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Options:

A Juvenile chronic arthritis


B Psoriatic arthritis
C Kawasaki disease
D Dermatomyostis
E Leukaemia
F Systemic lupus erythematosis
G Sickle cell disease
H HenochSchnlein purpura
I Rheumatic fever
J Sarcoidosis

For each of the following case scenarios select the most likely diagnosis from the list
above. Each option may be used once, more than once, or not at all.

Scenario 1

Correct
A 10-year-old female presents with a 14-day history of proximal muscle weakness and
generalized malaise. She has erthematous lesions in a butterfly distribution on her face,
swollen eyelids and a scaly erythema over the extensor surfaces of several joints.

Investigations show:

WCC 7.8
Hb 13.2 g m/L
U&Es normal
Creatine phosphokinase 182 IU/l (30135 IU/l)
Aldolase 18.7 IU/l (1.28.8 IU/l)
ESR 20
ANA immunofluorescence negative
D Correct answer
Dermatomyostis
Dermatomyositis can present at any age of childhood but shows a peak incidence
between 4 and 10 years of age. It is commoner in girls than in boys. There is a
marked vasculitis of skin, muscles and internal organs. Clinical features include
proximal muscle weakness which can affect the limbs, girdle, neck, palate and may
affect swallowing and speech and in severe cases can cause respiratory depression.
Serum creatine phosphokinase and aldolase levels are raised due to muscle injury. A
skin rash periorbital heliotrope eruption and oedema, red/ pink scaly patches over
extensor surfaces of finger joints (Gottrons patches), elbows, knees and ankle joints,
or dilated capillaries in the eyelids and nail folds may be seen. The vasculitis can
affect the gastrointestinal tract and may cause abdominal pain, bleeding or
perforation. A raised ESR, CPK and aldolase aid diagnosis. EMG may show the
characteristic pattern of polyphasic short motor potentials with spontaneous
fibrillations. Muscle biopsy shows inflammatory changes. Treatment involves
physiotherapy and corticosteroids. Resistant cases may necessitate the use of
cytotoxic drugs (eg methotrexate, azathioprine, cyclophosphamide) or
gammaglobulin.

Scenario 2

Correct
An 8-year-old female presents with swelling of her left ankle. She reports previous
episodes of swelling of her right ring finger for several months followed by swelling of
her right knee. Examination showed nail pitting but no rash.

Investigations showed:

ESR 16
WCC 6.9
Hb 12.8
U&Es normal
Creatine phosphokinase normal
Rheumatoid factor negative
ANA negative
B Correct answer
Psoriatic arthritis
Psoriatic arthritis occurs in about 10% of psoriasis cases. It is an arthritis associated
with a typical psoriatic type rash, but can occur in the absence of active skin disease.
This girl shows a typical presentation with an arthritis, a history of previous episode
of swelling of her finger (dactylitis), and nail pitting. A family history of psoriasis or
evidence of a psoriatic-like rash would aid diagnosis. Females are more commonly
affected than males. It is commonly an asymmetrical arthritis affecting large joints
which can occasionally be severely destructive. It follows a relapsing and remitting
course, often into adult life. Treatment involves physiotherapy and NSAIDs, with
severe cases requiring immunosuppressants.

Scenario 3
Correct
A 3-year-old male presents with 7-day history of fever and a fine generalised
polymorphous rash. He has swollen hands and swollen cracked red lips. Examination
reveals a single large cervical lymph node of approximately 15 mm diameter.

Investigations showed:

WCC 18.5
Platelets 420
Hb 12.6
ESR 16
Rheumatoid factor negative
Urine dipstix negative for blood and protein
C Correct answer
Kawasaki disease

A diagnosis of Kawasaki disease can be made with the presence of fever for more
than 5 days duration plus four of the five following criteria:

cervical lyphadenopathy polymorphous rash (can vary from maculopapular to


urticarial) mucosal involvement : dry cracked red lips, strawberry tongue,
oropharyngeal erythema. involvement of etxremities: induration, erythema and
oedema of the palms of hands and soles of feet, with fingertip and toe desquamation
occuring usually after 10 days. bilateral, non-suppurative conjunctivitis. It can
affect most systems and can cause a wide range of symptoms and signs including:

CVS: coronary artery aneurysms and thrombosis, myocarditis, pericarditis,


cardiac tamponade, cardiac failure. GI: diarrhoea, vomiting. GU: sterile pyuria,
urethritis. CNS: nerve palsies, aseptic meningitis musculoskeletal: arthritis.An
ECG should be performed to look for arrrhythmias and evidence of myocarditis
and an echocardiogram to look for aneurysms. Coronary artery aneurysms usually
develop 24 weeks from onset so serial echocardiograms are necessary. Treatment
involves intravenous gammaglobulin and aspirin.
Next question

Incorrect
A 14-year-old boy with left groin pain for the past 6 weeks is noted to be standing with his left
leg externally rotated. Examination reveals negligible internal rotation of the hip.

What is the most likely diagnosis?


Congenital dislocation of the hip
Your answer
Juvenile rheumatoid arthritis

Perthes disease

Slipped upper femoral epiphysis


Correct answer
Osteogenic sarcoma

Slipped upper femoral epiphysis affects children aged 1016 years. Some 20% of cases are
bilateral. About half the patients are obese and hypogonadal. On examination flexion,
adduction and medial rotation are limited.

Congenital dislocation of the hips is seen in neonates. Girls are more commonly affected
than boys. If not detected in infancy, older children may present with delay in walking, an
abnormal waddling gait and an inability to fully abduct the affected hip.

Stills disease (juvenile rheumatoid arthritis) occurs chiefly in prepubertal girls with mono-
or polyarticular synovitis with erosion of cartilage, often preceded by fevers, iridocyclitis,
pneumonitis, lymphadenopathy and splenomegaly. It accounts for 10% of all cases of
juvenile chronic arthritis.

Perthes disease is osteochondritis of the femoral head, affecting children between 3 and
11 years of age. It presents with pain in the hip or knee and causes a limp. On examination
all movements at the hip are limited.

Osteogenic sarcoma is predominantly a tumour of childhood or early adult life. The


commonest sites are the lower end of the femur, the upper end of the tibia and the upper
end of the humerus. Local pain and swelling are characteristic clinical features. Movements
are usually not affected in the early stages.

Incorrect
The mother of a 12-year-old boy with ulcerative colitis asks about her sons risk of
developing joint disease. You tell her:

If he is positive for IgM rheumatoid factor, he has a high risk of


developing arthritis

If he is positive for antinuclear antibodies, he has a high risk of


developing arthritis

His risk of having joint problems is increased when disease is active


Correct
answer
Prognosis for peripheral arthritis is relatively poor
If he is positive for HLA-B27, he is more likely to get peripheral joint
disease.
Your answer

Two types of arthritis occur in IBD; peripheral arthritis which carries a very good prognosis
and normally involves few joints, and spondylitic arthritis. HLA-B27 is strongly correlated
with the spondylitic type. ANA and RF are negative. Peripheral arthritis disease activity
correlates with bowel disease activity.
Next question

Correct
A 16-year-old football player presents with a swollen left knee and locking. He complains of
pain after exercise. On examination wasting over the quadriceps and lateral aspect of the joint
are noted. Arthroscopy of the joint reveals three loose bodies in the synovial cavity.

What is the most likely diagnosis?

Chip fractures of the joint surfaces

Osteoarthritis

Synovial chondromatosis

Osteochondritis dissecans
Your answer
Semi-lunar cartilage tear

Osteochondritis dissecans is local necrosis of the articular cartilage and its underlying bone
resulting in a loose body leaving the surrounding bone. The cause is unknown. The medial
femoral condyle is most commonly affected, with the condition being seen in adolescents
and young adults. Either three of four loose bodies may be present in the knee.

Usually one or two loose bodies may be seen in chip fractures of joint surfaces.
Osteoarthritis is unlikely at this age. In osteoarthritis, the number of loose bodies may
increase up to 10. Multiple loose bodies (> 50) are seen in synovial chondromatosis. This
condition is rarely associated with pain. Semi-lunar cartilage tears occur from a forcible
twist to the flexed knee (eg while playing football). Extension is limited as the displaced
segment lodges between the femoral and tibial condyles. Loose bodies are not seen in this
condition.
Next question

Correct
A patient with recently diagnosed systemic lupus erythematosus undergoes serum testing for
antibody levels.
Which of the following antibodies would be most indicative of severe systemic
involvement?

Antinuclear antibodies

Anticardiolipin antibodies

Antinucleosome antibodies

Rheumatoid factor

Anti double-stranded DNA antibodies


Your answer
Double-stranded DNA (dsDNA) binding is specific for systemic lupus erythematosus (SLE)
and is present in 50% of cases. However, its presence most often indicates severe systemic
involvement (eg renal disease). Antinucleosome antibodies pre-date anti-dsDNA antibodies.
Antinuclear antibodies are positive in almost all cases and are non-specific. Rheumatoid
factor is positive in 25%, while anticardiolipin antibodies are present in 40% of patients.
Next question

Correct
A 3-year-old boy presents with a 5-day history of fever, widespread rash, and a painful, swollen
left knee. On examination, he looks unwell, with red eyes, a red throat and bilateral cervical
and axillary lymphadenopathy.

What is the most likely diagnosis?

Reactive arthritis

Septic arthritis

Kawasaki disease
Your answer
Acute leukaemia

Psoriatic arthritis

This child fulfils the diagnostic criteria for Kawasaki disease, which comprise:
1) Fever lasting 5 days or more
2) Any 4 of:
Cervical lymphadenopathy
Bilateral conjunctival injection
Changes in lips and oral cavity
Polymorphous erythematous rash
Changes in extremeties palmar and plantar erythema followed by oedema and
desquamation.
It tends to occur in younger children and arthralgia and arthritis are commonly seen.

Reactive arthritis normally occurs after an infection. Clinical features include


conjunctivitis, rash and fever. It occurs most often in teenage boys.
In septic arthritis, the child is unwell with fever, but doesnt have the other signs
described.

Next question

Correct
A 4-year-old child presents with an 8-week history of pain in both knees and both ankles, which
her mother has been giving ibuprofen to control. She is otherwise well.

What is the most likely diagnosis?

Growing pains

Oligoarticular JIA
Your answer

Systemic-onset JIA

Dermatomyositis

Polyarticular JIA

Oligoarticular JIA involves 1-4 joints and onset is highest at 1-4 years. The arthritis has to
have been present for >6 weeks for diagnosis. It affects five times as many girls as boys and
NSAIDs form part of the treatment. Growing pains tend to be nocturnal and are thought to
be due to muscle pain secondary to exercise and hypermobility.
This girl has no systemic features, and no history of proximal muscle weakness (as in DM).
Polyarticular JIA involves at least 5 joints.

The following is/are true of Juvenile Idiopathic Arthritis:

Correct
JIA is commoner in girls True False

Correct
Polyarticular JIA implies involvement of at least 6 joints True False

Correct
Anterior uveitis associated with oligoarticular arthritis presents with a
painful red eye True False

Incorrect
Oligoarticular arthritis rarely involves the small joints of the hand True False

Incorrect
Cervical spine involvement suggests oligoarticular arthritis True False

Oligoarticular JIA is the commonest form and this is commoner in girls than boys, so JIA as a
whole is commoner in girls.
Polyarticular JIA involves 5 or more joints, whereas oligoarticular involves 1-4 joints.
Chronic anterior uveitis is an asymptomatic condition in oligoarticular JIA, but can be sight
threatening. For this reason, regular ophthalmological screening is necessary.
Oligoarticular JIA commonly involves the larger, weight-bearing joints, especially the
knees. Involvement of the small joints of the hand, cervical spine or TMJ suggests
polyarticular disease.

The following are common findings in systemic-onset Juvenile idiopathic arthritis (JIA):

Correct
Nail Pitting True False

Correct
Positive for Rh factor True False

Correct
High fever True False

Incorrect
Malar rash True False

Correct
Anterior uveitis True False

Systemic-onset JIA often presents with high fever, general malaise, anorexia and weight
loss. The rash is characteristically a salmon-pink rash, rather than the malar rash
associated with SLE. Nail pitting is found in psoriatic arthritis. Anterior uveitis complicates
oligoarticular JIA. It is a chronic problem, therefore not found at the onset of JIA.
Rheumatoid factor is rarely positive in systemic onset JIA.
Next question

Correct
A 12-year old child presents with a several month history of lethargy and feeling weak. She
complains that she finds it hard to walk up stairs and has lately been asking her mother to wash
her hair for her since she cannot manage to do it herself.

On exam ination, she has a rash over her eyelids. The best next step would be:

Test for Anti-dsDNA

Advise her to take bed rest and analgesia as required

Physiotherapy and a short course of prednisolone

Monospot test

Test CK and LDH levels


Your answer
This child presents with symptoms of dermatomyositis. This causes symmetrical proximal
muscle weakness and patients often complain of difficulty climbing stairs and brushing
hair. Diagnosis is based on the presence of a rash ( classical heliotrope rash over the
eyelids, or Gottrons sign rash over the joints) and three other criteria out of:
Elevated skeletal muscle enzymes
Symmetrical proximal muscle weakness
EMG/MRI finding of myositis
Muscle biopsy positive for DM
In this case, other than full examination to elicit muscle weakness, the least invasive and
quickest test to do is skeletal muscle enzymes.
Anti dsDNA is specific for SLE. Monospot tests for glandular fever, which can cause fatigue,
but not proximal muscle weakness. Physiotherapy and steroids form part of the treatment
for DM but the diagnosis must of course be established first.
Incorrect
A 5-year-old Asian boy, who has been having episodes of fever and a persistent cough for the
past 3 weeks, now complains of right hip pain. Blood tests show: WCC 19 109 /l, ESR 110
mm/1st h and CRP 102 mg/l. An X-ray of the hip joint shows diffuse rarefaction.

What is the most likely diagnosis?

Septic arthritis

Tuberculous arthritis
Correct answer
Osteomyelitis
Your answer
Reactive arthritis

Juvenile rheumatoid arthritis

The history and investigations are suggestive of tuberculous arthritis. Tuberculous arthritis
usually affects children aged 25 years. The hip is one of the most frequently affected
joints. Early X-ray signs are rarefaction of bone. Subsequently there is fuzziness of the
joint margins and narrowing of the joint space. The white cell count, erythrocyte
sedimentation rate and C-reactive protein levels are usually high.

Pyogenic arthritis of the hip is uncommon. A hot, painful, swollen joint usually accompanies
this condition. Early X-rays are usually normal.
The distal femur or upper tibia is the common site for osteomyelitis. X-ray changes are not
apparent for a few days but then show haziness and loss of density of the affected bone
followed by subperiosteal reaction and, later, sequestrum and involucrum.

Reactive arthritis usually affects young adults and follows 46 weeks after genitourinary
(chlamydial) or gastrointestinal (shigella, yersinia) infection. X-rays may show puffy
periostitis at ligamentous insertions in the initial stages.

Stills disease (juvenile rheumatoid arthritis) occurs chiefly in prepubertal girls with mono-
or polyarticular synovitis with erosion of cartilage, often preceded by fevers, iridocyclitis,
pneumonitis, lymphadenopathy and splenomegaly. Early X-rays are usually normal in Stills
disease.
Next question

Which of the following are true in patients with achondroplasia?

Correct
Diagnostic radiological features are present at birth True False

Correct
Inheritance is autosomal recessive True False

Incorrect
Length of the vertebral spine is decreased True False

Correct
Sexual development is retarded True False

Correct
Spontaneous fractures are a recognised complication True False

Achondroplasia is inherited as an autosomal dominant condition with a new mutation rate


of 90%. Mutations in the gene encoding fibroblast growth factor receptor 3 (FGFR3) on
chromosome 4 have been identified in children with achondroplasia.
Achondroplastic children may present in the neonatal period with short limbs and
characteristic craniofacial features. Skeletal abnormalities include small cuboid vertebral
bodies with short pedicles and progressive narrowing of lumbar interpedicular distance.

Correct
A 16-year-old girl presents for review. She has recently suffered a viral upper respiratory tract
infection diagnosed by her general practitioner (GP) as glandular fever. Progressive tiredness
has followed and she presents to the emergency department for review. On further questioning
she admits to haemoptysis but her GP put this down to the infection. Urine examination reveals
the presence of blood and protein, and an admission creatinine is 342 micromol/l. She is
admitted to the renal ward, renal biopsy and staining reveals a linear pattern of
immunoglobulin G (IgG) deposition against the glomerular basement membrane.

What diagnosis fits best with this clinical picture?

Goodpastures syndrome
Your answer

HenochSchnlein purpura

IgA nephropathy

Membranous nephropathy

Wegeners granulomatosis
The microscopy and staining here reveals the presence of linear immunoglobulin G (IgG)
deposition (anti-GBM antibody). Goodpastures syndrome may present with asymptomatic
proteinuria or microscopic haematuria, acute nephritic syndrome, nephrotic syndrome or
chronic renal failure. Management of Goodpastures involves the use of combination
cytotoxic therapy and corticosteroids. Severe pulmonary haemorrhage responds to plasma
exchange, which can be conducted in a number of specialist immunology units. Recurrent
Goodpastures may occur in response to repeated viral infections.
Next question

Which of the following may be useful in the diagnosis of a swollen joint in a child but no
other features suggestive of mixed connective tissue disorders?
Incorrect
Factor IX assay True False

Incorrect
Serum C3 level True False

Correct
C reactive protein True False

Incorrect
Anti-double stranded DNA antibody level True False

Incorrect
Isotope bone scan True False

Occasionally a child with undiagnosed haemophilia may present with a joint effusion; the
joint aspirate is usually bloody. Marked elevation of the C-reactive protein level
(particularly with a less elevated ESR) may indicate a possible infectious cause for the joint
swelling. It is also elevated in inflammatory causes often in concert with the ESR. An
isotope bone scan may help to define an associated malignancy or infection in bone which
is causing sympathetic effusion in a nearby joint. It may also help to define the presence
of definite synovitis in cases of brief or episodic joint swelling. Serum C3 depression and a
rise in anti-dsDNA antibodies occur in SLE but usually only when widespread systemic
disease is present, especially renal or CNS involvement. Joint disease is usually
polyarticular and not specifically associated with changes in C3 or anti-dsDNA antibodies.

Incorrect
An 8-year-old boy presents with a one-day history of colicky abdominal pain and painful knees
and ankles.
He has a purple rash below both knees. The best next step would be:

Abdominal X-ray to exclude intussusception


Your answer

Ibuprofen to control joint pain

X-Ray knees and ankles

Urine dipstick
Correct answer

Trial of prednisolone

This history suggests Henoch Schnlein Purpura. Since 70% of affected children will have
some degree of renal involvement (usually microscopic haematuria +/- proteinuria) urine
dipstick is important, as is blood pressure measurement. Intussusception is associated with
HSP but this is clearly not the most important thing to investigate at this stage of the
illness. Ibuprofen is contraindicated due to the risk of renal disease. Prednisolone is used
in severe cases, but diagnosis needs to be established first.
Next question

Correct
The mother of a 12-year-old boy with ulcerative colitis asks about her sons risk of
developing joint disease. You tell her:

If he is positive for IgM rheumatoid factor, he has a high risk of developing


arthritis

If he is positive for antinuclear antibodies, he has a high risk of developing


arthritis

His risk of having joint problems is increased when disease is active


Your
answer
Prognosis for peripheral arthritis is relatively poor

If he is positive for HLA-B27, he is more likely to get peripheral joint


disease.

Two types of arthritis occur in IBD; peripheral arthritis which carries a very good prognosis
and normally involves few joints, and spondylitic arthritis. HLA-B27 is strongly correlated
with the spondylitic type. ANA and RF are negative. Peripheral arthritis disease activity
correlates with bowel disease activity.
Next question

Which are true regarding arthritis in childhood?

Incorrect
Rheumatoid factor is usually raised in poly arthritic disease True False

Correct
There may be fever preceding joint symptoms by several months in
Juvenile Chronic arthritis True False

Correct
Iridocyclitis is most common in pauciarticular disease True False

Incorrect
Incidence is three times more common in girls True False

Incorrect
Immunoglobulins are frequently raised True False

The most common age of onset of the disease is under 5 years, but it can occur throughout
childhood. Boys are affected as frequently as girls. The children are toxic and irritable
usually with swinging fever. Splenomegaly and general lymphadenopathy are almost
invariably present but arthritis may often be delayed for weeks or even months.

Laboratory findings in systemic onset JCA are nonspecific. The WBC count is high (about 25
000/mm3) and there is a neutrophil leukocytosis. The platelet count may also be high with
counts around 750 000/mm3. Anaemia is also present in the acute phase but it resolves as
the disease activity is brought under control. The ESR is usually markedly raised, as are
other acute phase reactants (CRP). Rheumatoid factor is almost always absent in the serum
and to find antinuclear antibody in this subtype is rare. The immunoglobulins (IgG, IgA, and
IgM) are frequently raised.

The overall incidence of chronic iridocyclitis is 10% but in the pauciarticular type it is much
higher. Iridocyclitis is not seen during the systemic phase of the illness but can develop
later in a few cases especially if the child develops antinuclear antibodies.

Next question
Incorrect
A 17-year-old presents complaining of a 10-day history of low back pain and stiffness that is
worse in the morning and relieved by exercise.

Which of the following investigative findings would be most likely to be found on an X-ray
of the lower spine?

Blurring of the upper and/or lower vertebral rims at the thoracolumbar


junction
Correct
answer
Sclerosis of the sacroiliac joints

Presence of syndesmophytes

Fusion of spinal facet joints


Your answer
Calcification of intervertebral ligaments

This patient most probably has ankylosing spondylitis. The earliest radiological appearances
in the spine are blurring of the upper and/or lower vertebral rims at the thoracolumbar
junction (best seen on a lateral X-ray). This is caused by an enthesitis at the insertion of
the intervertebral ligaments. Persistent enthesitis causes bony spurs (syndesmophytes).
Fusion and sclerosis of the sacroiliac joints and calcification of intervertebral ligaments
occur at a later stage.

Incorrect
A 5-year-old girl presents with pain in both knees and redness and pain in both eyes.
Rheumatoid factor is negative but antinuclear antibody tests are positive.

What is the most probable diagnosis?

Extended oligoarthritis

Polyarticular juvenile idiopathic arthritis

Systemic arthritis
Your answer
Persistent oligoarthritis
Correct answer
Enthesitis-related arthritis

Persistent oligoarthritis is the most common form of juvenile idiopathic arthritis (JIA),
occurring in around 5060% of cases of JIA. Four or fewer joints are affected, especially the
knees, ankles and wrists. Girls, with a peak age incidence of 3 years, are mostly affected.
Uveitis is common in those with positive antinuclear antibodies.
Extended oligoarthritis is usually antinuclear antibody- and rheumatoid factor-negative.
Features of systemic arthritis (Stills disease) such a fever, lymphadenopathy and
hepatosplenomegaly are not seen in this case. Polyarticular JIA affects older girls (> 8 years
of age). Arthritis commonly involves the small joints of the hands, wrists, ankles and feet.
Enthesitis-related arthritis (juvenile spondyloarthropathy) usually affects teenage boys,
causing asymmetrical arthritis of the lower limb joints and acute anterior uveitis.

Correct
A 16-year-old GCSE student complains of low back pain radiating to the back of his legs. There
is no loss of sensation or movement. ESR is elevated and serum rheumatoid factor is negative.
X-ray of the spine shows anterior squaring of the vertebrae.

What could be the probable diagnosis?

Lumbar disc prolapse with sciatica

Rheumatoid arthritis

Spinal stenosis

Ankylosing spondylitis
Your answer
Pagets disease of bone

The findings are suggestive of ankylosing spondylitis. Sacroiliitis is often the first
abnormality with irregularity and loss of cortical margins, widening of the joint space and
subsequently marginal sclerosis, narrowing and fusion. Lateral views of the thoracolumbar
spine may show anterior squaring of the vertebrae owing to erosion and sclerosis of the
anterior corners and periostitis of the waist. Rheumatoid arthritis is more common in
women, with a peak onset in the fifth decade. It affects the peripheral joints (hips, knees,
hands and feet). There is a reduction in the joint space in cases of lumbar disc prolapse
with sciatica and spinal stenosis. The latter is a disorder of older age and commonly
presents with pseudoclaudication, ie discomfort or pain in the legs on walking that is
relieved by rest and bending forwards. Pagets disease is seldom diagnosed before the age
of 40 years. The classic presentation is with bone pain, bone deformity, deafness and
pathological fractures. Diagnosis is established by the finding of a raised serum alkaline
phosphatase level but normal liver function tests.

Next question

A two-year-old boy presented with bone pain and discrete osteolytic foci were identified on
X-ray. Which diagnoses should be considered?

Correct
Dietary rickets True False
Correct
Histiocytosis True False

Incorrect
Multiple myeloma True False

Correct
Osteopetrosis True False

Correct
Scurvy True False

The Histiocytosis X forms - Eosinophilic granuloma of the bone and Hand Schuller Christian
disease both have bony involvement and have osteolytic lesions often in the skull , long
bones spine and pelvis. Dietary rickets produces characteristic changes with splaying of the
metaphyseal regions and bowing of long bones and a ricketic rosary while Scurvy also
produces changes to the long bones with sub periosteal haemorrhages and fractures may
occur. Multiple myeloma produces osteolytic lesions in the bones but does not occur in 2-
Next question
year-olds, while in osteopetrosis there are dense bones.

In systemic onset juvenile chronic arthritis typical clinical features include:

Correct
Leucocytosis True False

Correct
Pericarditis True False

Incorrect
Early onset of arthritis True False

Correct
The presence of anti-nuclear antibodies True False
Incorrect
Raynauds phenomenon True False

Leucocytosis is typical of systemic onset JCA and counts may be as high as 25-30, 000 in
some patients. A low or low normal White Blood Cell count may indicate bone marrow
pathology such as malignancy as the true underlying diagnosis particularly if
thrombocytopaenia is also present. Pericarditis is common at onset or during disease flares
in systemic onset JCA. Though severe and symptomatic in some, in many patients it is
clinically inapparent, detected on auscultation or by echocardiogram. Arthritis is present
at onset in many patients and develops in others over the subsequent weeks or even
months. Antinuclear antibodies (ANA) are very rarely seen in systemic onset JCA and are
much more typical of the pauciarticular onset type of JCA. Raynauds phenomenon is
uncommon in systemic onset JCA and is characteristic of systemic lupus erythematosis or
other vasculitides.

Next question

Correct
A 6-year-old girl presents with cold, painful lower extremities. On examination she is found to
have a blood pressure of 180/120 mmHg in her right and left arms. The femoral pulse is found
to be weak and the blood pressure in her lower limbs is 80/60 mmHg. An X-ray of the chest
shows notching of the ribs along their lower borders.

What is the most likely diagnosis?

Femoral artery thrombosis

Coarctation of the aorta


Your answer
Raynauds disease

Takayasus arteritis

Cervical rib

The features are characteristic of coarctation of the aorta. Most patients are asymptomatic.
Notching of the ribs is due to an increased collateral circulation.

Femoral artery thrombosis is usually unilateral and is unusual in this age group in the
absence of a predisposing factor.

Raynauds disease is the occurrence of Raynauds phenomenon in the absence of any


underlying disorder. This occurs predominantly in young women.
Takayasus arteritis is an idiopathic vasculitis that affects the first few centimetres of the
innominate, carotid and subclavian arteries with the adjacent portion of the aorta. The
typical patient is a woman between the ages of 20 and 40 years. Peripheral pulses, in the
upper and lower limbs, may be weak or absent. Involvement of the eyes and central
nervous and cardiovascular systems produce characteristic symptoms. Renal arteries are
frequently involved leading to hypertension.

A cervical rib may cause pain and numbness in the hand or forearm with weakness and
muscle wasting. The radial pulse may be weak and the forearm cyanosed. X-rays will show
the presence of the rib.
Next question

Correct
A 15-year-old girl presents with pain and swelling over her right knee that has progressively
worsened over the last 10 days. She is actively involved in sports and has recently been
selected for the national championships. Clinical examination reveals minimal swelling over the
tibial tubercle and an X-ray of the knee reveal no abnormality.

What is the most likely cause for her condition?

Osteochondritis dissecans

OsgoodSchlatters disease
Your answer
Infrapatellar bursitis

Torn meniscus

Torn anterior cruciate ligament

OsgoodSchlatters disease causes pain and swelling over the tibial tubercle. A traction
apophysitis of the patellar tendon, it is seen in sports players undergoing rigorous training.
Osteochondritis dissecans is more common in adolescent and young adult males. Locking or
giving way of the joint is seen in this condition. Swelling is not usually a feature.
Infrapatellar bursitis is caused by kneeling (housemaids knee). There is local pain,
tenderness and a fluctuant swelling. A twisting injury is a common history in meniscal
tears. There is immediate medial or lateral knee pain and a dramatic swelling within a few
hours. A torn anterior cruciate ligament allows the tibia to be pulled forwards on the femur
when the knee is flexed to 90.
Next question

Causes of polyarthritis include?

Correct
Rubella True False

Incorrect
Henoch Schnlein Purpura True False
Incorrect
Parvovirus True False

Correct
Chickenpox True False

Incorrect
Sickle cell anaemia True False

Next question

Correct
A 10-year-old girl presents with a high fever, rash and hip and knee joint pains. A slit-lamp
examination of her eyes is normal. Blood tests are negative for autoantibodies.

What is the most likely diagnosis?

Persistent oligoarthritis

Stills disease
Your answer
Polyarticular arthritis

Enthesitis-related arthritis

HenochSchnlein purpura

This girl has Stills disease (juvenile systemic arthritis). It accounts for 10% of all cases of
juvenile idiopathic arthritis and is seen more often in prepubertal girls with mono- or
polyarticular synovitis, often preceded by fevers, an evanescent pink maculopapular rash,
pericarditis, pneumonitis, lymphadenopathy and hepatosplenomegaly. Autoantibodies are
negative.
Persistent oligoarthritis is the most common form of juvenile idiopathic arthritis (JIA) (50
60%). It affects mainly very young girls who are about 3 years old. Uveitis (often with a
positive antinuclear antibody) occurs in this condition.

Polyarticular JIA is rheumatoid factor-positive. Initially the arthritis commonly involves the
small joints of the hands, wrists, ankles and feet. The rheumatoid factor-negative form is
commoner and usually affects girls under 12 years of age. They may be ANA-positive with a
risk of chronic uveitis. The arthritis is often asymmetrical with a distribution similar to that
seen in rheumatoid factor-positive cases.

Enthesitis-related arthritis affects teenage and younger boys, mainly producing an


asymmetrical arthritis of lower limb joints and enthesitis. It is associated with HLA-B27 and
a risk of acute anterior uveitis.

Henoch-Schnlein purpura is the commonest systemic vasculitis seen in children. It often


occurs after upper respiratory tract infections. Lower limb purpura, polyarthritis and
abdominal pain occur. Haematuria and proteinuria due to glomerulonephritis are seen in
50% of cases.
Next question

Incorrect
An 8-year-old boy presents with a 6-month history of gradually progressive swelling and pain
below the right knee. On examination, the knee joint appears normal. An X-ray shows a lytic
lesion with sclerotic margins in the upper tibial metaphysis.

What is the most probable diagnosis?

Osteogenic sarcoma
Your answer
Brodies abscess
Correct answer
Osteomyelitis

Osteoclastoma

Ewings sarcoma

Brodies abscess is a form of chronic osteomyelitis that arises insidiously. A localised


abscess is present within the bone, often near the site of the metaphysis. Deep boring
pain is often the predominant symptom. The X-ray is usually characteristic.

In patients with osteogenic sarcoma the X-ray typically shows a raised periosteum
(Codmans triangle) with evidence of new bone formation under the corners, and a sun-
ray appearance caused by well-marked radiating spicules of new bone within the tumour.
Chronic osteomyelitis is nearly always a sequel to acute osteomyelitis. The bone is
thickened and generally denser than normal. Sequestra are commonly present within
cavities in the bone. There may be a sinus track leading to the skin surface discharging pus.
X-ray shows thickened bone with irregular and patchy sclerosis that gives a honeycombed
appearance. Sequestra are seen as dense loose fragments lying within a cavity in the bone.

Osteoclastoma occurs most commonly in young adults aged 20-40 years. The X-ray shows a
soap-bubble appearance with no or minimal sclerosis.

Ewings sarcoma is a highly malignant tumour that arises in bone marrow. The tumour is
thus common in the shaft of the femur, tibia or humerus; it arises in the diaphysis rather
than the metaphysis of the bone. Radiographs show destruction of bone and concentric
layers of subperiosteal new bone (onion peel appearance).
Next question

Correct
An 8-year-old boy presents with a 6-month history of gradually progressive swelling and pain
below the right knee. On examination, the knee joint appears normal. An X-ray shows a lytic
lesion with sclerotic margins in the upper tibial metaphysis.

What is the most probable diagnosis?

Osteogenic sarcoma

Brodies abscess
Your answer
Osteomyelitis

Osteoclastoma

Ewings sarcoma

Brodies abscess is a form of chronic osteomyelitis that arises insidiously. A localised


abscess is present within the bone, often near the site of the metaphysis. Deep boring
pain is often the predominant symptom. The X-ray is usually characteristic.

In patients with osteogenic sarcoma the X-ray typically shows a raised periosteum
(Codmans triangle) with evidence of new bone formation under the corners, and a sun-
ray appearance caused by well-marked radiating spicules of new bone within the tumour.

Chronic osteomyelitis is nearly always a sequel to acute osteomyelitis. The bone is


thickened and generally denser than normal. Sequestra are commonly present within
cavities in the bone. There may be a sinus track leading to the skin surface discharging pus.
X-ray shows thickened bone with irregular and patchy sclerosis that gives a honeycombed
appearance. Sequestra are seen as dense loose fragments lying within a cavity in the bone.
Osteoclastoma occurs most commonly in young adults aged 20-40 years. The X-ray shows a
soap-bubble appearance with no or minimal sclerosis.

Ewings sarcoma is a highly malignant tumour that arises in bone marrow. The tumour is
thus common in the shaft of the femur, tibia or humerus; it arises in the diaphysis rather
than the metaphysis of the bone. Radiographs show destruction of bone and concentric
layers of subperiosteal new bone (onion peel appearance).
Next question

Correct
A 17-year-old presents with swelling of the face, hands and feet along with diffuse abdominal
pain. He gives a history of recurrent episodes since he was 10 years old, at a rate of 3-4 attacks
per year. Each episode would last 2-3 days. On examination swelling is observed at the above
mentioned sites but there was no evidence of urticaria. Family history reveals a history of
similar episodes in the mother since childhood and in the elder brother who died of respiratory
distress at the age of eight years during a similar attack.

Which one of the following tests would be considered MOST helpful in establishing the
diagnosis?

Eosinophil count in the blood

Prick (puncture) skin test

Radioallergosorbent test (RAST)

C1 esterase inhibitor (C1INH)


Your answer
IgE levels

Angioedema, characterised by non-pitting, erythematous swelling of soft tissues, can be


hereditary or acquired. Hereditary angioedema (HAE) is an autosomal dominant disease due
to mutations at C1 inhibitor gene. The defective gene does not produce sufficient levels of
C1 inhibitor in plasma which leads to auto-activation of C1 and consumption of C2 and C4.
It is further classified into type I (lower production of C1 inhibitor proteins) and type II
(functional defect of C1 inhibitor with normal plasma levels). Acquired angioedema may be
a manifestation of urticaria; it has recently been described with drugs such as angiotensin
converting enzyme (ACE) inhibitors. Hereditary angioedema is characterised by recurrent
selflimited attacks involving the skin, subcutaneous tissue, upper respiratory tract, or GI
tract. Attacks may last from several hours to 2-3 days. GI or upper respiratory tract attacks
may be precipitated by local trauma (e.g. dental procedures, tonsillectomy). Hereditary
angioedema is characterised by low levels of C1 esterase inhibitor (C1INH) or elevated
levels of dysfunctional C1 esterase inhibitor, as detected by an immune assay. Between
attacks, low levels of C4 are noted.

Next question
Correct
An 11-year-old Asian girl presents with a 2-week history of fever, joint pains, malaise and loss
of appetite. Swelling, redness and pain occurred in the left knee that lasted for 3 days and
then settled. This was followed by swelling, redness and pain in her left elbow for 4 days,
followed by similar symptoms in her right knee. At present she has a swollen tender right
ankle. No other abnormality is found on clinical examination.

What is the most likely diagnosis?

Stills disease

Rheumatic fever
Your answer
Polyarticular juvenile idiopathic arthritis

Childhood dermatomyositis

Familial Mediterranean fever

Rheumatic fever predominantly affects children aged 4-15 years as a result of Group A
streptococcal infection. It is common in the Middle and Far East and Asia as well as Eastern
Europe and South America. The arthritis is classically a fleeting migratory polyarthritis
affecting the large joints. Isolated arthritis is the presenting symptom in 15-40% of cases of
rheumatic fever.

In Stills disease, the arthritis is usually much more persistent in each affected joint. In
polyarticular juvenile idiopathic arthritis, small joints are initially involved. Fever does not
occur. Childhood dermatomyositis affects children between 4 and 10 years of age. The
typical rash of dermatomyositis is usually accompanied by muscle weakness. Fever and
joint pains do not usually occur. Familial Mediterranean fever is inherited as an autosomal-
recessive condition and occurs in certain ethnic groups - Arabs, Turks, Armenians and
Sephardim Jews. It is characterised by recurrent attacks of fever, arthritis and serositis.
Abdominal or chest pain due to peritonitis or pleurisy occurs.

Next question

(12690)

Incorrect
Concerning polyarticular JIA:

It carries a remission rate of up to 50%


Correct answer
Peak age of onset is 1-4 years

Diagnosis can sometimes be made on history and examination alone


Your answer

Hand involvement is common, especially distal interphalangeal joints

Eye disease is not a feature

Polyarticular JIA involves 5 or more joints. It has a moderate prognosis, with remission
rates quoted as 20-50%. Peak age of onset is 1-6 years (1-4 years is oligoarticular JIA).
Diagnosis depends on excluding other causes for symptoms, including malignancy, therefore
history and examination alone is not sufficient. Hand involvement is common, but the DIP
joints tend to be spared. Eye disease does occur in those patients who are positive for
ANA.

Correct
You are called to see a 14-year-old boy who has had a fever of unknown origin for the last 7
days. He also complains of redness of both eyes, redness and dryness of his lips and neck
swelling. He had a rash on his trunk that disappeared 2 days ago. On examination he has
cervical lymphadenopathy and his palms and soles are red and oedematous.

Given the suspected diagnosis, what would be the most appropriate therapy?

Intravenous steroids

Topical steroids

Aspirin and intravenous immunoglobulins


Your answer
Protease inhibitors

Erythromycin

Combination therapy with intravenous immunoglobulin (IVIG) and aspirin during the acute
phase of Kawasaki disease produces a more marked anti-inflammatory effect and reduction
in coronary artery abnormalities than does aspirin alone. It is recommended that patients
with acute disease be treated with a single 2 g/kg infusion of IVIG and aspirin (3050 mg/kg
per day) within the first 10 days from onset, and that the aspirin dose be reduced to 3
5 mg/kg per day, given as a single daily dose, after the temperature has normalised.

Aspirin is discontinued if no coronary abnormalities have been detected on an


echocardiogram by 68 weeks after the onset of illness, but continued if coronary artery
abnormalities are present.
Next question

Correct
A 17-year-old presents complaining of a 10-day history of low back pain and stiffness that is
worse in the morning and relieved by exercise.

Which of the following investigative findings would be most likely to be found on an X-ray
of the lower spine?

Blurring of the upper and/or lower vertebral rims at the thoracolumbar


junction Your answer

Sclerosis of the sacroiliac joints

Presence of syndesmophytes

Fusion of spinal facet joints

Calcification of intervertebral ligaments

This patient most probably has ankylosing spondylitis. The earliest radiological appearances
in the spine are blurring of the upper and/or lower vertebral rims at the thoracolumbar
junction (best seen on a lateral X-ray). This is caused by an enthesitis at the insertion of
the intervertebral ligaments. Persistent enthesitis causes bony spurs (syndesmophytes).
Fusion and sclerosis of the sacroiliac joints and calcification of intervertebral ligaments
occur at a later stage.

Correct
A 16-year-old complains he has had pain in his abdomen, knee and elbow for the last 7 days. He
had an upper respiratory tract infection four weeks ago. He also has a rash on his buttocks and
lower limbs.

What is the diagnosis?

HenochSchnlein purpura
Your answer
Enteropathic arthritis

Reactive arthritis

Viral arthritis

Sarcoidosis
Enteropathic arthritis is associated with ulcerative colitis and Crohns disease. Henoch
Schnlein purpura is characterised by abdominal pain and arthritis, and may follow an
upper respiratory tract infection. Non-thrombocytopenic purpura occurs over the buttocks
and legs. Intussusception, rectal bleeding and renal involvement can also occur.
Next question

Marfans syndrome is associated with which of the following?

Risk of aortic dissection True False

Hypercalcaemia True False

50% spontaneous mutation rate True False

Dislocation of the lens True False

Genetic anticipation True False

Submit answ er

Marfans syndrome is associated with which of the following?

Correct
Risk of aortic dissection True False

Correct
Hypercalcaemia True False

Incorrect
50% spontaneous mutation rate True False

Correct
Dislocation of the lens True False

Incorrect
Genetic anticipation True False

New mutations occur in only 15% of patients with Marfans. The fibrillin gene is on
chromosome 15q. Genetic anticipation is the worsening of a condition in successive
generations (e.g. Huntingdon's, myotonic dystrophy, fragile X).

Correct
A 5-year-old Asian boy, who has been having episodes of fever and a persistent cough for the
past 3 weeks, now complains of right hip pain. Blood tests show: WCC 19 109 /l, ESR 110
mm/1st h and CRP 102 mg/l. An X-ray of the hip joint shows diffuse rarefaction.

What is the most likely diagnosis?

Septic arthritis

Tuberculous arthritis
Your answer
Osteomyelitis

Reactive arthritis

Juvenile rheumatoid arthritis

The history and investigations are suggestive of tuberculous arthritis. Tuberculous arthritis
usually affects children aged 25 years. The hip is one of the most frequently affected
joints. Early X-ray signs are rarefaction of bone. Subsequently there is fuzziness of the
joint margins and narrowing of the joint space. The white cell count, erythrocyte
sedimentation rate and C-reactive protein levels are usually high.

Pyogenic arthritis of the hip is uncommon. A hot, painful, swollen joint usually accompanies
this condition. Early X-rays are usually normal.
The distal femur or upper tibia is the common site for osteomyelitis. X-ray changes are not
apparent for a few days but then show haziness and loss of density of the affected bone
followed by subperiosteal reaction and, later, sequestrum and involucrum.

Reactive arthritis usually affects young adults and follows 46 weeks after genitourinary
(chlamydial) or gastrointestinal (shigella, yersinia) infection. X-rays may show puffy
periostitis at ligamentous insertions in the initial stages.

Stills disease (juvenile rheumatoid arthritis) occurs chiefly in prepubertal girls with mono-
or polyarticular synovitis with erosion of cartilage, often preceded by fevers, iridocyclitis,
pneumonitis, lymphadenopathy and splenomegaly. Early X-rays are usually normal in Stills
disease.
Next question

A. Systemic-onset JIA
B. Systemic Lupus Erythematosus
C. Malaria
D. Reactive arthritis
E. ALL
F. Polyarteritis Nodosa
G. Fibromyalgia
H. Kawasaki Disease
I. Juvenile spondyloarthropathy

For each choose the most likely diagnosis:

Scenario 1

Correct
A 3-year-old girl presents with a seven-day history of temperature up to 39.8o C, and
weight loss. She complains of generalised joint pain, but has no joint swelling. She has a
flexural rash, which comes and goes with the fever. Blood results show Hb 9.8 g/dL, Plt
700 x 10 9, CRP 125.

A Correct answer
Systemic onset JIA
Systemic-onset JIA often presents with high fever, general malaise, anorexia and
weight loss. The salmon-pink rash which coincides with the height of the fever is
characteristic and may only be present in the axillae/flexures. Although the child
often complains of generalised aches and pains, there is often no arthritis at
presentation. It tends to occur more often in younger children.

Scenario 2

Correct
A 7-year-old girl presents with a month-long history of temperature up to 38 o C and
weight loss. She has been quieter than normal over the past two months and has
complained of a sore throat frequently. She has received two courses of oral antibiotics
for presumed throat infections. She has dropped from the 25th to the 9th centile in weight.
She complains of pain in both legs. She has a widespread petechial rash. Blood results
show Hb 8.2 g/dL, WBC 15 x 10 9, Plt 20 x 10 9 .
E Correct answer
ALL
Lymphoproliferative disease often has an insidious onset, where the child is
generally under the weather for several weeks. It can present with any number of
symptoms, resulting from infiltration of the bone marrow or other organs with
leukaemic blast cells. These include, malaise, lethargy, weight loss, abnormal
bruising and bone pain.

Scenario 3

Incorrect
A 10-year-old girl presents with a 2-week history of temperature up to 39 o C and painful
swollen wrists. She has a facial rash and her mother says she keeps talking to people who
arent there. Blood results show Hb 9.0 g/dL, WBC 12 x 10 9, Plt 700 x 10 9,
Reticulocytes 250, CRP 150.

H Your answer
B Correct answer
Systemic lupus erythematosus

SLE is rare below 8 years of age, but some 20% of patients present before the
second decade. It has a number of diagnostic criteria, as outlined below:

Skin

Malar rash

Naso-oral ulcers

Photosensitivity rash

Discoid rash (rare in children)

Systemic

Arthritis

Pleuritis or pericarditis

Proteinuria or evidence of nephritis on dipstick

Haemolytic anaemia, thrombocytopenia, leukopaenia, or lymphopaenia


Seizure or psychosis

Laboratory

Positive ANA

Positive antidouble-stranded DNA,or antiphospholipid antibody


Next question

Correct
A 5-year-old girl presents with pain in both knees and redness and pain in both eyes.
Rheumatoid factor is negative but antinuclear antibody tests are positive.

What is the most probable diagnosis?

Extended oligoarthritis

Polyarticular juvenile idiopathic arthritis

Systemic arthritis

Persistent oligoarthritis
Your answer
Enthesitis-related arthritis

Persistent oligoarthritis is the most common form of juvenile idiopathic arthritis (JIA),
occurring in around 5060% of cases of JIA. Four or fewer joints are affected, especially the
knees, ankles and wrists. Girls, with a peak age incidence of 3 years, are mostly affected.
Uveitis is common in those with positive antinuclear antibodies.

Extended oligoarthritis is usually antinuclear antibody- and rheumatoid factor-negative.


Features of systemic arthritis (Stills disease) such a fever, lymphadenopathy and
hepatosplenomegaly are not seen in this case. Polyarticular JIA affects older girls (> 8 years
of age). Arthritis commonly involves the small joints of the hands, wrists, ankles and feet.
Enthesitis-related arthritis (juvenile spondyloarthropathy) usually affects teenage boys,
causing asymmetrical arthritis of the lower limb joints and acute anterior uveitis.

n systemic onset juvenile chronic arthritis typical clinical features include which of the
following?

Correct
Leucocytosis True False
Correct
Pericarditis True False

Correct
Early onset of arthritis True False

Correct
The presence of anti-nuclear antibodies True False

Correct
Raynauds phenomenon True False

Leucocytosis is typical of systemic onset JCA and counts may be as high as 25-30, 000 in
some patients. A low or low normal White Blood Cell count may indicate bone marrow
pathology such as malignancy as the true underlying diagnosis particularly if
thrombocytopaenia is also present. Pericarditis is common at onset or during disease flares
in systemic onset JCA. Though severe and symptomatic in some, in many patients it is
clinically inapparent, detected on auscultation or by echocardiogram. Arthritis is present
at onset in many patients and develops in others over the subsequent weeks or even
months. Antinuclear antibodies (ANA) are very rarely seen in systemic onset JCA and are
much more typical of the pauciarticular onset type of JCA. Raynauds phenomenon is
uncommon in systemic onset JCA and is characteristic of systemic lupus erythematosus or
Next question
other vasculitides.

Correct
A 5-year-old girl complains of progressively increasing severe pain in her left hip and upper leg
for the last week. She is able to walk with a limp. On examination there is extreme tenderness
over the upper thigh. The hip joint is not swollen. Blood tests show: WCC 18 109 /l, ESR 87
mm/1st h and CRP 110 mg/l. X-rays and ultrasound scans of the hip are normal.

What is the most probable diagnosis?

Osteomyelitis
Your answer
Septic arthritis

Ewings tumour

Lumbar disc prolapse


Perthes disease

This girl has osteomyelitis of the femur. X-ray changes are not apparent for a few days but
then show haziness and loss of density of the affected bone followed by subperiosteal
reaction and, later, sequestrum and involucrum. A hot, painful, swollen joint usually
accompanies septic arthritis.

Ewings tumour is a malignant sarcoma found most commonly in the diaphysis of long bones
in children. Pain and swelling of the affected bone are characteristic features. X-rays show
destruction and concentric layers of new bone formation.

A lumbar disc prolapse presents with pain in the lower back that may radiate into a buttock
or down the leg. White cell counts, erythrocyte sedimentation rate (ESR) and C-reactive
protein (CRP) levels would be normal in this condition.

Perthes disease is osteochondritis of the epiphysis of the femoral head. Early X-rays show
widening of the joint space. Later there is a decrease in the size of the nuclear femoral
head with patchy density. The white cell count, ESR and CRP levels are unaffected.

Which of the following conditions have epiphyseal changes which are visible on X rays?

Correct
Rickets True False

Incorrect
Vitamin C deficiency True False

Incorrect
Marfans syndrome True False

Incorrect
Cystic fibrosis True False

Correct
Diabetes insipidus True False

Long-bone changes are good clinical identifiers of vitamin C deficiency. The epiphyses and
periosteum also become easily detachable because of haemorrhage below the periosteum.
Separation of the metaphyseal plate from the diaphysis, epiphyseal clefts, and
malalignment of the metaphysis may occur.

Next question
Correct
An 8-year-old boy presents with a one-day history of colicky abdominal pain and painful knees
and ankles.

He has a purple rash below both knees. The best next step would be:

Abdominal X-ray to exclude intussusception

Ibuprofen to control joint pain

X-Ray knees and ankles

Urine dipstick
Your answer

Trial of prednisolone

This history suggests Henoch Schnlein Purpura. Since 70% of affected children will have
some degree of renal involvement (usually microscopic haematuria +/- proteinuria) urine
dipstick is important, as is blood pressure measurement. Intussusception is associated with
HSP but this is clearly not the most important thing to investigate at this stage of the
illness. Ibuprofen is contraindicated due to the risk of renal disease. Prednisolone is used
in severe cases, but diagnosis needs to be established first.

Next question
Correct
Concerning polyarticular JIA:

It carries a remission rate of up to 50%


Your answer
Peak age of onset is 1-4 years

Diagnosis can sometimes be made on history and examination alone

Hand involvement is common, especially distal interphalangeal joints

Eye disease is not a feature


Polyarticular JIA involves 5 or more joints. It has a moderate prognosis, with remission
rates quoted as 20-50%. Peak age of onset is 1-6 years (1-4 years is oligoarticular JIA).
Diagnosis depends on excluding other causes for symptoms, including malignancy, therefore
history and examination alone is not sufficient. Hand involvement is common, but the DIP
joints tend to be spared. Eye disease does occur in those patients who are positive for
ANA.

Next question

A. Slipped Upper Femoral Epiphysis


B. Transient synovitis
C. Developmental Dysplasia of the Hip
D. Juvenile Idiopathic Arthritis
E. Perthes Disease
F. Osgood Schlatter Disease
G. Septic Arthritis
H. Acute Lymphoblastic Leukaemia
I. Enthesitis-related arthritis

For each choose the most likely diagnosis:

Scenario 1

Incorrect
A 2-year-old boy presents with gradual onset of limp and reluctance to bear weight on his
left leg. His temperature is 37.5 o C, he feeds well and is otherwise happy. Passive
movement at the left hip elicits no obvious pain, and range of movement is intact.

B Your answer
E Correct answer
Perthes disease
Perthes Disease is due to ischaemia of the femoral epiphysis. This leads to avascular
necrosis of the femoral head, followed by eventual revascularisation. It affects boys
predominantly (5:1 male:female) and it has an insidious onset. Children present
with limp or hip pain.

Scenario 2

Correct
A 2-year-old boy presents with sudden onset of limp and reluctance to bear weight on his
left leg. His temperature is 37.5 o C, he has a runny nose, and his mother says he is getting
over a dose of flu. There is decreased range of movement in all planes at the left hip.

B Correct answer
Transient synovitis
Transient Synovitis (irritable hip) often presents after a viral infection. Parents often
give a history of the child going to bed as normal, then waking up and refusing to
walk on the affected leg.

Scenario 3

Correct
A 2-year-old boy presents with sudden onset of limp and reluctance to weight bear on his
left leg. His temperature is 38.5 o C, despite antipyretics, he is listless and reluctant to
feed. He cries in pain at rest, despite paracetamol and ibuprofen. He had chicken pox a
week ago, and his mother says he scratched a lot and some of the lesions still havent
healed.

G Correct answer
Septic arthritis
A child with septic arthritis will be clearly unwell, with a fever. The affected joint is
extremely painful, even at rest or on minimal movement, and examination will be
difficult. It may occur following trauma, e.g an infected puncture wound, or infected
chicken pox lesions.
Next question

Correct
A 14-year-old boy with left groin pain for the past 6 weeks is noted to be standing with his left
leg externally rotated. Examination reveals negligible internal rotation of the hip.

What is the most likely diagnosis?

Congenital dislocation of the hip

Juvenile rheumatoid arthritis

Perthes disease

Slipped upper femoral epiphysis


Your answer
Osteogenic sarcoma

Slipped upper femoral epiphysis affects children aged 1016 years. Some 20% of cases are
bilateral. About half the patients are obese and hypogonadal. On examination flexion,
adduction and medial rotation are limited.

Congenital dislocation of the hips is seen in neonates. Girls are more commonly affected
than boys. If not detected in infancy, older children may present with delay in walking, an
abnormal waddling gait and an inability to fully abduct the affected hip.

Stills disease (juvenile rheumatoid arthritis) occurs chiefly in prepubertal girls with mono-
or polyarticular synovitis with erosion of cartilage, often preceded by fevers, iridocyclitis,
pneumonitis, lymphadenopathy and splenomegaly. It accounts for 10% of all cases of
juvenile chronic arthritis.

Perthes disease is osteochondritis of the femoral head, affecting children between 3 and
11 years of age. It presents with pain in the hip or knee and causes a limp. On examination
all movements at the hip are limited.

Osteogenic sarcoma is predominantly a tumour of childhood or early adult life. The


commonest sites are the lower end of the femur, the upper end of the tibia and the upper
end of the humerus. Local pain and swelling are characteristic clinical features. Movements
are usually not affected in the early stages.

Next question