SELF-ASSESSMENT

Self-assessment
He was admitted to the ward for neurological observation.
His initial investigations including CT head were normal.
The following day he developed some right-sided shoulder
droop and mum felt that he was more lethargic than before.
He also had an episode of urinary incontinence during
sleep. His lumbar puncture result was unremarkable. Urine
toxicology was negative. The EEG was reported as showing
unilateral encephalopathic changes on the left.
3. What would you do next?
a) Continue observation
b) Reassure and discharge with review plan
c) IV acyclovir and antibiotics
d) MRI head
e) Seek mental health team opinion
His facial palsy resolved after 72 hours. Following review by the Paediatric neurologist, an MRI and MRA of the
Brain were performed (Figures 1 and 2).
4. What is seen in Figures 1 and 2?
a) Extradural haemorrhage
b) Haemorrhage in right internal capsule
c) Aneurysm of right internal carotid artery
d) Left internal carotid artery dissection with resultant
Left Sided Middle Cerebral Artery ischaemic stroke
e) Normal scan
5. What would your treatment be?
a) Transfer to neurosurgical unit
b) Referral for assessment by vascular surgeons
c) Start anticoagulant and follow-up
d) Thrombolysis
e) Conservative treatment with follow-up

Questions
Case 1
A 11-year-old boy presented to A&E with a history of
headache and vomiting following a fall in school. He fell on
a hard floor while playing earlier in the day but denied
hitting his head and there was no loss of consciousness,
although he was later found to be sleepy. On arrival to A&E,
he was complaining of sudden onset frontal headache and
he had vomited 4e5 times. He also had been playing rugby
with a friend 2 days previously. He had developed some
lower back pain, but this had now resolved. There is no
past medical history of note and he was not on any regular
medication. On examination his GCS was 15/15. On
neurological examination there was mild right-sided upper
motor neuron facial weakness, with no other abnormality.
He was apyrexial and all other observations were normal.
Questions
1. What would be your top three differential diagnoses?
a) Intracranial haemorrhage
b) Other space occupying lesions (e.g. tumour)
c) Epilepsy
d) Cerebro vascular accident (stroke)
e) Migraine
f) Behavioural problem
g) Encephalitis
h) Drug toxicity
i) Cardiac arrhythmia
2. What will be your two initial investigations?
a) Blood glucose
b) Blood culture
c) CT head
d) EEG
e) Lumbar puncture
f) Urine for toxicology
g) ECG
h) Echocardiography

Case 2
A 9-year-old girl was referred from the GP to PAU with a
presenting complaint of painful knees. She is a fit and
athletic girl, and was unable to recall any recent injury to
her legs. There was no nocturnal knee pain. She was also
starting to lose her balance more, and had suffered multiple
falls. There was no history of any preceding illness.
On examination, she had a coarse tremor at rest, which
was more apparent in the arms than her legs. Her joints
appeared to be non-swollen, and had various grazes on
them from falls. She was tender in both popliteal fossae.
Her gait was unsteady and high-stepping, and she preferred
to hold her mothers hand to avoid falling over. She had
difficulties in balancing on only one foot, and Rombergs
sign was strongly positive. Foggs sign was also positive on
the right side. Neurological examination of the upper limbs
showed power grades 5/5 in both arms, with normal tone,
sensation and reflexes. She did however demonstrate past
pointing bilaterally. Lower limb examination found her
power was 4/5 in all leg movements with proximal muscles
weaker than distal. Reflexes were normal bilaterally, and

Rachel Morris is a Paediatric Registrar at Princess of Wales Hospital,

Bridgend, Wales, UK. Conflicts of interest: none.
Swe Lynn is a Paediatric Registrar at Princess of Wales Hospital,
Bridgend, Wales, UK. Conflicts of interest: none.
Torsten Hildebrandt is a Consultant Paediatrician at Princess of
Wales Hospital, Bridgend, Wales, UK. Conflicts of interest: none.
Gareth Thomas is a Consultant Paediatric Neurologist at Princess of
Wales Hospital, Bridgend, Wales, UK.

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SELF-ASSESSMENT

Figure 2 MRI head.

d) X-ray knee
e) Lumber puncture and CSF studies
3. Which single investigation will lead to the diagnosis?
a) CSF protein, cytology, oligoclonal banding
b) Ceruloplasmin and copper
c) B12 and Folate
d) Nerve conduction study
e) Autoantibodies
Results of the subsequent investigations confirmed a diagnosis of sensory GuillaineBarre syndrome.
4. What would be your treatment of choice?
a) Anti-inflammatory and bed rest
b) Intravenous immunoglobulins
c) Corticosteroids
d) Reassurance and follow-up with Neurologist.
e) Plasmapheresis
5. A variety of infectious agents have been associated with
GBS. Which of the following is most frequently associated?
a) Cytomegalovirus
b) EpsteineBarr virus
c) Campylobacter
d) Mycoplasma pneumoniae
e) HIV

Figure 1 MR angiogram.

plantar responses were down going. She also had a

decreased sensation to light touch, pain, temperature, as
well as a loss of proprioception in the left leg. Cranial nerve
examination was unremarkable, including a normal
appearance to her optic fundi bilaterally and no nystagmus.
Over 1 week pain in her knees continued, and she became
more dependent on her parents due to worsening mobilize.
She lost her lower limb reflexes and the weakness increased
distally.
Her initial blood investigations included FBC & film,
U&E, LFT, TFT, CRP, lactate, CK, glucose, all of which were
normal. Her urine organic acids were negative. An X-ray of
her knees was normal, and MRI brain and spine also reported as normal.
Questions
1. What is the most likely diagnosis?
a) Transverse myelitis
b) Intracranial space occupying lesions (e.g. tumour)
c) GuillaineBarre syndrome
d) Acute cerebellitis
e) Atypical Juvenile Idiopathic Arthritis
2. What is your first 2 initial investigations?
a) Base line blood tests (FBC, blood film, U&E, LFT,
CRP)
b) Metabolic screening (Glucose, lactate, blood gas,
urine organic acids)
c) MRI brain

PAEDIATRICS AND CHILD HEALTH 24:1

Case 3
A male baby was delivered at 41 weeks by emergency LSCS
for foetal distress following induction of labour. The antenatal ultrasound scan showed increased AFI. The baby was
born via normal vaginal delivery with thick meconium
stained liquor and the APGARs were recorded as 4 at 1
minute, and 6 at 5 minutes. The cord blood gas and initial
capillary blood gas of the baby were within normal limits.
The baby started grunting and was started on CPAP, antibiotics and IV fluid.
The baby was noted to have profound hypotonia, which
was more obvious proximally than distally. There were no

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SELF-ASSESSMENT

to the structural integrity of the arterial wall allowing blood to

breach the intima and collect between layers of the artery wall
as an intramural haematoma. This can be spontaneous or can
be secondary to (often minor) degrees of trauma. The average
annual incidence rate for spontaneous internal carotid artery
dissection is 1.72 per 100,000 individuals.
The clinical presentation of stroke is variable depending
on the age of the patient. Infants often present with seizures
and altered mental status such as irritability, reduced
conscious level or coma. Older children may have hemiparesis or other focal neurological signs, but can also present with seizure, headaches and lethargy.
The differential diagnosis of stroke is very broad as many
conditions can present with acute neurological deficit, these
include intracranial haemorrhage, aneurysm, tumour,
migraine, epilepsy, intracranial infections and drug toxicity.
Clinical features may raise suspicion of stroke and dissection;
however the diagnosis is confirmed by neuroimaging.
Current UK guidelines from the Royal College of Physicians (RCP) recommend neuro-imaging with MRI for the
investigation of children presenting with clinical stroke, and
this should be as soon as possible after admission. A CT
head is an acceptable initial alternative if an MRI is not
available within 48 hours. Imaging of the cervical and
proximal intracranial arterial vasculature should be performed in all children with arterial ischaemic stroke and
imaging of the cervical vasculature to exclude arterial
dissection should be undertaken within 48 hours of presentation with arterial ischaemic stroke. As part of the
initial work up following an ischaemic stroke children
should be investigated for an underlying prothrombotic
tendency. This should include evaluation for protein C,
protein S deficiency, activated protein C resistance,
increased lipoprotein (a), increased plasma homocysteine,
factor V Leiden, prothrombin G20210A and MTHFR TT677
mutations and antiphospholipid antibodies.
Providing there is no evidence of haemorrhage on brain
imaging, anticoagulation should be considered in children
with confirmed extracranial arterial dissection associated
with arterial ischaemic stroke. There is currently no evidence to support the use of thrombolytic agents in children
(and this is contraindicated in infants where the risk of
resultant haemorrhage is much higher).

active movements against gravity and primitive (except

grasp reflex) reflexes were absent.
The baby needed CPAP for 2 hours and then low flow
oxygen off and on for 29 days. Enteral feeding was introduced slowly.
Both parents were fit and healthy and there was no
relevant family history.
Questions
1. What is your diagnosis?
a) Spinal Muscular Atrophy
b) Congenital Muscular Dystrophy
c) Congenital Myasthenic Syndrome
d) Congenital Brain Malformation
e) Hypoxic Ischaemic Encephalopathy
Initial blood tests, metabolic screens, cranial ultrasound
scan and EEG were normal. Genetic tests showed 46XY
chromosomes with absence of both SMN1 genes.
A diagnosis of SMA1 was made. The baby was reviewed
by Speech and Language team, ENT team and Ophthalmologist. After the MDT meeting an advanced care plan
was agreed and the baby was discharged home
2. What is the chance of next baby being affected by same
disease?
a) 50%
b) 100%
c) 25%
d) 0%
e) Unpredictable
3. Choose the area of the nervous system affected in SMA.
a) Central (primary motor cortex)
b) Posterior horn of spinal cord
c) Anterior horn of spinal cord
d) Peripheral Motor Nerves
e) Neuromuscular junction
4. Which 2 of the followings are most effective in the
management of SMA?
a) Valproate
b) Intracerebroventricular or systemic injection of antisense oligonucleotides
c) Multidisciplinary approach care with advanced care
plan
d) Acetylcholinesterase inhibitor
e) Noninvasive ventilation
f) Phenylbutyrate

Answers

FURTHER READING
1 Golomb MR, Fullerton HJ, Nowak-Gottl U, et al. Male predominance in childhood ischaemic stroke: findings from the
international paediatric stroke study. Stroke 2009; 40: 52.
2 Stroke in childhood: clinical guidelines for diagnosis, management and rehabilitation (Paediatric Stroke Working Group,
November 2004)

Case 1
1. a, d, g
2. a, c
3. d
4. d
5. c

Case 2
1. c
2. a, c

Discussion
Arterial dissections are a common cause of arterial ischaemic
stroke in children. Dissections occur when there is compromise

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Discussion
Spinal Muscular Atrophy is a group of autosomal-recessive
disorders characterized by progressive weakness of the
lower motor neurons, which is pathologically characterized
by loss of anterior horn cells.
Classification of SMA according to ISMAC is as follows.
 SMA type I
 acute infantile (WerdnigeHoffman disease)
 onset Birth to 6 months
 SMA type II
 chronic infantile
 onset between 6 and 18 months
 SMA type III
 chronic juvenile (KugelbergeWelander disease)
 onset after 18 months
 SMA type IV
 adult onset
 mean onset e mid 30s
Most forms of SMA are caused by deletions or mutations
in the SMN1 gene on chromosome 5q and inheritance
pattern is autosomal recessive. There are a number of rare
non-5q spinal muscular atrophies, which can be inherited
by AD, AR, or X linked recessive.
The diagnosis can be confirmed by detection of homozygous deletions of the SMN1 gene. In patients with suspected SMA who have a normal SMN1 gene by molecular
genetic testing, the diagnosis of SMA is made clinically by
electromyography and nerve conduction studies, and
confirmed by muscle biopsy.
SMA type 1 is the most common and severe type of SMA.
It typically presents in the neonatal period and mothers of
affected patients may recognize a decrease or loss of foetal
movement in late pregnancy. Symptoms progress rapidly,
and the majority of infants die before 1 year of age from
respiratory failure. Management is mainly supportive which
includes providing nutrition and respiratory assistance by
methods for mobilizing and clearing of airway secretions or
by noninvasive nasal ventilation.

3. d
4. b
5. c
Discussion
GuillaineBarre syndrome is a disorder causing peripheral
demyelination and axonal degeneration resulting in acute,
ascending and progressive peripheral neuropathy, characterized by weakness, paraesthesia (often painful) and
hyporeflexia. There are a number of atypical variants,
including sensory GuillaineBarre syndrome characterized
by significant sensory ataxia and absent reflexes. There may
be minor motor involvement. The pathophysiology is unknown, however a variety of infectious agents have been
associated, with Campylobacter being the most frequent.
Electrophysiologic studies are the most specific and
sensitive tests for diagnosis of the disease with evidence of
conduction block usually being the earliest abnormality
detectable.
Management of GBS includes monitoring and supportive
care (monitoring of motor, autonomic and respiratory function) and specific therapies (plasmapheresis and administration of intravenous immune globulin). Because of the cost,
risk, and discomfort to the patient, plasmapheresis generally
is not used for ambulatory patients with mild disease or for
patients whose symptoms have stabilized.
Approximately 10e20% of children with GBS require
mechanical ventilation for respiratory failure. Corticosteroids have not been shown to be beneficial.

FURTHER READING
1 Kuroki S, Saida T, Nukina M, et al. Campylobacter jejuni strains
from patients with GuillaineBarre syndrome belong mostly to
Penner serogroup 19 and contain beta-N-acetylglucosamine
residues. Ann Neurol 1993; 33: 243.
2 Evans OB, Vedanarayanan V. GuillaineBarre syndrome. Pediatr
Rev 1997; 18: 10.
3 Hughes RA. Ineffectiveness of high-dose intravenous methylprednisolone in GuillaineBarre syndrome. Lancet 1991; 338:
1142.

FURTHER READING
1 Iannaccone ST. Modern management of spinal muscular atrophy. J Child Neurol 2007; 22: 974.
2 Thomas NH, Dubowitz V. The natural history of type I (severe)
spinal muscular atrophy. Neuromuscul Disord 1994; 4: 497.

Case 3
1. a
2. c
3. c
4. c, e

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