1
Q
What are the key features of Febrile Seizures?
A
• Age: 6 months to 5 years
• No CNS infection
• No metabolic disturbances
• No history of afebrile seizures
2
Q
A child experiences a generalized seizure that lasts for 10 minutes and does not recur within 24 hours. The child has no CNS infection. What type of seizure is this?
A. Complex febrile seizure
B. Absence seizure
C. Simple febrile seizure
D. Myoclonic seizure
A
C. Simple febrile seizure
3
Q
Which of the following increases the risk of epilepsy after a febrile seizure?
A. Having a single simple febrile seizure
B. Recurrent febrile seizures
C. Febrile seizure associated with a fever <1 hour
D. All of the above
A
D. All of the above
4
Q
Which of the following is a characteristic of complex febrile seizures?
A. Duration < 15 minutes
B. No recurrence within 24 hours
C. Can have focal features
D. Always generalized without focal features
A
C. Can have focal features
5
Q
What is the primary management for simple febrile seizures?
A. Immediate EEG
B. Lumbar puncture
C. Supportive care and treatment of underlying fever
D. High-dose anticonvulsants
A
C. Supportive care and treatment of underlying fever
6
Q
What is the most common type of seizure in children?
A
Febrile seizures
7
Q
Which of the following is NOT a risk factor for febrile seizures?
A. Family history of febrile seizures
B. Vaccination with MMR, DTP, and influenza vaccines
C. Neurodevelopmental delays
D. Presence of CNS infection
A
D. Presence of CNS infection
8
Q
What are the characteristics of Simple Febrile Seizures?
A
• Generalized
• Duration: Less than 15 minutes
• Recurrence: Does not recur within 24 hours
• Focal features: Absent
9
Q
Which of the following is NOT a required criterion for the diagnosis of febrile seizures?
A. Age between 6 months and 5 years
B. Absence of CNS infection
C. Prior history of afebrile seizures
D. Absence of metabolic disturbances
A
C. Prior history of afebrile seizures
10
Q
Which vaccine is associated with a temporary increased risk of febrile seizures?
A. Hepatitis B
B. MMR
C. Varicella
D. Pneumococcal
A
B. MMR
11
Q
When is lumbar puncture indicated in febrile seizures?
A
• Age <12 months not vaccinated
•Age less than 6 months
• Prolonged complex febrile seizures
• Prior antibiotic use (which may mask meningitis)
12
Q
Are EEG and imaging needed in simple febrile seizures?
A
• EEG: Not needed
• Imaging: Not routinely indicated
• Focus is on evaluating the fever, not the seizure
13
Q
What is the clinical importance of distinguishing between simple and complex febrile seizures?
A
• Complex seizures have higher risk of future epilepsy
• May warrant further investigations (e.g., LP, imaging)
14
Q
A 10-month-old has two febrile seizures in one day, both lasting about 8 minutes and showing focal left-sided jerking. This is best classified as:
A. Simple febrile seizure
B. Absence seizure
C. Complex febrile seizure
D. Infantile spasm
A
C. Complex febrile seizure
15
Q
Which factor increases the risk of developing epilepsy in children with febrile seizures?
A. Simple febrile seizure
B. Family history of epilepsy
C. Febrile seizure lasting < 5 minutes
D. Febrile seizure without focal features
A
B. Family history of epilepsy
16
Q
A child had a complex febrile seizure lasting 20 minutes. What is the most likely outcome regarding epilepsy development?
A. No risk for future epilepsy
B. 2-10% risk of developing epilepsy
C. 18% risk of developing epilepsy
D. 33% risk of developing epilepsy
A
B. 2-10% risk of developing epilepsy
17
Q
Which of the following is NOT considered a risk factor for developing epilepsy after a febrile seizure?
A. Recurrent febrile seizures
B. Family history of epilepsy
C. Age > 5 years at first febrile seizure
D. Focal features during the seizure
A
C. Age > 5 years at first febrile seizure
18
Q
What is the typical age of onset for infantile spasms?
A
Between 4 and 7 months of age.
19
Q
How do infantile spasms present clinically?
A
• Sudden, brief contractions of neck, trunk, and limbs (often described as “self-hugging”)
• Lasts 5–10 seconds, with relaxation 0.2–2 seconds
• Occur in clusters lasting from under 1 minute to up to 10–15 minutes
• Often associated with crying, especially before sleep, upon awakening, or throughout the day
20
Q
What conditions are commonly associated with infantile spasms?
A
• Tuberous sclerosis
• Hypoxic-Ischemic Encephalopathy (HIE)
21
Q
What is the treatment of choice for infantile spasms?
A
• ACTH (Adrenocorticotropic hormone) is first-line
• Vigabatrin is preferred in cases associated with Tuberous Sclerosis
22
Q
What is the prognosis if infantile spasms are not treated early?
A
Increased risk of developmental delay and intellectual disability
23
Q
Which of the following EEG findings is diagnostic of infantile spasms?
A. Spike and wave pattern
B. Hypsarrhythmia
C. Generalized slow waves
D. Triphasic waves
A
B. Hypsarrhythmia
24
Q
A 6-month-old infant presents with clusters of sudden flexion of the neck and arms, mostly in the morning. EEG shows high amplitude and chaotic activity. What is the most appropriate treatment?
A. Phenytoin
B. ACTH
C. Carbamazepine
D. Phenobarbital
A
B. ACTH
25
In a child with infantile spasms and confirmed tuberous sclerosis, which medication is preferred?
A. ACTH
B. Valproic acid
C. Vigabatrin
D. Lamotrigine
C. Vigabatrin
26
What is not a component of the classic triad of West syndrome?
A. Infantile spasms
B. Developmental regression
C. Hypsarrhythmia on EEG
D. Febrile seizures
D. Febrile seizures
27
Which of the following is a poor prognostic indicator in infantile spasms?
A. Early diagnosis
B. Normal development before onset
C. Delayed or ineffective treatment
D. Response to ACTH
C. Delayed or ineffective treatment
28
What is the typical age of onset for childhood absence epilepsy (CAE)?
Onset is usually between 5 and 8 years of age.
29
What are the classic clinical features of absence seizures?
• Sudden staring and behavioral arrest
• May include eyelid fluttering or blinking
• Episodes last a few seconds with rapid return to baseline
• Occur multiple times daily
30
How do absence seizures impact academic performance?
Due to brief memory lapses, children may show academic decline, especially in attention and performance at school.
31
What provokes absence seizures during clinical evaluation?
Hyperventilation for 2–3 minutes can reliably provoke an episode during EEG testing.
32
A 7-year-old girl is noted to stare blankly for a few seconds multiple times per day. There is no postictal confusion. Which feature best supports absence seizures?
A. Occurrence during sleep
B. Postictal confusion
C. Preceded by aura
D. Provoked by hyperventilation
D. Provoked by hyperventilation
33
Which of the following symptoms is most characteristic of childhood absence epilepsy?
A. Focal jerking with preserved awareness
B. Sudden staring and eyelid fluttering
C. Prolonged tonic posturing
D. Loss of consciousness with limb stiffening
B. Sudden staring and eyelid fluttering
34
What is the classic EEG finding in childhood absence epilepsy?
3 Hz generalized spike-and-wave discharges on a normal background.
35
What is the first-line treatment for childhood absence epilepsy?
Ethosuximide is the drug of choice, especially if absence seizures are the only seizure type.
36
Which statement about the prognosis of childhood absence epilepsy is most accurate?
A. Most children will require lifelong treatment
B. Seizures typically worsen with age
C. Majority will outgrow the condition in adolescence
D. Intellectual disability is common
C. Majority will outgrow the condition in adolescence
37
What is another name for Benign Epilepsy with Centrotemporal Spikes (BECTS)?
Benign Rolandic Epilepsy (BRE)
38
What is the typical age of onset for BECTS?
Between 3 to 10 years of age.
39
What are the hallmark clinical features of BECTS seizures?
• Facial twitching, salivation, and speech arrest
• Most seizures occur during sleep (nocturnal)
• These are focal seizures
40
Is treatment always required in BECTS?
• No. Treatment is not mandatory because seizures are usually nocturnal and infrequent.
• Carbamazepine is first-line if treatment is chosen.
41
A 7-year-old boy has nighttime seizures involving facial twitching and inability to speak. EEG shows centrotemporal spikes. What is the most likely diagnosis?
A. Childhood absence epilepsy
B. Benign Rolandic Epilepsy
C. Infantile spasms
D. Juvenile myoclonic epilepsy
B. Benign Rolandic Epilepsy
42
Which of the following EEG findings is characteristic of BECTS?
A. 3 Hz spike-and-wave discharges
B. Occipital discharges with photosensitivity
C. Centrotemporal spikes activated by sleep
D. Diffuse slow waves
C. Centrotemporal spikes activated by sleep
43
What is the typical age of onset for Juvenile Myoclonic Epilepsy?
Usually between 12–18 years of age (adolescence).
44
What is the hallmark EEG finding in JME?
Generalized polyspike-and-wave discharges at 4–6 Hz.
45
What is the long-term prognosis of JME?
Life-long risk of seizures, especially if non-adherent to therapy or exposed to triggers.
46
A 16-year-old wakes up with sudden, involuntary arm jerks. She later develops a generalized tonic-clonic seizure after a sleepover. What is the most likely diagnosis?
A. Childhood absence epilepsy
B. Juvenile myoclonic epilepsy
C. Benign rolandic epilepsy
D. Temporal lobe epilepsy
B. Juvenile myoclonic epilepsy
47
Which EEG pattern is typical in JME?
A. 3 Hz spike-and-wave
B. Centrotemporal spikes
C. 4–6 Hz polyspike-and-wave discharges
D. Hypsarrhythmia
C. 4–6 Hz polyspike-and-wave discharges
48
What is the best treatment for a newly diagnosed case of juvenile myoclonic epilepsy?
A. Carbamazepine
B. Valproic acid
C. Phenobarbital
D. Ethosuximide
B. Valproic acid
49
Which of the following is true regarding the prognosis of JME?
A. Seizures usually resolve by adulthood
B. Seizures are limited to childhood
C. Lifelong treatment is often needed
D. Neurodevelopmental regression is common
C. Lifelong treatment is often needed
50
What is the typical age of onset for Lennox-Gastaut Syndrome?
Childhood, typically between 3 to 5 years of age.
51
What is the EEG hallmark of LGS?
Diffuse slow spike-and-wave discharges at 1.5–2.5 Hz.
52
How is Lennox-Gastaut Syndrome typically treated?
• Multiple antiepileptic medications, often in combination
• Ketogenic diet may help
• Corpus callosotomy may be considered in refractory atonic seizures.
53
What is the prognosis for patients with LGS?
Poor; most have refractory epilepsy and intellectual disability.
54
A 4-year-old child presents with frequent tonic and atonic seizures. EEG shows generalized slow spike-and-wave discharges at 2 Hz. What is the most likely diagnosis?
A. Childhood absence epilepsy
B. Infantile spasms
C. Lennox-Gastaut Syndrome
D. Juvenile myoclonic epilepsy
C. Lennox-Gastaut Syndrome
55
What is a key EEG finding in Lennox-Gastaut Syndrome?
A. 3 Hz spike-and-wave
B. Centrotemporal spikes
C. 4–6 Hz polyspikes
D. 1.5–2.5 Hz slow spike-and-wave
D. 1.5–2.5 Hz slow spike-and-wave
56
Which of the following is true regarding management of LGS?
A. Valproic acid alone is typically curative
B. Surgical treatment is contraindicated
C. Ketogenic diet and corpus callosotomy are potential options
D. EEG is not helpful in diagnosis
C. Ketogenic diet and corpus callosotomy are potential options
57
Which statement best describes the prognosis of Lennox-Gastaut Syndrome?
A. Most children achieve normal intellectual development
B. Excellent seizure control is expected with monotherapy
C. Refractory epilepsy and developmental impairment are common
D. Condition resolves by adolescence
C. Refractory epilepsy and developmental impairment are common.
58
What is another name for Landau-Kleffner Syndrome?
Acquired epileptic aphasia (AFA).
59
What is the hallmark clinical feature of LKS?
Acquired aphasia (loss of previously developed language skills) after normal early language development.
60
How is Landau-Kleffner Syndrome diagnosed?
• Based on EEG findings (especially during sleep) and clinical regression of language.
• MRI is done to exclude brain tumors.
61
A 5-year-old who previously had normal speech now presents with language regression and no clear understanding of spoken words. EEG shows epileptiform activity, especially during sleep. What is the most likely diagnosis?
A. Autism spectrum disorder
B. Childhood absence epilepsy
C. Landau-Kleffner Syndrome
D. Tuberous sclerosis
C. Landau-Kleffner Syndrome
62
Which of the following is most characteristic of Landau-Kleffner Syndrome?
A. Progressive motor decline
B. Acquired aphasia after normal language development
C. Early developmental delay from infancy
D. Visual hallucinations
B. Acquired aphasia after normal language development
63
Which seizure syndrome presents in infancy with painful-appearing spasms in clusters and is treated with ACTH?
Infantile Spasms (West Syndrome)
EEG: Hypsarrhythmia
Key: Infant + rapid clusters + flexion (self-hug)
64
Child aged 4–8 years presents with staring, blinking episodes with no post-ictal state and normal behavior afterward. EEG shows 3 Hz spike-wave. Diagnosis?
Childhood Absence Epilepsy
Tx: Ethosuximide
Key: Daily brief spells + hyperventilation provokes
65
7-year-old has seizures at night with facial twitching, drooling, and speech arrest. EEG shows centrotemporal spikes. What’s the diagnosis?
Benign Rolandic Epilepsy (BECTS)
Tx: Often none needed, self-limited
Key: Nocturnal + facial motor + salivation + good prognosis
66
Teen with morning jerks of upper limbs, generalized tonic-clonic seizures, EEG shows 4–6 Hz polyspike-wave. Diagnosis?
Juvenile Myoclonic Epilepsy (JME)
Tx: Valproic acid (lifelong)
Key: Morning jerks + adolescent + polyspike
67
Child develops language regression after normal development. EEG abnormal especially during sleep. What syndrome is this?
Landau-Kleffner Syndrome
AKA: Acquired Epileptic Aphasia
Tx: Steroids, anticonvulsants
Key: Language loss + EEG change + MRI to rule tumor
68
Multiple seizure types, developmental delay, slow 1.5–2.5 Hz spike-wave on EEG. Difficult to treat. Diagnosis?
Lennox-Gastaut Syndrome (LGS)
Tx: Multiple AEDs, ketogenic diet, ± surgery
Key: Drop attacks + intellectual disability + refractory
69
What is the treatment of choice for partial (focal) seizures?
Carbamazepine, Oxcarbazepine, Phenytoin
70
What is the treatment of choice for absence seizures?
Ethosuximide
71
What is the treatment of choice for generalized tonic-clonic seizures?
• Valproic acid (first-line)
• Phenytoin (alternative)
72
What is the treatment of choice for infantile spasms?
• ACTH (first-line)
• Vigabatrin (if due to tuberous sclerosis)
73
What are common side effects of Ethosuximide?
• GI upset
• Leukopenia
• Hepatotoxicity
74
What are common side effects of Carbamazepine?
• Rash → Stevens-Johnson syndrome
• SIADH
• Leukopenia, hepatotoxicity
• Teratogenicity
• Drug interactions (induces CYP enzymes)
75
A child on anticonvulsant therapy develops persistent peripheral vision loss. Which drug is the most likely culprit?
A. Ethosuximide
B. Vigabatrin
C. Phenobarbital
D. Carbamazepine
B. Vigabatrin
76
Which of the following AEDs is most associated with SIADH and can cause severe hyponatremia?
A. Ethosuximide
B. Carbamazepine
C. Valproic acid
D. Vigabatrin
B. Carbamazepine
77
A neonate with seizures is started on an AED and becomes very sedated with slowed cognition but shows good seizure control. Which drug was likely used?
A. Phenobarbital
B. Phenytoin
C. Ethosuximide
D. Lamotrigine
A. Phenobarbital
78
Which AED follows zero-order kinetics and can lead to gingival hypertrophy and hirsutism?
Phenytoin.
79
Which AED carries a high risk of hepatotoxicity and is especially contraindicated in children under 2 years?
Valproic acid.
80
What are breath-holding spells and their types?
• Episodes of involuntary breath holding in young children, typically 6–18 months old.
* Cyanotic type: Triggered by anger or frustration; breath held in expiration leading to cyanosis.
* Pallid type: Triggered by sudden fear or pain (e.g., after injury); pallor precedes a brief loss of consciousness and possible myoclonic jerks from transient cerebral ischemia.
• Spells last <1 minute, and by age 4 about half of children outgrow them.
81
How are breath-holding spells evaluated and managed?
• Lab tests: CBC and iron studies if iron-deficiency anemia is suspected.
• Management: Behavioral modification—parents learn not to reinforce the episodes with excessive attention or alarm.
82
What is Sandifer’s syndrome and how does it present?
• A dystonic posturing disorder associated with gastroesophageal reflux (GERD) in infants.
• Characterized by tonic neck extension (“arching”) and dystonic trunk posturing immediately after feeds.
• Neurological exam is normal.
83
How does syncope differ from epileptic seizures in children?
• Syncope: Transient loss of consciousness and postural tone due to global cerebral hypoperfusion; rapid recovery without postictal confusion.
• Most common type: Vasovagal syncope, often with prodromal pallor, sweating, or nausea.
• Red flags: Occurrence during exercise, recurrent episodes, or family history of sudden unexplained death.
84
A 14-month-old child cries in frustration, holds their breath in expiration, turns blue, and has brief limpness. No postictal confusion. What is the most likely diagnosis?
A. Complex febrile seizure
B. Breath-holding spell (cyanotic type)
C. Infantile spasm
D. Syncope
B. Breath-holding spell (cyanotic type)
85
A 2-month-old infant arches the neck and trunk with brief apnea soon after feeding. Neurological exam is normal. Which condition is most consistent?
A. West syndrome
B. Sandifer’s syndrome
C. Benign neonatal sleep myoclonus
D. Landau–Kleffner syndrome
B. Sandifer’s syndrome
86
An 8-year-old faints briefly during a game of tag, with pallor and rapid recovery, without tongue biting or postictal confusion. What is the most appropriate next step?
A. EEG
B. Start valproic acid
C. Cardiac evaluation for syncope
D. Brain MRI
C. Cardiac evaluation for syncope
87
A 10-year-old presents with bilateral pulsating headaches that last 30 minutes and worsen with activity, accompanied by vomiting. Which criterion is not met for migraine diagnosis?
A. Duration of headache
B. Associated vomiting
C. Aggravation by activity
D. Location (bilateral is not allowed)
D. Location (bilateral is not allowed)
## footnote
Bilateral location is acceptable in pediatric migraine.
88
Which of the following is the first-line acute treatment for a 14-year-old with a moderate migraine?
A. Sumatriptan/naproxen oral tablets
B. Ibuprofen
C. Propranolol
D. Topiramate
B. Ibuprofen
89
What are the diagnostic criteria for pediatric migraine?
• Headache attacks lasting 1–72 hours
• At least 2 of the 4 following characteristics:
1. Unilateral or bilateral (frontal/temporal) location
2. Pulsating quality
3. Moderate to severe intensity
4. Aggravated by or causing avoidance of routine physical activity
• Plus at least 1 of the following:
• Nausea and/or vomiting
• Photophobia and phonophobia
90
What is the first-line acute management for pediatric migraine?
• Non-pharmacologic: Rest in a dark, quiet room; encourage sleep; optimize hydration
• Pharmacologic: NSAIDs (ibuprofen or naproxen) or acetaminophen, given as early as possible in the attack
91
When should a triptan be considered in acute pediatric migraine, and which are FDA-approved?
• Second-line, if response to NSAIDs/acetaminophen is inadequate
92
What are the key components of migraine prophylaxis in children?
• Trial duration: 2–3 months to assess efficacy
• Supplements: Riboflavin (B₂), magnesium, melatonin, coenzyme Q10
• Medications: Topiramate, propranolol, or amitriptyline
• Adjunctive: Cognitive behavioral therapy
• Counseling: Risk of medication-overuse headache with frequent acute use
93
Which supplement has evidence for migraine prophylaxis in children?
A. Vitamin D
B. Omega-3 fatty acids
C. Riboflavin (B₂)
D. Folic acid
C. Riboflavin (B₂)
94
A child uses ibuprofen 20 days per month for migraine relief. What is the best next step?
A. Increase ibuprofen dose
B. Add a triptan
C. Initiate prophylactic therapy
D. Discontinue all migraine medications
C. Initiate prophylactic therapy
## footnote
To prevent medication-overuse headache, start prophylaxis rather than escalate acute therapy.
95
An 8-year-old awakens at 3 AM with a severe headache that improves by morning. Which feature is most concerning?
A. Bilateral temporal location
B. Worsening when lying down
C. Positive family history of migraine
D. Photophobia
B. Worsening when lying down
## footnote
Positional worsening suggests raised intracranial pressure.
96
A 4-year-old presents with headaches and new right-sided ptosis. What is the best next step?
A. Trial of NSAIDs at home
B. Brain MRI with contrast
C. Sleep hygiene counseling
D. Begin amitriptyline prophylaxis
B. Brain MRI with contrast
## footnote
Cranial nerve palsy is a red flag requiring imaging.
97
Why is a sudden severe (“thunderclap”) headache in a child particularly concerning?
Suggests possible subarachnoid hemorrhage, venous sinus thrombosis, or other life-threatening intracranial event.
98
What is the significance of a headache that worsens with position changes or on awakening?
May indicate increased intracranial pressure (e.g., mass lesion, hydrocephalus) or intracranial hypotension.
99
How do focal neurologic signs influence the headache workup?
Any new focal deficit (e.g., cranial nerve palsy, ataxia) mandates neuroimaging (MRI) to exclude structural lesions.
100
When should you suspect a secondary headache rather than primary migraine or tension headache?
Presence of red flags above, especially in a child younger than 5y, or when headaches have atypical features or a negative family history of migraine.
101
A 6-year-old has headaches that began after minor head trauma and are now worse on bending forward. Which finding is most worrisome?
A. No family migraine history
B. Occasional photophobia
C. Morning vomiting
D. Normal neurologic exam
C. Morning vomiting
## footnote
Morning vomiting indicates raised intracranial pressure.
102
In a child younger than 5 with new-onset headaches, which scenario requires immediate workup?
A. Headache 2×/week, relieved by acetaminophen
B. Headache preceded by aura
C. Headache with gait disturbance and ataxia
D. Headache only during sports activities
C. Headache with gait disturbance and ataxia
## footnote
Ataxia constitutes a focal neurologic deficit—urgent evaluation needed.
103
Which tissues/organs are affected in neurocutaneous syndromes?
• CNS: brain, spinal cord, peripheral nerves.
• Skin (epidermis).
• Eye.
• Tooth enamel.
• Mucosa lining mouth, nostrils, anus.
103
What is the embryologic origin of neurocutaneous syndromes?
Ectoderm.
104
What is the inheritance pattern of Neurofibromatosis type 1 (NF1)?
Autosomal dominant.
105
What is the diagnostic criteria for NF1? (≥2 of 7 required)
1. ≥6 café-au-lait macules >5mm (prepubertal) or >15mm (postpubertal).
2. ≥2 neurofibromas (any type) OR 1 plexiform neurofibroma.
3. Axillary or inguinal freckling.
4. Optic glioma.
5. ≥2 Lisch nodules (iris hamartomas).
6. Distinctive osseous lesion (e.g., sphenoid dysplasia, thinning of long bone cortex ± pseudarthrosis).
7. First-degree relative with NF1.
106
What are Lisch nodules?
Iris hamartomas (benign pigmented nodules on the iris).
107
Common clinical features of NF1?
• Learning disabilities
• Macrocephaly
• Lisch nodules
• Optic glioma
• Short stature
• Neurofibromas
• Scoliosis
• Pectus excavatum
• Axillary and inguinal freckling
• Limb deformities (bowed legs, flat feet)
• Café-au-lait spots
108
What CNS tumors are NF1 patients at increased risk for?
Pilocytic astrocytoma.
109
NF1 patients have an increased risk of which hematologic malignancy?
Leukemia.
110
What are common neurological symptoms in NF1?
Migraines, visual impairment, seizures.
111
Key management principles for NF1?
• Genetic counseling
• Early detection of malignancies
• Prevention of future complications
112
Which of the following is not part of the diagnostic criteria for Neurofibromatosis type 1?
A) ≥6 café-au-lait spots
B) Bilateral vestibular schwannomas
C) Optic glioma
D) Axillary freckling
B) Bilateral vestibular schwannomas (→ this is NF2)
113
What is the inheritance pattern of Tuberous Sclerosis?
Autosomal dominant.
114
What is the most common initial presentation of Tuberous Sclerosis?
Seizures.
115
Name the key skin manifestations of Tuberous Sclerosis.
• Ash leaf spots (hypopigmented macules)
• Facial angiofibromas (adenoma sebaceum)
• Shagreen patch (leathery plaque, usually lumbosacral)
• Periungual fibromas (around fingernails/toenails)
116
Which cardiac tumor is associated with Tuberous Sclerosis?
Cardiac rhabdomyoma.
117
What are common neuropsychiatric features in Tuberous Sclerosis?
• Learning disability
• Intellectual disability
• Autism
• ADHD
• Infantile spasms
118
Key components of management in Tuberous Sclerosis?
• Seizure control
• Echocardiogram (for cardiac rhabdomyoma)
• Blood pressure monitoring (for renal lesions)
• Renal ultrasound
• Neuroimaging
119
Which skin finding is characteristic of Tuberous Sclerosis?
A) Café-au-lait spots
B) Shagreen patch
C) Axillary freckling
D) Lisch nodules
B) Shagreen patch
120
Which brain lesion is typically found in Tuberous Sclerosis?
A) Cortical tubers
B) Vestibular schwannomas
C) Optic glioma
D) Subependymal hemorrhage
A) Cortical tubers
121
A neonate is found to have a cardiac rhabdomyoma on prenatal ultrasound. What condition should be suspected?
A) Neurofibromatosis type 1
B) Tuberous Sclerosis
C) Sturge-Weber syndrome
D) Von Hippel-Lindau disease
B) Tuberous Sclerosis
122
What is the inheritance pattern of Sturge-Weber syndrome?
Sporadic (spontaneous mutation; not inherited).
123
What is the classic skin manifestation of Sturge-Weber syndrome?
Facial port-wine stain (nevus flammeus) in the V1, V2, or V3 distribution of the trigeminal nerve.
124
What neurological symptom is commonly associated with Sturge-Weber syndrome?
Seizures (often focal).
125
What ocular complication is commonly seen in Sturge-Weber syndrome?
Glaucoma.
126
Other neurological features of Sturge-Weber syndrome?
• Intellectual disability
• Developmental delay
• ADHD
• Contralateral hemiparesis
127
Key components of management in Sturge-Weber syndrome?
• Seizure control (may require hemispherectomy)
• Laser treatment of port-wine stain
• Annual eye exams for glaucoma screening
128
A 9-month-old girl presents with facial port-wine stain in the V1 distribution, seizures, and glaucoma. What is the most likely diagnosis?
A) Neurofibromatosis type 1
B) Sturge-Weber syndrome
C) Tuberous sclerosis
D) Von Hippel-Lindau disease
B) Sturge-Weber syndrome
129
Which nerve’s distribution is typically involved in the port-wine stain of Sturge-Weber syndrome?
A) Facial nerve
B) Trigeminal nerve
C) Vagus nerve
D) Glossopharyngeal nerve
B) Trigeminal nerve
130
Which of the following is not a typical feature of Sturge-Weber syndrome?
A) Glaucoma
B) Optic glioma
C) Seizures
D) Intellectual disability
B) Optic glioma
131
In Sturge-Weber syndrome, which treatment is recommended for the skin lesion?
A) Excision
B) Radiation therapy
C) Laser dye treatment
D) Chemotherapy
C) Laser dye treatment
132
What is agenesis of the corpus callosum?
Complete or partial absence of the corpus callosum.
133
Can agenesis of the corpus callosum be asymptomatic?
Yes, it can be isolated and incidental in some patients.
134
What are possible complications if agenesis is associated with other malformations?
Severe seizures and intellectual disability.
135
Why is eye examination important in agenesis of corpus callosum?
To detect associated ocular abnormalities (e.g., chorioretinal lacunae in Aicardi syndrome).
136
What is Aicardi syndrome?
X-linked dominant disorder (affects only girls) characterized by:
1. Agenesis of the corpus callosum
2. Chorioretinal lacunae
3. Infantile spasms
137
What is the “racing car sign”?
CT imaging sign seen in agenesis of the corpus callosum.
138
Are seizures in Aicardi syndrome easy to control?
No, they are resistant to antiepileptic drugs.
139
A female infant is diagnosed with agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. What is the most likely diagnosis?
A) Sturge-Weber syndrome
B) Aicardi syndrome
C) Tuberous sclerosis
D) Rett syndrome
B) Aicardi syndrome
140
What is hydrocephalus?
Accumulation of cerebrospinal fluid (CSF) leading to increased volume in cerebral ventricles and elevated intracranial pressure (ICP).
141
What causes hydrocephalus?
Disturbance in CSF formation, flow, or absorption.
142
Describe the normal flow pathway of CSF.
1. Lateral ventricles →
2. Foramen of Monro →
3. 3rd ventricle →
4. Aqueduct of Sylvius →
5. 4th ventricle →
6. Foramina of Luschka and Magendie →
7. Cisterna magna →
8. Subarachnoid space →
9. Arachnoid granulations →
10. Venous sinus blood
143
What is the role of arachnoid granulations?
Absorption of CSF into the venous circulation.
144
In hydrocephalus, CSF accumulates due to disturbance in:
A) Production only
B) Flow only
C) Absorption only
D) Any of the above
D) Any of the above
145
CSF passes from the 3rd ventricle to the 4th ventricle via:
A) Foramen of Monro
B) Aqueduct of Sylvius
C) Foramen of Magendie
D) Foramen of Luschka
B) Aqueduct of Sylvius
146
Which structure allows CSF to enter the subarachnoid space from the 4th ventricle?
A) Foramen of Monro
B) Aqueduct of Sylvius
C) Foramina of Luschka and Magendie
D) Cisterna magna
C) Foramina of Luschka and Magendie
146
Absorption of CSF into venous blood occurs at:
A) Foramen of Monro
B) Arachnoid granulations
C) Aqueduct of Sylvius
D) Cisterna magna
B) Arachnoid granulations
147
Where is the problem located in communicating vs non-communicating hydrocephalus?
• Communicating: at arachnoid villi (failure of CSF absorption).
• Non-communicating: inside ventricular system (obstruction in CSF pathway).
148
Common causes of communicating hydrocephalus?
• Post-intraventricular hemorrhage (IVH)
• Intracranial hemorrhage (ICH)
• Meningitis (adhesions blocking absorption)
• Choroid plexus papilloma (overproduction of CSF)
149
Common causes of non-communicating hydrocephalus?
• Congenital anomalies (e.g. aqueductal stenosis)
• Tumors
• Cysts
• Inflammation causing obstruction
150
Is a lumbar puncture contraindicated in hydrocephalus ?
• Communicating: generally safe.
• Non-communicating: contraindicated (risk of herniation).
151
Which type of hydrocephalus can be caused by aqueductal stenosis?
Non-communicating hydrocephalus.
152
Which type of hydrocephalus can be caused by post-meningitis scarring?
Communicating hydrocephalus.
153
A child develops hydrocephalus after bacterial meningitis. What type of hydrocephalus is this?
A) Communicating
B) Non-communicating
A) Communicating
154
Choroid plexus papilloma leads to hydrocephalus mainly by:
A) Overproduction of CSF
B) Obstruction of CSF flow
C) Impaired absorption at arachnoid villi
A) Overproduction of CSF
155
A 6-year-old child with headache, vomiting, diplopia, and bradycardia is likely showing:
A) Cerebellar ataxia
B) Cushing’s triad
C) Papilledema
D) Sixth nerve palsy only
B) Cushing’s triad
156
The definitive treatment of hydrocephalus is:
A) Mannitol
B) Acetazolamide
C) Serial lumbar puncture
D) Ventriculoperitoneal shunt
D) Ventriculoperitoneal shunt
157
A newborn presents with hydrocephalus. Imaging shows dilation of the lateral and third ventricles, but a normal fourth ventricle. Where is the obstruction most likely?
A) Foramen of Monro
B) Aqueduct of Sylvius
C) Foramen of Magendie
D) Arachnoid villi
B) Aqueduct of Sylvius
158
What is the medical treatment for hydrocephalus?
Acetazolamide (temporary reduction of CSF production).
159
Which type of spina bifida has no visible external sac?
Spina Bifida Occulta
## footnote
mildest form, hidden under skin
160
Which type of spina bifida involves protrusion of meninges only without neural tissue?
Meningocele.
161
Which type of spina bifida involves protrusion of meninges and spinal cord?
Myelomeningocele.
162
Which type is most likely to cause neurological deficits?
Myelomeningocele.
## footnote
motor/sensory loss, bladder/bowel dysfunction
163
Which type is usually asymptomatic and discovered incidentally?
Spina Bifida Occulta.
164
Which type has highest risk of hydrocephalus?
Myelomeningocele
## footnote
80-85% develop hydrocephalus
165
What is the treatment for myelomeningocele?
Immediate neurosurgical consultation, closure of defect, monitor/treat hydrocephalus (VP shunt), orthopedic care.
166
A newborn presents with a cystic mass at the lower back containing cerebrospinal fluid and neural tissue. What is the diagnosis?
A) Spina Bifida Occulta
B) Meningocele
C) Myelomeningocele
D) Dermoid cyst
C) Myelomeningocele
167
Which of the following is least likely to have neurological deficits?
A) Spina Bifida Occulta
B) Meningocele
C) Myelomeningocele
D) Tethered cord
A) Spina Bifida Occulta
168
What is the definition of transverse myelitis?
Inflammation of the spinal cord involving ≥ 3 vertebral segments, causing motor and sensory abnormalities.
169
What is the most common spinal cord region involved?
Thoracic spinal cord.
170
What are the main causes of transverse myelitis?
Post-infectious, post-vaccination, viral infections, spinal cord trauma.
171
What are the classic clinical features of transverse myelitis?
• Back pain at level of lesion
• Weakness → flaccid paralysis (initially)
• Sensory level → paresthesias in legs
• Bowel and bladder dysfunction
172
What is the main treatment for transverse myelitis?
Corticosteroids + supportive therapy.
173
A patient presents with acute back pain, flaccid paralysis of both legs, a sensory level at T8, and urinary retention. MRI shows a hyperintense lesion spanning 4 vertebral segments. What is the most likely diagnosis?
A) Guillain-Barré syndrome
B) Transverse myelitis
C) Spinal cord infarction
D) Multiple sclerosis
B) Transverse myelitis
174
Which of the following is not a typical cause of transverse myelitis?
A) Post-viral inflammation
B) Post-vaccination reaction
C) Bacterial meningitis
D) Spinal cord trauma
C) Bacterial meningitis
175
A patient with transverse myelitis is most at risk for which complication?
A) Permanent quadriplegia
B) Respiratory failure requiring ventilation
C) Chronic bowel and bladder dysfunction
D) Brain herniation
C) Chronic bowel and bladder dysfunction
176
What is the most likely diagnosis for a child with ptosis, diplopia, worsening weakness in the evening, and normal neurological exam?
Juvenile Myasthenia Gravis (autoimmune).
177
What is the pathophysiology of MG?
Autoantibodies against acetylcholine receptors (AChR) at the neuromuscular junction → impaired neuromuscular transmission → muscle fatigability.
178
How does neonatal MG differ from congenital MG?
• Neonatal MG: Maternal anti-AChR antibodies → transient, resolves in 3–5 weeks.
• Congenital MG: Genetic → no maternal antibodies, persistent.
179
What are hallmark clinical features of juvenile MG?
• Fluctuating weakness (worse in evening).
• Ptosis, diplopia (ophthalmoplegia).
• Normal reflexes and sensation.
• Bulbar symptoms (dysphagia, nasal speech).
180
What is the first-line diagnostic test?
Tensalon( Edrophonium) test, EMG with decremental response.
181
What is the mainstay treatment for MG?
• Cholinesterase inhibitors (pyridostigmine).
• Immunosuppressants (prednisone).
• Severe cases: IVIG, plasmapheresis, thymectomy.
182
A 12-year-old girl presents with fluctuating ptosis and diplopia, worsening by evening. Reflexes and sensation are normal. Which finding best confirms the diagnosis?
A) Increased CK levels
B) Anti-acetylcholine receptor antibodies
C) Positive Gower’s sign
D) Muscle biopsy showing necrosis
B) Anti-acetylcholine receptor antibodies
183
A child with myasthenia gravis shows rapid improvement in ptosis after administration of edrophonium. What is the mechanism of this test?
A) Increased acetylcholine degradation
B) Blocking presynaptic calcium channels
C) Inhibition of acetylcholinesterase
D) Enhancing antibody production
C) Inhibition of acetylcholinesterase
184
Which of the following is most characteristic of juvenile myasthenia gravis?
A) Muscle pain after exercise
B) Reflex loss with proximal weakness
C) Weakness worsening with activity, improving with rest
D) Sensory loss in distal limbs
C) Weakness worsening with activity, improving with rest
185
A child with MG develops respiratory distress and difficulty swallowing. What is the next best step?
A) Increase pyridostigmine dose
B) Administer IVIG and consider plasmapheresis
C) Immediate thymectomy
D) Begin high-dose antibiotics
B) Administer IVIG and consider plasmapheresis
186
What is infant botulism and what causes it?
A neuromuscular disorder caused by ingestion of Clostridium botulinum spores → production of botulinum toxin → inhibits acetylcholine release at neuromuscular junction.
187
What are the two most common sources of Clostridium botulinum spores in infants?
1. Honey
2. Soil
188
What is the classic clinical presentation of infant botulism?
• Constipation (first symptom)
• Poor feeding / poor suck and swallow
• Weak cry (feeble cry)
• Progressive hypotonia (“floppy baby”)
• Sluggish pupillary response
• Possible respiratory failure if untreated.
189
How does botulinum toxin affect neuromuscular transmission?
Blocks presynaptic release of acetylcholine → flaccid paralysis.
190
What is the diagnostic gold standard for infant botulism?
Isolation of botulinum toxin from stool.
191
What is the mainstay treatment in botulism ?
• Botulism Immune Globulin (BIG-IV)
• Supportive care → may need mechanical ventilation.
192
A 3-month-old infant presents with constipation, poor feeding, and a weak cry. The mother mentions giving the infant honey 2 weeks ago. What is the most likely diagnosis?
A) Myasthenia gravis
B) Infant botulism
C) Guillain-Barré syndrome
D) Spinal muscular atrophy
B) Infant botulism
193
A newborn diagnosed with infant botulism develops respiratory failure. What is the appropriate treatment?
A) IV corticosteroids
B) Intravenous immunoglobulin (IVIG)
C) Botulism immune globulin (BIG-IV) and supportive care
D) Plasmapheresis
C) Botulism immune globulin (BIG-IV) and supportive care
194
Which of the following is the earliest symptom in infant botulism?
A) Ptosis
B) Constipation
C) Respiratory distress
D) Dysphagia
B) Constipation
195
What is the inheritance pattern of Duchenne Muscular Dystrophy?
X-linked recessive → affects males; mutation in dystrophin gene.
196
What is the pathophysiology of DMD?
Absence of dystrophin → muscle fiber degeneration → progressive muscle weakness.
197
What are the early clinical features?
• Waddling gait
• Frequent falls
• Difficulty climbing stairs
• Gower’s sign (using hands to push up from floor)
• Proximal muscle weakness
198
What physical finding is characteristic in the calves?
Calf pseudohypertrophy (fat and fibrous tissue replaces muscle).
199
What is the typical disease progression?
• Wheelchair-bound by 12 years
• Death by ~20 years (usually from respiratory failure or cardiomyopathy).
200
What cardiac complication is associated with DMD?
Dilated cardiomyopathy
201
What lab findings support the diagnosis?
↑ Serum creatine kinase (CK) → indicates muscle breakdown.
202
How is the diagnosis confirmed?
• Genetic testing (dystrophin gene mutation)
• Muscle biopsy (absence of dystrophin)
203
A 4-year-old boy presents with frequent falls, difficulty climbing stairs, and uses his hands to push himself up from the floor. His calves appear enlarged. What is the most likely diagnosis?
A) Spinal muscular atrophy
B) Duchenne muscular dystrophy
C) Becker muscular dystrophy
D) Cerebral palsy
B) Duchenne muscular dystrophy
204
Which of the following is the most specific physical sign of Duchenne muscular dystrophy?
A) Positive Babinski sign
B) Gower’s sign
C) Clonus
D) Spasticity
B) Gower’s sign
205
What is the primary cause of death in patients with Duchenne muscular dystrophy?
A) Renal failure
B) Respiratory failure and cardiomyopathy
C) Liver failure
D) Gastrointestinal bleeding
B) Respiratory failure and cardiomyopathy
206
A muscle biopsy of a child suspected to have Duchenne muscular dystrophy would most likely show:
A) Absence of dystrophin
B) Excessive glycogen storage
C) Neurogenic atrophy
D) Inflammation and necrosis of motor neurons
A) Absence of dystrophin
207
Why is ECHO/EKG important in DMD?
To monitor for dilated cardiomyopathy and other cardiac complications.
208
What is the mainstay of treatment for DMD?
Supportive care → physiotherapy, respiratory care, and glucocorticoids
## footnote
(to slow progression and delay wheelchair use).
209
Is there a curative treatment for Duchenne Muscular Dystrophy?
No curative treatment; management is supportive and symptom-targeted.
210
A 6-year-old boy with Duchenne muscular dystrophy is being evaluated. Which investigation is most useful to assess cardiac complications?
A) Skeletal muscle MRI
B) Echocardiogram
C) Pulmonary function test
D) Brain MRI
B) Echocardiogram
211
In Duchenne muscular dystrophy, serum creatine kinase (CPK) is:
A) Normal throughout life
B) Low at birth, rises after adolescence
C) Elevated before clinical symptoms appear
D) Only elevated after muscle atrophy develops
C) Elevated before clinical symptoms appear
212
The goal of corticosteroid therapy in Duchenne muscular dystrophy is to:
A) Cure the disease
B) Increase dystrophin production
C) Slow disease progression and delay loss of ambulation
D) Prevent cardiomyopathy
C) Slow disease progression and delay loss of ambulation
213
What is the classic clinical presentation of Guillain-Barré Syndrome?
Ascending symmetrical weakness starting in the legs + diminished or absent reflexes + paresthesias.
214
What is albuminocytologic dissociation?
↑ CSF protein with normal WBC count → classic CSF finding in GBS.
215
What autonomic symptoms can occur in GBS?
Arrhythmia, orthostatic hypotension, hypertension, bladder dysfunction.
216
What is the most common preceding infection associated with GBS?
Campylobacter jejuni (also can follow Mycoplasma pneumoniae, viral infections).
217
What are the two main treatments for GBS?
IVIG or plasmapheresis → both equally effective if started early.
218
When should a patient with GBS be admitted to PICU?
If there is bulbar palsy, respiratory compromise (↓ vital capacity), or autonomic instability.
219
What is the prognosis of GBS?
Generally excellent → most recover within 6–12 months; some may have mild residual deficits.
220
A child presents with ascending paralysis, absent reflexes, and autonomic instability following a diarrheal illness. CSF shows elevated protein with normal WBC count. What is the most likely diagnosis?
A) Botulism
B) Guillain-Barré syndrome
C) Myasthenia gravis
D) Multiple sclerosis
B) Guillain-Barré syndrome
221
Which of the following is NOT an indication for ICU admission in Guillain-Barré syndrome?
A) Declining vital capacity
B) New onset bulbar weakness
C) Stable respiratory status with mild limb weakness
D) Autonomic instability
C) Stable respiratory status with mild limb weakness
222
A patient with Guillain-Barré syndrome is started on IVIG. Which of the following is the primary goal of this therapy?
A) Reduce CSF protein
B) Neutralize circulating antibodies causing demyelination
C) Increase acetylcholine release at neuromuscular junction
D) Prevent permanent motor neuron death
B) Neutralize circulating antibodies causing demyelination
223
What is the inheritance pattern of SMA?
Autosomal recessive → mutation affects anterior horn cells (lower motor neurons).
224
What are the 3 maim types of SMA?
1. Type 1 (Werdnig-Hoffmann): most severe, onset <6 months.
2. Type 2: intermediate severity, onset 6–18 months.
3. Type 3 (Kugelberg-Welander): mildest, onset >18 months (can walk but progressive weakness).
225
What is the hallmark clinical presentation of SMA Type 1?
Severe hypotonia (“floppy baby”), frog-leg posture, feeding difficulty, tongue fasciculations, progressive muscle atrophy.
226
What functions are typically spared in SMA?
No sensory loss, no sphincter dysfunction, no cognitive impairment.
227
What diagnostic test confirms SMA?
Genetic testing for SMN1 gene mutation (deletion/mutation).
228
What is the mainstay of management in SMA?
Supportive care → respiratory (ventilation), nutritional (feeding support), orthopedic interventions (contracture prevention).
229
A 3-month-old infant presents with profound hypotonia, frog-leg posture, feeding difficulty, and tongue fasciculations. Which of the following is the most likely diagnosis?
A) Cerebral palsy
B) Spinal muscular atrophy type 1
C) Guillain-Barré syndrome
D) Myasthenia gravis
B) Spinal muscular atrophy type 1
230
Which of the following findings is NOT characteristic of spinal muscular atrophy?
A) Hypotonia
B) Absent deep tendon reflexes
C) Cognitive delay
D) Tongue fasciculations
C) Cognitive delay
231
Which gene is commonly mutated or deleted in spinal muscular atrophy?
A) DMD
B) SMN1
C) FMR1
D) HEXA
B) SMN1
232
Which of the following clinical features helps differentiate SMA from infant botulism?
A) Feeding difficulty
B) Hypotonia
C) Sensory loss
D) Tongue fasciculations
D) Tongue fasciculations
233
What is the difference between an upper motor neuron (UMN) vs lower motor neuron (LMN) facial nerve lesion?
• UMN lesion: contralateral paralysis of lower face only (forehead spared).
• LMN lesion (Bell’s palsy): ipsilateral paralysis of both upper & lower face.
234
Which of the following findings suggests an upper motor neuron facial nerve lesion rather than a lower motor neuron lesion?
A) Paralysis of entire ipsilateral face
B) Sparing of the forehead
C) Absent corneal reflex
D) Loss of taste on anterior two-thirds of tongue
B) Sparing of the forehead
235
What is the recommended initial treatment for most cases of congenital Bell’s palsy?
A) High-dose corticosteroids
B) Surgical decompression
C) Antiviral therapy
D) Conservative management
D) Conservative management
236
What is cerebral palsy?
Non-progressive motor disorder caused by a static brain injury in the developing fetal or infant brain.
237
What are “red flags” for cerebral palsy?
• No head control by 4-6 months
• Scissoring of the legs when held vertical
• Hand preference before 1 year (→ possible hemiplegia)
• Not sitting by 9 months
• Not pulling to stand by 12 months
• Persistent tiptoe walking
238
What are the main types of cerebral palsy?
1. Spastic (70%): hemiplegia, diplegia, quadriplegia
2. Dyskinetic (choreoathetoid, dystonic)
3. Ataxic / hypotonic
4. Mixed
239
What is the most common type of cerebral palsy?
Spastic cerebral palsy (70%)
240
What is the hallmark sign of spastic cerebral palsy?
Hypertonia, hyperreflexia, scissoring of legs
241
Which type of cerebral palsy is associated with kernicterus?
Dyskinetic (choreoathetoid) cerebral palsy
242
A child demonstrates early hand preference (before 1 year). Which type of CP is most likely?
Spastic hemiplegia
243
A 10-month-old infant has increased tone in the lower limbs, scissoring of the legs when held upright, and delayed motor milestones. Which is the most likely diagnosis?
A) Hypotonic cerebral palsy
B) Spastic diplegia
C) Dyskinetic cerebral palsy
D) Spastic quadriplegia
B) Spastic diplegia
244
A child who had kernicterus as a neonate now shows involuntary writhing movements of the limbs and face. Which type of CP is this?
A) Spastic quadriplegia
B) Dyskinetic cerebral palsy
C) Ataxic cerebral palsy
D) Spastic hemiplegia
B) Dyskinetic cerebral palsy
245
What is the key differentiating feature between spastic and dyskinetic cerebral palsy?
A) Presence of seizures
B) Presence of involuntary movements
C) Presence of intellectual disability
D) Presence of feeding difficulties
B) Presence of involuntary movements
246
A 7-year-old boy presents with repetitive eye blinking that worsens with stress and improves when he performs the action. Which of the following is the most likely diagnosis?
A) Absence seizures
B) Tics
C) Myoclonus
D) Stereotypies
B) Tics
247
Which of the following statements about tics is TRUE?
A) They typically occur during sleep
B) They are rhythmic movements
C) They are preceded by an urge relieved by performing the tic
D) They are more common in females
C) They are preceded by an urge relieved by performing the tic
248
Which of the following is considered first-line pharmacologic treatment for moderate tics causing functional impairment?
A) Risperidone
B) Haloperidol
C) Clonidine
D) Fluoxetine
C) Clonidine
249
Tics are most likely to present at which of the following ages?
A) 2-3 years
B) 4-5 years
C) 6-7 years
D) 10-12 years
C) 6-7 years
250
What are common triggers or exacerbating factors for tics?
• Stress
• Environmental stimuli
• Poor sleep
250
What are the two types of tics based on the muscles involved?
• Motor tics (skeletal muscles)
• Vocal tics (diaphragm, laryngeal-pharyngeal muscles)
251
A 10-year-old boy presents with motor and vocal tics that have persisted for 14 months without a tic-free interval longer than 3 months. Which of the following is the most likely diagnosis?
A) Transient tic disorder
B) Chronic motor tic disorder
C) Tourette syndrome
D) Stereotypic movement disorder
C) Tourette syndrome
251
What is the male-to-female ratio in Tourette syndrome?
3:1
## footnote
more common in males
251
What are the main treatment options for Tourette syndrome?
• Behavioral therapy
• Pharmacologic: alpha-adrenergic agonists (clonidine, guanfacine) for mild tics
• Deep brain stimulation (for severe/refractory cases)
251
What behavioral comorbidities are associated with Tourette syndrome?
ADHD, anxiety, depression
251
Which of the following is required for the diagnosis of Tourette syndrome?
A) Motor tics only, duration > 6 months
B) Vocal tics only, duration > 12 months
C) Both motor and vocal tics, duration > 12 months
D) Both motor and vocal tics, duration > 6 months
C) Both motor and vocal tics, duration > 12 months
251
What is the age of onset for Tourette syndrome?
Before 21 years of age
251
A 2-year-old girl who had normal development begins to lose hand skills and spoken language. She shows repetitive hand-wringing movements, irritability, and ataxia. What is the most likely diagnosis?
A) Autism spectrum disorder
B) Rett syndrome
C) Angelman syndrome
D) Fragile X syndrome
B) Rett syndrome
252
What is the inheritance pattern of Rett syndrome?
X-linked dominant
## footnote
mutation in MECP2 gene.
252
Which of the following is NOT a typical feature of Rett syndrome?
A) Severe intellectual disability
B) Progressive neurologic regression
C) Increased risk of scoliosis
D) Normal EEG findings
D) Normal EEG findings
253
What are the key clinical features of Rett syndrome?
• Loss of acquired hand skills (e.g. hand-wringing)
• Loss of spoken language
• Severe intellectual disability
• Movement abnormalities: ataxia, dystonia, hypotonia, rigidity
• Seizures
• Scoliosis
• Sleep disturbances
• Bruxism
254
What diagnostic tests can support the diagnosis of Rett syndrome?
• Genetic testing (MECP2 mutation)
• Abnormal EEG
• MRI: normal early → later generalized cerebral atrophy
255
Is there a curative treatment for Rett syndrome?
No; treatment is symptomatic
## footnote
e.g. anticonvulsants for seizures.
Pediatrics
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