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Flashcards in Paediatric Neurology Deck (67)
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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