?• Name 2 conditions this child will be at risk for?
  • • Spastic Diplegia. Increased tone in all 4 extremities and face. LL>UL> face• Periventricular leukomalacia• Early intervention• Learning disabilities,• Visual concerns• Epilepsy• Delayed mental development• Behavior concerns
  • 4.A full term ,male child develops jaundice on day 3 of life, (S. bilirubin –34 mg%)and undergoes an exchange transfusion .• What is the immediate complication likely to occur?• Where is the anatomical abnormality?• What are the long term complications?• Name 1 investigations you would insist on after discharge?
  • • Kernicterus• Globus pallidus, dentate nucleus, cerebellar vermis, cochlear nuclei• Choreoathetoid cerebral palsy, dystonic / dyskinetic CP, Sensorineural deafness,• Audiometry testing
  • 5. A child with apparently normal birth history :MS- social smile at 3 mths, Sitting at 8 months, rt hand preference at 9 mths, walking independently at 1.6 yrs.• What is your diagnosis?• What investigation will you do?• What relevant maternal history will you ask for?
  • • Congenital hemiplegia• MRI brain• Maternal injury, threatened abortion, APC resistance, coagulation problem
  • 6. Diagnosis• 3 Differential diagnosis• 3 differentiating features
  • • Ring enhancing lesion• NCC, tuberculoma, toxoplasma,• abscess, tumor• Peripheral vs central• single vs multiple• perilesional edema• smooth vs irregular• Scolex seen• Wall thickness• Intensity of cystic material
  • 7. Diagnosis• Name 2 other skin lesions• Inheritance• Other systems you would examine• Name 3 lesions seen in the brain
  • • Ash leaf macule in Tuberous sclerosis• Adenoma sebaceum , shagreen patch, café au lait spots• Autosomal dominant• Eyes, heart, kidneys, brain• Tubers, subependymal nodules, subependymal giant cell astrocytomas
  • 8. This 5 yr old comes with unsteadiness ofgait with recurrent respiratory infections.• Diagnose the condition Inheritance 3 salient features 2 lab investigations
  • • Ataxia Telangiectasia• Autosomal recessive• FEATURES: Ataxia, telangiectasia, immunodeficiency, recurrent sinopulmonary infections, X ray hypersensitivity, malignancies• LAB: Alpha feto proteins, Immunoglobulins,(low IgA, IgG, high IgM), chromosomal breaks with exposure to radiation.
  • 9. 8 yr old boy with headache, vomiting, ataxia, diplopia.• Clinical diagnosis?• MRI shows SOL• .Name 2 supra and infra tentorial SOLs• For this SOL what other abnormalities will you expect
  • • Raised ICT• Supra- Craniopharyngioma, astrocytoma, Gliomas, ganglioglioma• Infra- meduloblastoma, glioma• Craniopharygioma• Panhypopitutarism, Hypothyroidism, GH deficiency, Gonadotrophin deficiency, cortisol def.
  • 10. CSF picture Protein 1640mg% , sugar 45/92 , cells 150 P40 L60• Identify the condition• 3 pathological etiologies• 3 features on CT scan• Treatment options
  • • TBM• Ischaemia, edema, exudates• Infarct, basal exudates, hydrocephalus ( communicating /non communcating) tuberculomas,• 4 drug AKT, steroids, anti edema, shunt surgery,
  • 11. Child with fever, headache , vomiting and altered sensorium.• CSF picture :proteins 130, sugar 40/90, cells 240 P40 L 60• Give 3 differentials• Give 2 other investigations• Treatment options
  • • Partially treated pyogenic meningitis, early TBM, aseptic, viral meningitis• Latex agglutination, HSV DNA PCR, CT scan with contrast, EEG• Antibiotics, acyclovir 10 mg/kg 8 hrly for 14 days, AKT, supportive
  • 12.Child with fever , convulsions, altered sensorium CSF picture : protein 62, cells 95 P10 L90, sugars 45/80, RBCs 80/ hpf• Additional 2 investigations of choice• Treatment with dose
  • • EEG - PLEDS-periodic lateralizing epileptiform discharges• HSV PCR,( ? HSV IgG, IgM ), CT scan / MRI with contrast – bi/ uni temporal hyperintensities• Acyclovir 10mg/kg/dose 8 hrly for 14 -21 days
  • 13)1.5 yrs old child with fever and convulsions. CSF picture : proteins 80, sugar 20 /60, cells 500 , P 90 L 10.• Diagnose / 3 common organisms• Child develops tense AF with focal convulsions on day 8. Probable causes?• 3 Long term sequelae
  • • Pyogenic meningitis; pneumococci, H influenza, meningococci• Subdural empyema, cerebral absess, infarction.• Sensorineural deafness, hydrocephalus, CP, MR, Epilepsy, behavioural problems
  • 14)11 months old comes with neuroregression from 5 months of age. He is hypotonic on examination.• Name 3 systems you would like to examine?• Differentials• Give 4 DDs of cherry red spots• Investigation of choice
  • • CNS, abdominal, ophthalmology,• Krabbes, GSD [Pompes], Tay sachs, gangliosidosis• GM 1Gangliosidosis, sialidosis, tay sachs, niemann picks, sandhoffs, MLD, mucolipidosis• Leucocyte enzymes, fibroblast culture
  • 15)18 months old child comes with recurrent strokes , ptosis , ataxia and myopathy.• Diagnosis• Investigation of choice• Inheritance• Name 2 more conditions of the same metabolic category
  • • MELAS• Mitochondrial deletion study MRI with spectroscopy CSF Lactate, Blood Lactate. ABG-Anion Gap Metabolic Screen• Maternal transmission• MERRFS, Kearn Sayers, Leighs, Alpers
  • 16) 6 months old female child, FTND, has asymmetric infantile spasms, developmental retardation and choroidal lacunae. MRI clinches the diagnosis.• What is the diagnosis?• What is the MRI picture?• What is the inheritance pattern?
  • • Aicardi syndrome• Corpus callosum agenesis• Posterior choroidal cysts,• choroidal lacunae• X linked Dominant
  • 17) A boy presents with this skin lesion-Give 4 differential diagnosisWhen and how much would you investigate?
  • • Café au lait spot.• DD- NF,Mc cune albright, TS, Ataxia telangiectasia, Maffuci, any phakcomatosis, Chediak Higashi• If asymptomatic –No treatment VEP-Periodic intervals if abnormal do MRI for optic glioma• If symtomatic –VEP, MRI, EEG
  • 18) • Name the sign • 3 DDs • 3 investigations in sequence of importance • Inheritance/ locus
  • • Gowers Sign• Duchenne, SMA III, Limb girdle dystrophy, BMD, myopathy• Dystrophin gene study, EMG /NCV, CPK levels• X linked recessive/ Xp 21
  • • Diagnosis19) • 2 associated abnormalities • Classical CNS picture in CT scan and is described as • Inheritance
  • • Sturge Weber syndrome• Glaucoma, intracranial calcification, intractable epilepsy, hemangioma• Tram track calcification• Sporadic inheritance
  • • Identify• 20) • 2 salient features • Criteria for diagnosis in newborn period are called: • Child develops spastic quadriparesis.What will you suspect?
  • • Downs syndrome• Facies, congenital heart defects, hypothyroidism ,deafness, hypotonia• Halls Criteria• Atlanto-axial dislocation
  • • Diagnose• 22) • Inheritance • 2 associated abnormalities • Investigation for Raised ICT
  • • Apert syndrome• Autosomal dominant• Proptosis, syndactyly, MR• 3 D CTScan
  • • This child came• 23) with neuroregression from 7 months of age with abn hand movts • Diagnosis / DD • 3 salient features • Which milestones are delayed?
  • • Retts syndrome / Autism• Autism, stereotypies, microcephaly, loss of fine purposeful hand movements• Social, language
  • 24) 10 month old , male, presents with progressive decreased activity since 3 months of age, breathing difficulty since 8 mths and pneumonia. Examination shows alert child with hypotonia and absent reflexes.• What is the diagnosis ?• How do you confirm?• What is the inheritance?• Name 3 antenatal / natal features to ask for?
  • • SMA 1• EMG/NCV, Gene studies• SMA- AR,• Decreased fetal kick count, polyhydramnious, previous fetal loses, weak cry, resp problems at birth.
  • 25) 3 yrs old girl comes with drooping of both eyelids and squint noticed since 15 days. Abnormality seems to increase in the evenings.• Diagnosis?• Any 2 relevant questions?• How do you confirm? Name 2 relevant investigations.• Drug of choice.
  • • Myasthenia gravis• Any other activity tires with time eg. Eating, walking, speech,• Edrophonium test / Neostigmine test• Anticholinesterase antibody, EMG with repititive stimulation, CTScan chest• Pyridostigmine
  • • 26 ) Label the• parts shown
  • • Corpus callosum• Lateral ventricle• 4 th ventrricle• Pons• medulla
  • EPILEPSY
  • 1)4 Yrs old boy with normal motor and mental development becomes aphasic for last 15 days. He had a single GTC at 3.6 yrs.CNS examination is normal.• Investigation of choice• Diagnosis• Treatment options
  • • EEG• Landau Kleffner syndrome• IV Ig , Steroids, AEDs
  • 2) 6 yrs old girl with delayed development. Perinatal hypoglycemia. Symptomatic infantile spasms at 7 mths. Then focal seizures, generalised, myoclonic and now tonic.• Diagnosis?• Drugs used?• AEDs to be avoided?• Non pharmacological treatment modalities
  • • Lennox Gastaut syndrome• Valproate, Lamotrigine, Topiramate, clobazam• Carbamazepine, phenobarbitone• Corpus callosotomy, Ketogenic diet, vagal nerve stimulation
  • 3) 10 yrs old boy presents with lip smacking, facial and eye deviation on left lasting 2 minutes after falling asleep. Similar history 3 and 6 months back.• Investigation of choice?• Diagnosis?• Which investigation you need not do?• Prognosis?• Drug of choice?
  • • EEG• Rolandic epilepsy/ BECTS• MRI/Neuroimaging• Good,• Carbamazepine /oxcarbamazepine
  • 4)4 days old newborn, FTND presents with multiple multifocal seizures. He has a normal systemic examination.• DD- 3 most imp• If strong family history of neonatal seizures present, what will u think
  • • Hypocalcemia,• hypomagnesemia,• 5 th day fits,• BFNS,• hypoglycemia• BFNS
  • 5) 6 yrs old boy comes with left sided focal seizures preceded by aura of fearfulness. He has history of prolonged febrile seizures at 1 yr of age. EEG shows right temporal epileptiform activity.• What MRI picture do you expect?• Which virus has been suspected for the same lesion?• What are the treatment options?
  • • Mesial temporal sclerosis• Human herpes virus 6• Temporal lobectomy
  • 6) What does this EEG show?• What is the drug of choice?• Prognosis?• One OPD procedure to confirm diagnosis
  • • 3 Hz spike and wave activity in Absence seizure – childhood /Juvenile• Valproate, Lamotrigine, clobazam• Good in childhood, slightly less for juvenile• Hyperventilation
  • Jerk jerk
  • 7) Diagnosis• Confirmatory test• 3 therapeutic options
  • • SSPE –burst suppression pattern• CSF measles IgG• Ribavarine, interferons, inosiplex, amantidine
  • 8) Diagnosis• Commonest etiology• Drug of choice
  • • PLEDS• Herpes encephalitis• Acyclovir
  • 9) 6 yr old male admitted with prolonged generalised seizures.• Immediate AEDs –name 2 with dose• 2nd line AEDs –2 with dose• 3rd line – name 2
  • • Lorazepam [0.05mg/kg],• Diazepam [0.3mg/kg],• midazolam[ 0.2mg/kg]• Phenytoin[ 20mg/kg],• phenobarb[20/kg]• Midazolam drip,• propofol,• thiopentol
  • 10) 6 months old child with h/o perinatal insult comes with regression of social milestones and clusters of startles on awakening .• Diagnosis• Name 2 investigations you will ask for?
  • • Infantile spasms, West syndrome• EEG, MRI• Hypsarrhythmia• ACTH / steroids, Vigabatrin, Valproate /Topiramate / Nitrazepam
  • 11) SODIUM VALPROATE• Each 5ml of syrup contains• Commonest 3 side effects• Contraindicated in• Synergistic activity with• Dosage range• With Lamotrigine what precautions Are needed?
  • • 200 mg, or 40 mg/ml• Weight gain, hair loss, hepatotoxic, PCOD, hirsutism, hyperammonemia• Inherited Metabolic disorder, underlying liver dysfunction• Lamotrigine• 10-40 mg/kg/day• Cut the dose of VPA when adding LMT
  • 12) Topiramate• 2 indications• 2 side effects• Contraindicated in• Tablet strength? Syrup? Any other preparation known?
  • • Generalised, partial, Infantile spasms, LGS• Wt loss, word finding difficulty – speech regression, blurred vision, renal calculi, hyperthermia• thin children, speech concerns• 25 / 50 / 100mg. No syrup. Sprinkle
  • 13) Carbamazepine• Commonest side effects• Not used in• Higher derivative with advantage• Syrup strength
  • • Ataxia , diplopia, rash, hyponatremia, cognitive decline, behavior concerns• Absence, myoclonic• Oxcarbazepine, less side effects• 5ml = 100mg
  • 14)Lamotrigine• Indication, Dose• Synergistic with?• What dosage modification done?• Life threatening side effect?
  • • Partial, generalied, LGS, JME;• 3-7 mg/kg/d• Valproate,• Reduce the dose of VPA prior to starting• Steven Johnson syndrome
  • • 15)Name 3 newer AEDs• Name a carbonic anhydrase inhibitor used as AED
  • • Ocarbamazepine, Topiramate, Lamotrigine, Vigabatrine, Gabapentine, Zonisamide, Leviteracetam, Felbamate, Tiagabine• Acetazolamide, Topiramate
  • 16) 3 months baby has intractable epilepsy since birth and delayed development• Name 2 vitamins you can try• Does not respond to them – what investigation next
  • • Pyridoxine• Biotin• Metabolic workup, MRI – dysplasia, metabolic
  • 17) 1st unprovoked generalised seizure in a 2 yr old child• Essential investigation• Optional investigation• Treatment of choice
  • • EEG• MRI, biochemistry, CSF• Nil , unless specific indication
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