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Flashcards in Paediatric Neurology Deck (67):
1

Inheritance pattern of Duchenne Muscular Dystrophy

X-linked

2

At what age do symptoms of Duchenne muscular dystrophy typically develop

1-3 years

3

Prognosis of Duchenne muscular dystrophy

May experience some improvement 3-6y
Gradual relentless deterioration
Usually wheelchair bound by 8-12y
Most die in late teens/twenties with pulmonary complications

4

Cause of disease in Duchenne muscular dystrophy

Defect in the dystrophin gene leading to total deficiency of the dystrophin protein (involved in myocyte cytoskeleton formation)
Leads to deterioration and break down of muscle

5

Signs of Duchenne muscular dystrophy

Delayed walking (first steps typically at 18m)
Frequent falls
Difficulty climbing stairs, running, jumping
Muscle weakness (proximal before distal)
Waddling gait
Toe-walking + protruded abdomen + lordosis
Calf pseudohypertrophy
Gower's sign
Normal sensation
Hyporeflexia or areflexia

6

What is Gower's sign

Children with DMD while on floor using hands to "walk up" legs until standing again

7

Diagnosis of DMD

CK levels 50-100 times higher than normal
DNA studies
+/- electromyography
+/- muscle biopsy (no dystrophin)

8

Treatment of Duchenne muscular dystrophy

Glucocorticoids after 5y
Symptom management:
- Immunisations (incl. annual fluvax)
- Cardiac surveillance
- Pulmonary function

9

Definition of Cerebral palsy

a group of non-progressive clinical syndromes that are characterised by motor and postural dysfunction due to abnormalities of the developing brain resulting from a variety of causes

10

Prevalence of cerebral palsy

2 per 1000

11

Risk factors for cerebral palsy

Prematurity
Low birth weight
Heavy maternal alcohol consumption
Maternal smoking
Infections during pregnancy

12

Potential causes of cerebral palsy

Prematurity
Intrauterine growth restriction
Intrauterine infection
Antepartum haemorrhage
Severe placental pathology
Multiple pregnancy

13

Classifications of cerebral palsy

Spastic (70%)
Dyskinetic (10-15%_
Dystonic, Athetosis, Chorea
Ataxic (

14

Early signs of Cerebral palsy

Poor feeding in neonatal period
Irritability, poor sleep, difficult to handle/cuddle
Frequent vomiting
Persistent primitive reflexes
Abnormal tone (increased, decreased or normal) may cause signs such as persistent asymmetric fisting, tongue retraction and thrust, tonic bite etc.
Poor head control
Delayed motor development

15

Signs of spastic type cerebral palsy

Hypertonia
Clonus
Hyperreflexia
Extensor plantar responses
Impaired fine motor movement
Difficulty in isolating individual movements
Slow effortful voluntary movements
Contractures often develop
Signs may be isolated to legs only, or to only one side of the body

16

Signs of dyskinetic type cerebral palsy

More than one form of involuntary movement
Variable dysarthria, motor and intellectual disability
Chorea (rapid irregular contractions)
Athetosis (slow, smooth, writhing movements of distal muscles)
Persistence of primitive muscles
Dystonia

17

Signs of ataxic type cerebral palsy

Motor and language milestones delayed
Ataxia usually improves with time
Speech is typically slow, jerky and explosive

18

Diagnosis of cerebral palsy

Clinical diagnosis made in the first 2 years of life based on a combination of the following key features:
- abnormal motor development and posture
- motor impairment is permanent and non-progressive
- motor impairment is attributed to an insult that occurred in the developing foetal or infant brain
- motor impairment results in limitations in functional abilities and activity
- motor impairment is often accompanied by secondary musculoskeletal problems, epilepsy, and/or disturbances of sensation, perception, cognition, communication and behaviour

19

Differences in presentation of paediatric migraines v adult

Often bilateral
Photophobia and phonophobia often do not develop until 12y
Abdominal migraine type (recurrent abdominal pain with no identifiable cause)

20

Management of acute migraine in child

NSAIDs or paracetamol

21

Preventative medications most recommended for paediatric migraines

Topiramate

Amitriptyline
Propanolol
Antiserotonergics (cyproheptadine)

22

Lifestyle modifications to reduce paediatric migraine frequency

Hydration
Sleep hygiene
Exercise
Meals TDS (avoid hunger)

23

Presentation of breath holding attacks

More common in preschool children (peak at 2y)
Often after child upset after being scolded
Sometimes follows minor injury or fall
Child screams, after period of forced expiration becomes apnoeic and loses consciousness
Child returns to normal after few seconds

May precipitate in generalised tonic clonic jerking or opisthotonus

24

Definition of opisthotonus

Spasm of muscles causing backward arching of the head, neck and spine

25

Management of breath holding attacks

No treatment required

Reassure parents

26

CSF findings in cryptococcal meningitis

Reduced glucose
Predominantly lymphocytic picture

27

CSF findings in tuberculous meningitis

EARLY DISEASE:
reduced glucose with predominant polymorphonuclear cells

LATE DISEASE:
Reduced glucose with predominant lymphocytes

28

Result of radial nerve injury

Wrist drop
Sensory loss of the anatomical snuffbox and first dorsal webspace

29

Result of median nerve injury

Loss of sensation over the thumb, index middle and lateral half of the ring finger

30

Result of ulnar nerve injury

Claw hand deformity and loss of sensation over medial half of the ring finger and little finger

31

Causes of seizures based on age of onset

First 1-2 years:
- febrile convulsions
- birth asphyxia
- Congenital abnormalities
School Age
- Idiopathic
- ?Genetic
Adults:
- Tumours
- stroke
- Injury

32

Definition of neonatal seizure

Paroxysmal EEG activity often with motor manifestations including effects on respiration, heart rate and blood pressure occurring in first 28 days of life

33

Incidence of neonatal seizures

2-4/1000 live term births
10-130/1000 live preterm births

34

Causes of neonatal seizures

Hypoxic-ischaemic encephalopathy (HIE)
- most common cause in term infants (40-60%)
- present within first 24 hours
- most common cause for babies with poor long term prognosis
INTRACRANIAL HAEMORRHAGE
(intraventricular, intracerevral, subdural, subarachnoid)
CNS INFECTION
- meningitis (viral or bacterial)
- Encephalitis
- Intrauterine TORCH infections
- Most commonly GBS, E coli, listeria, staph
PERINATAL STROKE
METABOLIC (BGL, Ca, Mg, Na, pyridoxine)
DRUG WITHDRAWAL
CONGENITAL (chromosomal, congenital brain anomalies, neuro-degenerative)
BENIGN IDIOPATHIC NEONATAL CONVULSIONS
- multifocal clonic seizures day 5, cease within 15 days
BENIGN FAMILIAL NEONATAL CONVULSIONS
- tonic or clonic seizures on day 2-3, cease after few weeks, good prognosis

35

Differentiating neonatal seizure from jitteriness

Jitteriness: provoked by stimulus, predominanly rapid, oscillatory movements/tremor. Movements cease when limb is held. Conscious state awake or asleep, not altered during episode. No eye deviation
Seizure: not provoked by stimulus, clonic/tonic movements which do not cease when limb is held. Altered conscious state, eye deviation

36

Clinical classifications of neonatal seizures

CLONIC (50%): more common in term babies, focal may suggest underlying focal neuropathy
TONIC (20%): more common in preterm babies, typically extension of limbs with opisthotonic posturing
SUBTLE (10-25%): Eyes (staring/blinking/deviation), Oral (lip smacking, mouthing, chewing, sucking, tongue thrusting) Limb (boxing, swimming, pedalling) Autonomic (apnoea, tachycardia, unstable BP) More common in term babies, occur in babies with severe global insult (e.g. IV haemorrhage)
MYOCLONIC (5%): seeing in drug withdrawal, esp opiates. Rapid isolated jerks

37

Investigations to perform in neonatal seizures

BGL
Serum electrolytes, INCLUDING CALCIUM AND MAGNESIUM
Serum ammonia
CBE
Blood cultures
ABG
Serum amino acids
Urine amino acids and organic acids
Thrombophilia screen (if has suffered a stroke)
Lumbar puncture
Cranial USS
EEG

38

Anticonvulsant therapy in neonatal seizures

Should be considered to treat seizures AFTER cause specific treatment when:
- prolonged (more than 2-3 minutes)
- Frequent (more than 2-3 per hour)
- disruption of ventilation and/or BP
Administer IV for rapid onset
Most commonly used:
- phenobarbitone, phenytoin, midazolam, Clonazepam, lignocaine

39

Definition of febrile convulsions

Convulsions in a child between 6m and 6y of age, in the setting of an acute febrile illness without previous afebrile seizures, significant prior neurological abnormality, and no CNS infection

40

Simple v complex febrile convulsions

Simple: generalised lasting less than 5 minutes and not recurring during a 14 hour period
Complex: focal, prolonged more than 5 minutes or multiple within the first 24 hours

41

Recurrence of febrile convulsions

recur in 1/3 of children during early childhood
Risk of future epilepsy only slightly higher than general population (1-2% overall risk)
Higher risk of recurrence or afebrile convulsions if experience complex febrile convulsions

42

Peak incidence of febrile convulsions

12-18m

43

Risk factors for febrile convulsions

Age (12-18m)
High fever
Infection - particularly viral (HHV-6, influenza, parainfluenza, adenovirus)
Immunisation (increased risk after administration of DTP and MMR vaccines)
Genetic susceptibility
Prenatal nicotine exposure
Iron deficiency
Allergic rhinitis

44

Clinical presentation of febrile convulsions

Occur on first day of illness in majority of children
Fever commonly above 39
Most commonly generalised clonic (unless complex - focal onset)
Febrile status epilepticus: continuous seizures or intermittent seizures without neurologic recovery lasting for over 30 minutes

45

Clinical diagnostic criteria for a febrile convulsion

1. A convulsion associated with temperature greater than 38
2. Child older than 3m and younger than 6y
3. Absence of CNS infection or inflammation
4. Absence of acute systemic metabolic abnormality that may produce convulsions
5. No history of afebrile seizures

46

Management of febrile convulsions

Emergency rescue therapy (if continuing for more than 5 minutes)
- Midazolam buccally or intranasally
OR
- diazepam rectally
OR
- Lorazepam IV, oral or IM
For ongoing seizures: phenytoin or phenobarbitone
Admission to hospital not usually required

47

Risk factors for recurrence of febrile convulsiosn

Overall recurrence rate 30%
Age at first seizure less than 1y (50-65%)
History of febrile seizures in first degree relative
Low degree of fever while in the emergency department
Brief duration between onset of fever and initial seizure
Abnormal development before the first febrile seizure
Recurrence of seizures within the same illness
Number of subsequent febrile illnesses
Unprovoked seizure after a febrile seizure

48

Primary v secondary epilepsy in childhood

Idiopathic/Primary 60%
Secondary: 40%
Common causes - congenital brain defects, trauma, birth asphyxia, infections (congenital or post natal)
Less common: tumours, metabolic conditions, familial neurodegenerative (e.g. Tay-Sach's), neurocutaneous syndrome (tuberculous sclerosis)

49

Types of generalised seizures

Absence seizures (clusters of 5-10 sec staring, impaired consciousness)
Generalised tonic-clonic
Clonic seizures (rhythmical muscle contractions usually involving arms neck and face)
Myoclonic seizures (sudden brief muscle contractions alone or in clusters, typically of arms, no impaired consciousness)
Tonic seizures (sudden muscle stiffening +/- impaired consciousness and falling to ground)
Atonic seizures (drop seizures - sudden loss of control of muscles esp legs - collapsing to ground)

50

Seizure syndromes

Benign familial infantile epilepsy
Infantile spasms/West's syndrome
Myoclonic epilepsy of infancy
Lennox-Gastaut Syndrome
Landau-Kleffner Syndrome
Benign Rolandic Epilepsy
Juvenile myoclonic epilepsy
Rasmussen's syndrome
Frontal lobe epilepsy
Temporal lobe epilepsy
Reflex epilepsies

51

Benign familial infantile epilepsy

Autosomal dominant epilepsy syndrome
Afebrile seizures in otherwise normal infant
Begins 6m, lessens by 3y

52

Infantile spasms/West's syndrome presentation

Sudden jerk followed by stiffening (jack-knife seizures) - arms flung out as knees are pulled up and body bends forward
Last 1-2 sec
Occur in a series
Occur most commonly just after waking
Begin at 3-12m, stop by 4y

53

Management of West's syndrome/infantile spasms

Steroid therapy and vigabatrin

54

Prognosis of infantile spasms

60% have brain injury before the seizures begin
Most will be developmentally delayed later in life
Many develop other kinds of epilepsy
Associated with primary causes e.g. tuberous sclerosis, PKU

55

Myoclonic epilesy of infancy

Myoclonic seizures beginning in 1st year of life
Can be accompanied by other seizure types
Benign or severe (psychomotor retardation, speech delay, ataxia)
Severe form = Dravet syndrome - mortality in early life 10%

56

Lennox-Gastaut syndrome

Epilepsy syndrome onset 3-7y old
Multiple seizure types (tonic and atonic mainly)
Mental retardation and other neurological abnormalities, psychotic symptoms common, neurodevelopment often normal before first seizure
Intellectual and behavioural abnormalities
CBZ can precipitate attacks

57

Management of Lennox Gastaut syndrome

Seizures are difficult to control and need life-long treatment
Valproate, lamotrigine, topiramate etc. may be useful

58

Landau-Kleffner Syndrome

Deterioration of higher cortical functioning (language) on basis of frequent epileptiform activity
Develop normally until 3-6y
Present initially with auditory verbal agnosia (child behaves as if deaf)
Acquired expressive aphasia
Personality disorders
Seizures typically occur during sleep
EEG abnormalities: bilaterral centerotemporal spikes and sharp waves that spread widely through both hemispheres

59

Benign rolandic epilepsy

Simple partial seizures
Twitching, numbness or tingling of child's face or tongue
last less than 2 minutes
15% of all chilhood epilepsies
begins 6-8y
Usually occur at night, may be infrequent
Many children do not need medications
Usually self-limiting by 15y

60

Juvenile myoclonic epilepsy

Healthy young teenager
1. myoclonic jerks
2. absence seizures often precede other types of seizures OR
3. generalised tonic-clonic seizures (tendency to occur upon awakening)

61

Differentials for seizures

Shuddering attacks
Breath-holding spells
Self-gratification behaviour
Cardiogenic syncope
GORD (change in posture, colour etc.)
Migraine auras
Sleep disorders

62

Spina bifida definition

AKA myelomeningocele:
The most common neural tube defect and the most severe birth defect that is compatible with live, characterised by a cleft in the vertebral column with a corresponding defect in the skin so that the meninges and spinal cord are exposed

63

Incidence of spina bifida

3/10,000 live births

64

Risk factors for spina bifida

Folic acid deficiency
Administration of folic acid antagonists during pregnancy (CBZ, phenytoin, valproate, trimethoprim, MTX)

65

Prenatal diagnosis of spina bifida

Increased serum maternal AFP
Diagnosis confirmed by USS
- less than 12w GA - irregularities of bony spine/bulging within posterior contour of foetal back
- greater than 12w GA Lemon sign (concave shape of frontal calvarium) or banana signs (posterior convexity of cerebellum)

66

Post-natal diagnosis of spinabifida

Neural plate visible (raw, red, fleshy plaque seen through a defect in the vertebral column and the skin)
Membranous sac protruding through defect containing meninges CSF and nerve roots

67

Management of spina bifida

If diagnosed prenatally: delivery at tertiary hospital, serial USS and deliver early if indication of rapidly increasing ventriculomegaly

Management of neonate:
Cover defect with sterile saline-soaked dressing, +/- plastic wrap if large
Prone or lateral position to avoid pressure on lesion
Thorough neurological exam (findings often improve in first 72h, aim to define baseline)
Assess for other congenital anomalies
Prophylactic broad spectrum ABx until the back is closed
Surgical closure within first 72 hours - monitor for hydrocephalus