Extended matching questions
Delayed walking in young children
A. Developmental dysplasia of the Hip
B. Diplegic cerebral palsy
C. Normal child
D. Global developmental delay
E. Quadraplegic cerebral palsy
F. Duchenne muscular dystrophy
G. Hemiplegic cerebral palsy
H. Spinal cord tumour
I Spinal muscular atrophy type 1
Lead in:
The following histories all describe 18 month old children who are not walking. What
is the most likely diagnosis for each one?
1. Jack has never walked but has crawled everywhere since the age of 1 year. He
loves building towers of bricks and is saying 4-5 words. On examination he has equal
skin creases at his hips, and a normal range of movement in his lower limbs. He hates
being examined so power and reflexes are difficult to assess but appear normal and
equal bilaterally in all four limbs.
2. Richard has just started to crawl. He is saying mama and dada and plays peek-aboo. He grasps objects and likes putting things in his mouth but is not yet feeding
himself. On examination he has reduced muscle tone but a normal range of movement
at his hips. Reflexes and power are normal on examination.
3. Petra has never walked but bottom shuffles quickly around the room. She loves
making animal noises and can say about 20 words. She can build a tower of 3 bricks
and mum says that she likes to help with the housework. On examination she has
equal skin creases at his hips, and a normal range of movement in his lower limbs.
Power and reflexes appears normal and equal bilaterally in all four limbs.
4. James was born prematurely at 26 weeks. He was discharged at 3 months of age
and his mother feels that he has been progressing well since then. He has just started
to “bottom shuffle” and is messily feeding himself and drinking from a cup. He can
say 10 words and points to his nose when asked. On examination he has equal skin
creases at his hips but the range of movement of his lower limbs is reduced. He has
brisk reflexes in his legs but his arms appear normal.
5. Jody started to crawl 4 months ago. She likes playing with bricks and her mother
comments proudly that she is going to be left handed like her father. She is saying
about 20 words and enjoys feeding herself at mealtimes. She had a normal
examination of all her limbs and hips, although she has brisker reflexes in her right
arm and leg when compared to the left.
6. Fred is crawling, is able to cruise around the furniture but is not yet walking. He
can build a tower of 3 bricks and is saying 15-20 words. He can hold a spoon and
feeds himself at mealtimes. On examination he has unequal skin creases at his hips,
and a reduced abduction of his right hip. Power and reflexes appears normal and equal
bilaterally in all four limbs.
7. Andrew is not yet crawling. He started to sit unsupported a few months ago and
likes to roll around the floor. He will reach out for objects but finds it difficult to grab
hold of them. He says mama and points at his drink is when is thirsty. He cannot feed
himself and is dribbling a great deal. On examination he has equal skin creases at his
hips, but his legs appear “stiff” and it is difficult to abduct his legs at his hips.
Reflexes are brisk in all four limbs.
Answers
FDCBGAE
Cerebral Palsy
Options:
A. Diplegic cerebral palsy
B. Hemiplegic cerebral palsy
C. Quadriplegic cerebral palsy
D. Ataxic cerebral palsy
E. Dyskinetic cerebral palsy
F. Mixed cerebral palsy (ataxic
diplegia)
For each child with cerebral palsy, select the correct diagnostic category.
1. A two year old boy has been walking for three months. He was born at 26weeks
gestation weighing 950g. His walking remains precarious and unsteady. He can say
ten words and points to his nose when asked. On examination he stands with hips and
knees flexed, taking his weight on his toes. His legs tend to cross when walking. He
has limited abduction of his hips and down-pointing feet. He has brisk reflexes in his
legs but tone, power, co-ordination and reflexes are normal.
2. An 18 month old girl has just started to take her first steps, and is noted to be
unable to straighten her right leg or put her right foot flat on the ground. Her birth and
perinatal history were normal. It has also been observed that she is left handed, and
tends to hold her right arm flexed at the elbow with her right hand clenched.
Examination reveals decreased power, increased tone and brisk reflexes in the right
arm and leg.
3. A 12 month old girl has had feeding problems since birth, and intermittently
requires nasogastric feeding. She was born at term weighing 3500g but developed
hypoxic-ischaemic encephalopathy following birth asphyxia. She is unable to sit or
crawl and makes only unintelligible sounds. Examination reveals microcephaly,
impaired swallowing and spasticity and hypereflexia in all four limbs.
4. The parents of a 20 month old boy are concerned that he is clumsy and unsteady,
particularly when sitting and reaching for objects. Birth history was normal. He
cannot yet walk independently but with support walks with a wide-based gait. He can
say a few words but his speech is unclear. On examination, his head circumference is
above the 97th centile. Tone and reflexes are normal in all four limbs, but he is unable
to grasp a small toy placed in front of him.
5. A ten month old boy was previously noted to have generalised hypotonia with few
voluntary movements, but now has episode where he is rarely still, making writhing
movements with his limbs and trunk. He was born at 32 weeks gestation weighing
1400g. He developed jaundice, with a peak serum bilirubin of 400μmol/l at day four.
He has subsequently had recurrent feeding problems, with vomiting and regurgitation.
On examination, his resting muscle tone and reflexes appeared normal, although any
handling provoked an increase in tone.
6. A 12 month old girl was noted to have generalised hypotonia until the age of three
months, after which her legs became stiff. She was born at 28 weeks and developed
hydrocephalus following an intraventricular haemorrhage. Her balance now seems
very poor and she is unable to stand or sit unsupported. On examination she has poor
coordination in her upper limbs with an obvious intention tremor when reaching for
objects. Tone and reflexes are normal in her upper limbs but her lower limbs are
hypertonic and hypereflexic, and she has bilateral equinovarus.
Answers
ABCDEF
Epilepsy syndromes
Options:
G. Childhood absence epilepsy
H. Juvenile myoclonic epilepsy
I. Infantile spasms
J. Sturge-Weber syndrome
K. Benign childhood epilepsy with
centrotemporal spikes (benign
rolandic epilepsy)
L. Fragile X syndrome
M. Neuronal ceroid lipofuscinosis
(Batten disease)
N. Benign familial neonatal
convulsions
1. An eight year old boy with consanguineous parents has progressively deteriorating
vision and epilepsy. Seizures are predominantly myoclonic but generalised tonicclonic seizures have occurred. Examination reveals optic atrophy and ataxia.
2. A 13 year old girl has developed brief jerks of her shoulders and arms, which
sometimes occur in runs, and usually occur soon after waking up. At times, these have
caused her to drop objects and even throw a glass of water over her older brother. She
says she is unable to control these jerks but remains awake and alert throughout. She
is otherwise well and has no problems at school.
3. A 6 month old boy has a large birth mark over his right cheek and forehead. He has
recently developed seizures, predominantly affecting the left side of his body but
often becoming generalised. He is now using his left arm much less than his right and
has stopped babbling.
4. A 7 year old girl has been noticed to have episodes of losing her concentration and
staring blankly. These last for about five seconds and she then resumes her previous
activity. These episodes are occurring 7 or 8 times per day. Her teachers have
commented that her school performance has deteriorated. Examination is normal.
5. A 7 year old girl has developed nocturnal seizures. On each occasion her mother
has heard grunting, gurgling noises from her child’s bed, and found her drooling and
unable to speak, with her mouth drawn to one side. This recovers after a couple of
minutes, and the girl reports a feeling of numbness and tingling in her cheek at the
onset of the episode.
6. A 6 month old boy has developed episodes of flexion of his neck, arms and legs
lasting for 1-2 seconds. He lifts his head, raises both arms forward and flexes his legs
at the hips. These initially occurred two or three times each day but now occur in runs
of 10-15. His parents have also noted that he has become less visually and socially
interactive.
7. A seven year old boy has marked speech and language delay, hyperactivity and a
short attention span. He has recently developed epilepsy consisting of both
generalised and partial seizures. On examination he is noted to have
machroorchidism, large ears and a narrow face.
8. An otherwise well 3 day old baby has developed brief generalised tonic-clonic
convulsions lasting a few seconds. His father apparently suffered similar convusions
when he was a baby which resolved by 3 weeks of age. On examination the baby
appears well with no evidence of infection or neurological abnormalities.
Answers
GBDAECFH
Childhood Immunisation Protocols
A BCG
G Typhoid
B Diphtheria, Tetanus and Polio (DTP)
H Yellow fever
C Hepatitis B
I
MMR & DTP
D Meningitis C
J
Hepatitis A
E Mumps measles rubella (MMR)
K Influenza
F Polio
For each of the questions below, choose the single most appropriate answer from the
list of options above.
1. Which vaccine is given at approximately 1 year?
2. What vaccine is repeated aged 3-4 years?
3. Which vaccine has been linked in the non-medical press to bowel disorders?
4. What vaccine is given shortly after birth in parts of central London?
5. What vaccine is given if mother is positive for the disease?
6. What vaccine should not be given under 15-months of age?
7. Which vaccine is easily transmitted to mother when handling nappies?
ANSWERS
AIEACGF
Theme: Fits, faints, funny turns
A Absence seizure
B Myoclonic seizure
C Simple partial seizure
D Complex partial seizure
E Generalised tonic clonic seizure
F Infantile spasms
G Febrile convulsion
H Breath holding attack
I Vasovagal episode
J Rigor
For each patient, select the most likely nature of the episodes described.
1 A 6 month old boy has developed episodes of flexion of his neck, arms and legs
lasting for 1-2 seconds. He lifts his head, raises both arms forward and flexes his legs
at the hips. These initially occurred two or three times each day but now occur in runs
of 10-15. His parents have also noted that he has become less visually and socially
interactive.
2 A 13 year old girl has developed brief jerks of her shoulders and arms, which
sometimes occur in runs, and usually occur soon after waking up. At times, these have
caused her to drop objects and even throw a glass of water over her older brother. She
says she is unable to control these jerks but remains awake and alert throughout. She
is otherwise well and has no problems at school.
3 A 7 year old girl has been noticed to have episodes of losing her concentration and
staring blankly. These last for about five seconds and she then resumes her previous
activity. These episodes are occurring 7 or 8 times per day. Her teachers have
commented that her school performance has deteriorated. Examination is normal.
4 A 15 month old girl has developed episode of becoming limp, blue around the lips
and unresponsive. These always occur when she is upset and crying, except for one
episode which occured when she was being tickled by her elder brother. She usually
recovers after a few seconds, but on a couple of occasions has remained unconscious
for about 30 seconds and her mother has noticed some brief jerking movements of her
arms.
5 An 8 year old boy has developed episodes of ‘odd’ behaviour, lasting for several
minutes. At times he will wander around the room as if agitated, picking up and
dropping objects. On one occasion whilst watching television, he started to get
undressed. When asked by his mother what he was doing, he did not seem to hear her.
A few minutes later he seemed to have no idea why he was not wearing his shirt. His
teachers say his concentration and behaviour have both deteriorated. In the past, he
had several prolonged febrile convulsions up to the age of 5.
6 A 2 year old boy has been pyrexial and coryzal for 3 days when his mother finds
him lying on the ground with his arms and legs shaking. When he arrives in hospital
10 minutes later he has stopped shaking but remains drowsy. His temperature is 40C.
An hour later he is more awake and alert. Examination reveals a red throat. Urinalysis
shows 1+ of blood and protein.
7 A 14 year old girl has collapsed at school and was seen to have several jerking
movements of her body. She remember standing in assembly and feeling hot and light
headed. The next thing she remembers is waking up on the floor. She has been
brought to A&E by her teacher but in now fully recovered. Examination is normal.
Answers
FBAHDGI
weakness
A Guillain-Barre syndrome
B Duchenne muscular dystrophy
C Spinal muscular atrophy
D Congenital myotonic dystrophy
E Polio
Lead-in:
F Myasthenia gravis
G Cerebral palsy
H Brachial plexus injury
I Chronic fatigue syndrome
J Steroid induced myopathy
For each patient with weakness, select the most likely diagnosis.
Stems:
1. A male infant with congenital talipes is noted to be floppy and weak soon after
birth.. He requires ventilatory support for 6 days and subsequently experiences
feeding difficulties. A previous sibling had died at birth. The mother is noted
to have some facial weakness, and on questioning complains of ‘stiffness’ in
cold weather.
2. A 15 year old girl presents with a 3 month history of increasing lethargy,
myalgia, weakness and unsteadiness on her feet. She also complains of
difficulties with concentration and short term memory. Neurological
examination reveals variable and inconsistent weakness of all four limbs. Her
mother has recently been diagnosed with multiple sclerosis.
3. A one day old boy born to a mother with gestational diabetes is noted to have
a drooping eyelid and small pupil on the right side. Further examination
reveals proximal weakness and hypotonia of the right arm, with an
asymmetrical Moro reflex.
4. An 8 year old girl develops a febrile illness with headache and vomiting, after
returning from a holiday in India. 3 days later she develops weakness of her
right leg and difficulty swallowing. Examination reveals a flaccid paralysis of
the proximal muscles of the right leg and a bulbar palsy. Sensation is normal.
Her parents are strong believers in alternative medical therapies.
5. A 12 year old boy develops difficulty walking 2 weeks following an episode
of gastroenteritis. He also reports pins and needles in his feet and back pain.
Examination reveals symmetrical weakness of both legs, absent reflexes and
flexor plantar responses. There is also mild weakness of the upper limbs. A
6. The mother of a 6 month old girl is concerned that she uses her right hand less
than her left. On examination, the right hand is held clenched and there is
weakness and increased tone of the right arm. The right leg is externally
rotated. All deep tendon reflexes are present and symmetrical.
7. A 2½ year old boy has been walking from the age of 15 months (the same age
as his older brother). However, his parents have noticed that his walking has
always been awkward, he has difficulty climbing stairs, and he cannot run. He
was recently diagnosed with mild asthma. On examination, he stands with his
feet apart and walks with a waddling gait. There is weakness of the proximal
muscles of both legs and absent knee jerks. The ankle jerks are present and
plantar responses flexor.
8. An 11 year old girl develops weakness of all four limbs following a coryzal
illness. She also develops bilateral ptosis, which is particularly obvious in the
evening. On direct questioning, her parents have noticed drooping eyelids on
previous occasions, attributed to tiredness. Other than bilateral ptosis and mild
generalised weakness of upper and lower limbs, neurological examination is
normal.
9. A female infant born to consanguineous parents is found to be weak and
hypotonic from birth. She has a weak cry and difficulties feeding.
Examination reveals an absence of all deep tendon reflexes. Irregular jerky
movements of the fingers and a ‘rippling’ appearance of the tongue are also
noted.
Answers
DIHEAGBFC
Diagnosis of cardiovascular diseases in children
A. Kawasaki disease
H. Acute rheumatic fever
B. Hereditary angioedema
I. Congestive heart failure
C. Congenital nephrotic syndrome
J. Toxic synovitis
D. Myocarditis
K. Aortic stenosis
E. Pericarditis
L Systemic Lupus Erythematosis
F. Primary pulmonary hypertension
M. Paroxysmal artrial tachycardia
G. Juvenile rheumatoid arthritis
N. Mitral stenosis
From each pateint below, choose the SINGLE most likely diagnosis from the above
list of options.
Each option may be used once, more than once, or not at all.
1. A 10 yr old boy presents with stridor. He has h/o recurrent swelling of the hands
and feet with abdominal pain and diarrhoea. His sister also suffer from similar attacks.
2. A 6 yr old girl presents with spiking fevers. On examination, she has spindleshaped swellings of the finger-joints.
3. A 12 year old boy presents with polyarthritis and abdominal pain. He had a sore
throat a week ago. On examination, he is noted to have an early blowing diastolic
murmur at the left sternal edge.
4. A 10 yr old boy prsents to asualty following a seizure during gym. On examination,
he has a loud systolic ejection murmur with a thrill.
5. A 12 yr old girl prsents with pallor, dyspnoea, and pulse rate of 190. She is noted to
have cardiomegaly and hepatomegaly.
Answer: 1. B 2. G 3. H 4. K 5. I.