Paediatric Neurology Flashcards
1
Q
Features of Neurological Disorders in Children
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Recurrent Headaches Febrile Seizures Epilepsy Motor Disorders Neural Tube Defects
2
Q
Moro Reflex
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Sudden Head Extension causes Symmetrical Extension and Flexion of arms
3
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Grasp Reflex
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Flexion of fingers when object placed into palm
4
Q
Rooting Reflex
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Head turns to stimulus when touched near mouth
5
Q
Sucking Reflex
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Automatic feeding action
6
Q
Stepping Response
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When held vertically and Foot Dorsum on surface
7
Q
Asymmetric Tonic Neck
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When lying Supine, Outstretched arm to side where head is turned
8
Q
Postural Reflexes (Essential for Independent Sitting and Walking)
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Labyrinthine Righting – Head moves in opposite direction to Body Tilt
• Postural Support – When held upright, Legs take weight and may push
• Lateral Propping – When sitting, Arm extends as saving mechanism when falling
• Parachute – When suspended Face Down, Arms extend as saving mechanism
9
Q
Aetiology of Seizures in paediatric patients
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Epileptic, Syncopal (=Anoxic), Brainstem (E.g. Hydrocephalic, Coning), Emotional or Functional (=Psychogenic Pseudoseizures)
10
Q
What is epilepsy
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– Excessive, Hypersynchronous electrical activity; Brain Disorder that predisposes patients to have unprovoked Epileptic Seizures
o Generally, diagnosis requires two or more unproved Epileptic seizures
11
Q
Types of convulsions
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A Seizure with Motor Components – Stiff (Tonic), Massive Jerk (Myoclonic), Jerking (Clonic), Trembling (Vibratory), Thrashing (Hypermotor)
12
Q
Non convulsive seizure
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Motor Arrest in the form of Unresponsive Stare (Absence) or Drop Attack (Atonic)
13
Q
What is convulsive status epilepticus
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Continuous Seizure, or Intermittent lasting more than 30 mins without full recovery of consciousness between
o Important to terminate as risk of worse outcome, treatment resistance
14
Q
Management of Acute Seizure
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0 mins – Secure airway, high-flow oxygen, check blood glucose
• 5 mins (Step 1) – If vascular access available, Lorazepam IV/IO; otherwise Midazolam buccal or Diazepam rectal
• 15 mins (Step 2) – Lorazepam IV/IO, call for Senior Help
o Prepare Phenytoin, and Reconfirm if Epileptic Seizure
• 25 mins (Step 3) – Anaesthesia, ICU advice; Phenytoin IV/IO over 20 mins, or Phenobarbitone IV/IO over 5 minutes
• 45 mins (Step 4) – Rapid Sequence Induction with Thiopental
15
Q
Febrile Seizure
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Epileptic seizure accompanied by fever in absence of intracranial infection;
Genetic predisposition with 10% risk if first-degree relative with febrile seizures
• Often occurs early in viral infection when temperature rapidly rises; Typically, brief generalised tonic-clonic seizures
More likely in younger children, shorter onset, seizures that occur at lower temperatures and family history
16
Q
Simple Febrile Seizure
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do not cause brain damage – No intellectual consequences
o 1-2% chance of subsequently developing Epilepsy; similar risk for all children
17
Q
Complex Febrile Seizure
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Focal, Prolonged or Recurrent within same illness
o 4-12% chance of subsequent Epilepsy
18
Q
Management of Febrile Seizure
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Identify cause of fever – Typically viral illness but need TRO Bacterial Infections esp Meningitis
o Neck Stiffness and Photophobia might not be as apparent in young children
o Blood Cultures, Urine Cultures, LP and CSF sample
o If child unconscious, or unstable, LP is contraindicated; Abx immediately
• Reassurance and Information; Antipyretics have not been shown to prevent febrile seizures
o If history of prolonged seizures (>5min), Buccal midazolam rescue can be provided
o Oral Anti-Epilepsy prophylaxis not used – Do not reduce recurrence rate, and high SE
o EEG unhelpful, does not predict seizure recurrence
19
Q
Non Epileptic Seizures Causes
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- Metabolic disturbance e.g. hypoglycaemia, hypo/hypernatraemia, hypocalcaemia and hypomagnesaemia
- Head trauma
- Infection e.g. meningitis, encephalitis
- Poisons and toxins
20
Q
Blue Breath Holding Spell
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Upset toddler; Holds breath in expiration and becomes cyanotic; Brief loss of consciousness and rapid recovery
21
Q
Reflex Anoxic Seizures
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Infants or Toddlers; Often with first-degree family history; Commonest triggers are pain/discomfort (esp Head Trauma), Cold food, Fright or Fever; Child becomes pale and falls to floor
o Due to Cardiac Asystole from Vagal activation
o Hypoxia may induce Tonic-clonic seizure; Brief, Rapid recovery
o Ocular compression leads to asystole and paroxysmal slow-wave discharge on EEG
22
Q
Syncope
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Hot/Stuffy environment, standing for long periods, Fear; Clonic movement lasting few seconds are common
23
Q
Generalised Onset Seizures
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Discharge arises from both hemispheres
o Includes Absence, Myoclonic, Tonic, Tonic-Clonic, Atonic; Combination or Sequential
24
Q
Focal Onset Seizures
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Arises from one or part of one hemisphere; LOC may be retained, lost or evolve into secondary GTCS
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Frontal Lobe Seizures
Motor or Premotor Cortex; Clonic movements which may travel proximally (Jacksonian march) or Tonic seizure (e.g. both upper limbs raised high for several seconds)
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Temporal Lobe Seizures
Strange warning feelings, or Aura with Smell/Taste abnormalities, Distortion of Sound and Shape etc
▪ Automatisms – Lip-smacking, Plucking, Walking in Non-purposeful manner; due to spread to Pre-motor Cortex
▪ Consciousness can be impaired, usually longer than absence seizures
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Occipital Lobe Seizures
Stereotyped Visual Hallucinations
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Parietal Lobe Seizures
Contralateral dysaesthesia or distorted body image
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Describing seizures
Focal (Awareness/Impaired, Motor/Non-motor, Focal to Bilateral Tonic-Clonic), Generalised (Motor or Non-motor), or Unknown (Motor or Non-motor)
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Infantile Spasms (West Syndrome)
3-12 months
Violent flexion of head, trunk and limbs followed by arm extension lasting 1-2s multiple bursts, often on waking
o EEG shows Hypsarrhythmia (Irregular and Chaotic); Managed with Vigabatrin (increases GABA) ± Steroids, relapses common
31
Childhood Absence Epilepsy
4-12yrs; Unresponsive stare and Motor arrest; lasts only a few seconds; No awareness; 2% of childhood epilepsy
o Can be induced by hyperventilation; EEG fast spike-and-wave (3-4Hz)
o Good prognosis with 80% remission in adolescence; Can evolve into JAE and JME
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Panayiotopoulos Syndrome
1-5yrs; Autonomic Features, Vomiting, Unresponsive staring in sleep, can progress to Convulsions
o 5% of childhood epilepsy; EEG posterior Focal Sharp Waves and Occipital Discharges when eyes are shut
33
Benign Rolandic Epilepsy
4-10yrs; TCS in sleep, or Focal Seizures with awareness of abnormal tongue and face sensation
o 15% of childhood epilepsy; Focal sharp waves in Rolandic Area
o Remits in adolescence; Benign, does not require medication
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Juvenile Absence Epilepsy
Absence, GTCS often with Photosensitivity
| o Remission is unlikely; Responds well to treatment
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Juvenile Myoclonic Epilepsy
Myoclonic Seizures, GTCS, Absences which typically occur shortly after waking
o Remission is unlikely; Responds well to treatment
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Diagnosis of Epilepsy: History and Examination
Detailed history from child and eye-witnesses; Ideal if video is available
o Identify specific triggers, impairments, educational, psychological or social problems
• Examine for Neuro-Cutaneous syndromes or other neurological abnormalities
• Epilepsy is typically idiopathic, but can have underlying neurology
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Diagnosis of Epilepsy: Investigations
ECG – TRO underlying arrhythmia e.g. Long QT syndrome
• Inter-ictal EEG – Categorises Epilepsy type and Severity; If normal, Sleep/Sleep-deprived record can be helpful; Other ambulatory techniques available
• Imaging – MRI and CT are routine unless characteristic history = not required
o FLAIR MRI better for detecting Mesial Temporal Sclerosis in Temporal Lobe Epilepsy
• Functional Imaging – PET, SPECT to detect areas of hypometabolism when interictal
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Management of Epilepsy
Decision to treat depends on Risk of Recurrence, Danger/Impairment, Patient preference
o E.g. Common not to treat Rolandic Epilepsy
o Not all children require AED therapy; Based on Seizure Type, Epilepsy Type, Frequency, Social and Educational consequences
o Drug choice based on type of Seizure and Epilepsy
o Monotherapy at Minimum Dose (Dose to prevent seizures without SE)
o Drug monitoring not routine, but useful to check concordance, or to consider increasing AED dose
• Ketogenic (Low carb, fat based) diets useful for some
• Vagal Nerve Stimulation, Epilepsy Surgery etc for a specific few patients
• Advice – Education and liaison with school, avoiding dangerous situations, Driving (only after 1yr Seizure-free), Alcohol, Sleep, Concordance
Children with prolonged Epileptic Seizures (>5 mins loss of consciousness) receive Rescue
• AED therapy can be discontinued after 2yr seizure free
o Usually continued indefinitely in young people with JAE or JME
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First Line Treatment: GTCS
Valporate, Carbamazepine, Lamotrigine
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Second Line Treatment: GTCS
Clobazam, Levetiracetam, Topiramate
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First Line Treatment: Generalised Absence
Valporate, Ethosuximide, Lamotrigine
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Second Line Treatment: Generalised Absence
Clobazam, Levetiracetam, Topiramate
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First Line Treatment: Generalised Myoclonic
Valporate, Levetiracetam, Topiramate
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Second Line Treatment: Generalised Myoclonic
Clobazam, Piracetam
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First Line Treatment: Focal
Carbamazepine, Valporate, Levetiracetam, Lamotrigine
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Second Line Treatment: Focal
Clobazam, Topiramate, Gabapentin, Tiagabine
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When should carbamazepine, gabapentin and tiagbine be avoided?
Absence, Myoclonic Seizures and JME
48
Side Effects of Valproate
Weight gain, Hair loss, Teratogenic, Rare Idiosyncratic Liver Failure
49
Side Effects of Carbamazepine
Rash, Hyponatraemia, Ataxia, Liver Enzyme Induction, Interference with other medications including Oral Contraception
50
Cerebral Palsy
Most common Motor Impairment in children
umbrella term for permanent disorder of Movement and/or Posture and of Motor Function due to Non-Progressive Abnormality of the Developing Brain
o Often accompanied by disturbances of Cognition, Communication, Vision, Perception, Sensation, Behaviour, Seizure disorder and secondary MSK issues
o Despite static nature of neurological lesion, clinical manifestations emerge over time
o Motor dysfunction – Evident early, often from birth
• If Brain Injury occurs after 2yrs age, it is diagnosed as Acquired Brain Injury
51
Aetiology of Cerebral Palsy
80% Antenatal due to Vascular Haemorrhage or Ischaemia, Cortical Migration disorders, or Structural Brain Maldevelopment during gestation; other causes include Genetic disease or Congenital Infections
• 10% thought to be due to HIE before/during delivery; 10% postnatal
52
Post natal causes of Cerebral Palsy
Meningitis/Encephalitis/Encephalopathy, Trauma, Symptomatic Hypoglycaemia, Hydrocephalus, Kernicterus
53
Presentations of Cerebral Palsy
Many are identified as being at risk in Neonatal period; Early signs of Cerebral Palsy:
o Abnormal Limb/Trunk Posturing/Tone; Delayed Motor, Slowing head growth
o Feeding difficulties with oromotor incoordination, Slow feeding, Gagging, Vomiting
o Abnormal gait once walking achieved, Asymmetric hand function
o Primitive reflexes might persist and become obligatory
54
categorisation of Cerebral Palsy
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Cerebral Palsy is categorised according to neurological features; graded by gross motor function (functional ability) by GMFCS
o Spastic (90%) – Bilateral, Unilateral or NOS
o Dyskinetic (6%), Ataxic (4%) and other
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Spastic Cerebral Palsy
Damage to UMN pathways – Limb tone is persistently increased (Spastic) with associated brisk deep tendon reflexes, and extensor plantar responses
o Dynamic catch, Clasp knife spasticity response; Spasticity presents early
56
Unilateral Spastic CP
Arm usually more than leg; Face spared; Affected typically present within first yr of life with abnormal movements and tone
o Toe-heel gait on affected side becomes evident; Affected limbs initially flaccid and hypotonic but then tone increases
o Medical and Birth history might be normal, which can point to silent prenatal cause
o In severe vascular insults, Hemianopia might occur on same side as affected limbs
57
Bilateral Spastic CP
All four limbs affected; Trunk involved with a tendency for Extensor Posturing (Opisthotonos), Poor head control, Low central tone
o Associated with Seizures, Microcephaly, Moderate/Severe Intellectual impairment; Might have history of Perinatal HIE
o Bilateral Diplegia – All four limbs affected, but legs are affected far more than arms
▪ Diplegia is associated with preterm birth due to PVH; MRI may show PVLM
58
What is Dyskinetic Cerebral Palsy
Damage to Basal Ganglia and Extrapyramidal pathways
o Historically due to Kernicterus due to Rhesus Disease of the Newborn; Now HIE at term more common cause
o MRI reveals bilateral changes especially in Basal Ganglia
59
Features of Dyskinetic Cerebral Palsy
Involuntary, Uncontrolled, Stereotyped movements; More evident with active movement or stress; Tone is variable, Primitive reflexes dominate
o Chorea – Irregular, sudden, brief non-repetitive movements
o Athetosis – Slow writhing movements occurring more distally
o Dystonia – Simultaneous contraction of Agonist and Antagonist muscles of the trunk and proximal limbs resulting in twisting appearance
• Intellect might be unimpaired; Might present with Floppiness, Poor Trunk Control, Delayed Motor Development in Infancy
60
Ataxic (Hypotonic) Cerebral Palsy
* Most genetically determined, or Acquired brain injury to Cerebellum and networks
* Early Trunk and Limb Hypotonia, Poor Balance, Delayed Motor Development; Poor coordination, Intention Tremor and Ataxic gait in later life
61
Management of Cerebral Palsy
* Difficult to provide prognosis during infancy until Severity and Pattern established
* Often have a wide range of Medical, Psychosocial problems – MDT care
* Management of Hypertonia – Botulinum toxin injections, Selective Dorsal Rhizotomy (Transection of part of nerve roots to reduce spasticity), Intrathecal Baclofen (GABAB agonist =Skeletal Muscle Relaxant) and DBS of the Basal Ganglia
62
Strabismus
Also known as Squint; Misalignment of visual axes; Requires assessment to ensure underlying cause is identified and treated if possible
o Transient misalignment common up till 3/12 age – Refer to Ophthalmology
▪ Most common underlying causes include Refractive Error; Need to exclude Cataracts, Retinoblastoma and Intraocular pathology
o Marked epicanthic folds can give appearance of Squint
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Concomitant Squint
Due to refractive error; Correction of error often corrects squint; Most commonly convergent; but can be divergent or rarely vertical
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Paralytic Squint
Rare; Paralysis of Extraocular muscles; Possibly due to SOL
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How can a squint be detected?
Corneal Light Reflex Test (If reflection does not occur in same position in two pupils) or Cover test (Ask patient to fixate, following by covering one eye; less reliable, need to test multiple distances)
66
Hypermetropia
Most common refractive error in young children; can be overcome through accommodation; Convex lenses not required if mild
67
Myopia
Relatively uncommon in young children, presents typically in Adolescence; Most common error in Preterm children; Concave lenses required
68
Astigmatism
Abnormal corneal curvature; Minor degrees does not cause problems, or require correction; Unilateral Astigmatism can cause Amblyopia
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Amblyopia
Permanent reduction of visual acuity in eye that has not received clear image
o 2 – 3% of children; Most commonly caused by Squint, Refractive Error or Visual Pathway Defect
o In Squint, brain is unable to combine differing images from each eye; Image from squinting eye becomes ‘lazy’
▪ Treatment requires correction of defect, and covering healthy eye to encourage function of squinting eye
▪ Early treatment required; if beyond 7yrs age, improvement unlikely
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How can children with hypotonia and weakness present?
floppiness, delayed motor milestones, weakness, gait abnormality, fatigability, and muscle cramps
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Spinal Muscular Atrophy
autosomal recessive disorder that leads to degeneration of the anterior horn cells of the spinal cord
- Signs of denervation are prominent e.g. weakness, loss of reflexes, fasciculation
- Other signs may include intercostal recession and arthrogryposis at birth
SMA type 1 (Werdnig-Hoffman) is a very severe form, in which death typically occurs by 12 months due to respiratory failure
72
Duchenne Muscular Dystrophy
x-linked recessive disorder, resulting from a deletion of the dystrophin gene (preventing connection between muscle fibres and the extracellular matrix surrounding them)
- Around 1/3 of cases are due to a novel mutation occurring in maternal meiosis
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Presentation of DMD
Affected boys typically present with delayed motor milestones, waddling gait, Gower’s sign, and pseudohypertrophy of calf muscles
- Parents may note that their son has an awkward gait, is unable to run quickly, and has difficulty rising from the floor
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Progression of DMD
The average age of diagnosis is 5.5 years (generally between 3 – 5), but symptoms are often present long before this
- Progressive muscle atrophy leads to loss of ambulation by 10 – 14 years, and death from respiratory failure/ cardiomyopathy by ~20
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Diagnosis of DMD
Diagnosis follows raised serum CK alongside genetic analysis and muscle biopsy (showing replacement of muscle fibres by fat and fibrous tissue)
- Genetic analysis will usually show deletions within the dystrophin gene that alter the reading frame, or point mutations creating stop codons
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Management of DMD
largely symptomatic; including physiotherapy, foot orthoses, CPAP, and corticosteroids
77
Becker's Muscular Dystrophy
milder than Duchenne, with typical presentation in the early teens. Patients can usually walk up to their late twenties, and life expectancy extending into the late forties
o With BMD, the deletion in the dystrophin gene does not usually alter the reading frame of the gene, meaning that subsequent amino acid sequence is preserved
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Primary Headache
Migraine, Tension Type, Cluster (and other Trigeminal Autonomic Cephalalgias) and others (e.g. Stabbing Headache)
o Believed to be due to primary dysfunction of neurones
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Migraine Syndromes in Children
- Familial migraine, due to a dominant mutation of calcium ion channels
- Sporadic hemiplegic migraine
- Basilar-type migraine, this presents with vomiting and nystagmus and/or cerebellar signs
- Abdominal migraine, this presents with episodic midline abdominal pain associated with vasomotor symptoms, nausea and vomiting
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Red Flags for raised ICP in children
- Recurrent school failure
- Fall off in linear growth
- Child <5 with primary complaint of headache
- As for adults
Typically worse on lying down; Characteristically morning vomiting and night waking; Often Mood, Personality or Educational change
o Other suggestive features include Visual Field Defects, CN abnormalities (especially causing Diplopia, new-onset Squint or CN VII palsy
Abnormal gait, Torticollis, Growth Failure, Papilloedema occurs late, Cranial bruits from AVM are rare, Early or Late Puberty
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Management of Headaches: No red flags
In the absence of red-flag symptoms, further investigation is generally not indicated. Children and their parents should be reassured, but warned that recurrent headaches are common
- Where headaches are recurrent in the absence of red-flags, it may be important to explore psychological aspects e.g. bullying, anxiety, stress
triptans as rescue medication and pizotifen as prophylaxis
82
Migraines without Aura
Episodes lasting 1-72hrs; Commonly Bilateral; Classically Pulsatile, over Temporal or Frontal area; Often occupied by GI disturbance (N+V, Abdo pain), Photophobia, Phonophobia
o Aggravated by physical activity, relieved by sleep
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Migraine with Aura
o Premonitory symptoms (Tiredness, Difficulty concentrating, Autonomic features)
o Visual more common – Negative symptoms (e.g. Hemianopia, Scotoma) and Positive symptoms (Fortification Spectra)
o Usually last few hours; children prefer to lie down in quiet, dark places
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Triggers for Migraines in Children
Triggers include disturbances in inherent biorhythms, stress, and rarely certain foods
• In girls, headaches can be related to menstruation and oral contraceptives
85
CN IV Palsy
Squint with Diplopia, inability to abduct eye beyond midline; False localising sign for raised ICP
86
Secondary Causes of Raised ICP
Idiopathic Intracranial HTN, Substance withdrawal, Infections, Hypercapnia, HTN, Acute Sinusitis, Emotional disorders
87
Medication Overuse Headache
Rebound, Chronic daily headache if using acute analgesia or Triptans >2 days per week
o Withdrawal of medication will resolve headaches in about 2/52
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Management of Headaches in General
• Thorough Hx and Examination; Detailed explanation and advice; Imaging if red-flag features for SOL
89
Symptomatic Management of Headaches
o Analgesia – Paracetamol and NSAIDs
o Antiemetics – Prochlorperazine or Cyclizine
o Triptans (5HT Agonists) – E.g. Sumatriptan; Useful together with analgesia
o Cold compress, Warm pads, Forehead balms etc
90
Prophylactic Management of Headaches
Prophylaxis if frequent and intrusive – Sodium channel blockers (AEDs e.g. Topiramate, Valporate), Beta blockers (Propanolol; CI in Asthma), TCAs (e.g. Pizotifen, Amitriptyline)
91
Other Management of Headaches
Psychological support – E.g. Bullying, Anxiety, Family issues
o Relaxation And other self-regulating techniques
92
Hydrocephalus
Hydrocephalus results from interrupted CSF flow, leading to dilation of the ventricular system proximal to the blockage
93
Non communicating/Obstructive
| Hydrocephalus
obstruction is in the ventricular system e.g. aqueduct stenosis
94
Communicating Hydrocephalus
Communicating is where the blockage is due to failure of the arachnoid villi to reabsorb CSF e.g. SAH, meningitis
95
How do children present with hydrocephalus
Infants with hydrocephalus will have disproportionate head growth as their skull sutures have not fused; additional signs can include bulging of the anterior fontanelle, distended scalp veins, and fixed downward gaze (sunsetting of the eyes)
- Older children present with features suggesting raised ICP
96
How is hydrocephalus diagnosed
Diagnosis can be pre-natal with ultrasound screening. In infants presenting after birth, cranial USS/ CT/ MRI are used for diagnosis
97
How is ICP reduced?
It is essential to decrease ICP, largely this is achieved by the insertion of a ventriculoperitoneal shunt
- Complications of this include low-pressure headache, corrected with regulatory valves, and malfunction due to blockage/ infection, corrected with replacement
98
Where else may non-communicating hydrocephalus occur?
myelomeningocele spinal bifida; this is due to the Chiari malformation (in which the cerebellar tonsils and brainstem herniate through the foramen magnum) leading to disrupted CSF flow
- This is managed by closure of the lesion soon after birth
99
Macrocephaly
head circumference >98th centile) does not necessarily indicate hydrocephalus. There are many potential causes
- Tall stature, or familial macrocephaly
- Chronic subdural haematoma
- Raised ICP, including cerebral tumour
- Neurofibromatosis
- Cerebral gigantism (Sotos syndrome)
100
Microcephaly
Microcephaly is head circumference below the 2nd centile. It can be broadly divided into congenital and acquired forms
- Congenital microcephaly includes Down syndrome
- Acquired microcephaly occurs after insult to the developing brain. This includes viral infections (rubella, VZV, zika), parasitic infections (CMV, toxoplasmosis), and alcohol and drug consumption in pregnancy
It may also be familial, and not associated with developmental delay
101
Effects of Microcephaly
- Seizures, developmental delay, movement and balance problems, hearing and visual loss
102
Anecephaly
Anencephaly is a neural tube defect that leads to a failure of development of the cranium and brain
- As this leads to stillbirth, or death shortly after birth, termination of pregnancy is usually performed
