Pediatric Neurology Quiz July 2023

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Questions and Answers

Which of these conditions is known for causing generalized tremulousness?

Wilson’s disease

Pyridoxine dependency (correct)

Rabies

DOK7

What is the false statement regarding neuroinfections?

Rabies localizes in the anterior horn cell

NCC is always detected on MRI

NCC is more common than TB for infratentorial location (correct)

TB has lipid peak in MRS

In which condition would you expect the EEG findings to show 3 Hz SWD on eye closure?

Severe myoclonic epilepsy

Absence epilepsy

Tassinari syndrome (correct)

Lafora body disease

Which of the following AEDs does not act on calcium channels?

Levetiracetam Signup and view all the answers

Which of the following mutations is associated with progressive myoclonic epilepsy in Lafora body disease?

EPM2A Signup and view all the answers

What abnormal sleep-related characteristic is least likely to be associated with excessive daytime sleepiness and ADHD?

REM latency 140 min Signup and view all the answers

Which feature is not typical for narcolepsy type 1 criteria?

Exogenous steroids Signup and view all the answers

In a 3-year-old child with encephalopathy following a viral infection, what is the likely condition associated with caudate putamen involvement?

ANEC Signup and view all the answers

What is a true statement regarding cardiac rhabdomyomas in male patients with tuberous sclerosis?

Cardiac rhabdomyomas regress with age Signup and view all the answers

In the context of congenital myasthenia, which factor is NOT diagnostic?

Decremental response greater than 10% Signup and view all the answers

In the case of a 3-year-old male with fever, hepatosplenomegaly, and lymphadenopathy, which diagnosis is likely?

Acute leukemia Signup and view all the answers

What condition is Indomethacin NOT typically used for?

Cervicogenic headache Signup and view all the answers

Which diagnosis is indicated by a urine osmolarity response to vasopressin that is less than expected?

Nephrogenic diabetes insipidus Signup and view all the answers

In the case of incidental Hepatitis B detected pretonsillectomy, which is the best next step?

Watch and follow up with LFTs Signup and view all the answers

What is the likely next step for a patient with positive AFB and gene xpert, and isolated left axillary lymphadenopathy?

Start ATT treatment immediately Signup and view all the answers

Which of the following adverse effects is NOT related to vaccines?

Measles - Anaphylaxis Signup and view all the answers

Which statement regarding Amyotrophic Lateral Sclerosis is false?

VLCFA is a hallmark. Signup and view all the answers

In the case of a boy with quadriparesis and altered sensorium, which statement is false?

Diagnosis is ADEM. Signup and view all the answers

The loss of cup of optic disc is associated with which condition?

Papilledema. Signup and view all the answers

Which condition would NOT typically cause a relative afferent pupillary defect (RAPD)?

Retinal detachment. Signup and view all the answers

Below imaging reveals an issue in the MCA territory. Which cause is incorrect?

Hypoxia. Signup and view all the answers

In a case of a girl with stroke-related left hemiparesis, which explanation is misleading?

Rt ACA has more LL involved. Signup and view all the answers

Visual hallucination is a side effect of which medication?

Voriconazole. Signup and view all the answers

For dialysis in DSS with oliguria on day 4, which indication is incorrect?

Low potassium levels. Signup and view all the answers

Which condition is characterized by a mutation in the KCNJ11 or ABCC8 genes related to permanent neonatal diabetes?

M.c mutation Signup and view all the answers

What would be the best treatment for a 3-year-old with recurrent wheezing more than three times in the past 3 months?

Start inhaled budesonide Signup and view all the answers

Which of the following reflexes does not typically disappear with age?

Parachute reflex Signup and view all the answers

Which of these conditions is NOT associated with euvolemic hyponatremia?

Postoperative state Signup and view all the answers

At what time after initiating neonatal resuscitation should 100% FIO2 be increased?

60 seconds Signup and view all the answers

Which condition is characterized by a mitochondrial inheritance pattern?

Kearns Sayre syndrome Signup and view all the answers

Which of the following is a known common cause of opticochiasmatic arachnoiditis?

TB meningitis Signup and view all the answers

What condition is described by violent flinging movements of limbs, indicating a lesion in which part of the brain?

Contralateral subthalamic nucleus Signup and view all the answers

Study Notes

Spasmus Nutans

Not seen in INI SS Pediatric Neurology July 2023 session recall
Triad includes nystagmus, head nodding, and torticollis

Rabies Localization

Localizes in the brainstem

CMS Worsened with Pyridoxine

Suggests DOK7 mutation

NCC vs TB

NCC is more common than TB for infratenrorial location is false

Benign Infantile Convulsion

Likely mutation for SCN1B
No family history, resolution by 3 years, and normal MRI

Tassinari Syndrome

Characteristic EEG findings include 3Hz SWD on eye closure and 4-6Hz SWD on hyperventilation

9yr old Absence Seizures with Limb Jerks

Normal background EEG is possible
3Hz spike and wave discharges on hyperventilation is possible
3Hz spike and wave discharges on photic stimulation is possible

AEDs Acting on Calcium Channels

Levera acts on calcium channels
Carbamazepine, gabapentin do not act on calcium channels

Prolonged TPN

Abnormal gait and Parkinsonian-like features can indicate manganese toxicity

14yr Girl with Dysarthria and Dystonia

T2 MRI showing caudate and putamen hyperintensity suggests Wilson’s disease

Progressive Myoclonic Epilepsy with PAS Positive Inclusions

Lafora body disease mutation is in EPM2B

Altered Sensorium, Akinetic Mutism

H/o fever, cough, and coryza suggests ANEC

3yr Old with Encephalopathy and Family History

Encephalitis lethargica with RANBP2 mutation can cause family history

Newer AEDs Excreted by Kidney

Zonisamide, lamotrigine, gabapentin, pregabalin, vigabatrin, and topiramate are excreted by the kidney

Excess Daytime Sleepiness

REM latency of 140 min is abnormal
AHI of 4 is abnormal
Sleep efficiency of 80% is abnormal
Periodic leg movement index of 11 is abnormal

Narcolepsy

CSF hypocretin of 140 pg/ml is abnormal
Cataplexy is a diagnostic criteria
SOREMP>2 is a diagnostic criteria
MSLT 97th centile and BP > 90th centile is a diagnostic criteria

Amyotrophic Lateral Sclerosis

AAAS gene mutation with ALADIN protein is true
Addisonian crisis is possible
VLCFA is a hallmark

Sural Sparing Pattern

Sural sparing pattern is typical in diabetic neuropathy

Boy with Quadriparesis and MRI Findings

Does not fulfil criteria for DT
TOC is IV methylprednisolone followed by oral steroids
Decision on subsequent immunomodulation is based on further imaging after 4-6 weeks
Diagnosis is NOT ADEM

Cup of Optic Disc

Cup of the optic disc is lost in primary and secondary optic atrophy

RAPD

RAPD is due to impaired signaling to the Edinger-Westphal nucleus

MRI Image

The provided MRI image is in MCA territory

Girl with Stroke

Stroke causing left hemiparesis with more weakness of the left arm and face, dysgraphia, and impaired 2-point discrimination suggests right ACA (has more LL involvement)

Visual Hallucination

Visual hallucination is a side effect of voriconazole

DSS with Oliguria

Evidence-based indication to start RRT is pH < 7.25

Regulator of Alternate Complement Pathway

Factor H is the most important regulator of the alternative complement pathway

Thomsen vs Becker Myotonia

Thomsen myotonia has early childhood onset, Becker myotonia does not

9yr Old with Limb-Girdle Weakness

Sarcoglycanopathy and calpainopathy can cause limb-girdle weakness, toe walking, and scapular winging

Male with Tuberous Sclerosis

Cardiac rhabdomyomas regress with age
Leiyomyomatosis is a hallmark of tuberous sclerosis

Congenital Myasthenia

Decremental response > 10% is diagnostic
Baseline decrement can be seen in some
Post-exhaustion weakness and decremental response starts in 5 min
Post-exercise incremental response is seen in some patients

3yr Male with Fever

The scenario suggests acute leukemia
SOJIA is also possible

Indomethacin

Indomethacin is effective in cluster headache and paroxysmal hemicrania

Demyelinating Diseases

Tomaculous neuropathy (hypermyelinating) is NOT a demyelinating disease

Polyuria with Polydipsia

The best treatment is nasal desmopressin

Incidental Hepatitis B

The best course of action is wait and watch and follow up with LFTs

Isolated Left Axillary LN

Start ATT treatment for 6 months

Ketogenic Diet

Ketogenic diet is contraindicated in fatty acid oxidation defects, porphyria, carnitine palmitoyltransferase deficiency, and phosphofructokinase deficiency

12yr Girl with Abdominal Pain

Acute intermittent Porphyria is a likely diagnosis

Extravascular Hemolysis

High LDH, high indirect bilirubin, high reticulocyte count, and hemoglobinuria are seen in extravascular hemolysis

Pertussis-encephalopathy is a known vaccine-related adverse effect

Publication Bias

Funnel plot is used to identify publication bias

30 Day Old with High TLC

Leukocyte adhesion defect is a likely diagnosis

Violent Flinging Movements

Violent flinging movements of limbs are due to a lesion in the contralateral subthalamic nucleus

Optic Chiasmatic Arachnoiditis

TB meningitis is the most common cause of opticochiasmatic arachnoiditis

Neurons Relaying in Thalamus

Olfactory neurons do NOT relay in the thalamus

Mitochondrial Inheritance

Mitochondrial Pedigree will show maternal transmission

3yr Old with Recurrent Wheeze

Start inhaled budesonide

Round Pneumonia

Strep pneumoniae is a common cause of round pneumonia

Permanent Neonatal Diabetes

ABCC8 mutation is the most common for permanent neonatal diabetes

ABG Kept in Room Air

Late processing of ABG will show reduced pH, pO2 and increased pCO2