Neurology 2

Question 1

Causes of funny turns:

Answer 1

Breath holding attacks
(toddler while crying)

Reflex anoxic seizures (infants or toddlers - triggered by pain)

Benign neonatal sleep myoclonus (single/repetitive episodes of jerking of arms/legs, typically when falling asleep)

Daydreaming - can look similar to absence seizure

Syncope - may faint from hot environments, prolonged standing (>7 months): there may be aura, loss of vision, tingling or auditory phenomenon and myoclonic jerks

Migraine - headaches with unsteadiness or light-headedness

Benign paroxysmal vertigo (usually due to viral labyrinthitis - vertigo lasting several minutes)

Cardiac causes - prolonged QT syndrome, cardiomyopathy

Question 2

Recognize the history in a child of blue breath holding spells (expiratory apnoea syncope)

Answer 2

Breath holding attacks occur in upset toddlers when they cry and go blue.
Can stop breathing for up to 1 min

Sometimes they will briefly lose consciousness, but will rapidly recover fully

Age 6 months to 6 years (commonest 1-3 yrs).
Some have one spell a year, others several a day.

They are not serious and should not cause any damage.

Question 3

Classify breath holding spells

Answer 3

Cyanotic: in response to anger/frustration. Child’s skin turns red or blue

Pallid - pale appearance in response to fear, pain or injury, especially after head trauma

Question 4

Symptoms of a cyanotic spell

Answer 4

Short burst of rigorous crying lasting less than 30 seconds.
Hyperventilation
Pause in breathing after exhaling

Red or blue skin/lips

Seizures may occur

Question 5

How do reflex anoxic seizures occur (reflex asystolic syncope)

Answer 5

Infants or toddlers

There may be a 1st degree relative with history of faints.

Trigger - pain or discomfort. (minor head trauma, cold food, frights or fever)

Child becomes very pale and falls to floor.
Hypoxia may induce generalised tonic-clonic seizures

Cause - cardiac asystole from vagal inhibition (brief seizures with rapid recovery)

Question 6

What is ataxia

Answer 6

abnormality in gait that is wide-based, staggering, unsteady, intention tremro and

dysmetria:
incoordination of movement, speech and posture due to either cerebellar (more common in children) or posterior pathway problem

Question 7

causes of cerebellar ataxia

Answer 7

Medication and drugs
Varicella infection
Vascular disorders
Inborn errors of metabolism
Poisoning
Brainstem encephalitis
Post-infectious or autoimmune
Trauma
Congenital malformation
Posterior fossa lesions or tumours
Genetic and degenerative disorders (ataxic CP)
Friedrich's ataxia
ataxia telangiectasia

Question 8

What is Friedrich’s ataxia

Answer 8

Autosomal recessive condition
Worsening ataxia
Distal wasting in legs
Absent lower limb reflexes
Extensor plantar response because of pyramidal involvement
Pes cavus (high arch)
Dysarthria 

(impairment of joint position and vibration sense)
There is often optic atrophy

Kyphoscoliosis and cardiomyopathy can cause cardiorespiratory compromise and death at 40-50 years

Question 9

What is ataxia telangiectasia

Answer 9

Autosomal recessive
Disorder of DNA repair

Mild motor delay in infancy
Occulomotor problems
Incoordination and delay in ocular pursuit of objects
Difficulty with balance and coordination (apparent at school age)
Subsequent deterioration with a mixture of dystonia and cerebellar signs - may require wheelchair

Question 10

Clinical features of ataxia telangiectasia (examinations)

Answer 10

Speech:
increased separation of variables and varied volumes

Neurology - sensory disturbances in proprioception
Positive Romberg
Nystagmus with eye movements

Systemic - immunodeficiency, hypertrophic cardiomyopathy

Question 11

Investigations in ataxia telangiectasia

Answer 11

Cerebral imaging for tumours and damage

Lumbar puncture - for plasma and CSF analysis (varicella, strep and other infections)

Inborn errors of metabolism (eg. urea cycle disroders)

Question 12

Commonest types of brain tumours?

Answer 12

Commonly solid tumours

40% astrocytoma (benign to highly malignant - usually in cortex)

20% Medulloblastoma (arises in midline of posterior fossa - up to 20% have metastases at diagnosis - through CSF)

8% ependymoma (mostly in posterior fossa)

Craniopharyngioma (4%) - developmental tumour arising from remnant of Rathke pouch (not malignant but locally invasive and grows slowly in midline)

Question 13

Signs and symptoms of brain tumours

Answer 13

Often related to raised ICP:
Headache (worse in morning)
Vomiting (esp on waking)
Visual disturbance
Papilloedema

And possibly Focal neurological signs

Signs of raised ICP in an infant:

• vomiting
• head tilt
• posturing
• developmental delay/regression

Tense fontanelle/separation of sutures

Question 14

Symptoms and signs of spinal tumours

Answer 14

Back pain
peripheral weakness of arms/legs
Bladder or bowel dysfunction

Question 15

Typical presentation of a supratentiorial - cortex brain tumour (astrocytoma)

Answer 15

Seizures
Hemiplegia
Focal neurological signs

eg. aggressive behavior at school, headaches, seizures

Question 16

Typical presentation of a midline brain tumour (craniopharyngioma)

Answer 16

Visual field loss (bitemporal hemianopia)

Pituitary failure - growth failure, diabetes insipidus, weight gain

Question 17

Cerebellar tumour and IVth ventricle.. presentation

Answer 17

Truncal ataxia
Coordination difficulties
Abnormal eye movement

eg. new-onset convergent squint

Medulloblastoma

Question 18

Presentation of brainstem tumours

Answer 18

Cranial nerve defects
Pyramidal tract signs
Cerebellar signs
Often no raised ICP

eg. refuses to walk, unable to climb stairs, squint, facial asymmetry and drooling

Brainstem glioma

Question 19

What is developmental regression

Answer 19

Child loses skill that they have previously acquired

Question 20

Features of Batten’s disease

Answer 20

Autosomal recessive
Fatal
Neurodegenerative, causing developmental regression.

Symptoms 4-10yrs
Gradual onset visual problems and seizures.
Progress to change in behavior, speech and regression in learning

Slow growth?
Breath holding attacks?
Eventually dementia and death

Question 21

What is Rett’s syndrome

Answer 21

Pervasive neurodevelopmental disorder
Almost exclusively girls, after 1y/o

Developmental regression
Loss of purposeful hand movements
eg. Inability to speak

May develop:
seizures
scoliosis
erratic breathing
episodes of breath holding
Hyperventilation

Stereotypic hand-wringing

Question 22

What are leukodystrophies

Answer 22

Group of conditions characterized by dysfunction of the white matter of the brain (incorrect growth of myelin sheath)

Symptoms include gradual decline in an infnat/child who was previously doing well:

Progressive loss of movement, speech, vision, hearing and behavior

Question 23

What is Wilson’s diesase

Answer 23

Autosomal recessive disorder
Reduced synthesis of copper binding protein and defective excretion in bile (accumulation in liver, brain, kidney, cornea):

Fatal if not treated when symptomatic

present:
>3y/o
Liver disease (hepatitis, cirrhosis, portal HTN)

Neuropsychiatric symtpoms usually after 2nd decade:
deterioration in school performance, mood, behavior and coordination

Question 24

What is subacute sclerosis panencephalitis (SSPE)

Answer 24

Rare, chronic encephalitis

Persistent infection of immune resistant measles virus

Primary infection between 2yrs and then 6-16 asymptomatic years before gradual psychoneurological deterioration