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SELF-ASSESSMENT
PAE
Self-assessment
Questions
Question 1
(h) Serum HSV IgM and IgG antibodies
(i) Serum VZV IgM and IgG antibodies
A 9-year-old girl presents with a 3-month history of inter-
mittent frontal headaches. These are worse in the morning
and for the last 2 weeks have been associated with vomit-
ing. Her parents recall that she fell over in the playground
prior to the onset of headaches and that for the past month
she has also become clumsy. There are no other related
symptoms and, apart from having chickenpox four years
ago, she has no other past medical history of note. She is on
paracetamol and ibuprofen which provide partial relief
from the headaches, but no other regular medication.
Immunizations are up-to-date. Her parents report that she
has missed a significant amount of school in the mornings
as a result of her symptoms, but that she sometimes feels
well enough by lunchtime to be able to attend in the
afternoons.
On examination, her temperature is 37.3 �C, blood
pressure 102/55 mmHg and pulse 98 beats/min. Ataxia and
past-pointing are present. No abnormalities are detected on
fundoscopy.
(A) What is the most likely cause for this presentation?
(Choose ONE ONLY)
(a) Benign (idiopathic) intracranial hypertension
(b) Complex partial seizures
(c) Migraine with Todd’s paresis
(d) Posterior fossa tumour
(e) Varicella zoster virus (VZV) associated acute cere-
bellar ataxia syndrome
(f) School refusal
(g) Subdural haemorrhage
(h) Tuberculous meningitis
(i) Herpes simplex virus (HSV) encephalitis
(B) Which of the following single management steps would
be most appropriate at this stage? (Choose ONE ONLY)
(a) Chest X-ray
(b) Computed tomography (CT) head scan
(c) Electroencephalogram (EEG)
(d) Graded school re-introduction
(e) Lumbar puncture for cytology
(f) Mantoux test
(g) Therapeutic trial of a 5HT agonist, e.g. sumatriptan
Matthew Murray MB BChir MA MRCPCH DCH is a Paediatric Oncologist at
the Department of Paediatric Haematology and Oncology,
Addenbrooke’s Hospital, Cambridge, UK.
James Nicholson MB BChir MA MRCP MRCPCH DM is a Paediatric Oncologist
at the Department of Paediatric Haematology and Oncology,
Addenbrooke’s Hospital, Cambridge, UK.
DIATRICS AND CHILD HEALTH 20:6 304
Question 2
A 15-month-old boy presents to the rapid-referral clinic
with a 3-week history of fever, loss of appetite and general
lethargy. Over the last 5 days his parents have noticed
that a skin lesion has appeared on his back. He has
previously been fit and well with no past medical history
of note. On examination he is very pale, miserable and
cachectic with a temperature of 38.8 �C. Other positive
findings include significant abdominal distension with a 2
cm liver edge and gross splenomegaly extending to the
right iliac fossa. Dermatological examination reveals fine
petechiae and a 1.5 � 1.0 cm isolated ulcerated skin lesion
on his back.
Full blood count reveals: Hb 4.5 g/dl, WCC 1.8 �109/litre, neutrophils 0.2 � 109/litre, platelets 36 � 109/litre
(A) What is the most important feature to elicit from the
history now? (Choose ONE ONLY)
(a) Drug history including allergies
(b) Family history of eczema and atopy
(c) Family history of malignancy, particularly skin
malignancy
(d) Immunization record including BCG
(e) Recent foreign travel
(f) Recent infections
(B) Select the most likely diagnosis from the following list
(Choose ONE ONLY)
(a) Acute lymphoblastic leukaemia (ALL)
(b) Aplastic anaemia
(c) Idiopathic thrombocytopaenic purpura (ITP)
(d) Leishmaniasis
(e) Malaria
(f) Schistosomiasis
(g) Tuberculosis
(h) WiskotteAldrich syndrome
(C) What single test is most likely to establish the diagnosis?
(Choose ONE ONLY)
(a) Biopsy of skin lesion
(b) Blood film, including thick and thin film
(c) Bone marrow aspirate
(d) Chest X-ray
(e) Mantoux test
(f) Serum vitamin B12, ferritin and folate estimation
(g) Stool examination for eggs of Schistosoma species
(h) WiskotteAldrich syndrome protein (WASP) gene
mutation analysis
(D) What would be the most appropriate management for
this condition? (Choose ONE ONLY)
(a) Anti-tuberculous therapy for six months
(b) Bone marrow transplant
� 2010 Elsevier Ltd. All rights reserved.
liver
SELF-ASSESSMENT
(c) Chemotherapy
(d) Oral anti-histamines and topical emollients
(e) Oral prednisolone 2 mg/kg/day initially, gradually
tapered based on full blood counts
(f) Intravenous liposomal amphotericin B (AmBisome)
(g) Intravenous broad spectrum cephalosporin-based
antibiotics
(h) Intravenous immunoglobulin
(i) Splenectomy and lifelong penicillin prophylaxis
kidneymass
Figure 2 Axial CT scan revealing a large right-sided abdominal mass.
Question 3
SELECT ONE ANSWER ONLY FOR EACH QUESTION
Note: Each answer may be used more than once
(A) Acute lymphoblastic leukaemia
(B) Germ cell tumour
(C) Hodgkin’s lymphoma
(D) Nephroblastoma (Wilms’ tumour)
(E) Neuroblastoma
(F) Non-Hodgkin’s lymphoma
(G) Osteosarcoma
(H) Reactive lymphadenopathy
(I) Rhabdomyosarcoma
(J) Ewing’s sarcoma
(1) A 3-year-old boy presents with increasing abdominal
distension, which his mother first noticed 2 weeks ago
whilst bathing him. Past medical history is unremarkable.
On palpation, a large right-sided abdominal mass is
palpated. Chest X-ray reveals multiple small round opacities
bilaterally (see Figure 1). CT scan confirms the abdominal
mass (Figure 2) and pulmonary findings (Figure 3).
(2) A 15-year-old post-pubertal boy presents to his
general practitioner with a 6-month history of a painless,
swollen left testicle. He is otherwise well with no fever and
no significant past medical history. Examination reveals an
enlarged, non-tender left hemiscrotum. Left testis length is
5.5 cm, right testis 3 cm. The scrotum does not trans-
illuminate. The rest of the examination is unremarkable.
pulmonaryopacities
pulmonaryopacities
Figure 1 PA chest X-ray demonstrating multiple, small round opacities
projected over the lung fields bilaterally.
PAEDIATRICS AND CHILD HEALTH 20:6 305
Answers
Question 1
A (d) Posterior fossa tumour
B (b) CT head scan
A
The history of headaches (particularly those worse in the
morning) and associated vomiting are the classical symp-
toms of raised intracranial pressure (RICP). Such symptoms
should not be confused with conditions such as school
refusal e the pattern of symptoms described is sinister and
should warrant further immediate investigation. Impor-
tantly, the absence of frank papilloedema, as occurs in this
case, does not rule out the possibility of RICP. RICP is often
associated with cerebellar symptoms such as nystagmus,
ataxia, past-pointing, as the most likely diagnosis in this
scenario is a posterior fossa tumour (medulloblastoma, low-
grade astrocytoma or occasionally ependymoma). A longer
history (months rather than weeks) is more suggestive of an
astrocytoma (benign) rather than a medulloblastoma
(malignant). However, an astrocytoma may have been
present asymptomatically for some time before presenting
pulmonarylesions
pulmonarylesions
heart
right hemi-diaphragm
Figure 3 Axial CT scan confirming chest X-ray findings seen in Figure 1.
� 2010 Elsevier Ltd. All rights reserved.
SELF-ASSESSMENT
acutely with RICP when the tumour enlarges to a critical
size. Thus a short history per se cannot reliably distinguish
between the two. Subdural haemorrhages may also present
with RICP but are exceedingly rare in children of this age
and would not occur after such a simple, inconsequential
fall as described in this case. Nevertheless, parents will
often report such falls or events as a potential explanation
for their child’s headaches/symptoms.
With varicella zoster virus (VZV) associated cerebellar
ataxia, the symptoms present acutely with the primary
infection, and headaches are not a prominent feature. The
incidence is approximately one in 4000 cases. Benign
(idiopathic) intracranial hypertension presents with head-
ache and RICP, but very rarely cerebellar symptoms. The
nature of the headaches seen in this case (daily, worse in
mornings, often improved within a few hours and after
vomiting) is not typical of migraine, nor do they fit with
a seizure disorder.
B
An urgent CT head scan with contrast should be
arranged, which will identify the tumour and the presence
of any hydrocephalus, dictating the urgency of referral to
a neurosurgical centre. An MRI head scan will more clearly
delineate the tumour compared to a CT scan, and therefore
can be arranged in preference to a CT if it is readily avail-
able and will not result in diagnostic delay. If an MRI is
arranged, the spine should also be imaged as part of tumour
staging, to look for evidence of spinal metastases.
Lumbar puncture (LP) is contraindicated in the presence
of RICP. However, once RICP has been appropriately
controlled (see below), and at least 10e14 days after any
neurosurgical intervention [to allow traumatic cellular
debris within the cerebrospinal fluid (CSF) to settle], LP
should be performed for staging purposes, to look for
evidence of microscopic tumour cells within the CSF.
Microscopic disease (not visible on whole neuro-axis
imaging) is associated with a poorer prognosis and it is
therefore essential to establish its presence or absence. All
other management steps suggested are also inappropriate
given this history.
Initial management in such cases is directed at control-
ling RICP and providing adequate pain relief. RICP usually
occurs secondary to obstruction of CSF flow by the tumour.
Steroids such as oral or intravenous dexamethasone are
used to reduce oedema surrounding the tumour and may
well provide symptomatic improvement (given with an
agent such as ranitidine for protection of the gastric
mucosa). Urgent neurosurgery may be required for a CSF
diversion procedure, e.g. an extra-ventricular drain (EVD)
or third ventriculostomy, if RICP persists despite adminis-
tration of steroids. Occasionally a tumour biopsy is also
taken at the time of this procedure, but this is of secondary
importance to control of RICP.
Subsequent management is directed at establishing
a tissue diagnosis and completing staging investigations in
PAEDIATRICS AND CHILD HEALTH 20:6 306
order to guide further management. In the majority of cases
attempt at complete excision is appropriate and associated
with better outcome. Neurosurgery is usually planned semi-
electively to allow for appropriate investigation and pre-
operative stabilization.
Question 2
A (e) Recent foreign travel
B (d) Leishmaniasis
C (c) Bone marrow aspirate
D (f) Intravenous liposomal amphotericin B (AmBisome)
A
Although all the questions listed should be asked as part of
a full history, including drug history, family history and
immunization record, enquiring about recent foreign travel
is vital in a case of an unexplained fever of such lengthy
duration, particularly when associated with atypical
features such as gross splenomegaly and skin lesions.
B
Leishmaniasis is the most likely diagnosis, caused by the
protozoan parasite (genus Leishmania) and transmitted by
the bite of the phlebotomine sandfly. In the UK, it is
presumed that all cases of leishmaniasis are acquired
abroad, and indeed a history of recent foreign travel to
endemic areas including tropical or Mediterranean coun-
tries occurs in the majority of cases. However, leishmani-
asis may rarely occur by vertical transmission from the
mother, and, furthermore, we are aware of a small number
of cases without the expected history of foreign travel or
evidence of vertical transmission.
The parasite exists in two forms, the smaller, round,
non-motile amastigote and the larger, spindle-shaped,
motile promastigote. It is the latter form in which the
sandfly introduces the parasite into the host, where it
invades macrophages and transforms back into the smaller
amastigote. After replication, the parasites lyse the host cell,
and the progeny migrate through the bloodstream to infect
new macrophage hosts. There are several different forms of
leishmaniasis, the most common being cutaneous (pre-
senting with skin lesions, which heal spontaneously to
leave scars) and the most severe called visceral (VL). VL,
also known as kala-azar, is caused by Leishmania donovani
and Leishmania infantum (Europe, Asia, Africa) or Leish-
mania chagasi (South America). In VL, the parasite
migrates to internal organs such as the spleen, liver and
bone marrow. Consequently, patients present with high
fever, malaise, significant weight loss, hepatosplenomegaly
and cytopaenias (such as anaemia) resulting from direct
bone marrow suppression. After malaria, VL is the second-
largest parasitic killer worldwide, responsible for an esti-
mated half a million deaths per year, and is invariably fatal
if untreated.
The symptoms of VL may be mistaken for other diag-
noses. Malaria may present with a very similar clinical
� 2010 Elsevier Ltd. All rights reserved.
SELF-ASSESSMENT
picture, although skin lesions are uncommon. If patients do
not respond to anti-malarials then a low threshold for
investigation for VL should be maintained. ALL and aplastic
anaemia may present with a similar full blood count, but
skin lesions and gross splenomegaly as described in this
case would be unusual. The history and severe anaemia,
leucopaenia and neutropaenia also do not fit with ITP.
Tuberculosis rarely causes such severe splenomegaly.
WiskotteAldrich syndrome is an X-linked recessive
disorder characterized by eczema, immune deficiency and
thrombocytopaenia, due to mutations of the Wiskotte
Aldrich syndrome protein (WASP) gene, analysis of which is
used to confirm the diagnosis. The nature of the skin lesion
and generalized cytopaenia makes this diagnosis unlikely.
Schistosomiasis (also called bilharzia) is an often chronic
parasitic disease caused by the fluke of the genus Schisto-
soma species, including Schistosoma mansoni, Schistosoma
haematobium and Schistosoma japonicum, which is carried
by freshwater snails. It rarely causes such an acute
presentation as the one described. Finally, it is often diffi-
cult to distinguish the diagnosis of VL from the rare hae-
mophagocytic lymphohistiocytosis (HLH), which typically
presents with unrelenting fever, splenomegaly and cyto-
paenia. In HLH there is a deregulated inflammatory
response with hypercytokinaemias; histiocytes and
lymphocytes accumulate in organs including the skin,
spleen, and liver, and destroy erythrocytes. HLH may be
primary or secondary to infection or auto-immune disease.
Diagnosis may require multiple bone marrow aspirates to
demonstrate the classical morphological finding of haemo-
phagocytosis (engulfment of erythrocytes by histiocytes/
macrophages), in combination with other abnormalities
such as hyperferritinaemia. Untreated, the condition often
progresses rapidly to multiple organ failure and death, and
thus chemotherapy and/or bone marrow transplant is
required to achieve cure.
C
Diagnosis of leishmaniasis is by direct visualization of
the smaller, 2e6 mm diameter, amastigotes (also called
LeishmaneDonovan bodies) within macrophages/mono-
cytes. This may be diagnosed from peripheral blood, bone
marrow or splenic aspirates and lymph node or skin lesion
biopsy. A thin smear is spread on a slide and stained with
Leishman’s or Giemsa’s stain. The gold standard for diag-
nosis historically was visualization of a splenic aspirate, but
bone marrow aspirate has been shown to be equally effec-
tive, with a sensitivity of greater than 95%. Due to the risks
associated with splenic aspirates, bone marrow aspirate is
suggested as the diagnostic test of choice. Diagnosis from
the other listed sites, such as blood and skin lesions is less
effective.
D
In the west, the treatment of choice for VL is a course of
antifungal therapy with intravenous amphotericin B for
PAEDIATRICS AND CHILD HEALTH 20:6 307
a number of weeks, in the liposomal form (AmBisome) if
available. Precise length of treatment should be dictated by
clinical response and advice from the infectious disease and
microbiology teams. The traditional treatment in endemic
areas is still with pentavalent antimonials such as sodium
stibogluconate and meglumine antimoniate. The other
treatment options listed are not appropriate for treatment
of VL.
Question 3
1 (D) Nephroblastoma (Wilms’ tumour)
2 (B) Germ cell tumour
(1) The imaging reveals a large right-sided abdominal mass
(Figure 2) with multiple, small round opacities in the lung
fields bilaterally (Figures 1 and 3), consistent with pulmo-
nary metastases. Nephroblastoma (Wilms’ tumour) is the
most likely diagnosis given the history of prominent
abdominal distension and these pulmonary findings. The
primary tumours are painless in many cases and the child
usually appears otherwise well. Haematuria and hyperten-
sion are present in about 30%, and about 75% of these
embryonal tumours occur in children less than 4 years of
age. Other potential differential diagnoses would include
neuroblastoma (but often unwell, lethargic and in pain at
presentation, with pulmonary metastases rarely seen) and
rhabdomyosarcoma (usually localized, often causing
discomfort). Information on these and other tumours can be
found via the Children’s Cancer and Leukaemia Group
(CCLG) website.
(2) The most likely diagnosis is a testicular germ cell
tumour (GCT), which present as a painless scrotal
swelling. Any mass where a GCT is considered as
a potential diagnosis should have serum tumour markers
(alpha-fetoprotein, AFP, and human choriogonadotropin,
HCG) performed. GCTs have a bimodal incidence in chil-
dren and teenagers, with a peak in those less than 5 years
and more than 12 years. There are a number of different
histological subtypes. In adolescence, testicular tumours
are often either seminomas or a mixed malignant subtype,
whereas in younger children benign teratomas and
malignant yolk sac tumours are most common. Presumed
testicular tumours must be excised via an inguinal
approach, as a scrotal approach risks local tumour seeding
which may require hemi-scrotectomy to achieve local
disease control. Subsequent treatment depends on stage
and histology. For stage 1 disease, there is the option of an
expectant ‘watch & wait’ (rather than a chemotherapy)
policy as in most patients, disease will not recur. This
entails regular clinical examination, imaging and tumour
marker estimation to ensure no abnormal elevation
persists post-operatively.
Occasionally an enlarged testis may be due to infiltration
by ALL (other signs and symptoms are usually, but not
universally, present) or to a rhabdomyosarcoma. Testicular
torsion, or infection e.g. due to epididymo-orchitis would
present acutely with significant pain.
� 2010 Elsevier Ltd. All rights reserved.
SELF-ASSESSMENT
FURTHER READING
Beri S, Gosalakkal JA, Hussain N, Balky AP, Parepalli S. Idiopathic
intracranial hypertension without papilledema. Pediatr Neurol
2010; 42: 56e58.
Children’s Cancer and Leukaemia Group (CCLG) website: http://
www.cclg.org.uk/families/booklet.php?bid¼1&3id¼4&2id¼9.
da Silva MR, Stewart JM, Costa CH. Sensitivity of bone marrow
aspirates in the diagnosis of visceral leishmaniasis. Am J Trop
Med Hyg 2005; 72: 811e814.
PAEDIATRICS AND CHILD HEALTH 20:6 308
Guess HA, Broughton DD, Melton LJ 3rd, Kurland LT. Population-based
studies of varicella complications. Pediatrics 1986; 78: 723e727.
Lewis DW. Pediatric migraine. Neurol Clin 2009; 27: 481e501.
National Travel Health Network and Centre (NATHNAC; funded by
the Health Protection Agency). Leishmaniasis information,
November 2007. http://www.nathnac.org/pro/factsheets/documents/
Leishmaniasisrevised1.pdf.
Pinkerton CR, Plowman PN, Pieters R, eds. Paediatric oncology,
3rd Edn. Hodder Arnold 2004. ISBN: 034080775X.
� 2010 Elsevier Ltd. All rights reserved.
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