NEUROLOGY

Post Graduate CME Neurology
Bai 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 (methyl phenidate, amphetamines, fluoxitine, atomoxitine), Behavior therapy

unprovoked laughter. severe speech delay • • • • Diagnosis? Chromosome involved Inheritance Name a syndrome with the same chromosomal abnormality . MR. ataxia.2)This child has epilepsy.

• Angelman syndrome • 15q11.occ.2-12 • Uniparental disomy – usually maternal (6075%) . paternal .normal chromosome ? Dominant mutations • Prader Willi – 15q11-13 (paternal origin) .

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? . Examination shows hypertonia with brisk reflexes in all 4 limbs more marked in lower limbs. • • • • What is the diagnosis? Define.3) 2 yrs old child born prematurely [28wks] comes with complaint of delayed achievement of motor milestones.

Visual concerns Epilepsy Delayed mental development Behavior concerns .• Spastic Diplegia. Increased tone in all 4 extremities and face. LL>UL> face • Periventricular leukomalacia • Early intervention • • • • • Learning disabilities.

• 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? . (S.A full term .4.male child develops jaundice on day 3 of life. bilirubin –34 mg%)and undergoes an exchange transfusion .

cerebellar vermis. dystonic / dyskinetic CP. cochlear nuclei • Choreoathetoid cerebral palsy. • Audiometry testing . Sensorineural deafness.• Kernicterus • Globus pallidus. dentate nucleus.

walking independently at 1.6 yrs.5. Sitting at 8 months.social smile at 3 mths. rt hand preference at 9 mths. • • • What is your diagnosis? What investigation will you do? What relevant maternal history will you ask for? . A child with apparently normal birth history :MS.

APC resistance. threatened abortion. coagulation problem .• Congenital hemiplegia • MRI brain • Maternal injury.

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6. Diagnosis • 3 Differential diagnosis • 3 differentiating features .

• abscess. toxoplasma.• Ring enhancing lesion • NCC. tumor • • • • • • • Peripheral vs central single vs multiple perilesional edema smooth vs irregular Scolex seen Wall thickness Intensity of cystic material . tuberculoma.

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7. Diagnosis • • • • Name 2 other skin lesions Inheritance Other systems you would examine Name 3 lesions seen in the brain .

subependymal nodules. heart. brain • Tubers. shagreen patch. kidneys. café au lait spots • Autosomal dominant • Eyes.• Ash leaf macule in Tuberous sclerosis • Adenoma sebaceum . subependymal giant cell astrocytomas .

8. • Diagnose the condition Inheritance 3 salient features 2 lab investigations . This 5 yr old comes with unsteadiness of gait with recurrent respiratory infections.

(low IgA. telangiectasia. malignancies • Alpha feto proteins. recurrent sinopulmonary infections. chromosomal breaks with exposure to radiation.• Ataxia Telangiectasia • Autosomal recessive • Ataxia. X ray hypersensitivity. Immunoglobulins. high IgM). immunodeficiency. IgG. .

Name 2 supra and infra tentorial SOLs • For this SOL what other abnormalities will you expect . 8 yr old boy with headache. vomiting. diplopia. ataxia. • Clinical diagnosis? • MRI shows SOL • .9.

• Raised ICT • Supra. astrocytoma. GH deficiency. cortisol def. Gonadotrophin deficiency. Gliomas.meduloblastoma.Craniopharyngioma. ganglioglioma • Infra. Hypothyroidism. . glioma • Craniopharygioma • Panhypopitutarism.

10. sugar 45/92 . CSF picture Protein 1640mg% . cells 150 P40 L60 • • • • Identify the condition 3 pathological etiologies 3 features on CT scan Treatment options .

anti edema. exudates • Infarct. shunt surgery. • 4 drug AKT. edema. basal exudates. steroids. hydrocephalus ( communicating /non communcating) tuberculomas. .• TBM • Ischaemia.

11. sugar 40/90. vomiting and altered sensorium. • CSF picture :proteins 130. Child with fever. cells 240 P40 L 60 • Give 3 differentials • Give 2 other investigations • Treatment options . headache .

viral meningitis • Latex agglutination. HSV DNA PCR. supportive . AKT. EEG • Antibiotics. aseptic. acyclovir 10 mg/kg 8 hrly for 14 days. early TBM.• Partially treated pyogenic meningitis. CT scan with contrast.

convulsions.12. sugars 45/80. cells 95 P10 L90. RBCs 80/ hpf • Additional 2 investigations of choice • Treatment with dose . altered sensorium CSF picture : protein 62.Child with fever .

IgM ).( ? HSV IgG.PLEDS-periodic lateralizing epileptiform discharges • HSV PCR. CT scan / MRI with contrast – bi/ uni temporal hyperintensities • Acyclovir 10mg/kg/dose 8 hrly for 14 -21 days .• EEG .

5 yrs old child with fever and convulsions.13)1. • Diagnose / 3 common organisms • Child develops tense AF with focal convulsions on day 8. CSF picture : proteins 80. Probable causes? • 3 Long term sequelae . P 90 L 10. sugar 20 /60. cells 500 .

meningococci • Subdural empyema. hydrocephalus. behavioural problems . MR. CP. pneumococci.• Pyogenic meningitis. H influenza. • Sensorineural deafness. cerebral absess. Epilepsy. infarction.

14)11 months old comes with neuroregression from 5 months of age. • Name 3 systems you would like to examine? • Differentials • Give 4 DDs of cherry red spots • Investigation of choice . He is hypotonic on examination.

niemann picks. abdominal. Tay sachs. fibroblast culture . GSD [Pompes]. sialidosis.• CNS. tay sachs. mucolipidosis • Leucocyte enzymes. sandhoffs. • Krabbes. ophthalmology. gangliosidosis • GM 1Gangliosidosis. MLD.

ptosis . • • • • Diagnosis Investigation of choice Inheritance Name 2 more conditions of the same metabolic category .15)18 months old child comes with recurrent strokes . ataxia and myopathy.

ABG-Anion Gap Metabolic Screen • Maternal transmission • MERRFS. Alpers . Leighs. Blood Lactate. Kearn Sayers.• MELAS • Mitochondrial deletion study MRI with spectroscopy CSF Lactate.

FTND. has asymmetric infantile spasms. developmental retardation and choroidal lacunae.16) 6 months old female child. • What is the diagnosis? • What is the MRI picture? • What is the inheritance pattern? . MRI clinches the diagnosis.

• choroidal lacunae • X linked Dominant .• Aicardi syndrome • Corpus callosum agenesis • Posterior choroidal cysts.

17) A boy presents with this skin lesionGive 4 differential diagnosis When and how much would you investigate? .

NF. MRI. Chediak Higashi • If asymptomatic –No treatment VEP-Periodic intervals if abnormal do MRI for optic glioma • If symtomatic –VEP. Ataxia telangiectasia. any phakcomatosis.Mc cune albright. TS. • DD. Maffuci.• Café au lait spot. EEG .

18) • Name the sign • 3 DDs • 3 investigations in sequence of importance • Inheritance/ locus .

Limb girdle dystrophy. myopathy • Dystrophin gene study. CPK levels • X linked recessive/ Xp 21 .• Gowers Sign • Duchenne. SMA III. EMG /NCV. BMD.

19) • Diagnosis • 2 associated abnormalities • Classical CNS picture in CT scan and is described as • Inheritance .

intractable epilepsy. intracranial calcification. hemangioma • Tram track calcification • Sporadic inheritance .• Sturge Weber syndrome • Glaucoma.

• Identify • 20) • 2 salient features • Criteria for diagnosis in newborn period are called: • Child develops spastic quadriparesis.What will you suspect? .

congenital heart defects.deafness.• Downs syndrome • Facies. hypothyroidism . hypotonia • Halls Criteria • Atlanto-axial dislocation .

• Diagnose • 22) • Inheritance • 2 associated abnormalities • Investigation for Raised ICT .

MR • 3 D CTScan . syndactyly.• Apert syndrome • Autosomal dominant • Proptosis.

• 23) • This child came 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. loss of fine purposeful hand movements • Social. language . microcephaly.

presents with progressive decreased activity since 3 months of age. Examination shows alert child with hypotonia and absent reflexes. breathing difficulty since 8 mths and pneumonia.24) 10 month old . male. • • • • What is the diagnosis ? How do you confirm? What is the inheritance? Name 3 antenatal / natal features to ask for? .

Gene studies • SMA. • Decreased fetal kick count.AR. previous fetal loses. polyhydramnious. .• SMA 1 • EMG/NCV. 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

generalised. Perinatal hypoglycemia. • • • • Diagnosis? Drugs used? AEDs to be avoided? Non pharmacological treatment modalities . Symptomatic infantile spasms at 7 mths. myoclonic and now tonic.2) 6 yrs old girl with delayed development. Then focal seizures.

Ketogenic diet. Lamotrigine. Topiramate. vagal nerve stimulation . clobazam • Carbamazepine.• Lennox Gastaut syndrome • Valproate. phenobarbitone • Corpus callosotomy.

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? .3) 10 yrs old boy presents with lip smacking.

• Carbamazepine /oxcarbamazepine .• EEG • Rolandic epilepsy/ BECTS • MRI/Neuroimaging • Good.

He has a normal systemic examination. what will u think . • DD. FTND presents with multiple multifocal seizures.3 most imp • If strong family history of neonatal seizures present.4)4 days old newborn.

hypoglycemia • BFNS . hypomagnesemia.• • • • • Hypocalcemia. 5 th day fits. BFNS.

5) 6 yrs old boy comes with left sided focal seizures preceded by aura of fearfulness. • What MRI picture do you expect? • Which virus has been suspected for the same lesion? • What are the treatment options? . EEG shows right temporal epileptiform activity. He has history of prolonged febrile seizures at 1 yr of age.

• Mesial temporal sclerosis • Human herpes virus 6 • Temporal lobectomy .

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6) What does this EEG show? • What is the drug of choice? • Prognosis? • One OPD procedure to confirm diagnosis .

Lamotrigine. clobazam • Good in childhood. slightly less for juvenile • Hyperventilation .• 3 Hz spike and wave activity in Absence seizure – childhood /Juvenile • Valproate.

Jerk jerk .

7) Diagnosis • Confirmatory test • 3 therapeutic options .

inosiplex.• SSPE –burst suppression pattern • CSF measles IgG • Ribavarine. interferons. amantidine .

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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 .

• midazolam[ 0.2mg/kg] • Phenytoin[ 20mg/kg]. • thiopentol . • propofol.• Lorazepam [0. • Diazepam [0.05mg/kg]. • phenobarb[20/kg] • Midazolam drip.3mg/kg].

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. MRI Hypsarrhythmia ACTH / steroids. Valproate /Topiramate / Nitrazepam . Vigabatrin. West syndrome EEG.

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? .

hirsutism. hepatotoxic. hair loss. or 40 mg/ml • Weight gain.• 200 mg. underlying liver dysfunction • Lamotrigine • 10-40 mg/kg/day • Cut the dose of VPA when adding LMT . hyperammonemia • Inherited Metabolic disorder. PCOD.

12) Topiramate • • • • 2 indications 2 side effects Contraindicated in Tablet strength? Syrup? Any other preparation known? .

word finding difficulty – speech regression. hyperthermia • thin children. Infantile spasms. Sprinkle . partial. blurred vision. No syrup. speech concerns • 25 / 50 / 100mg.• Generalised. renal calculi. LGS • Wt loss.

13) Carbamazepine • • • • Commonest side effects Not used in Higher derivative with advantage Syrup strength .

less side effects • 5ml = 100mg . rash. diplopia. cognitive decline. myoclonic • Oxcarbazepine. hyponatremia. behavior concerns • Absence.• Ataxia .

Dose Synergistic with? What dosage modification done? Life threatening side effect? .14)Lamotrigine • • • • Indication.

• 3-7 mg/kg/d • Valproate. • Reduce the dose of VPA prior to starting • Steven Johnson syndrome . LGS. JME. generalied.• Partial.

• 15)Name 3 newer AEDs • Name a carbonic anhydrase inhibitor used as AED .

Topiramate. Felbamate. Tiagabine • Acetazolamide.• Ocarbamazepine. Vigabatrine. Topiramate . Lamotrigine. Zonisamide. Leviteracetam. Gabapentine.

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 .

metabolic . MRI – dysplasia.• Pyridoxine • Biotin • Metabolic workup.

17) 1st unprovoked generalised seizure in a 2 yr old child • Essential investigation • Optional investigation • Treatment of choice .

CSF • Nil .• EEG • MRI. biochemistry. unless specific indication .