SELF-ASSESSMENT
Self-assessment
Questions
Case 1
A 16-year-old boy presented with 2 episodes of collapse in 1
week; witnesses described that he was sitting on a chair
talking and suddenly collapsed. He remained unresponsive for
approximately 45 seconds before spontaneously regaining
consciousness and returning to his normal self. He has no
memory of the event but could remember talking prior to
collapse and waking up. There was no past medical history of
note although he had complained of feeling generally run
down and attended the GP with abdominal pain but no diag-
nosis was made. A full examination was normal and his
toxicology screen was negative. An ECG was performed, as
shown below (see Figure 1):
What is shown by this ECG? Choose one answer.
1. Torsades des pointes
2. Prolonged QTc
3. Wenkebach phenomenon
4. Left ventricular hypertrophy
What should be the next investigation? Choose one answer.
1. Echocardiogram
2. Treadmill exercise stress test
3. Blood tests: electrolytes, calcium, phosphate, magnesium
and thyroid function
4. Reveal device insertion
What is a potential cause of this? Choose one answer.
1. Stress
2. Substance abuse
3. Thyrotoxicity
4. Hypoparathyroidism
Case 2
A 5-year-old boy, presents to the Emergency Department with
an unsteady gait, difficulty using his left arm and facial
asymmetry. His parents give a 3-day history of a mild non-
specific febrile illness. He has no significant past medical or
family history. He usually has good exercise tolerance. His
development is normal and his immunisations are up to date.
He is not on any medications. On examination, his BP is 110/
65 mmHg and he is afebrile. His oxygen saturations are 99%
in room air. Both height and weight are on the 50th centile. He
is noted to have a left hemiplegia, with a more pronounced
weakness of his left upper limb. He also had a left sided facial
weakness with drooling. The remainder of his examination is
unremarkable. CT head is reported as normal.
What is the most likely diagnosis? Select ONE answer only.
1. Acute Disseminated EncephaloMyelitis (ADEM)
2. Acute ischaemic stroke
3. Bacterial meningitis
4. Mitochondrial myopathy, Encephalopathy with
5. Lactic acidosis and Stroke-like episodes (MELAS)
6. Todd’s paresis
PAEDIATRICS AND CHILD HEALTH --:-
Please cite this article in press as: Self-assessment, Paediatrics and Child Health (2018), https://doi.org/10.1016/j.paed.2018.07.009
A Diffusion Weighted MRI was performed and is shown in
Figure 2.
Which of the following is NOT an associated risk factor?
Select ONE answer only.
1. Marfan syndrome
2. Methylmalonic acidaemia
3. Trisomy 21
4. Subacute necrotising encephalomyelopathy (Leigh’s
disease)
5. Neurofibromatosis Type 1
What is the next most important step in management?
1. Oxygen
2. Thrombolysis
3. Commence IV cefotaxime
4. Neurosurgical review
5. IV heparin
Case 3
A 2-year-old African refugee boy is referred by his GP refusing
to weight bear. There is no reported history of trauma. He has
been unsettled over the last few days but no temperatures
have been taken at home. His past medical history is unre-
markable, apart from occasional nose bleeds. His mother has
no concerns regarding his development. She feels he has
normal vision. He has a very restricted diet, eating only cereal
and cow’s milk. He is living at home with his mother who is
his sole carer. On examination, he weighs 9 kg. Some bruising
is noted across his lower limbs with a few petechial spots seen
on his back. There is no swelling or erythema of his lower
limbs and he has full range of joint movement on passive
examination. However, he does cry throughout the examina-
tion. FBC and coagulation studies are normal. An X-ray of his
knees is shown in Figure 3.
He is admitted to the ward for analgesia and ongoing
investigation. During this period he remains afebrile but de-
velops severe pain in his shins on weight bearing. No child
protection concerns are elicited in the history. On further ex-
amination the child is noted to have some gingival bleeding,
spongy blue tinged gums, poor tooth enamel and loose teeth.
What is the most likely diagnosis? Select ONE answer only
1. Vitamin D deficient rickets
2. Non-accidental injury
3. Scurvy
4. Osteomyelitis
5. Haematological malignancy
What investigation is likely to confirm the diagnosis? Select
ONE answer
1. Vitamin D level
2. Vitamin C level
3. Bone scan
4. Vitamin A level
5. Skeletal survey
1 Ó 2018 Elsevier Ltd. All rights reserved.
 SELF-ASSESSMENT

Figure 1

Figure 3

Hypocalcaemia predisposes to arrhythmias by affecting

both depolarisation and repolarisation of cardiac myocytes.
Figure 2
Normally calcium blocks sodium channels and prevents
depolarisation. Decreases in calcium allow increased sodium
Answers passage and lowers the depolarisation threshold, causing
Case 1 greater myocardial irritability (the positive bathmotropic
Answers: 2, 3, 4 effect).
This boy had severe hypocalcaemia secondary to hypo- Hypocalcaemia causes opening of L-type calcium channels
parathyroidism. He had suffered a cardiogenic faint due to during the repolarisation phase of the cardiac action potential,
polymorphic ventricular tachycardia secondary to prolonged prolonging the QT interval. Late calcium influx and early after-
QTc caused by hypocalcaemia. depolarisation then occurs. If the depolarisation threshold is

PAEDIATRICS AND CHILD HEALTH --:- 2 Ó 2018 Elsevier Ltd. All rights reserved.

Please cite this article in press as: Self-assessment, Paediatrics and Child Health (2018), https://doi.org/10.1016/j.paed.2018.07.009
 SELF-ASSESSMENT
reached a new action potential can be triggered. As neigh-
bouring myocytes may be at different stages of refractoriness
this may lead to re-entrant tachyarrhythmias (namely torsades
de pointes, ventricular tachycardia and ventricular fibrilla-
tion), thus causing loss of cardiac output and collapse.
Parathyroid hormone secretion from the parathyroid gland
maintains serum calcium homeostasis. Hypoparathyroidism
can result from defective hormone synthesis, end-organ
resistance or inappropriate regulation of the calcium sensing
receptor (for example antibody mediated). The resulting
biochemical defects are hypocalcaemia and hyper-
phosphataemia, with corresponding clinical abnormalities
including generalised malaise, fatigue, abdominal pain and
constipation, bone ache and if extreme hypocalcaemiac sei-
zures, tetany, laryngospasm, stridor and cardiac arrhythmias
including prolonged QTc.
Current mainstays of treatment are calcium replacement,
either IV or orally depending on the severity of the symptoms,
and supplementation with activated vitamin D. Although there
are current trials of synthetic parathyroid hormone with
promising initial results, these have not been approved for
mainstream use.
This boy will be followed up in endocrine clinic for close
monitoring of his calcium levels but also, if his hypoparathy-
roidism proves to be an autoimmune problem, then he will
need monitoring for development of further autoimmune
conditions.
This case highlights the importance of considering cardiac
arrhythmias as a cause of unexplained syncope or “fits”, and
also to remember metabolic causes of cardiac rhythm distur-
bance as these are potentially easily treatable and reversible.
FURTHER READING
1. Armstrong CM, Cota G. Calcium block of Na‡ channels and its
effect on closing rate: 4154e4157 1999. PMID PMC22436.
2. Winer KK, Sinaii N, Peterson D, Sainz B Jr., Cutler GB Jr. Effects
of once versus twice-daily parathyroid hormone 1 e34 therapy in
children with hypoparathyroidism. J Clin Endocrinol Metab. Sep
2008; 93:3389e95.
Case 2
Answers: 2, 3, 5
Stroke has been increasingly recognised in infants and
children in recent years, the incidence having found to be
around 2.3 to 13/100,000 and increasing. Diagnosis and
management can be difficult because of the wide variation in
underlying risk factors. In more than 50% of cases, a risk
factor will be elicited in the history. Children are slightly
more likely to have ischaemic strokes than haemorrhagic.
Risk factors for acute ischaemic stroke in children differ
greatly and are more varied than those in adults. The most
common cause of stroke in children is sickle cell disease.
Other risk factors include congenital heart disease, mito-
chondrial encephalopathies, organic acidaemias and heredi-
tary disorders of connective tissue such as Ehlers Danlos
syndrome (type IV). However, even after extensive in-
vestigations, in up to 30% of children with an acute
PAEDIATRICS AND CHILD HEALTH --:-
Please cite this article in press as: Self-assessment, Paediatrics and Child Health (2018), https://doi.org/10.1016/j.paed.2018.07.009
ischaemic stroke, no cause is found. Following an acute
ischaemic stroke (AIS), 6% of children will die, 75% may
develop chronic neurological and psychological deficits and
nearly 20% will have another stroke.
Figure 2 shows an Axial DWI (Diffusion weighted image)
showing a small area of restricted diffusion in the right pos-
terior limb of the internal capsule. Urgent neuroimaging is
indicated as evaluation of the lesion for the possibility of a
penumbra may lead to a reduction in morbidity, mortality or
recurrence of a stroke. Brain MRI and head and neck MRA
(Angiography) as soon as possible is recommended for the
investigation of children presenting with clinical stroke. If a
cerebral sinus venous thrombosis is suspected an MRV
(Venography) is indicated. If a brain MRI not available within
48 hours, CT is an acceptable initial alternative, especially to
rule out an intracranial haemorrhage. It should be noted that
the initial CT can be normal and also cannot assess the pos-
terior circulation. Children should also be investigated for an
underlying prothrombotic tendency.
Initial supportive management of children with acute
ischaemic stroke includes maintaining normal oxygen satu-
rations, temperature, blood pressure and glucose levels.
Adequate hydration is also important. There is no evidence
that oxygen supplementation to those patients who are not
hypoxaemic is beneficial. Prophylactic antiepileptic medica-
tion in stroke is not indicated. In adult patients, stroke man-
agement includes consideration of time critical thrombolysis
and aspirin. In children, anticoagulation, in the form of low
molecular weight heparin infusion should be consid-ered
providing there is no haemorrhage on brain imaging. To
date there have been no evidence based studies supporting
conclusively the use of thrombolysis and the treatment re-
mains controversial in children. Aspirin (5 mg/kg/day) is
recommended once there is radiological confirmation of an
acute ischaemic stroke (AIS). Aspirin is contraindicated in
patients with evidence of intracranial haemorrhage on imag-
ing and those with sickle cell disease. In the latter group of
patients urgent exchange transfusion is recommended. Should
the exchange transfusion likely be delayed for more than four
hours, a top up blood transfusion is advised, especially if the
patient is severely anaemic.
Acute disseminated encephalomyelitis (ADEM) is charac-
terised by a brief but widespread attack of inflammation in the
brain and spinal cord that damages myelin e the protective
covering of nerve fibres. ADEM often follows viral or bacterial
infections, or less often, vaccination for measles, mumps, or
rubella. Symptoms present rapidly, beginning with
encephalitis-like symptoms such as fever, fatigue, headache,
nausea and vomiting and in the most severe cases, seizures
and coma. ADEM typically damages white matter, leading to
neurological symptoms such as visual loss (due to inflam-
mation of the optic nerve) in one or both eyes, weakness even
to the point of paralysis, and difficulty coordinating voluntary
muscle movements. ADEM may be treated with high dose
steroids, or in resistant cases, plasmapheresis or
immunoglobulin.
3 Ó 2018 Elsevier Ltd. All rights reserved.
 SELF-ASSESSMENT
MELAS (mitochondrial encephalopathy, lactic acidosis and
stroke-like episodes) manifests with muscle weakness and
pain, recurrent headaches, loss of appetite, vomiting, and
seizures. Most affected individuals experience stroke-like ep-
isodes beginning before the age of 40. These episodes often
involve hemiparesis, altered consciousness, vision abnormal-
ities, seizures, and severe headaches resembling migraines.
Repeated stroke-like episodes can progressively damage the
brain, leading to vision loss, problems with movement, and a
loss of intellectual function (dementia).
FURTHER READING
Stroke in childhood: Clinical guideline for diagnosis, management
and rehabilitation, May 2017, RCPCH: https://www.rcpch.ac.
uk/sites/default/files/2018-07/2017_stroke_in_childhood_-_
guideline_final_3.6.pdf.
Case 3
Answers: 3, 2
Scurvy is a clinical condition due to a deficiency of Vitamin
C (ascorbic acid). It is characterised by swollen and bleeding
gums, loose teeth, pain and stiffness of joints and lower ex-
tremities and bleeding under the skin. Although uncommon,
scurvy still occurs, especially in at risk patients such as those
with diabetes mellitus, coeliac disease, Crohn’s disease, those
on haemodialysis and on very restrictive diets due to food
PAEDIATRICS AND CHILD HEALTH --:-
Please cite this article in press as: Self-assessment, Paediatrics and Child Health (2018), https://doi.org/10.1016/j.paed.2018.07.009
allergies. Refugee children are also at risk of scurvy as their
families are often dependent on external suppliers for their
food. There may be limited supply of fresh green vegetables
and citrus fruits.
Vitamin C is required for enzyme function and removal of
free radicals. It protects DNA, protein and capillary blood
vessel walls from damage from free radicals. Impaired
collagen synthesis results in poor wound healing and also
affects skin cartilage, dentine, osteoid and blood vessel walls.
75% of patients with scurvy will have a normochromic nor-
mocytic anaemia also. Vitamin C also affects haematopoiesis
by enhancing absorption of iron from the small intestine.
Scurvy occurs when Vitamin C has been omitted from the
diet for at least one to three months. Figure 3 shows an X-ray
of the distal femurs, proximal tibias and fibula. It shows fea-
tures of established scurvy: subperiostal collections/haemor-
rhages overlying the tibia; bilateral, relatively symmetric,
periphyseal sclerotic metaphyseal bands (Frankel’s lines) with
subjacent bands of lucency (Trummerfeld zones); regional
ground glass osteopenia within the epiphyses and to a lesser
extent the metaphyses; sclerotic outlining of epiphyseal mar-
gins (Wimberger ring sign).
FURTHER READING
http://emedicine.medscape.com/article/125350-overview.
4 Ó 2018 Elsevier Ltd. All rights reserved.