SELF-ASSESSMENT

Self-assessment

Questions A Diffusion Weighted MRI was performed and is shown in

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

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 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

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 SELF-ASSESSMENT

reached a new action potential can be triggered. As neigh- ischaemic stroke, no cause is found. Following an acute
bouring myocytes may be at different stages of refractoriness ischaemic stroke (AIS), 6% of children will die, 75% may
this may lead to re-entrant tachyarrhythmias (namely torsades develop chronic neurological and psychological deficits and
de pointes, ventricular tachycardia and ventricular fibrilla- nearly 20% will have another stroke.
tion), thus causing loss of cardiac output and collapse. Figure 2 shows an Axial DWI (Diffusion weighted image)
Parathyroid hormone secretion from the parathyroid gland showing a small area of restricted diffusion in the right pos-
maintains serum calcium homeostasis. Hypoparathyroidism terior limb of the internal capsule. Urgent neuroimaging is
can result from defective hormone synthesis, end-organ indicated as evaluation of the lesion for the possibility of a
resistance or inappropriate regulation of the calcium sensing penumbra may lead to a reduction in morbidity, mortality or
receptor (for example antibody mediated). The resulting recurrence of a stroke. Brain MRI and head and neck MRA
biochemical defects are hypocalcaemia and hyper- (Angiography) as soon as possible is recommended for the
phosphataemia, with corresponding clinical abnormalities investigation of children presenting with clinical stroke. If a
including generalised malaise, fatigue, abdominal pain and cerebral sinus venous thrombosis is suspected an MRV
constipation, bone ache and if extreme hypocalcaemiac sei- (Venography) is indicated. If a brain MRI not available within
zures, tetany, laryngospasm, stridor and cardiac arrhythmias 48 hours, CT is an acceptable initial alternative, especially to
including prolonged QTc. rule out an intracranial haemorrhage. It should be noted that
Current mainstays of treatment are calcium replacement, the initial CT can be normal and also cannot assess the pos-
either IV or orally depending on the severity of the symptoms, terior circulation. Children should also be investigated for an
and supplementation with activated vitamin D. Although there underlying prothrombotic tendency.
are current trials of synthetic parathyroid hormone with Initial supportive management of children with acute
promising initial results, these have not been approved for ischaemic stroke includes maintaining normal oxygen satu-
mainstream use. rations, temperature, blood pressure and glucose levels.
This boy will be followed up in endocrine clinic for close Adequate hydration is also important. There is no evidence
monitoring of his calcium levels but also, if his hypoparathy- that oxygen supplementation to those patients who are not
roidism proves to be an autoimmune problem, then he will hypoxaemic is beneficial. Prophylactic antiepileptic medica-
need monitoring for development of further autoimmune tion in stroke is not indicated. In adult patients, stroke man-
conditions. agement includes consideration of time critical thrombolysis
This case highlights the importance of considering cardiac and aspirin. In children, anticoagulation, in the form of low
arrhythmias as a cause of unexplained syncope or “fits”, and molecular weight heparin infusion should be consid-ered
also to remember metabolic causes of cardiac rhythm distur- providing there is no haemorrhage on brain imaging. To
bance as these are potentially easily treatable and reversible. date there have been no evidence based studies supporting
conclusively the use of thrombolysis and the treatment re-
FURTHER READING mains controversial in children. Aspirin (5 mg/kg/day) is
1. Armstrong CM, Cota G. Calcium block of Na‡ channels and its recommended once there is radiological confirmation of an
effect on closing rate: 4154e4157 1999. PMID PMC22436. acute ischaemic stroke (AIS). Aspirin is contraindicated in
2. Winer KK, Sinaii N, Peterson D, Sainz B Jr., Cutler GB Jr. Effects patients with evidence of intracranial haemorrhage on imag-
of once versus twice-daily parathyroid hormone 1 e34 therapy in ing and those with sickle cell disease. In the latter group of
children with hypoparathyroidism. J Clin Endocrinol Metab. Sep patients urgent exchange transfusion is recommended. Should
2008; 93:3389e95. the exchange transfusion likely be delayed for more than four
Case 2 hours, a top up blood transfusion is advised, especially if the
Answers: 2, 3, 5 patient is severely anaemic.
Stroke has been increasingly recognised in infants and Acute disseminated encephalomyelitis (ADEM) is charac-
children in recent years, the incidence having found to be terised by a brief but widespread attack of inflammation in the
around 2.3 to 13/100,000 and increasing. Diagnosis and brain and spinal cord that damages myelin e the protective
management can be difficult because of the wide variation in covering of nerve fibres. ADEM often follows viral or bacterial
underlying risk factors. In more than 50% of cases, a risk infections, or less often, vaccination for measles, mumps, or
factor will be elicited in the history. Children are slightly rubella. Symptoms present rapidly, beginning with
more likely to have ischaemic strokes than haemorrhagic. encephalitis-like symptoms such as fever, fatigue, headache,
Risk factors for acute ischaemic stroke in children differ nausea and vomiting and in the most severe cases, seizures
greatly and are more varied than those in adults. The most and coma. ADEM typically damages white matter, leading to
common cause of stroke in children is sickle cell disease. neurological symptoms such as visual loss (due to inflam-
Other risk factors include congenital heart disease, mito- mation of the optic nerve) in one or both eyes, weakness even
chondrial encephalopathies, organic acidaemias and heredi- to the point of paralysis, and difficulty coordinating voluntary
tary disorders of connective tissue such as Ehlers Danlos muscle movements. ADEM may be treated with high dose
syndrome (type IV). However, even after extensive in- steroids, or in resistant cases, plasmapheresis or
vestigations, in up to 30% of children with an acute immunoglobulin.

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 SELF-ASSESSMENT

MELAS (mitochondrial encephalopathy, lactic acidosis and allergies. Refugee children are also at risk of scurvy as their
stroke-like episodes) manifests with muscle weakness and families are often dependent on external suppliers for their
pain, recurrent headaches, loss of appetite, vomiting, and food. There may be limited supply of fresh green vegetables
seizures. Most affected individuals experience stroke-like ep- and citrus fruits.
isodes beginning before the age of 40. These episodes often Vitamin C is required for enzyme function and removal of
involve hemiparesis, altered consciousness, vision abnormal- free radicals. It protects DNA, protein and capillary blood
ities, seizures, and severe headaches resembling migraines. vessel walls from damage from free radicals. Impaired
Repeated stroke-like episodes can progressively damage the collagen synthesis results in poor wound healing and also
brain, leading to vision loss, problems with movement, and a affects skin cartilage, dentine, osteoid and blood vessel walls.
loss of intellectual function (dementia). 75% of patients with scurvy will have a normochromic nor-
mocytic anaemia also. Vitamin C also affects haematopoiesis
FURTHER READING by enhancing absorption of iron from the small intestine.
Stroke in childhood: Clinical guideline for diagnosis, management Scurvy occurs when Vitamin C has been omitted from the
and rehabilitation, May 2017, RCPCH: https://www.rcpch.ac. diet for at least one to three months. Figure 3 shows an X-ray
uk/sites/default/files/2018-07/2017_stroke_in_childhood_-_ of the distal femurs, proximal tibias and fibula. It shows fea-
guideline_final_3.6.pdf. tures of established scurvy: subperiostal collections/haemor-
Case 3 rhages overlying the tibia; bilateral, relatively symmetric,
Answers: 3, 2 periphyseal sclerotic metaphyseal bands (Frankel’s lines) with
Scurvy is a clinical condition due to a deficiency of Vitamin subjacent bands of lucency (Trummerfeld zones); regional
C (ascorbic acid). It is characterised by swollen and bleeding ground glass osteopenia within the epiphyses and to a lesser
gums, loose teeth, pain and stiffness of joints and lower ex- extent the metaphyses; sclerotic outlining of epiphyseal mar-
tremities and bleeding under the skin. Although uncommon, gins (Wimberger ring sign).
scurvy still occurs, especially in at risk patients such as those
FURTHER READING
with diabetes mellitus, coeliac disease, Crohn’s disease, those
http://emedicine.medscape.com/article/125350-overview.
on haemodialysis and on very restrictive diets due to food

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Please cite this article in press as: Self-assessment, Paediatrics and Child Health (2018), https://doi.org/10.1016/j.paed.2018.07.009