Pediatric Neurology Quiz July 2023

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

Vaccine Related Adverse Effects

• 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

Mitochondrial Inheritance

• Kearns Sayre syndrome is a mitochondrial inherited disease

Brown-Vailant-Von Layre Syndrome

• Brown-Vailant-Von Layre syndrome is a tubulinopathy

HIE Staging

• HIE stage 2 at 12 hrs of life with seizures, hypotonia, lethargy, and mydriasis

Reflexes

• Parachute reflex does not disappear

Developmental Age

• 6-7 months

Ataxia Telangiectasia

• Raised AFP levels are seen in Ataxia Telangiectasia

FGFR23 Independent Hypophosphatemic Rickets

• NAPI 2C defect is an FGFR23 independent hypophosphatemic rickets

Image Identification

• The image is a subdural hematoma

Euvolemic Hyponatremia

• Post-op, cerebral salt wasting syndrome, hypothyroidism, and adrenal insufficiency can cause euvolemic hyponatremia

Fluid Choice for DKA Resuscitation

• Half NS with 20meq/l KCL is the correct choice

Neonatal Resuscitation

• Increase to 100% FIO2 after 30s in neonatal resuscitation

Unusually Intense Eye Gaze

• Unusually intense eye gaze is seen in autism

Test your knowledge on pediatric neurology with this quiz covering various conditions and their characteristics, including spasmus nutans, absence seizures, and more. Dive into key concepts such as mutation implications and EEG findings. Perfect for medical students or professionals looking to refresh their understanding.