Day 10 Flashcards
Where in the childhood immunisation schedule is the Meningitis B vaccine given?
he Meningitis B vaccination was introduced to the NHS routine childhood immunisation schedule in 2015.
It is given at 2, 4, and 12 months of age
A 16-year-old girl presents to you complaining that she hasn’t begun having her periods yet. You are concerned that this is late and you begin investigating why. On examination, you notice that she has a short stature and low set ears.
What is the likely diagnosis?
What murmur are you likely to hear on auscultation?
What is the cause of the murmur
Where are you likely to hear the murmur?
What is the likely diagnosis?
Turner’s syndrome
What murmur are you likely to hear on auscultation?
ejection systolic murmur
What is the cause of the murmur
bicuspid aortic valve
Where are you likely to hear the murmur?
heard at the right second intercostal space
5% of Turner’s syndrome may also present with coarctation of the aorta
What murmur are you likely to hear on auscultation? (2)
What is the cause of the murmur (2)
Where are you likely to hear the murmur? (2)
What murmur are you likely to hear on auscultation?
- mid systolic murmur, maximal over back
- apical click from the aortic valve
What is the cause of the murmur
- systolic component of the aorta’s coarctation is due to turbulent blood flowing through the aorta’s small diameter section
- Its diastolic component is due to aortic regurgitation.
Where are you likely to hear the murmur?
- Aortic area
- also heard over the thoracic spine
What is the average age that a child is able to Palmar grasp
5-6 months
What is the average age that a child is able to draw a circle?
3 years
What is the average age that a child is able to make a tower of 3-4 blocks
18 months
Pyloric stenosis classically leads to
- hypochloraemic
- hypokalaemic
- alkalosis
Even though pyloric stenosis is a typical paediatric condition, it is still essential for any clinician to have a basic understanding of the condition. The diagnosis can be reached by exclusion through logical reasoning by simply knowing that vomiting causes loss of HCl- and K+ and by understanding what the other conditions, which are common in adults too, entail.
Features of foetal alcohol syndrome
(6)
Foetal alcohol syndrome presents with a range of features depending on the severity of alcohol exposure:
- microcephaly (small head)
- short palpebral fissures (small eye opening)
- hypoplastic upper lip (thin)
- absent philtrum
- reduced IQ
- variable cardiac abnormalities.
Features of Rubella infection during pregnancy
(3)
Rubella infection during pregnancy:
- Most at risk in first 16w of pregnancy
Classic features:
- cataracts
- deafness
- cardiac abnormalities
Features of Foetal Varicella syndrome:
(3)
1% of foetuses affected if mother has primary infection in weeks 3-28 due to deactivation in utero
Features:
- skin scarring
- eye defects (small eyes, cataracts or chorioretinitis)
- neurological defects (reduced IQ, abnormal sphincter function, microcephaly)
Maternal syphilis infection birth defects:
- Rhinitis
- saddle shaped nose
- deafness (sensorineural hearing loss)
- Hutchinson’s incisors
Effects of smoking while pregnant
(4)
Cigarette smoking:
- Increased risk of miscarriage
- stillbirth
- pre-term labour
- intrauterine growth restriction
A male child from a travelling community is diagnosed with measles.
Which one of the following complications is he at risk from in the immediate aftermath of the initial infection? (1)
Long term after the infection (3)
Immediately after measles
- pneumonia
Post infection measles
- Subacute sclerosing panencephalitis is seen but develops 5-10 years following the illness.
- Pancreatitis
- infertility
A 2-month-old boy is brought to the afternoon surgery by his mother. Since the morning he has been taking reduced feeds and has been ‘not his usual self’.
On examination the baby appears well but has a temperature of 38.7ºC.
What is the most appropriate management?
Any child less than 3 months old with a temperature > 38ºC is regarded as a ‘red’ feature in the new NICE guidelines, warranting urgent referral to a paediatrician. Although many experienced GPs may choose not to strictly follow such advice it is important to be aware of recent guidelines for the exam
A parent brings their 2-week-old boy, who was diagnosed prenatally with Down’s syndrome, to hospital. He has been feeding poorly and has been constipated.
On examination, his abdomen is distended.
A colonic biopsy shows absence of ganglion cells in the submucosa.
What is the initial management for this condition?
The initial management in Hirschprung’s disease is rectal washouts/bowel irrigation
A 12-year-old female presents to her GP with bilateral knee pain, swelling and stiffness.
On examination, a salmon-pink rash is noted on the legs.
What is the most likely diagnosis?
Joint pain with a salmon-pink rash is characteristic of juvenile idiopathic arthritis (Still’s disease)
Features of JRA
(6)
Features of systemic onset JIA include
- pyrexia
- salmon-pink rash
- lymphadenopathy
- arthritis
- uveitis
- anorexia and weight loss
What is Juvenile idiopathic arthritis?
Juvenile idiopathic arthritis (JIA), now referred to the older term juvenile chronic arthritis, describes arthritis occurring in someone who is less than 16 years old that lasts for more than 6 weeks.
Systemic onset JIA is a type of JIA which is also known as Still’s disease
Investigations for JRA
Investigations
- ANA may be positive, especially in oligoarticular JIA
- rheumatoid factor is usually negative
TOF is a result of anterior malalignment of the aorticopulmonary septum. The four characteristic features are:
- ventricular septal defect (VSD)
- right ventricular hypertrophy
- right ventricular outflow tract obstruction, pulmonary stenosis
- overriding aorta
It typically presents at around 1-2 months, although may not be picked up until the baby is 6 months old
A 9-month-old baby is seen on the ward after arriving into the emergency department last night with seizures.
The parents show you a video of the contractions which appear very similar to colic.
They also report a change in her development and are concerned she is struggling.
You arrange an EEG which shows hypsarrhythmia and a MRI head which is abnormal.
What is the most likely diagnosis?
West’s syndrome
The seizure pattern in west’s syndrome are known as infantile spasms, and to the family they can appear to look like colic.
In this case, it is important to understand there is a definitive pathology due to the abnormal EEG and MRI, with hypsarrhythmia being classical of west’s syndrome.
Investigations for West’s disease
(2)
the EEG shows hypsarrhythmia in two-thirds of infants
CT demonstrates diffuse or localised brain disease in 70% (e.g. tuberous sclerosis)
Features of West’s disease
(3)
characteristic ‘salaam’ attacks: flexion of the head, trunk and arms followed by extension of the arms
this lasts only 1-2 seconds but may be repeated up to 50 times
progressive mental handicap
Management of West’s disease
(3)
poor prognosis
vigabatrin is now considered first-line therapy
ACTH is also used
What is West’s disease?
When is it most prevalent?
In which gender is it most common?
What do they signify?
Infantile spasms, or West syndrome, is a type of childhood epilepsy which typically presents in the first 4 to 8 months of life and is more common in male infants.
They are often associated with a serious underlying condition and carry a poor prognosis
A 12-year-old girl comes with her mother to surgery. She is requesting the combined oral contraceptive (COC) pill as she has recently started a relationship with an 18-year-old man who she met at the local games arcade, although she has not yet had sex with him.
You discuss the age difference but her mother states that she has met the boyfriend and says he treats her daughter well. Both the girl and her mother insist that they do not want anyone else involved.
What is the most appropriate course of action?
Immediately phone local child protection lead and refer to social services
Children under the age of 13 years are not able to consent to sexual intercourse and hence any sexual activity would be regarded as rape under the law.
This is one situation under the GMC guidelines where you are compelled to break confidentiality
A 3-year-old girl is brought into the paediatric assessment unit by her parents after they witnessed her going stiff and falling onto the floor before shaking for three minutes. Over the three days preceding this, she has been suffering with a fever and coryzal symptoms. Her father also noticed a roughened rash on her torso and a swollen tongue yesterday.
This is the first time the patient has suffered a seizure and she has met all of her developmental milestones.
After being assessed, it is decided the girl is safe to go home.
What is the diagnosis?
What advice should be given to the parents?
Parents should be advised to call an ambulance if a febrile convulsion lasts >5 minutes
The sandpaper rash and strawberry tongue mentioned in the vignette indicates a diagnosis of scarlet fever, a condition which is commonly associated with febrile seizures.
An 8-year-old boy attends a general practice appointment with his mother with a 1-month history of right-sided hip pain and occasional limp. The patient feels well, is afebrile, and measures in the 90th percentile for weight.
He was born by spontaneous vertex vaginal delivery at term, with an unremarkable newborn physical examination.
On examination, there is a limited range of movement in his right hip.
A frog-leg hip x-ray is requested, showing sclerosis of the right upper femoral epiphysis and moderate of resorption of the femoral head.
What is the diagnosis?
In which demographic is it more common?
The correct answer is the condition is 5 times more common in boys.
Perthes’ disease is 5 times more common in boys.
Around 10% of cases are bilateral
What is Perthe’s disease?
Who does it affect?
(2)
Perthes’ disease is an idiopathic avascular necrosis of the femoral head in children.
It classically presents in a 4-8-year-old boy with an irritable hip, limp, and reduced range of motion, despite no history of trauma or systemic symptoms.
A 39 hour old neonate is brought to their GP by their parents. The child has not passed stool since being birthed at home and has started vomiting yellow/green liquid after feeding. On examination the childs stomach is grossly distended but with no palpable masses.
Given the likely diagnosis what is the gold standard diagnostic test?
Rectal biopsy is the gold standard for diagnosis of Hirschsprung’s disease
What is the test for Hirschsprung’s disease?
Rectal biopsy is the gold standard for diagnosis of Hirschsprung’s disease
How long do kids stay off school for whooping cough?
(2)
2 days after commencing antibiotics
(or 21 days from onset of symptoms if no antibiotics)
How long do kids stay off school for Roseola?
they don’t
How long do kids stay off school for diarrhoea and vomiting?
Until symptoms have settled for 48 hours
A 2-week-old baby boy presents to the emergency department with persistent vomiting.
The father states that the child’s vomiting is ‘like a fountain’.
What one investigation is most appropriate to help you confirm your suspected diagnosis?
The key investigation in pyloric stenosis is ultrasound
You deliver a baby on the maternity ward.
At 2 minutes, the baby’s heart rate is 110bpm, the baby is crying loudly with stimulation and moving all four limbs.
The baby is coughing and sneezing.
The body is pink but hands and feet are slightly blue and feel cold to the touch.
What is the APGAR score?
In this case, the baby scores a 9 as the only point he/she misses is the fact his extremities are blue and cold to the touch. This is not unusual in babies.
Henry is a premature baby (29 weeks) who was born 2 weeks ago.
Over the past week, he has been passing bloody stools, has abdominal distension and has not been feeding well.
Physical examination reveals an increased abdominal girth with reduced bowel sounds.
Abdominal X-ray shows dilated asymmetrical bowel loops and bowel wall oedema.
What is the likely diagnosis?
Necrotising enterocolitis is one of the leading causes of death among premature infants.
Initial symptoms can include feeding intolerance, abdominal distension and bloody stools, which can quickly progress to abdominal discolouration, perforation and peritonitis.
Abdominal x-rays are useful when diagnosing necrotising enterocolitis, as they can show:
(7)
- dilated bowel loops (often asymmetrical in distribution)
- bowel wall oedema
- pneumatosis intestinalis (intramural gas)
- portal venous gas
- pneumoperitoneum resulting from perforation
- air both inside and outside of the bowel wall (Rigler sign)
- air outlining the falciform ligament (football sign)
What is necrotising enterocolitis?
(3)
Necrotising enterocolitis is one of the leading causes of death among premature infants.
Initial symptoms can include feeding intolerance, abdominal distension and bloody stools
These can quickly progress to abdominal discolouration, perforation and peritonitis
A 4-year-old boy presents with fever and a sore throat. Examination reveals tonsillitis and a furred tongue with enlarged papillae. There is a blanching punctate rash sparing the face
What is the diagnosis?
Scarlet fever
A 3-year-old girl with a two day history of fever and malaise. Developed a pink maculopapular rash initially on the face before spreading.
Suboccipital lymph nodes are also noted
Rubella
A 4-year-old boy presents with fever, malaise and a ‘slapped-cheek’ appearance
Parvovirus B19
What kind of rash is seen in scarlet fever?
fine punctate erythema sparing the area around the mouth (circumoral pallor)
A 5-year-old girl is brought in by her mother. Mum reports she started to feel unwell two days ago, complaining of a sore throat and headache.
Overnight, she developed a temperature and vomited once. This morning she has broken out in a rash all over her body, this has spread from her chest where it started.
On examination, she has a temperature of 38.5ºC, heart rate 130 beats per minute, she looks flushed and has an erythematous rash over her body which feels like sandpaper and blanches with pressure.
There are palpable cervical lymph nodes when you examine her neck and her tongue has a white coating over it. What is the most likely diagnosis?
- *All the S’s:**
- Sandpaper rash
- Strawberry tongue
- Sloughs off
- Spares face
Scarlet fever
What are the 4 S’s of scarlet fever?
Sandpaper rash
Skins sloughs off
Strawberry tongue
Spares face
A 4-year-old boy is brought to the clinic by his mother who has noticed a small lesion at the external angle of his eye.
On examination, there is a small cystic structure which has obviously been recently infected.
On removal of the scab, there is hair visible within the lesion. What is the most likely diagnosis?
(4)
Dermoid cyst
A cutaneous dermoid cyst may develop at sites of embryonic developmental fusion.
They are most common in the midline of the neck, external angle of the eye and posterior to the pinna of the ear.
They typically have multiple inclusions such as hair follicles that bud out from its walls.
They may develop at other sites such as the ovary and in these sites are synonymous with teratomas.
All newborn babies should have their hearing checked by the health visitor as part of the ‘Newborn Hearing Screening Programme’.
If this is abnormal they go on to have which hearing test?
(2)
If this is abnormal an auditory brainstem response test is carried out as a newborn/infant.
at what age is a distraction audiometry test carried out?
6-9 months
A 16-year-old boy presents to the emergency room with a history of groin pain for the past three hours.
He has associated nausea and has vomited three times.
He reports that he recently had unprotected vaginal sex.
On examination there is tenderness and swelling of the scrotum and left testicle, with absence of the cremaster reflex on the left side.
Elevation of the affected testicle causes increased pain.
What is the most likely diagnosis?
(5)
- Testicular torsion occurs when the testis turns on the remnant of the processus vaginalis thereby restricting blood flow.
- It usually presents with acutely severe testicular pain often with associated nausea and vomiting.
- There may be swelling of the testis with overlying erythema.
- The cremaster reflex may also be absent on the affected side.
- Elevation of the testicle often results in worsening of the pain.
Which signs would indicate epididymitis?
With epididymitis we would expect urinary symptoms.
In addition, elevation of the testes often relieves the pain (Prehn’s sign positive).
A 4-year-old boy is reviewed by the orthopaedic doctor following 3 weeks of a progressively worsening limp.
Blood tests were unremarkable and x-rays demonstrated a hip joint effusion but no significant structural deficits to the femoral head noted; a diagnosis of Perthes’ disease is made.
What would be the most appropriate initial management strategy for this child?
Perthes’ disease presenting under the age of 6 years has a good prognosis requiring only observation
A 2-year-old boy with several small bruise-like lesions is brought to the emergency department by his mother. She reports first noticing these lesions on her son’s abdomen when bathing him two days ago, despite no obvious preceding trauma. The bruising does not appear to be spreading.
Notably, the child had mild coryzal symptoms one week ago, though has now recovered.
On examination, the child appears well in himself and is smiling. There are 4 small petechiae on the patient’s abdomen. The examination is otherwise unremarkable.
What is the likely diagnosis? (1)
What would be an indication for bone marrow biopsy? (3)
This patient’s presentation is in keeping with idiopathic thrombocytopenic purpura (ITP) characterised by a petechial rash in an otherwise well child.
The correct answer is splenomegaly.
ITP is an autoimmune destruction of platelets that may be triggered by a preceding viral illness. A
typical findings that may warrant bone marrow biopsy include splenomegaly, bone pain, and diffuse lymphadenopathy, which may suggest an underlying myeloproliferative malignancy.
What are the diagnostic criteria fot ITP diagnosis?
Idiopathic thrombocytopenic purpura (ITP) characterised by a petechial rash in an otherwise well child.
A 5-year-old boy comes to see you at the GP surgery with his parents for a follow up.
He has a six month history of nocturnal enuresis.
Four months ago when you first saw him he was wetting the bed six to seven nights a week.
At the time you gave his parents advice on reducing excessive fluid intake before bedtime, a toileting routine before bed and starting a reward system for agreed behaviour.
His parents have implemented all of these and he is still wetting the bed six to seven nights a week.
What would be the most appropriate next step in the management of his nocturnal enuresis?
An enuresis alarm is generally used first-line for nocturnal enuresis if general advice has not helped
A 4-year-old girl presents to the emergency department with a fever, sore throat and pain on swallowing which started yesterday and has become progressively worse. On examination, she is drooling, and appears anxious and sat forward with her hands on her knees. Her temperature was 38ºC, oxygen saturation 96% on air, heart rate 100 beats per minute, respiratory rate of 24 breaths per minute and blood pressure 100/60 mmHg.
She is administered intravenous dexamethasone and inhaled budesonide, however still continues to deteriorate clinically. She now has stridor which is audible from the edge of the bed. The on-call anaesthetist is bleeped.
What intervention may be considered next?
Endotracheal intubation may be necessary to protect the airway in acute epiglottitis
The correct answer is endotracheal intubation, as the patient has a likely diagnosis of acute epiglottitis and is not improving with medical therapy. She has also developed marked stridor which means her airway may become compromised.
What is the genotype of Klinefelter? (1)
What are the phenotypical features of Klinefelter’s syndrome? (6)
Klinefelter’s syndrome is associated with karyotype 47, XXY
Features
often taller than average
lack of secondary sexual characteristics
small, firm testes
infertile
gynaecomastia - increased incidence of breast cancer
elevated gonadotrophin levels
What are the features of Kallman’s syndrome?
(7)
Features
‘delayed puberty’
hypogonadism, cryptorchidism
anosmia
sex hormone levels are low
LH, FSH levels are inappropriately low/normal
patients are typically of normal or above average height
Cleft lip/palate and visual/hearing defects are also seen in some patients
What is cubitus valgus?
Cubitus valgus is a deformity in which the forearm is angled out away from the body when the arm is fully extended.
What is Ebstein’s anomaly?
Ebstein’s anomaly is caused by the use of lithium in pregnancy.
It occurs when the posterior leaflets of the tricuspid valve are displaced anteriorly towards the apex of the right ventricle.
The creates tricuspid regurgitation (pan-systolic murmur) and tricuspid stenosis (mid-diastolic murmur).
There is also enlargement of the right atrium.
Ventricular septal defects present with a pan-systolic but not diastolic murmur.
Tetralogy of fallot typically presents at 1-2 months of age rather than in the days after birth.
Mitral valve prolapse presents with a mid systolic click followed by a late systolic murmur but has no diastolic element.
Aortic stenosis usually presents with an ejection systolic murmur and would generally be seen in adult patients over the age of 65.
