Neurology Flashcards
(329 cards)
1
Q
What is a seizure?
A
A seizure is a sudden, uncontrolled electrical disturbance in the brain causing changes in behavior, movements, feelings, or consciousness.
2
Q
What is epilepsy?
A
Epilepsy is a neurological disorder characterized by recurrent, unprovoked seizures.
3
Q
What are the major types of seizures according to the ILAE classification?
A
Types:
- Focal seizures
- Generalized seizures
- Unknown onset seizures.
4
Q
What are focal seizures?
A
Focal seizures originate within one hemisphere of the brain and can involve motor, sensory, autonomic, or psychic symptoms.
5
Q
What are generalized seizures?
A
Generalized seizures involve both hemispheres simultaneously from onset and include tonic-clonic, absence, myoclonic, atonic, and tonic seizures.
6
Q
What are common causes of seizures in neonates?
A
Neonatal causes: hypoxic-ischemic encephalopathy, intracranial hemorrhage, metabolic disturbances (hypoglycemia, hypocalcemia), infections, congenital brain malformations.
7
Q
What are common causes of seizures in infants and children?
A
Infant/child causes: febrile seizures, CNS infections, epilepsy syndromes, trauma, metabolic disorders, brain tumors.
8
Q
What is an absence seizure?
A
Absence seizures are generalized seizures characterized by brief lapses in consciousness without loss of postural tone.
9
Q
How does a typical absence seizure present?
A
Typical absence: sudden staring, unresponsiveness for a few seconds, with immediate recovery; often mistaken for daydreaming.
10
Q
What is a tonic-clonic seizure?
A
Tonic-clonic seizures are generalized seizures with initial stiffening (tonic phase) followed by rhythmic jerking (clonic phase).
11
Q
What is the difference between focal aware and focal impaired awareness seizures?
A
Focal aware seizures: awareness is preserved; focal impaired awareness: altered consciousness during the seizure.
12
Q
What are the common triggers of seizures in children with epilepsy?
A
Triggers: fever, sleep deprivation, flashing lights, stress, infection, missed AED doses.
13
Q
What are the first-line investigations for a child presenting with a first unprovoked seizure?
A
Investigations: blood glucose, electrolytes, calcium, magnesium, infection screening; EEG and neuroimaging if indicated.
14
Q
When is neuroimaging indicated in children with seizures?
A
Neuroimaging (MRI preferred) is indicated for focal seizures, abnormal neuro exam, developmental delay, or refractory epilepsy.
15
Q
What is an electroencephalogram (EEG) and its role in seizure evaluation?
A
EEG measures brain electrical activity; useful to classify seizure types and identify epileptiform abnormalities.
16
Q
What are the principles of acute management of seizures in children?
A
Acute management: ensure airway protection, oxygen, IV access, stop seizure if prolonged (>5 min) with benzodiazepines (e.g., lorazepam, midazolam).
17
Q
When should antiepileptic drug (AED) therapy be started after a seizure?
A
Start AED after two or more unprovoked seizures, or one seizure with high-risk features (e.g., abnormal MRI/EEG, family history).
18
Q
What are common first-line AEDs used in pediatric epilepsy?
A
First-line AEDs: levetiracetam, valproic acid, carbamazepine, ethosuximide (for absence seizures).
19
Q
What are the side effects of valproic acid?
A
Valproic acid side effects: hepatotoxicity, weight gain, tremor, thrombocytopenia, teratogenicity (neural tube defects).
20
Q
What is the prognosis for childhood-onset epilepsy?
A
Prognosis is favorable: ~60–70% of children achieve long-term seizure remission; early treatment and good seizure control improve outcomes.
21
Q
What is status epilepticus (SE)?
A
Status epilepticus is a medical emergency defined as continuous seizure activity ≥5 minutes or ≥2 discrete seizures without recovery of consciousness between them.
22
Q
What are the time-based definitions of SE according to ILAE?
A
T1: 5 minutes – treatment should begin; T2: 30 minutes – risk of long-term consequences such as neuronal injury and death.
23
Q
What is the difference between convulsive and non-convulsive SE?
A
Convulsive SE: tonic-clonic activity with altered consciousness; Non-convulsive SE: altered mental status without overt convulsions (e.g., absence or focal seizures).
24
Q
What are common causes of SE in children?
A
Causes: fever/febrile seizures, epilepsy, CNS infections, trauma, metabolic disturbances, drug withdrawal, hypoxia, tumors.
25
What is refractory status epilepticus (RSE)?
Refractory SE is seizure activity that persists despite adequate doses of two appropriately chosen and administered antiepileptic drugs.
26
What are the clinical features of convulsive SE?
Sustained convulsions, impaired consciousness, eye deviation, tongue biting, incontinence, autonomic instability.
27
What are the risks of prolonged seizures in SE?
Prolonged seizures can cause neuronal injury, respiratory depression, hypotension, acidosis, and systemic complications.
28
What are the priorities in the initial management of SE?
Initial priorities: airway protection, oxygenation, IV access, glucose correction, seizure termination with benzodiazepines.
29
What is the first-line drug treatment for SE?
First-line treatment: benzodiazepines – lorazepam (IV), diazepam (IV or rectal), or midazolam (IM, buccal, or intranasal).
30
What is the recommended dose of IV lorazepam in SE?
Lorazepam: 0.1 mg/kg IV (max 4 mg/dose), repeat once after 5–10 minutes if seizures persist.
31
What alternative routes are available if IV access is not established?
If no IV access: use intramuscular midazolam, rectal diazepam, or buccal/intranasal midazolam.
32
What is the second-line treatment for SE?
Second-line therapy involves antiepileptic loading dose after benzodiazepines if seizure persists.
33
What drugs are commonly used as second-line agents in SE?
Common drugs: phenytoin/fosphenytoin, levetiracetam, valproic acid, phenobarbital.
34
What defines refractory SE?
Seizures that persist despite benzodiazepine and a second-line AED are defined as refractory SE.
35
How is RSE managed?
RSE management includes continuous infusions: midazolam, pentobarbital, or propofol under intensive monitoring.
36
What is super-refractory SE?
Super-refractory SE is seizure activity continuing ≥24 hours after anesthetic therapy or recurring on weaning.
37
What investigations should be done in a child with SE?
Workup: glucose, electrolytes, calcium, magnesium, CBC, liver/renal function, tox screen, LP (if infection), EEG, neuroimaging.
38
What supportive care is required during SE management?
Support: airway management, fluids, temperature control, correction of metabolic derangements, ICU care if refractory.
39
What are potential complications of SE?
Complications: aspiration, respiratory failure, hypotension, rhabdomyolysis, cerebral edema, long-term neurologic deficits.
40
What is the prognosis after an episode of SE in children?
Prognosis depends on etiology, duration, and treatment; earlier intervention improves outcomes. Some may develop epilepsy or cognitive impairment.
41
What are febrile seizures?
Febrile seizures are seizures occurring in children aged 6 months to 5 years associated with fever but without evidence of CNS infection or acute metabolic disturbance.
42
At what age do febrile seizures typically occur?
They most commonly occur between 6 months and 5 years of age, peaking at 18 months.
43
What are the types of febrile seizures?
Types: Simple and Complex febrile seizures.
44
What is a simple febrile seizure?
Simple febrile seizure: generalized tonic-clonic, lasting <15 minutes, occurs once in 24 hours, and without postictal neurological deficits.
45
What is a complex febrile seizure?
Complex febrile seizure: focal features, duration >15 minutes, or occurs more than once in 24 hours, or has postictal neurological abnormality.
46
What are risk factors for febrile seizures?
Risk factors: family history of febrile seizures or epilepsy, high fever, viral infections, delayed immunizations, low serum sodium.
47
What are the common triggers of febrile seizures?
Viral infections (especially HHV-6), otitis media, pharyngitis, and recent vaccinations (e.g., MMR).
48
What is the pathophysiology behind febrile seizures?
Fever increases neuronal excitability and lowers seizure threshold in genetically predisposed children.
49
How do febrile seizures typically present?
Typical presentation: tonic-clonic convulsions shortly after fever onset, brief duration, and rapid recovery.
50
What features suggest a complex febrile seizure?
Focal onset, prolonged duration (>15 min), recurrence within 24 hours, or postictal focal neurological deficits suggest complex febrile seizure.
51
What is the initial management of a febrile seizure?
Initial ABC assessment, manage airway, ensure safety, treat fever; administer benzodiazepines if seizure is prolonged (>5 minutes).
52
Are routine investigations needed after a simple febrile seizure?
No; routine labs, EEG, or neuroimaging are not needed for a first simple febrile seizure in a well-appearing child.
53
When is neuroimaging indicated in febrile seizures?
Neuroimaging is indicated in complex febrile seizures, focal signs, prolonged postictal state, or abnormal development.
54
What is the role of EEG in febrile seizures?
EEG is not routinely needed for simple febrile seizures but may be done if there are recurrent complex features.
55
Do febrile seizures require long-term antiepileptic therapy?
No; antiepileptic therapy is not recommended for simple febrile seizures due to benign prognosis.
56
What is the risk of recurrence of febrile seizures?
Recurrence rate: ~30% after first episode, up to 50% after second episode.
57
What is the risk of developing epilepsy after febrile seizures?
Risk of epilepsy is slightly increased (~2–7%), higher with complex seizures, neurodevelopmental delay, or family history of epilepsy.
58
How can parents be counseled regarding febrile seizures?
Parents should be reassured of the benign nature, instructed on first aid during seizures, and told recurrence is not dangerous.
59
Are antipyretics effective in preventing febrile seizures?
Antipyretics help comfort but do not prevent febrile seizures.
60
What is the overall prognosis for children with febrile seizures?
Prognosis is excellent; most children outgrow febrile seizures by 5–6 years without long-term consequences.
61
What is cerebral palsy (CP)?
A1: CP is a group of permanent, non-progressive disorders of movement and posture due to brain
injury or malformation occurring before, during, or shortly after birth, affecting muscle tone,
coordination, and motor function. It is the most common motor disability in childhood.
62
What is the pathophysiology of CP?
CP results from damage to the motor control centers in the developing brain, usually due to ischemia, infection, or other insults before, during, or shortly after birth.
63
What are the major types of CP based on motor findings?
A2: 1. Spastic (most common, increased muscle tone and reflexes)
2. Dyskinetic (involuntary movements, dystonia, chorea)
3. Ataxic (balance and coordination problems)
4. Mixed (features of multiple types)
64
What is spastic cerebral palsy?
Spastic CP is characterized by hypertonia, exaggerated reflexes (hyperreflexia), clonus, and
muscle stiffness. It can be classified as hemiplegic (one side of the body), diplegic (lower limbs more
than upper limbs), or quadriplegic (all four limbs).
65
What is dyskinetic cerebral palsy?
Dyskinetic CP involves involuntary, uncontrolled movements. Subtypes include:
- Dystonia (slow, twisting postures)
- Chorea (rapid, jerky movements)
- Athetoid (writhing, slow movements)
Associated with basal ganglia damage.
66
What is ataxic cerebral palsy?
Ataxic CP is characterized by poor balance, uncoordinated movements, intention tremors, and
difficulty with fine motor tasks. It is often associated with cerebellar damage.
67
What are mixed types of CP?
Mixed CP includes features of more than one type, commonly spastic and dyskinetic together.
68
What are common prenatal causes of CP?
Prenatal: prematurity, intrauterine infections (e.g., CMV, toxoplasmosis), maternal thyroid disorders, congenital malformations, intrauterine stroke.
69
What are common perinatal causes of CP?
Perinatal: birth asphyxia, low birth weight, intraventricular hemorrhage, perinatal stroke.
70
What are common postnatal causes of CP?
Postnatal: meningitis, encephalitis, traumatic brain injury, kernicterus.
71
What are the early signs of CP in infants?
Delayed milestones, persistent primitive reflexes, abnormal muscle tone (either hypotonia or hypertonia), scissoring of legs, hand preference before 1 year.
72
What is the role of neuroimaging in CP diagnosis?
MRI is the preferred imaging to identify brain lesions associated with CP and guide evaluation of etiology.
73
What is the Gross Motor Function Classification System (GMFCS)?
GMFCS is a standardized system to classify the severity of motor impairment in CP from Level I (mild) to Level V (severe).
74
What associated conditions are seen in children with CP?
Associated conditions: intellectual disability, epilepsy, visual/hearing impairment, feeding difficulties, behavioral problems, scoliosis.
75
What is the role of physical and occupational therapy in CP?
Therapies improve mobility, function, self-care skills, and reduce contractures through stretching, bracing, and assistive devices.
76
What medications are used to manage spasticity in CP?
Medications: baclofen (oral or intrathecal), diazepam, tizanidine, dantrolene.
77
When is orthopedic surgery considered in CP?
Surgery is considered for severe contractures, joint dislocations, scoliosis, or when spasticity interferes with function.
78
What is selective dorsal rhizotomy?
Selective dorsal rhizotomy involves cutting sensory nerve rootlets to reduce spasticity in selected children with spastic CP.
79
What is the role of botulinum toxin in CP?
Botulinum toxin A injections reduce focal spasticity, especially in lower limbs, and improve function temporarily.
80
What is the long-term prognosis for children with CP?
Prognosis depends on type and severity; many achieve ambulation and functional independence with therapy, but some require lifelong care.
81
What are pediatric neuromuscular disorders (NMDs)?
Pediatric NMDs are a group of inherited or acquired disorders affecting muscle function, motor neurons, peripheral nerves, or neuromuscular junctions.
82
What is Duchenne muscular dystrophy (DMD)?
DMD is a severe X-linked recessive muscular dystrophy caused by absence of dystrophin, leading to progressive muscle degeneration.
83
What is the genetic basis of DMD?
DMD is caused by mutations in the DMD gene on Xp21, resulting in absence of the dystrophin protein.
84
What are the clinical features of DMD?
Features: delayed walking, calf pseudohypertrophy, frequent falls, toe walking, progressive proximal muscle weakness, Gowers' sign.
85
What is the Gowers' sign?
Gowers' sign is a maneuver where the child uses hands to 'walk up' their thighs when rising from the floor, indicating proximal muscle weakness.
86
How is DMD diagnosed?
Elevated creatine kinase (CK), confirmed by genetic testing for DMD mutations, and muscle biopsy (if needed).
87
What are common complications of DMD?
Complications: cardiomyopathy, respiratory failure, scoliosis, contractures, and reduced life expectancy (~20–30 years).
88
What is the role of corticosteroids in DMD?
Corticosteroids (e.g., prednisone, deflazacort) slow disease progression, improve strength, and delay loss of ambulation.
89
What is spinal muscular atrophy (SMA)?
SMA is an autosomal recessive motor neuron disease caused by degeneration of anterior horn cells due to SMN1 gene mutations.
90
What are the types of SMA and their severity?
SMA Types:
- Type 1: severe, onset <6 months, non-sitters
- Type 2: onset 6–18 months, sitters
- Type 3: mild, onset >18 months, walkers
- Type 4: adult-onset.
91
What are the clinical features of SMA type 1 (Werdnig-Hoffmann disease)?
Type 1 SMA: profound hypotonia ('floppy baby'), weak cry, feeding difficulties, tongue fasciculations, and respiratory failure.
92
How is SMA diagnosed?
Diagnosis: SMN1 gene testing, electromyography (EMG), and sometimes muscle biopsy.
93
What is the role of SMN1 gene in SMA?
SMN1 gene deletion or mutation leads to reduced survival motor neuron protein, crucial for motor neuron survival.
94
What treatments are available for SMA?
"GENE + SUPPORT"
G - Gene Therapy: Onasemnogene Abeparvovec (Zolgensma) – replaces the faulty SMN1 gene.
S - Splicing Modifiers:
Nusinersen (Spinraza) – boosts SMN2 protein production.
Risdiplam (Evrysdi) – oral medication for continuous SMN2 support.
S - Supportive Care:
Respiratory support – ventilators, BiPAP.
Nutritional support – high-calorie diet, feeding tubes if needed.
Physical therapy – to keep muscles strong.
95
What is Becker muscular dystrophy and how does it differ from DMD?
Becker MD is a milder allelic variant of DMD with partially functional dystrophin, later onset, and slower progression.
96
What are congenital myopathies?
Congenital myopathies are genetic muscle disorders presenting at birth or early infancy with hypotonia and muscle weakness (e.g., nemaline, central core).
97
What are common features of neuromuscular junction disorders in children?
Neuromuscular junction disorders: fatigable weakness, ptosis, poor feeding, hypotonia (e.g., myasthenia gravis, botulism).
98
What is myasthenia gravis in children?
Pediatric myasthenia gravis is an autoimmune disorder with antibodies against acetylcholine receptors, leading to fluctuating weakness.
99
How is myasthenia gravis diagnosed?
Diagnosis: anti-AChR antibodies, repetitive nerve stimulation, response to anticholinesterases, and EMG.
100
What is the general approach to managing pediatric NMDs?
Multidisciplinary care: neurology, physical therapy, genetic counseling, respiratory support, orthopedic management, and emerging gene-based therapies.
101
What is Guillain-Barré Syndrome (GBS)?
GBS is an acute, immune-mediated polyneuropathy characterized by rapidly progressive, ascending weakness and areflexia.
102
What is the pathophysiology of GBS?
It is thought to be caused by molecular mimicry, where antibodies cross-react with peripheral nerve components following infection.
103
What are the common antecedent infections associated with GBS?
Campylobacter jejuni, CMV, EBV, Mycoplasma pneumoniae, and recent vaccinations are common antecedents.
104
What are the major clinical variants of GBS?
Variants include acute inflammatory demyelinating polyneuropathy (AIDP), Miller Fisher syndrome, AMAN, and AMSAN.
105
What are the characteristic clinical features of classic GBS?
Features: ascending flaccid paralysis, areflexia, mild sensory symptoms, and possible cranial nerve involvement.
106
What is the typical progression of weakness in GBS?
Weakness usually starts in the legs and ascends proximally over hours to days; can involve arms and face.
107
What are the key autonomic dysfunctions seen in GBS?
Autonomic issues include tachycardia, labile blood pressure, arrhythmias, urinary retention, and ileus.
108
What are red flags suggesting respiratory compromise in GBS?
Signs: rapid progression of weakness, bulbar involvement, weak cough, inability to lift head, and declining vital capacity.
109
What reflex changes are seen in GBS?
Areflexia or hyporeflexia is a hallmark feature of GBS in affected limbs.
110
What is the role of cerebrospinal fluid (CSF) analysis in GBS?
CSF analysis helps support diagnosis and rule out differential diagnoses.
111
What are typical CSF findings in GBS?
Typical CSF shows albuminocytologic dissociation: elevated protein with normal WBC count (after 1st week).
112
What is the role of nerve conduction studies (NCS) in GBS?
NCS/EMG show slowed conduction velocities or absent responses, confirming demyelination or axonal damage.
113
What is the Brighton criteria in GBS diagnosis?
Brighton criteria are diagnostic levels based on clinical features, CSF, and electrophysiological studies.
114
What infections can mimic or overlap with GBS in children?
Polio, botulism, myasthenia gravis, transverse myelitis, and tick paralysis may mimic GBS.
115
What are the first-line treatments for GBS?
First-line treatments: IVIG and plasma exchange (plasmapheresis).
116
What is the role of IVIG in GBS treatment?
IVIG (2 g/kg over 2–5 days) is effective, widely used in children, and preferred due to ease of administration.
117
What is the role of plasmapheresis in GBS?
Plasmapheresis removes pathogenic antibodies; used if IVIG is contraindicated or ineffective.
118
Are corticosteroids recommended in the treatment of GBS?
Corticosteroids are not effective and are not recommended for GBS treatment.
119
What supportive care is essential in GBS management?
Supportive care includes respiratory monitoring, DVT prophylaxis, pain management, nutrition, and physiotherapy.
120
What is the prognosis of GBS in children?
Most children recover fully over weeks to months; some may have residual weakness or relapses.
121
What is meningitis?
Meningitis is inflammation of the meninges, the protective membranes covering the brain and spinal cord, usually caused by infection.
122
What are the most common bacterial causes of meningitis in neonates?
Neonatal pathogens: Group B Streptococcus, E. coli, Listeria monocytogenes, Klebsiella species.
123
What are the common bacterial pathogens in infants and older children?
Older infants/children: Streptococcus pneumoniae, Neisseria meningitidis, Haemophilus influenzae type b (less common now due to vaccination).
124
What are the common viral causes of meningitis in children?
Common viruses: enteroviruses (echovirus, coxsackievirus), HSV, mumps, CMV, EBV, adenovirus.
125
What are the clinical features of bacterial meningitis in neonates?
Symptoms: fever, irritability, poor feeding, lethargy, bulging fontanelle, vomiting, seizures, apnea.
126
What are the clinical features of bacterial meningitis in older infants and children?
Features: high fever, headache, vomiting, photophobia, neck stiffness, altered consciousness, seizures.
127
How does viral meningitis differ clinically from bacterial meningitis?
Viral meningitis tends to be milder, self-limited, with preserved sensorium and less systemic toxicity.
128
What are red flag signs in meningitis requiring urgent attention?
Red flags: seizures, signs of raised intracranial pressure, focal neurologic deficits, shock, purpura, decreased consciousness.
129
What physical exam signs suggest meningeal irritation?
Brudzinski's sign, Kernig's sign, neck stiffness — often absent in neonates.
130
When should lumbar puncture (LP) be performed in suspected meningitis?
LP should be performed as soon as possible in stable patients before antibiotics; delay if signs of raised ICP or instability.
131
What are contraindications to immediate LP?
Contraindications: signs of raised ICP, focal neurological deficits, cardiorespiratory instability, bleeding risk.
132
What are typical CSF findings in bacterial meningitis?
Bacterial CSF: high WBC (neutrophils), low glucose, high protein, positive Gram stain/culture.
133
What are typical CSF findings in viral meningitis?
Viral CSF: moderate lymphocytic pleocytosis, normal or mildly elevated protein, normal glucose, negative culture.
134
What initial laboratory tests should be ordered in suspected meningitis?
CBC, blood cultures, CRP, glucose, electrolytes, coagulation profile, and CSF analysis (when safe).
135
What is the empiric antibiotic therapy for neonatal meningitis?
Empiric therapy: ampicillin + gentamicin or cefotaxime (avoid ceftriaxone in neonates due to bilirubin displacement).
136
What is the empiric antibiotic therapy for infants >1 month and children?
Empiric therapy: vancomycin + third-generation cephalosporin (e.g., cefotaxime or ceftriaxone).
137
What is the role of corticosteroids in bacterial meningitis?
Dexamethasone may reduce hearing loss in Hib meningitis; should be given before or with first antibiotic dose.
138
How is viral meningitis managed?
Supportive: hydration, antipyretics, analgesia. Acyclovir if HSV suspected. Most cases resolve without complications.
139
What are complications of bacterial meningitis?
Complications: hearing loss, hydrocephalus, seizures, cerebral infarction, subdural effusion, SIADH, death.
140
What is the prognosis of meningitis in children?
Prognosis depends on age, pathogen, and treatment timing; early treatment improves outcomes. Hearing loss is a common sequela.
141
What is encephalitis?
Encephalitis is inflammation of the brain parenchyma, typically due to viral or autoimmune causes, resulting in altered mental status and neurological deficits.
142
What are the most common causes of encephalitis in children?
Common causes include herpes simplex virus, enteroviruses, arboviruses (e.g., West Nile), and autoimmune mechanisms (e.g., anti-NMDA receptor encephalitis).
143
How does viral encephalitis differ from bacterial meningitis?
Viral encephalitis presents more with altered mental status, seizures, and focal neurological signs, while bacterial meningitis often presents with signs of meningeal irritation.
144
What is autoimmune encephalitis?
Autoimmune encephalitis is an immune-mediated inflammation of the brain, often associated with antibodies to neuronal cell-surface proteins (e.g., NMDA receptor).
145
What are the clinical features of encephalitis in children?
Features: fever, headache, altered consciousness, behavioral changes, seizures, focal neurologic deficits, movement disorders.
146
What are early warning signs of severe encephalitis?
Early red flags: persistent fever, new-onset seizures, confusion, hallucinations, focal deficits, rapid deterioration.
147
Which viruses commonly cause encephalitis in pediatrics?
HSV, enteroviruses, arboviruses, influenza, EBV, adenovirus, and mumps are common viral causes.
148
What is herpes simplex encephalitis and why is it important?
HSV encephalitis is a life-threatening infection affecting the temporal lobes, requiring prompt treatment with acyclovir to prevent mortality and disability.
149
What are the characteristic findings of HSV encephalitis on neuroimaging?
MRI may show hyperintensities in the temporal lobes and limbic system; EEG may show periodic lateralized epileptiform discharges (PLEDs).
150
How is encephalitis differentiated from meningitis clinically?
Encephalitis typically includes altered sensorium and focal deficits, which are less common in isolated meningitis.
151
What investigations are essential in suspected encephalitis?
Tests: CBC, CRP, electrolytes, CSF analysis, CSF PCR (especially HSV), blood/urine cultures, EEG, brain imaging (MRI).
152
What CSF findings suggest viral encephalitis?
CSF: lymphocytic pleocytosis, mildly elevated protein, normal glucose (except in some viral infections like mumps or LCMV).
153
What is the role of PCR in encephalitis diagnosis?
PCR testing of CSF is the gold standard for viral encephalitis diagnosis, particularly HSV, enteroviruses.
154
When is brain MRI indicated in encephalitis?
MRI is more sensitive than CT for detecting brain involvement and should be performed in all suspected cases.
155
What EEG changes are commonly seen in encephalitis?
EEG may show generalized slowing, PLEDs in HSV, or focal abnormalities; useful in diagnosis and monitoring seizures.
156
What is the role of acyclovir in encephalitis?
Acyclovir (10 mg/kg IV every 8 hours for 14–21 days) should be started immediately if HSV encephalitis is suspected.
157
How is autoimmune encephalitis diagnosed?
Diagnosis includes detection of neuronal antibodies (e.g., anti-NMDAR) in CSF or serum; often supported by MRI, EEG, and clinical features.
158
What supportive care measures are essential in encephalitis management?
Supportive care: airway protection, antipyretics, seizure control, IV fluids, ICP monitoring, physical/occupational therapy.
159
What are common complications of encephalitis?
Complications: seizures, cognitive impairment, focal deficits, coma, death, behavioral and psychiatric sequelae.
160
What is the prognosis of pediatric encephalitis?
Prognosis varies by etiology; HSV encephalitis has high morbidity if untreated, but early therapy improves outcomes. Autoimmune encephalitis has good response to immunotherapy.
161
What is hydrocephalus?
Hydrocephalus is the abnormal accumulation of cerebrospinal fluid (CSF) within the brain's ventricles, leading to increased intracranial pressure and ventricular dilation.
162
What are the types of hydrocephalus?
Types include communicating (impaired absorption), non-communicating (obstructive), normal pressure, and ex-vacuo (due to brain atrophy).
163
What is communicating hydrocephalus?
Communicating hydrocephalus occurs when CSF flow is not obstructed within the ventricles but is impaired at the arachnoid villi or venous system.
164
What is non-communicating (obstructive) hydrocephalus?
Non-communicating hydrocephalus occurs when CSF flow is blocked within the ventricular system (e.g., aqueductal stenosis, tumor).
165
What are the common causes of hydrocephalus in neonates?
Neonatal causes: intraventricular hemorrhage (IVH), congenital malformations (e.g., Dandy-Walker, Chiari malformation), infection (TORCH).
166
What are the common causes of hydrocephalus in older children?
Older children: post-meningitic scarring, brain tumors, aqueductal stenosis, trauma, spinal dysraphism.
167
What is normal pressure hydrocephalus (NPH)?
NPH presents in older individuals with triad: gait disturbance, urinary incontinence, and dementia, usually not seen in children.
168
What are the clinical features of hydrocephalus in infants?
Infants: increasing head circumference, bulging fontanelle, setting sun sign, vomiting, irritability, poor feeding.
169
What are the clinical signs of hydrocephalus in older children?
Older children: headache, vomiting (worse in morning), papilledema, sixth nerve palsy, lethargy, visual changes.
170
How is head circumference useful in diagnosing hydrocephalus?
Serial head circumference plots above 2 SDs for age may suggest hydrocephalus and prompt imaging.
171
What imaging studies are used to diagnose hydrocephalus?
Ultrasound (in open fontanelle), CT scan, and MRI are used for diagnosis.
172
What are the classic imaging findings in hydrocephalus?
Findings: ventricular enlargement, thinning of cortex, periventricular lucency (transependymal CSF flow).
173
What is the role of cranial ultrasound in neonates?
Cranial ultrasound is useful in neonates with open fontanelle to detect ventricular dilation non-invasively.
174
When is MRI preferred over CT in hydrocephalus evaluation?
MRI is preferred for detailed anatomy, tumor evaluation, and surgical planning; CT is faster in emergencies.
175
What are the initial management goals in acute hydrocephalus?
Goals: reduce ICP, stabilize neurologic status, prevent further brain injury, and identify underlying cause.
176
What are the surgical treatment options for hydrocephalus?
Options: VP shunt, ventriculoatrial shunt, endoscopic third ventriculostomy (ETV), temporary external ventricular drain (EVD).
177
What is a ventriculoperitoneal (VP) shunt?
VP shunt diverts CSF from ventricles to the peritoneal cavity for absorption.
178
What is endoscopic third ventriculostomy (ETV)?
ETV creates a bypass from third ventricle to the subarachnoid space to relieve obstruction without a shunt.
179
What are the complications of VP shunt placement?
Complications: infection, blockage, overdrainage, subdural hematoma, abdominal pseudocyst, mechanical failure.
180
What is the prognosis for children with hydrocephalus?
With timely intervention and regular follow-up, many children lead normal lives, though some may have learning or developmental issues.
181
What are neural tube defects (NTDs)?
NTDs are congenital malformations resulting from incomplete closure of the neural tube, affecting the brain and/or spinal cord.
182
What are the major types of NTDs?
Types include spina bifida (occulta, meningocele, myelomeningocele), anencephaly, and encephalocele.
183
What is spina bifida occulta?
Spina bifida occulta is a mild form where the vertebral arch fails to close, usually without neurological deficits.
184
What is meningocele?
Meningocele involves herniation of meninges through a vertebral defect, without neural tissue involvement.
185
What is myelomeningocele?
Myelomeningocele is the most severe form of spina bifida, with herniation of meninges and spinal cord through the defect.
186
What is anencephaly?
Anencephaly is a fatal condition with absence of a major portion of the brain, skull, and scalp due to failure of anterior neural tube closure.
187
What is encephalocele?
Encephalocele is a sac-like protrusion of brain and meninges through a skull defect, often occipital.
188
When does the neural tube normally close during embryogenesis?
The neural tube closes between day 21 and 28 of gestation, often before a woman knows she is pregnant.
189
What are the risk factors for NTDs?
Risk factors: folic acid deficiency, maternal diabetes, obesity, hyperthermia, antiepileptic drugs (valproate, carbamazepine), family history.
190
How does folic acid deficiency contribute to NTDs?
Folic acid is essential for DNA synthesis and cell division during neural tube formation; deficiency increases risk of closure failure.
191
What are the clinical features of spina bifida occulta?
Occulta may present with sacral dimple, tuft of hair, hemangioma, or lipoma; rarely associated with neurological deficits.
192
What are the features of myelomeningocele?
Visible sac on the back, lower limb weakness or paralysis, sensory loss, bladder/bowel dysfunction, orthopedic deformities.
193
What associated conditions are seen with myelomeningocele?
Associated conditions: hydrocephalus (due to Arnold-Chiari II malformation), neurogenic bladder, scoliosis, tethered cord syndrome.
194
How are NTDs diagnosed prenatally?
Prenatal diagnosis includes elevated maternal serum alpha-fetoprotein (AFP), fetal ultrasound, and fetal MRI if needed.
195
What maternal serum marker is elevated in NTDs?
Maternal serum AFP is elevated in open NTDs like myelomeningocele or anencephaly.
196
What imaging studies confirm NTD diagnosis postnatally?
Postnatal diagnosis confirmed by spinal ultrasound (in neonates), CT, or MRI of the spine and brain.
197
What is the role of surgical repair in NTDs?
Surgical repair is performed early after birth to prevent infection and further neurologic damage; in utero repair is also possible.
198
What preventive measures reduce NTD risk?
Prevention: maternal folic acid supplementation (400–800 mcg daily preconception and during early pregnancy).
199
What is the recurrence risk of NTDs in future pregnancies?
Recurrence risk is ~2–5% after one affected pregnancy; higher with multiple affected children or folate deficiency.
200
What is the prognosis for children with myelomeningocele?
Prognosis varies with lesion level and associated complications; with multidisciplinary care, many children live productive lives.
201
What are the major types of primary headache disorders in children?
Primary types include migraine (with or without aura), tension-type headache (TTH), and cluster headache.
202
What are common secondary causes of headache in pediatrics?
Secondary causes: infections (e.g., meningitis), trauma, brain tumors, idiopathic intracranial hypertension, sinusitis, medication overuse.
203
What are the diagnostic criteria for pediatric migraine without aura?
At least 5 attacks lasting 1–72 hrs, with at least 2 of the following: unilateral or bilateral location, pulsating, moderate/severe intensity, aggravated by activity; and at least 1 of: nausea/vomiting or photophobia/phonophobia.
204
What are the typical features of migraine with aura in children?
Aura: transient neurologic symptoms (visual, sensory, speech) that precede headache; commonly scintillating scotomas, flashing lights.
205
What are tension-type headaches (TTH)?
TTHs are bilateral, non-pulsating headaches of mild-to-moderate intensity without nausea or photophobia, often described as 'tight band' pressure.
206
How do migraines differ from tension-type headaches?
Migraines are typically unilateral, pulsatile, severe, associated with nausea and light/sound sensitivity, and worsened by activity; TTHs are milder and lack these features.
207
What are the common triggers for pediatric migraines?
Triggers: stress, lack of sleep, dehydration, skipping meals, menstruation, certain foods (chocolate, cheese), and bright lights.
208
What are the red flags (SNOOP) in pediatric headache evaluation?
SNOOP: Systemic signs, Neurological deficits, Onset sudden, Older age of onset (>6 years), Progressive worsening.
209
What is the role of neuroimaging in pediatric headaches?
Imaging (MRI preferred) is indicated for red flags, abnormal neuro exam, or suspected secondary causes.
210
What is the initial workup for recurrent pediatric headaches?
Workup includes headache history, neurological exam, growth parameters, visual acuity, fundoscopy, and lab tests if systemic symptoms.
211
When should lumbar puncture be considered in a child with headache?
LP is indicated if infection, subarachnoid hemorrhage, or idiopathic intracranial hypertension is suspected.
212
What is the role of headache diaries?
Headache diaries help track frequency, duration, severity, and potential triggers to guide diagnosis and treatment.
213
What non-pharmacologic strategies are recommended for headache management?
Lifestyle: regular sleep, hydration, meals, physical activity, stress management, screen time reduction.
214
What are acute treatment options for pediatric migraines?
Acute treatment: acetaminophen, ibuprofen, and in adolescents, triptans (e.g., sumatriptan nasal spray).
215
What medications are contraindicated in children for migraine relief?
Ergot derivatives and opioid analgesics are not recommended in children due to safety concerns.
216
When is migraine prophylaxis considered in children?
Prophylaxis is considered if ≥4 disabling migraines/month or if acute therapy is insufficient or contraindicated.
217
What are common prophylactic medications for pediatric migraines?
Common prophylactic agents: amitriptyline, topiramate, propranolol, cyproheptadine (in younger children).
218
What are the potential side effects of amitriptyline and topiramate?
Amitriptyline: sedation, weight gain, arrhythmias; Topiramate: cognitive slowing, weight loss, paresthesia.
219
How do cluster headaches present in older children and adolescents?
Cluster headaches are rare but present with severe unilateral periorbital pain, autonomic symptoms (lacrimation, ptosis), and occur in clusters.
220
What is the prognosis of primary headaches in childhood?
Most children with primary headaches improve with age; prognosis is generally good with appropriate management.
221
What is pediatric stroke?
Pediatric stroke is an acute neurological injury due to disruption of blood flow to the brain, occurring in neonates, infants, or children.
222
What are the types of stroke seen in children?
Types include ischemic stroke (arterial ischemic stroke and cerebral sinovenous thrombosis) and hemorrhagic stroke (intracerebral and subarachnoid).
223
What are the common risk factors for ischemic stroke in children?
Risk factors: congenital heart disease, sickle cell disease, arterial dissection, infections, thrombophilia, trauma, vasculitis.
224
What are the common causes of hemorrhagic stroke in pediatrics?
Hemorrhagic stroke causes: arteriovenous malformations (AVMs), trauma, hematologic disorders (e.g., hemophilia), brain tumors.
225
What is perinatal stroke?
Perinatal stroke occurs between 20 weeks gestation and 28 days of life, often due to embolism, birth trauma, or clotting disorders.
226
What are the typical clinical features of stroke in older children?
Sudden hemiparesis, facial weakness, speech difficulty, seizures, headache, altered consciousness, or ataxia.
227
How does stroke present in neonates?
Neonatal presentation: seizures (often focal), lethargy, hypotonia, apnea, and poor feeding.
228
What are red flag signs of stroke in children?
Red flags: acute focal deficits, new-onset seizures, altered consciousness, severe headache with vomiting, unequal pupils.
229
What conditions are associated with arterial ischemic stroke (AIS)?
Conditions: congenital heart defects, moyamoya disease, sickle cell anemia, varicella vasculopathy, trauma, prothrombotic states.
230
What is cerebral sinovenous thrombosis (CSVT)?
CSVT is thrombosis of cerebral venous sinuses, causing venous infarction, hemorrhage, and raised intracranial pressure.
231
What are the common symptoms of CSVT in children?
Symptoms: headache, vomiting, papilledema, lethargy, seizures, bulging fontanelle in infants.
232
What imaging is used for stroke diagnosis in children?
MRI with diffusion-weighted imaging and MRA/MRV are preferred to confirm stroke and define vascular anatomy.
233
What are the roles of MRI and MRA in pediatric stroke?
MRI shows acute infarction; MRA visualizes arterial flow; MRV identifies venous thrombosis.
234
When is CT preferred in stroke evaluation?
CT is useful for acute hemorrhage or trauma when MRI is not available or urgent evaluation is needed.
235
What lab investigations are indicated in pediatric stroke?
Tests: CBC, PT/PTT, D-dimer, fibrinogen, thrombophilia panel, cardiac workup (ECHO), infectious screening.
236
What is the acute management of pediatric ischemic stroke?
Supportive care (airway, fluids), antithrombotic therapy (aspirin or LMWH), management of underlying cause.
237
What are the contraindications for thrombolysis in pediatric stroke?
Thrombolysis is rarely used in pediatrics due to limited data and higher risk; contraindications include recent surgery, bleeding diathesis.
238
How is hemorrhagic stroke managed in children?
Management includes BP control, neurosurgical intervention for hydrocephalus or hematoma evacuation, supportive ICU care.
239
What long-term therapies are used for stroke prevention in pediatrics?
Long-term: antiplatelet or anticoagulant therapy, physical/occupational therapy, treatment of underlying condition.
240
What is the prognosis for pediatric stroke survivors?
Prognosis varies by type, location, and timeliness of treatment; many children have residual deficits but can recover with rehabilitation.
241
What are neurocutaneous syndromes?
Neurocutaneous syndromes are genetic disorders affecting the skin, brain, and other organs, characterized by developmental abnormalities and tumor growth.
242
What are the major neurocutaneous syndromes in children?
Major syndromes: neurofibromatosis type 1 and 2 (NF1, NF2), tuberous sclerosis complex (TSC), Sturge-Weber syndrome (SWS), and von Hippel-Lindau disease.
243
What is neurofibromatosis type 1 (NF1)?
NF1 is an autosomal dominant disorder due to mutations in the NF1 gene on chromosome 17, affecting the neurofibromin protein.
244
What are the diagnostic criteria for NF1?
Diagnostic criteria: ≥6 café-au-lait spots, axillary/inguinal freckling, ≥2 neurofibromas or 1 plexiform neurofibroma, optic glioma, ≥2 Lisch nodules, distinctive osseous lesion, or first-degree relative with NF1.
245
What are the common features of NF1?
Café-au-lait macules, axillary freckling, neurofibromas, learning disabilities, scoliosis, optic gliomas.
246
What are complications associated with NF1?
Complications: optic pathway gliomas, plexiform neurofibromas, malignancies (MPNST – Malignant Peripheral Nerve Sheath Tumor
), skeletal dysplasia, ADHD, epilepsy.
247
What is neurofibromatosis type 2 (NF2)?
NF2 is an autosomal dominant condition caused by mutations in the NF2 gene, encoding merlin protein.
248
What are hallmark features of NF2?
Bilateral vestibular schwannomas (acoustic neuromas), hearing loss, cataracts, spinal tumors.
249
What is tuberous sclerosis complex (TSC)?
TSC is an autosomal dominant disorder caused by mutations in TSC1 or TSC2, leading to hamartomas in multiple organs.
250
What are the diagnostic features of TSC?
🧬 Diagnosis is confirmed if:
Pathogenic TSC1 or TSC2 mutation
(even if no clinical signs)
OR
2 major features
OR
1 major + ≥2 minor features
⭐️ MAJOR FEATURES
(Think: "Skin, Brain, Heart, Kidney, Lung")
🔸 Skin
≥3 Hypomelanotic macules (white spots >5 mm
≥3 Facial angiofibromas or 1 fibrous cephalic plaque
≥2 Ungual fibromas (periungual/toenail growths)
Shagreen patch (thick leathery skin over lumbosacral area)
🔸 Brain
Cortical dysplasia (tubers or migration lines)
Subependymal nodules
SEGA – Subependymal Giant Cell Astrocytoma
🔸 Heart
Cardiac rhabdomyoma
🔸 Kidney
≥2 Angiomyolipomas
🔸 Lung (adult females)
Lymphangioleiomyomatosis (LAM)
🔹 MINOR FEATURES
“Confetti” skin lesions
≥3 Dental enamel pits
Intraoral fibromas (≥2)
Retinal achromic patches or hamartomas
Multiple renal cysts
Nonrenal hamartomas
🎯 Mnemonic for Major Features:
"HAMARTOMAS"
H: Hamartomas in CNS/skin
A: Angiofibromas (face)
M: Mitral regurgitation (cardiac rhabdomyoma)
A: Ash leaf spots (hypomelanotic macules)
R: Renal angiomyolipomas
T: Tubers (cortical)
O: Other hamartomas
M: Mental retardation (ID)
A: Angiomyolipomas
S: Seizures/Subependymal nodules/SEGA
251
What are common neurological manifestations of TSC?
Epilepsy (infantile spasms, focal seizures), developmental delay, intellectual disability, autism spectrum disorder.
252
What dermatological findings are seen in TSC?
Hypomelanotic macules (ash leaf spots), facial angiofibromas, shagreen patches, confetti skin lesions, periungual fibromas.
253
What is the significance of subependymal giant cell astrocytoma (SEGA) in TSC?
SEGA can obstruct CSF flow and cause hydrocephalus; requires regular brain imaging and may need surgical or mTOR inhibitor therapy.
254
What other systems are affected in TSC?
Renal (angiomyolipomas, cysts), cardiac (rhabdomyomas), pulmonary (lymphangioleiomyomatosis), and ophthalmic involvement.
255
What is Sturge-Weber syndrome (SWS)?
SWS is a sporadic neurocutaneous disorder characterized by facial capillary malformations and leptomeningeal angiomas.
256
What are the clinical features of SWS?
Port-wine stain (trigeminal nerve distribution), seizures, intellectual disability, glaucoma, hemiparesis.
257
What imaging finding is characteristic of SWS?
CT/MRI: leptomeningeal angiomas with tram-track calcifications, especially in occipital/parietal lobes.
258
How is SWS managed?
Seizure control, glaucoma treatment, physical therapy, laser treatment for port-wine stain, supportive therapies.
259
How are neurocutaneous syndromes generally diagnosed?
Diagnosis involves clinical criteria, dermatologic and neurologic examination, brain imaging (MRI), and genetic testing.
260
What is the general approach to managing neurocutaneous syndromes?
Multidisciplinary care: neurology, dermatology, ophthalmology, oncology, genetics; symptomatic management and surveillance imaging.
261
What is developmental delay?
Developmental delay is failure to achieve age-appropriate developmental milestones in one or more areas: gross motor, fine motor, speech/language, cognitive, or social.
262
What are the domains of development assessed in children?
Domains: gross motor, fine motor, speech/language, cognitive, social/emotional, and adaptive/self-help.
263
What is global developmental delay (GDD)?
Global developmental delay is significant delay in two or more developmental domains in children under 5 years old.
264
What are common causes of developmental delay?
Causes include prematurity, cerebral palsy, genetic syndromes (e.g., Down), metabolic disorders, autism, malnutrition, psychosocial deprivation.
265
What is the importance of early identification of developmental delay?
Early identification allows timely intervention, improves outcomes, and may reveal underlying conditions needing treatment.
266
What are red flag signs of developmental delay?
Red flags: loss of previously acquired skills, no babbling by 12 months, no single words by 16 months, no walking by 18 months, persistent toe walking.
267
How is developmental delay evaluated in children?
Evaluation includes history, physical/neurological exam, hearing/vision tests, developmental screening, labs/genetic/metabolic testing, imaging if indicated.
268
What standardized tools are used for developmental screening?
Tools: Denver Developmental Screening Test (DDST), Ages and Stages Questionnaire (ASQ), Modified Checklist for Autism in Toddlers (M-CHAT).
269
What is autism spectrum disorder (ASD)?
ASD is a neurodevelopmental disorder characterized by deficits in social communication and restricted, repetitive behaviors.
270
What are the core features of ASD?
Core features: persistent deficits in social interaction and communication, restricted/repetitive patterns of behavior, interests, or activities.
271
At what age do ASD symptoms typically appear?
Symptoms typically emerge between 12 and 24 months but may be recognized earlier or later depending on severity.
272
What are early signs of autism in toddlers?
Lack of eye contact, poor response to name, absence of joint attention, delayed speech, limited gestures, repetitive play.
273
Q: What are the DSM-5 diagnostic criteria for Autism Spectrum Disorder (ASD)?
1. **Social Communication Deficits** (All 3 present):
▪️ Impaired social reciprocity (e.g., conversation, emotion sharing).
▪️ Impaired nonverbal communication (e.g., eye contact, gestures).
▪️ Difficulty developing/maintaining relationships (e.g., friendships).
2. **Restricted/Repetitive Behaviors** (4/4 present, only 2 required):
▪️ Stereotyped/repetitive movements or speech (e.g., hand-flapping, echolalia).
▪️ Insistence on sameness/routines/rituals.
▪️ Highly fixated, intense interests.
▪️ Sensory hyper/hypo-reactivity (e.g., sound/texture sensitivity).
3. **Additional Criteria Met**:
▪️ Symptoms began in early development.
▪️ Causes significant functional impairment.
▪️ **Not** better explained by intellectual disability/global delay.
274
How is ASD diagnosed?
ASD diagnosis is clinical, based on history, observation, and standardized tools (e.g., ADOS, ADI-R); confirmed by developmental pediatrician or psychologist.
275
What are common comorbidities associated with ASD?
Comorbidities: intellectual disability, ADHD, anxiety, epilepsy, sleep disorders, GI issues, feeding problems.
276
What are evidence-based therapies for ASD?
Interventions: speech therapy, occupational therapy, behavioral therapy, early intensive intervention programs.
277
What is the role of Applied Behavior Analysis (ABA) in ASD management?
ABA is a structured therapy focused on improving specific behaviors such as communication, social skills, and learning.
278
What is the role of genetics in ASD evaluation?
Genetic testing (microarray, fragile X, MECP2) is recommended in all children with ASD, especially with dysmorphism or ID.
279
What is the role of early intervention in ASD?
Early intervention services before age 3 can significantly improve cognitive, language, and social outcomes.
280
What is the prognosis for children with ASD and developmental delay?
Prognosis depends on severity, presence of ID, language development, and access to early intervention; many improve with therapy but may require lifelong support.
281
What is Lennox-Gastaut Syndrome?
A severe epileptic encephalopathy of childhood, typically beginning between 1–7 years of age, characterized by multiple seizure types, developmental delay, and abnormal EEG.
282
What are the three core features of Lennox-Gastaut Syndrome?
1. Multiple seizure types
2. Characteristic EEG: slow spike-and-wave pattern
3. Cognitive and developmental impairment
283
What are the common seizure types in Lennox-Gastaut Syndrome?
Tonic seizures (especially during sleep), Atonic seizures (drop attacks), Atypical absence seizures, and sometimes tonic-clonic or myoclonic seizures.
284
What EEG findings are typical of Lennox-Gastaut Syndrome?
Slow spike-and-wave discharges (<2.5 Hz) in awake state; burst-suppression pattern in severe cases.
285
What are possible causes (etiologies) of Lennox-Gastaut Syndrome?
Idiopathic (unknown cause) or secondary to perinatal injury, brain malformations, CNS infections, tuberous sclerosis, or genetic/metabolic disorders.
286
How is Lennox-Gastaut Syndrome diagnosed?
Based on clinical history, seizure types, EEG showing slow spike-and-wave discharges, and MRI to identify structural causes.
287
What are the treatment options for Lennox-Gastaut Syndrome?
Anti-seizure medications (Valproic acid, Lamotrigine, Rufinamide, Topiramate, Clobazam, CBD), ketogenic diet, vagus nerve stimulation, and corpus callosotomy.
288
What is the prognosis of Lennox-Gastaut Syndrome?
Chronic, drug-resistant epilepsy with poor seizure control and persistent cognitive/behavioral impairments, often continuing into adulthood.
289
What is West Syndrome?
West Syndrome is an early childhood epileptic encephalopathy characterized by infantile spasms, hypsarrhythmia on EEG, and developmental regression or delay.
290
What is the classic triad of West Syndrome?
1. Infantile spasms
2. Hypsarrhythmia on EEG
3. Developmental delay or regression
291
What are infantile spasms?
Sudden, brief contractions of neck, trunk, and limbs often occurring in clusters, typically in infants aged 3–12 months.
292
What is hypsarrhythmia?
A chaotic, high-amplitude, disorganized EEG pattern with multifocal spikes and slow waves, characteristic of West Syndrome.
293
What are the causes of West Syndrome?
Can be idiopathic or secondary to brain malformations, hypoxic-ischemic encephalopathy, tuberous sclerosis, CNS infections, or metabolic/genetic disorders.
294
How is West Syndrome diagnosed?
Based on clinical presentation of spasms, EEG showing hypsarrhythmia, and neuroimaging (MRI) to assess for underlying structural abnormalities.
295
What is the treatment for West Syndrome?
First-line: Vigabatrin (especially in tuberous sclerosis) or adrenocorticotropic hormone (ACTH); other options include corticosteroids or ketogenic diet.
296
What is the prognosis of West Syndrome?
Varies depending on cause; idiopathic cases have better outcomes, while symptomatic cases often result in long-term cognitive and motor impairments.
297
What is Dravet Syndrome?
Dravet Syndrome is a rare, severe, genetic epileptic encephalopathy beginning in infancy, characterized by prolonged febrile and afebrile seizures, developmental delay, and multiple seizure types.
298
What is the typical age of onset for Dravet Syndrome?
Usually within the first year of life, often starting with febrile seizures.
299
What are the common seizure types in Dravet Syndrome?
Prolonged febrile seizures, hemiclonic seizures, myoclonic seizures, generalized tonic-clonic seizures, absence seizures, and status epilepticus.
300
What gene is most commonly associated with Dravet Syndrome?
SCN1A gene mutation (sodium channel gene) is found in over 80% of cases.
301
What are the EEG findings in Dravet Syndrome?
Initially normal, but later shows generalized or multifocal spikes and background slowing.
302
How is Dravet Syndrome diagnosed?
Based on clinical presentation, seizure types, EEG findings, and genetic testing for SCN1A mutation.
303
What are the treatment options for Dravet Syndrome?
Avoid sodium channel blockers; use valproic acid, clobazam, stiripentol, cannabidiol, and fenfluramine. Ketogenic diet may also help.
304
What is the prognosis of Dravet Syndrome?
Chronic, drug-resistant epilepsy with high risk of developmental delay, motor dysfunction, and premature death (including SUDEP).
305
What is Benign Rolandic Epilepsy (BRE)?
Benign Rolandic Epilepsy, also known as self-limited epilepsy with centrotemporal spikes, is a common childhood epilepsy characterized by focal seizures and a favorable prognosis.
306
At what age does Benign Rolandic Epilepsy typically present?
Typically between ages 3 and 13 years, with a peak onset around 7–10 years.
307
What are the typical seizure features in Benign Rolandic Epilepsy?
Seizures often occur during sleep, involve facial twitching, hypersalivation, speech arrest, and may secondarily generalize.
308
What are the EEG findings in Benign Rolandic Epilepsy?
Characteristic centrotemporal spikes, especially activated during sleep.
309
What is the usual duration and frequency of seizures in Benign Rolandic Epilepsy?
Seizures are brief (1–2 minutes), infrequent, and typically occur at night.
310
How is Benign Rolandic Epilepsy diagnosed?
Based on clinical features, EEG findings with centrotemporal spikes, and normal neurological examination.
311
What is the treatment approach for Benign Rolandic Epilepsy?
Often no treatment is needed. If seizures are frequent or disruptive, medications like carbamazepine or levetiracetam may be used.
312
What is the prognosis of Benign Rolandic Epilepsy?
Excellent. Most children outgrow seizures by adolescence without long-term neurological deficits.
313
What is Childhood Absence Epilepsy (CAE)?
A common pediatric epilepsy syndrome characterized by frequent absence seizures (brief staring spells), typically with onset between ages 4 and 10.
314
What are the clinical features of absence seizures in CAE?
Sudden brief lapses in consciousness (staring), lasting 5–15 seconds, with no postictal confusion. May occur dozens to hundreds of times per day.
315
What triggers absence seizures in Childhood Absence Epilepsy?
Often triggered by hyperventilation or fatigue.
316
What are the EEG findings in Childhood Absence Epilepsy?
Classic generalized 3 Hz spike-and-wave discharges during seizures and sometimes between them.
317
How is Childhood Absence Epilepsy diagnosed?
Based on clinical history and EEG showing 3 Hz spike-and-wave pattern. Hyperventilation during EEG often provokes typical seizure.
318
What is the first-line treatment for Childhood Absence Epilepsy?
Ethosuximide is first-line. Valproic acid is also effective, especially if other seizure types are present. Lamotrigine is a second-line option.
319
What is the prognosis of Childhood Absence Epilepsy?
Generally excellent. Most children remit by adolescence with normal cognition if seizures are well controlled.
320
Which drugs should be avoided in Childhood Absence Epilepsy?
Carbamazepine and phenytoin should be avoided as they may worsen absence seizures.
321
What is Landau-Kleffner Syndrome?
A rare childhood epileptic encephalopathy characterized by acquired aphasia (loss of language skills) and abnormal EEG with epileptiform activity, especially during sleep.
322
What is the typical age of onset for Landau-Kleffner Syndrome?
Usually between 3 and 7 years of age.
323
What are the key clinical features of Landau-Kleffner Syndrome?
Sudden or gradual loss of language comprehension and expression (aphasia), seizures (often infrequent), and behavioral problems.
324
What type of aphasia is seen in Landau-Kleffner Syndrome?
Acquired mixed receptive-expressive aphasia (verbal auditory agnosia).
325
What are the EEG findings in Landau-Kleffner Syndrome?
Bilateral epileptiform discharges, especially during non-REM sleep (Electrical Status Epilepticus in Sleep – ESES pattern).
326
How is Landau-Kleffner Syndrome diagnosed?
Based on clinical signs of acquired aphasia and EEG showing epileptiform discharges during sleep. MRI is typically normal.
327
What are the treatment options for Landau-Kleffner Syndrome?
Corticosteroids, benzodiazepines (e.g., diazepam, clobazam), anti-seizure medications, and sometimes epilepsy surgery or vagus nerve stimulation.
328
What is the prognosis of Landau-Kleffner Syndrome?
Variable; some children recover language skills, especially with early treatment, but others may have lasting language and cognitive impairments.
329
In which pediatric epilepsy syndromes should sodium channel blockers be avoided, and why?
Sodium channel blockers (e.g., carbamazepine, oxcarbazepine, phenytoin, lamotrigine at high doses) should be avoided in:
**1. Dravet Syndrome**
- Due to SCN1A gene mutation affecting sodium channels
- These drugs worsen seizures and may trigger status epilepticus
**2. Childhood Absence Epilepsy**
- Carbamazepine and phenytoin can exacerbate absence seizures
**3. Lennox-Gastaut Syndrome (with caution)**
- Sodium channel blockers may sometimes worsen atypical absence or atonic seizures
