Day 10 Flashcards
1
Q
Where in the childhood immunisation schedule is the Meningitis B vaccine given?
A
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
2
Q
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?
A
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
3
Q
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)
A
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
4
Q
A
5
Q
What is the average age that a child is able to Palmar grasp
A
5-6 months
6
Q
What is the average age that a child is able to draw a circle?
A
3 years
7
Q
What is the average age that a child is able to make a tower of 3-4 blocks
A
18 months
8
Q
A
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.
9
Q
Features of foetal alcohol syndrome
(6)
A
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.
10
Q
Features of Rubella infection during pregnancy
(3)
A
Rubella infection during pregnancy:
- Most at risk in first 16w of pregnancy
Classic features:
- cataracts
- deafness
- cardiac abnormalities
11
Q
Features of Foetal Varicella syndrome:
(3)
A
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)
12
Q
Maternal syphilis infection birth defects:
A
- Rhinitis
- saddle shaped nose
- deafness (sensorineural hearing loss)
- Hutchinson’s incisors
13
Q
Effects of smoking while pregnant
(4)
A
Cigarette smoking:
- Increased risk of miscarriage
- stillbirth
- pre-term labour
- intrauterine growth restriction
14
Q
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)
A
Immediately after measles
- pneumonia
Post infection measles
- Subacute sclerosing panencephalitis is seen but develops 5-10 years following the illness.
- Pancreatitis
- infertility
15
Q
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?
A
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
16
Q
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?
A
The initial management in Hirschprung’s disease is rectal washouts/bowel irrigation
17
Q
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?
A
Joint pain with a salmon-pink rash is characteristic of juvenile idiopathic arthritis (Still’s disease)
18
Q
Features of JRA
(6)
A
Features of systemic onset JIA include
- pyrexia
- salmon-pink rash
- lymphadenopathy
- arthritis
- uveitis
- anorexia and weight loss
19
Q
What is Juvenile idiopathic arthritis?
A
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
20
Q
Investigations for JRA
A
Investigations
- ANA may be positive, especially in oligoarticular JIA
- rheumatoid factor is usually negative
21
Q
TOF is a result of anterior malalignment of the aorticopulmonary septum. The four characteristic features are:
A
- 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
22
Q
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?
A
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.
23
Q
Investigations for West’s disease
(2)
A
the EEG shows hypsarrhythmia in two-thirds of infants
CT demonstrates diffuse or localised brain disease in 70% (e.g. tuberous sclerosis)
24
Q
Features of West’s disease
(3)
A
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
25
Management of West's disease
| (3)
poor prognosis
vigabatrin is now considered first-line therapy
ACTH is also used
26
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
27
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
## Footnote
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
28
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.
29
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
30
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.
31
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
32
What is the test for Hirschsprung's disease?
Rectal biopsy is the gold standard for diagnosis of Hirschsprung's disease
33
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)
34
How long do kids stay off school for Roseola?
they don't
35
How long do kids stay off school for diarrhoea and vomiting?
Until symptoms have settled for 48 hours
36
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
37
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.
38
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.
39
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)
40
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
41
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
42
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
43
A 4-year-old boy presents with fever, malaise and a 'slapped-cheek' appearance
Parvovirus B19
44
What kind of rash is seen in scarlet fever?
fine punctate erythema sparing the area around the mouth (circumoral pallor)
45
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
46
What are the 4 S's of scarlet fever?
Sandpaper rash
Skins sloughs off
Strawberry tongue
Spares face
47
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.
48
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**.
49
at what age is a distraction audiometry test carried out?
6-9 months
50
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.
51
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).
52
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
53
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.
## Footnote
**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.
54
What are the diagnostic criteria fot ITP diagnosis?
Idiopathic thrombocytopenic purpura (ITP) characterised by a **petechial** **rash** in an otherwise well child.
55
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
56
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.
57
An acutely unwell 19-month-old child with pneumonia suddenly stops breathing in the emergency department.
The team quickly assesses the boy and diagnoses a cardiac arrest.
They commence cardiopulmonary resuscitation (CPR) after 5 initial rescue breaths.
What is the ideal rate of chest compressions to rescue breaths?
In paediatric basic life support, the ratio of compressions to breaths is 15:2
58
A 15 kg 3-year-old boy with a background of vomiting and passing loose stools for 5 days presents to the paediatric emergency department with increasing irritability and tiredness. He has not eaten for the past 2 days and has only been able to tolerate a minimal amount of fluid. His mother notices that he passes urine less often as well.
On examination, the boy appears to be lethargic and there is altered responsiveness. His heart rate is 160 beats per minute (95-140 /min), respiratory rate is 32 breaths per minute (25-30/min) and systolic blood pressure is 90 mmHg (80-100 mmHg). His temperature is normal.
There are no skin rashes. Capillary refill time is 4 seconds and his extremities are cold and pale. Skin turgor is reduced and the mucous membranes are dry.
What can you conclude about the hydration status of the patient and how would you manage the patient based on your conclusion?
Early compensated shock in children is reversible in contrast to uncompensated shock, which may be irreversible; hypotension is a sign of late decompensated shock
59
60
61
Features suggestive of hypernatraemic dehydration:
(5)
jittery movements
increased muscle tone
hyperreflexia
convulsions
drowsiness or coma
62
Drug given to reduce serum potassium
| (3)
**Insulin** shifts potassium into cells by s**timulating the activity of Na+-H+ antiporter** on cell membrane,
This promotes the **entry of sodium into cells**
Which leads to **activation of the Na+-K+ ATPase**
causing an electrogenic **influx of potassium**
63
How is dehydration treated
| (3)
If dehydration is suspected:
## Footnote
give 50 ml/kg low osmolarity oral rehydration solution (ORS) solution over 4 hours, plus ORS solution for maintenance, often and in small amounts
continue breastfeeding
consider supplementing with usual fluids (including milk feeds or water, but not fruit juices or carbonated drinks)
64
A 3-year-old boy comes to see you with his parents. He has a six month history of chronic diarrhoea with five to seven loose stools per day.
His parents describe the stools as looking as though they contain 'carrots, peas and sweet corn' and generally what sounds like undigested food from previous meals.
He is growing well and has remained stable on the 75th percentile on the growth chart for weight, height and head circumference.
Other than the diarrhoea he has had no other symptoms or abdominal pain and examination is normal.
What is the most likely diagnosis?
Toddlers diarrhoea
Stools containing 'carrots and peas' and undigested food in a toddler will generally point towards toddlers diarrhoea or 'chronic nonspecific diarrhoea' in exams.
65
A 6-month-old girl is brought to the paediatric emergency department due to a 3-day history of vomiting and fever.
She is usually fit and well, other than a successfully treated urinary tract infection 2 months previously.
General examination is unremarkable, though the patient's urine dipstick is positive for nitrites, leukocytes, and blood.
Abdominal ultrasound excludes a posterior urethral valve, though the sonography report describes retrograde flow of urine into the ureters from the bladder.
Name the likely diagnosis.
What is the most appropriate first-line investigation?
The correct answer is micturating cystourethrogram (MCUG).
MCUG is the gold standard investigation for the diagnosis of vesicoureteric reflux and associated reflux nephropathy.
Patients are catheterised and radio-opaque dye is injected into the bladder.
The patient then voids the contents of their bladder and x-rays are taken.
Reflux of the dye into the ureters confirms the diagnosis of vesicoureteric reflux and reflux nephropathy.
66
A 5-year-old child presents to the emergency department accompanied by the mother with a week history of cough and low-grade fever.
The mother describes the cough as barking. She has completed all the vaccinations to date.
On examination, you can observe suprasternal wall retraction at rest, but the child looks alert and reactive. The child produces strident breath sounds at rest.
What is the diagnosis?
What is the most appropriate management plan?
Croup: audible stridor at rest is an indication for admission
67
A 5-year-old girl has been unwell for 3 days with occasional vomiting and lethargy, she had one episode of diarrhoea. On examination she has a soft abdomen with tenderness in the region of the right iliac fossa. Her temperature is 38.1. Urine dipstick shows leucocytes (+) and protein (+).
What is the diagnosis?
What is the next step?
The correct answer is: Appendicectomy
Discharge with oral antibiotics
68
A 6 day old baby was born prematurely at 33 weeks. He has been suffering from respiratory distress syndrome and has been receiving ventilatory support on NICU. He has developed abdominal distension and is increasingly septic. Ultrasound of the abdomen shows free fluid and evidence of small bowel dilatation. His blood pressure has remained labile despite inotropic support
What is the diagnosis?
What is the next step to take?
He has necrotising enterocolitis and whilst this is often initially managed medically a laparotomy is required if the situation deteriorates.
The correct answer is: **Laparotomy**
69
A 5-year-old child has been unwell with a sore throat and fever for several days. He progresses to develop periumbilical abdominal discomfort and passes diarrhoea. This becomes blood stained. The paediatricians call you because the ultrasound has shown a 'target sign'.
What is the diagnosis?
What is the next step?
**Pneumatic reduction under fluoroscopic guidance**
This child has an **intussusception**. The lymphadenopathy will have initiated it. A target sign is seen on ultrasound and is the side on view of multiple layers of bowel wall. Reduction using fluoroscopy with air is the usual first line management. Ileo-colic intussceceptions are generally most reliably reduced using this method, long ileo-ileal intussceceptions usually result in surgery.
70
71
What are the Fraser guidelines?
| (5)
**The following points should be fulfilled:**
## Footnote
the young person understands the professional's advice
the young person cannot be persuaded to inform their parents or allow the professional to contact them on their behalf
the young person is likely to begin, or continue having, sexual intercourse with or without contraceptive treatment
unless the young person receives contraceptive treatment, their physical or mental health, or both, is likely to suffer
the young person's best interests require them to receive contraceptive advice or treatment with or without parental consent
72
A father brings his 7-year-old son into your paediatric clinic as his son has recently been diagnosed with Fragile X syndrome. During the consultation you notice that the boy is sitting quietly, not making eye contact with you when you talk to him. You also observe he has low-set ears, a long thin face and an enlarged mandible. The father is concerned about the possible consequences of a diagnosis of Fragile X syndrome.
What can you tell him is a potential complication of Fragile X syndrome?
(6)
**Features in males**
## Footnote
learning difficulties
large low set ears, long thin face, high arched palate
macroorchidism
hypotonia
autism is more common
mitral valve prolapse
73
Diagnosis of Fragile X syndrome
| (2)
**Diagnosis**
## Footnote
can be made antenatally by chorionic villus sampling or amniocentesis
analysis of the number of CGG repeats using restriction endonuclease digestion and Southern blot analysis
74
Risk factors for DDH
| (7)
female sex: 6 times greater risk
breech presentation
positive family history
firstborn children
oligohydramnios
birth weight \> 5 kg
congenital calcaneovalgus foot deformity
75
What is oligohydramnios?
In this condition, there is too little amniotic fluid around your baby during pregnancy
76
A 17-year-old girl presents to her GP because she is concerned that she hasn't started menstruating yet. She is otherwise well in herself.
On examination, she is of normal height and has had breast development, but very little pubic hair. On examination of the abdomen you can feel two masses in the groin. Her external genitalia appear normal.
What is the most likely diagnosis?
Androgen insensitivity - classic presentation is 'primary amenorrhoea'
77
78
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**
## Footnote
often taller than average
lack of secondary sexual characteristics
small, firm testes
infertile
gynaecomastia - increased incidence of breast cancer
elevated gonadotrophin levels
79
What is Kallman's syndrome?
| (3)
Kallman's syndrome is a recognised cause of delayed puberty secondary to hypogonadotrophic hypogonadism.
It is usually inherited as an X-linked recessive trait. Kallman's syndrome is thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus.
A classical picture is a lack of smell (anosmia) in a boy with delayed puberty
80
What are the features of Kallman's syndrome?
(7)
**_Features_**
## Footnote
'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
81
What is androgen insensitivity syndrome?
(3)
**X-linked recessive** causing end-organ resistance to testosterone
This causes genotypical males (**46XY**) to have a female phenotype.
**Complete androgen insensitivity syndrome** is the new term for testicular feminisation syndrome
82
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.
83
A 14-year-old girl presents to her GP due to developmental concerns. She is the shortest girl in her class and has failed to start menstruating. On examination she has cubitus valgus and low-set ears.
Given the likely diagnosis, which chest sign will the GP most likely elicit?
(2)
Turner's syndrome is associated with an **ejection systolic murmur** due to **bicuspid aortic valve**
84
A 6-year-old boy is brought to the emergency department by his mother due to pain in his left hip. He has been complaining of pain and is reluctant to weight bear on his left leg.
He has a normal range of movement in both legs. His mother says that he has been generally unwell with coryzal symptoms for the last few days and he currently has a temperature of 37.8 ºC.
What is the most likely diagnosis?
What is the age range for this condition?
What is the treatment?
What is it important to rule out?
## Footnote
Transient synovitis
most commonly seen in children aged 3-8 years
Transient synovitis is self-limiting, requiring only rest
important to rule out septic arthritis
85
What is the most useful investigation to screen for the complications of Kawasaki disease?
| (2)
**Coronary artery aneurysms** are a complication of Kawasaki disease and this should be screened for with an **echocardiogram**
86
A large 12-year-old boy is seen by the GP for ongoing left-sided groin pain. An urgent hip x-ray is ordered to investigate the cause. He has no history of recent illness, trauma or congenital hip problems. On examination, there is a reduced range of internal rotation in hip flexion.
What will the x-ray most likely show?
Obese boy with groin/thigh/knee pain → slipped capital femoral epiphysis
87
An acutely unwell 19-month-old child with pneumonia suddenly stops breathing in the emergency department. The team quickly assesses the boy and diagnoses a cardiac arrest. They commence cardiopulmonary resuscitation (CPR) after 5 initial rescue breaths.
What is the ideal rate of chest compressions to rescue breaths?
15:2
88
A 15 kg 3-year-old boy with a background of vomiting and passing loose stools for 5 days presents to the paediatric emergency department with increasing irritability and tiredness. He has not eaten for the past 2 days and has only been able to tolerate a minimal amount of fluid. His mother notices that he passes urine less often as well.
On examination, the boy appears to be lethargic and there is altered responsiveness. His heart rate is 160 beats per minute (95-140 /min), respiratory rate is 32 breaths per minute (25-30/min) and systolic blood pressure is 90 mmHg (80-100 mmHg). His temperature is normal.
There are no skin rashes. Capillary refill time is 4 seconds and his extremities are cold and pale. Skin turgor is reduced and the mucous membranes are dry.
What can you conclude about the hydration status of the patient and how would you manage the patient based on your conclusion?`§
The patient is in clinical shock rather than just clinical dehydration as he has the following signs:
* pale and cold extremities
* prolonged capillary refill time
89
A 3-year-old boy comes to see you with his parents. He has a six month history of chronic diarrhoea with five to seven loose stools per day. His parents describe the stools as looking as though they contain 'carrots, peas and sweet corn' and generally what sounds like undigested food from previous meals.
He is growing well and has remained stable on the 75th percentile on the growth chart for weight, height and head circumference. Other than the diarrhoea he has had no other symptoms or abdominal pain and examination is normal.
What is the most likely diagnosis
Toddlers diarrhoea
Stools containing 'carrots and peas' and undigested food in a toddler will generally point towards toddlers diarrhoea or 'chronic nonspecific diarrhoea' in exams.
Toddlers diarrhoea should remit as a child grows up, is generally in those aged between 1 and 5-years-old and is more common in boys.
90
A 6-month-old girl is brought to the paediatric emergency department due to a 3-day history of vomiting and fever. She is usually fit and well, other than a successfully treated urinary tract infection 2 months previously.
General examination is unremarkable, though the patient's urine dipstick is positive for nitrites, leukocytes, and blood. Abdominal ultrasound excludes a posterior urethral valve, though the sonography report describes retrograde flow of urine into the ureters from the bladder.
Given the likely diagnosis, what is the most appropriate first-line investigation?
Micturating cystography is the investigation of choice for reflux nephropathy
MCUG is the gold standard investigation for the diagnosis of vesicoureteric reflux and associated reflux nephropathy.
Patients are catheterised and radio-opaque dye is injected into the bladder.
The patient then voids the contents of their bladder and x-rays are taken.
Reflux of the dye into the ureters confirms the diagnosis of vesicoureteric reflux and reflux nephropathy.
91
A 13-year-old boy presents to general practice complaining of a 6-week history of right groin pain. You notice him walk into the consultation room with an antalgic gait.
He explains this came on after he jumped down from a tree onto his right leg.
On examination, the boy has been in the 90th percentile of weight for many years. He has a reduced ability to internally rotate his right leg when flexed, and it appears slightly shorter than his left.
Given the most likely diagnosis, what is the management?
**Refer to orthopaedics for in situ fixation with a cannulated screw.**
This is the definitive management of a slipped capital femoral epiphysis (SCFE). The clinical picture of obesity, unilateral groin pain, and trauma are indicative of a SCFE. Note that SCFE can occur outside of trauma and 25% of cases are bilateral.
92
A 5-year-old child presents to the emergency department accompanied by the mother with a week history of cough and low-grade fever. The mother describes the cough as barking. She has completed all the vaccinations to date.
On examination, you can observe suprasternal wall retraction at rest, but the child looks alert and reactive. The child produces strident breath sounds at rest.
What is the diagnosis?
What is the causative agent?
What is the most appropriate management plan?
**Croup**
**audible** **stridor** at rest is an indication for admission
**dexamethasone** should be prescribed
parainfluenza
93
A father brings his 7-year-old son into your paediatric clinic as his son has recently been diagnosed with Fragile X syndrome. During the consultation you notice that the boy is sitting quietly, not making eye contact with you when you talk to him. You also observe he has low-set ears, a long thin face and an enlarged mandible. The father is concerned about the possible consequences of a diagnosis of Fragile X syndrome.
What can you tell him is a potential complication of Fragile X syndrome?
**_Features in males_**
learning difficulties
large low set ears, long thin face, high arched palate
macroorchidism
hypotonia
autism is more common
**mitral valve prolapse**
94
A 14-year-old girl presents to her GP due to developmental concerns. She is the shortest girl in her class and has failed to start menstruating. On examination she has cubitus valgus and low-set ears.
Given the likely diagnosis, which chest sign will the GP most likely elicit?
Turner's syndrome is associated with an ejection systolic murmur due to bicuspid aortic valve
95
Management of cerebral palsy
| (3)
## Footnote
as with any child with a chronic condition a multidisciplinary approach is needed
treatments for spasticity include oral diazepam, oral and intrathecal baclofen, botulinum toxin type A, orthopaedic surgery and selective dorsal rhizotomy
anticonvulsants, analgesia as required
96
What is cerebral palsy?
| (2)
Cerebral palsy may be defined as a disorder of movement and posture due to a non-progressive lesion of the motor pathways in the developing brain.
It affects 2 in 1,000 live births and is the most common cause of major motor impairment.
97
Causes of cerebral palsy
| (6)
**antenatal (80%):**
* cerebral malformation
* congenital infection (rubella, toxoplasmosis, CMV)
**intrapartum (10%):**
* birth asphyxia/trauma
**postnatal (10%):**
* intraventricular haemorrhage
* meningitis
* head-trauma
98
Classifications of cerebral palsy
**_spastic_ (70%)**
* subtypes include hemiplegia, diplegia or quadriplegia
* increased tone resulting from damage to upper motor neurons
**_dyskinetic_**
* caused by damage to the basal ganglia and the substantia nigra
* athetoid movements and oro-motor problems
**_ataxic_**
* caused by damage to the cerebellum with typical cerebellar signs
99
A 41-year-old multiparous woman has a dating scan at 11 weeks gestation.
A live fetus is seen, but with multiple abnormalities including choroid plexus cysts, clenched hands, rocker bottom feet and small placenta.
What is the most likely abnormality?
**A baby is born with**
* micrognathia
* low-set ears
* rocker bottom feet
* overlapping of fingers
**Edward's syndrome**
100
A 9-year-old girl is brought in by her mother for symptoms of upper respiratory tract infection.
You notice during examination that there are multiple bruises on her shins with parallel pattern.
Of the following, which is more common in child physical abuse?
The most common fractures associated with child abuse are:
- Radial
- Humeral
- Femoral
101
The most common fractures associated with child abuse are:
- Radial
- Humeral
- Femoral
102
An oral rotavirus vaccine has recently been introduced into the NHS immunisation schedule.
When should it be given?
The oral rotavirus vaccine is given at 2 months + 3 months
103
A psychiatrist diagnosesh attention-deficit hyperactivity disorder (ADHD) and starts him on methylphenidate (Ritalin).
Which of the following parameters must be monitored every 6 months in this patient?
**Methylphenidate**, a stimulant, may suppress appetite and cause growth impairment in children. It is advised to monitor growth as well as blood pressure and pulse in these patients on a regular basis.
104
A 2-year-old boy is admitted to the paediatric ward with suspected Kawasaki disease.
On presentation to the emergency department, he had a 6 day fever, dry cracked lips, bilateral conjunctivitis and peeling of his fingers and toes.
Addition of which of the following would be supportive of diagnosis?
(5)
Kawasaki disease is a rare condition mainly seen in children under 5-years-old. It is classified by a fever which is present for 5 days or more along with 4 of the following features:
* Dry cracked lips
* Bilateral conjunctivitis
* Peeling of skin on fingers and toes
* Cervical lymphadenopathy
* Red rash over trunk
105
You are called to see a 2 day-old neonate who was born 1 week premature following a premature rupture of membranes.
He has failed to pass meconium in the first 24 hours and has begun vomiting.
You witness one episode of vomiting during the examination which is stained green, which you suspect is bile.
On examination he is irritable with an obvious distension of the abdomen but is apyrexial with normal oxygen saturations.
Palpation of the abdomen causes further irritation but you are unable to feel any discrete mass.
What is the most likely underlying condition?
Cystic fibrosis
This history is suggestive of a meconium ileus, a small bowel obstruction caused by thickened meconium which is secondary to cystic fibrosis. This typically presents with the neonate not passing meconium with a distended abdomen. Vomiting may be bilious, which is in contrast to pyloric stenosis which does not contain bile. There is also no mass suggestive of intussusception or pyloric stenosis.
106
Imaging shows that the baby has a right ventricular hypertrophy, a ventricular septal defect and a displaced aorta. Further imaging is requested.
Given the likely diagnosis, what type of murmur would you expect in this child?
Tetralogy of Fallot: **Cyanosis** or collapse in first month of life, **hypercyanotic** spells.
**Ejection systolic murmur at left sternal edge**
107
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.
108
A 3-year-old child presents to his general practitioner for his immunisations. He has completed all the immunisations scheduled up to his age and had no adverse reaction to any vaccination. He is otherwise well and he is of normal weight and height for his age. There is no relevant past medical history. His parents moved from India six years ago.
Which vaccines should the doctor administer to the child today?
3-4 years immunisations: MMR + DTaP + IPV
109
A 7-month-old infant is brought to the emergency department with a 2 day history of vomiting and diarrhoea. Vomit and stools are both unremarkable. His father describes the infant as lethargic and unsettled for the last 3 days. The infant has also had 6 episodes of uncontrollable crying where he draws his legs up to his chest for a few minutes at a time. He is afebrile. On examination the infant appears pale and lethargic and a small mass is palpated in the right upper quadrant. You decide to investigate with a plain abdominal x-ray which shows no sign of obstruction and an ultrasound scan which shows a target sign. What is the most likely diagnosis?
Legs to chest - intussecept
110
A 30-year-old woman attends an ultrasound scan at 36 weeks due to gestational diabetes. This shows a breech presentation. She has a successful external cephalic version (ECV) at 37 weeks and her baby is born vaginally at 40+5 weeks. On the initial postnatal check, both Ortolani's and Barlow's tests are negative. Mums' blood glucose levels return to normal after birth.
Which of the below investigations will be required?
All breech babies at or after 36 weeks gestation require USS for DDH screening at 6 weeks regardless of mode of delivery
111
A 30-year-old woman attends an ultrasound scan at 36 weeks due to gestational diabetes. This shows a breech presentation. She has a successful external cephalic version (ECV) at 37 weeks and her baby is born vaginally at 40+5 weeks. On the initial postnatal check, both Ortolani's and Barlow's tests are negative. Mums' blood glucose levels return to normal after birth.
Which of the below investigations will be required?
All breech babies at or after 36 weeks gestation require USS for DDH screening at 6 weeks regardless of mode of delivery
112
A 30-year-old woman attends an ultrasound scan at 36 weeks due to gestational diabetes. This shows a breech presentation. She has a successful external cephalic version (ECV) at 37 weeks and her baby is born vaginally at 40+5 weeks. On the initial postnatal check, both Ortolani's and Barlow's tests are negative. Mums' blood glucose levels return to normal after birth.
Which investigation will be required?
All breech babies at or after 36 weeks gestation require USS for DDH screening at 6 weeks regardless of mode of delivery
113
A 3-month-old presents to the emergency department and is diagnosed with a urinary tract infection (UTI). She responds well to antibiotic treatment within the following 48 hours. An ultrasound would need to be arranged depending on likelihood that this episode is a typical or atypical UTI.
Which features are an indication of an atypical UTI?
Features of atypical UTI:
* Seriously ill
* Poor urine flow
* Abdominal or bladder mass
* Raised creatinine
* Septicaemia
* Failure to respond to treatment with suitable antibiotics within 48 hours
* Infection with non-E. coli organisms.
114
Features of atypical UTI:
* Seriously ill
* Poor urine flow
* Abdominal or bladder mass
* Raised creatinine
* Septicaemia
* Failure to respond to treatment with suitable antibiotics within 48 hours
* Infection with non-E. coli organisms.
115
A mother brings her 4-week-old daughter to your GP. Her daughter has been unwell with coryzal symptoms for the past two weeks. She has now developed a cough which had caused concern. The mother describes coughing followed by periods in which the child stops breathing and turns blue. The child appears lethargic.
What is the most likely causative organism in this illness?
Infants with pertussis may present with apnoeas rather than the classic whoop
Bordetella pertussis
116
A neonate is delivered via category II emergency caesarean section at 37+3 weeks for failure to progress in labour at 5cm dilatation.
At delivery, the obstetrician notes the baby is delivered with the cord wrapped around its neck and appears floppy and 'blue'. She immediately hands the baby to the neonatal team who begin resuscitation.
Initial APGAR score is 3 which is repeated at 10 minutes and is 5 (due to cyanosis, heart rate of 120 bpm, minimal response to stimulation, poor tone, slow and irregular respiratory effort with a respiratory rate of 12/min).
What is the most appropriate management of this neonate to reduce hypoxic ischemic encephalopathy (HIE)?
Therapeutic cooling at 33-35 degrees attempts to reduce the chances of severe brain damage in neonates with hypoxic injury
Therapeutic cooling is the most appropriate option here. This involves cooling the neonate to around 33.5 - 34.5ºC for 72 hours within a six hour window of the hypoxia inducing event/birth. The neonate will be placed in a cooling blanket (for whole body cooling) or cooling cap (for selective brain cooling).
Lowering core body temperature will slow the metabolic rate and allow cells more time to recover from the hypoxic insult. It has been shown to positively impact nitric oxide production, cerebral metabolism and perfusion, cerebral energy, and apoptosis in infants with HIE.
117
What is the investigation of choice to look for renal scarring in a child with vesicoureteric reflux?
Radionuclide scan using dimercaptosuccinic acid (DMSA)
118
What is the difference between micturating cystourethrogram and a DMSA scan?
micturating cystourethrogram is used to diagnose vesicoureteric reflux
a DMSA scan may also be performed to look for renal scarring
119
A 2-month-old girl is brought to the emergency department with her father. Her father reports a 2 hour history of a non-blanching rash over her body. He reports that in the past 24 hours she has seemed unsettled, refusing feeds and crying more often than usual.
Observations reveal a temperature of 38.6ºC and examination confirms the non-blanching petechial rash with generalised hypotonia. Examination also reveals a bulging anterior fontanelle.
Given the most likely diagnosis and following appropriate investigation, which of the following would be the most appropriate initial management option?
This clinical picture points to a diagnosis of acute bacterial meningitis.
In a child younger than 3 months old, the most appropriate treatment option here would be IV cefotaxime and IV amoxicillin.
Do not use corticosteroids in children younger than 3 months with suspected or confirmed bacterial meningitis
120
A 32-year-old woman gives birth to a baby boy at 39 weeks gestation in a ventouse (vacuum-assisted) delivery.
Shortly after, she asks one of the doctors to review her baby, concerned about a swelling on his forehead.
On examination, the neonate has a soft, puffy swelling overlying the vertex. It appears to cross suture lines.
Given the most likely diagnosis, which of the following is the best advice to give to the mother?
Caput succedaneum is a puffy swelling that usually occurs over the presenting part and crosses suture lines
The diagnosis here, given that the swelling crosses suture lines and occurred following traumatic delivery (ventouse) is caput succedaneum. The most appropriate advice to give the mother is that it resolves within a few days - no intervention is necessary.
121
A 35-week neonate is admitted to the neonatal intensive care unit. They were born via emergency Caesarean section to a 16-year-old mother in preterm labour. The mother was a late booker to antenatal health services and her antenatal history including significant tobacco and alcohol use. On examination, the baby has intestinal loops protruding through a hole in the abdomen to the left of the umbilicus. What is the most likely diagnosis?
Gastroschisis is associated with socioeconomic deprivation (maternal age \<20, maternal alcohol/tobacco use)
Gastroschisis and omphalocele present similarly, but gastroschisis refers to a defect lateral to the umbilicus whereas omphalocele refers to a defect in the umbilicus itself.
122
You see a 10-year-old girl who has asthma. She has used a salbutamol inhaler for the last 12 months. She finds that she needs it when she is running outside, particularly in cold weather. Her mum is concerned as over the last 6 months she is needing to use it more frequently and has needed to use it a night. She has noticed that she sometimes wakes up coughing and her wheeze is worse in the morning. On average she is using her inhaler 3-4 times a week.
You examine the patient and there are no abnormalities.
You want to step up her treatment. What is the most appropriate next step?
Child aged \< 5 years with asthma not controlled by a SABA - asthma management in children \< 5 years - 8 week trial of a paediatric moderate-dose ICS
123
The major risk factors for SIDS
| (5)
prone sleeping
parental smoking
bed sharing
hyperthermia and head covering
prematurity
124
A 4-hour-old neonate born at 39 weeks gestation is being seen on the postnatal ward. She was noted to be jittery by the midwives and appeared to have irregular respirations. Her mother had gestational diabetes.
A heel prick blood glucose measurement at 4-hours-old revealed the following:
Glucose1.1 mmol/L(1.5 – 6)
She is otherwise healthy, with no birth complications or other symptoms.
What is the most appropriate next step in the management of the newborn?
**Neonatal** **hypoglycaemia**: if symptomatic or very low blood glucose admit to neonatal unit and give IV 10% dextrose
125
An obese 14-year-old boy presents with difficulty running and mild knee and hip pain. There is no antecedent history of trauma. On examination internal rotation is restricted but the knee is normal with full range of passive movement possible and no evidence of effusions. Both the C-reactive protein and white cell count are normal.
What is the diagnosis?
**Slipped upper femoral epiphysis** is the commonest adolescent hip disorder.
It occurs most commonly in obese males.
It may often present as knee pain which is usually referred from the ipsilateral hip.
The knee itself is normal.
The hip often limits internal rotation.
The diagnosis is easily missed.
X-rays will show displacement of the femoral epiphysis and the degree of its displacement may be calculated using the Southwick angle.
Treatment is directed at preventing further slippage which may result in avascular necrosis of the femoral head.
126
A 6-year-old boy presents with pain in the hip it is present on activity and has been worsening over the past few weeks. There is no history of trauma. He was born by normal vaginal delivery at 38 weeks gestation On examination he has an antalgic gait and limitation of active and passive movement of the hip joint in all directions. C-reactive protein is mildly elevated at 10 but the white cell count is normal.
What is the diagnosis?
This is a typical presentation for **Perthes disease**.
X-ray may show flattening of the femoral head or fragmentation in more advanced cases.
127
A 30-year-old man presents with severe pain in the left hip it has been present on and off for many years. He was born at 39 weeks gestation by emergency caesarean section after a long obstructed breech delivery. He was slow to walk and as a child was noted to have an antalgic gait.
He was a frequent attender at the primary care centre and the pains dismissed as growing pains. X-rays show almost complete destruction of the femoral head and a narrow acetabulum.
What is the diagnosis?
Developmental dysplasia of the hip. Usually diagnosed by Barlow and Ortolani tests in early childhood. Most Breech deliveries are also routinely subjected to USS of the hip joint. At this young age an arthrodesis may be preferable to hip replacement.
128
A mother brings her 8-year-old son to the GP with concerns about his recent behaviour. He is taking little interest in other children in his class at school, and is usually off playing by himself. He is doing very well in his schoolwork, despite failing to do what he's told and often getting into trouble. She is worried that her son may be showing signs of autism.
Which of the following would make you consider an alternative diagnosis?
Autism is normally apparent by the age of 3 years
129
A newborn male baby is found to have an undescended right testicle during the routine 6-8 week examination.
It is neither palpable in the scrotum or inguinal canal.
What is the most appropriate management?
Unilateral undescended testicle - review at 3 months - if persistent refer
If the testicle has not descended by around 3 months then referral should be considered for orchidopexy.
130
The neonatal junior doctor has been asked to review a 3 hour old term baby by the midwife. There were no antenatal concerns and the mother had not been on any medication antenatally, and is keen to breastfeed. The midwife was concerned because the baby appeared lethargic and had not latched to the breast as yet. She has taken a heel prick blood sugar test from the baby.
Glucose2.3 mmol/L(4.0-5.9)
On examination the baby was easily rousable and appeared to be rooting. He had a good suck and handled well. He had a normal tone, was not jittery and cardiovascular examination was normal. He had not yet passed urine or opened his bowels.
What should the neonatal junior doctor do as the first step in her management plan of this baby?
Ask the breastfeeding support team to come and support mum and baby with attempting a further feed now
131
An 18-month-old boy is brought to the GP by his mother as she is concerned about his breathing. Three days ago he started with fever, cough and rhinorrhoea.
For the past 24 hours his mother reports that he has been 'wheezy'. On examination his temperature is 37.9ºC, heart rate 126/min, respiratory rate 42/min and a bilateral expiratory wheeze is noted.
You prescribe a salbutamol inhaler along with a spacer. Two days later the mother represents noting the inhaler has made little difference to the wheeze.
Clinical findings are similar, although his temperature today is 37.4ºC. What is the most appropriate next step in management?
**Oral montelukast or inhaled corticosteroid**
## Footnote
This child is likely to have a viral-induced wheeze, also known as **episodic viral wheeze.**
First-line treatment is short-acting bronchodilator therapy.
If this is not successful then either oral montelukast or inhaled corticosteroids should be tried.
132
An 8-week-old boy is brought to see his general practitioner as his parents are worried that one of his testes remains undescended.
His parents report an uncomplicated pregnancy and birth, with the patient being born at term. He has been well since birth.
Examination reveals that the left testicle is absent from the scrotal sac, unretractile and impalpable in the abdomen. The right testicle has fully descended.
Based on the above information, what is the most appropriate next stage in this patient's management?
review in one month
133
A 28-year-old primiparous woman who is 20 weeks pregnant presents after her foetal anomaly scan.
The scan showed polyhydramnios and a midline sac containing bowel.
She takes no regular medications and has no significant past medical history.
She was planning on having a home birth and would like to know how this will affect her delivery.
Which of these is the most appropriate plan of action for this condition?
If an unborn has exomphalos then caesarean section is indicated to reduce the risk of sac rupture
134
Features of cow's milk protein intolerance
(6)
regurgitation and vomiting
diarrhoea
urticaria, atopic eczema
'colic' symptoms: irritability, crying
wheeze, chronic cough
rarely angioedema and anaphylaxis may occur
135
Diagnosis of cows milk protein intolerence
(2)
Diagnosis is often clinical (e.g. improvement with cow's milk protein elimination). Investigations include:
* skin prick/patch testing
* total IgE and specific IgE (RAST) for cow's milk protein
136
Management of cow's milk protein intolerence
(5)
**Management if formula-fed**
* extensive hydrolysed formula (eHF) milk is the first-line replacement formula for infants with mild-moderate symptoms
* amino acid-based formula (AAF) in infants with severe CMPA or if no response to eHF
*around 10% of infants are also intolerant to soya milk*
**Management if breastfed**
* continue breastfeeding
* eliminate cow's milk protein from maternal diet. Consider prescribing calcium supplements for breastfeeding mothers whose babies have, or are suspected to have, CMPI, to prevent deficiency whilst they exclude dairy from their diet
* use eHF milk when breastfeeding stops, until 12 months of age and at least for 6 months
137
Prognosis of cow's milk protein intolerance
(3)
**CMPI usually resolves in most children**
## Footnote
in children with IgE mediated intolerance around 55% will be milk tolerant by the age of 5 years
in children with non-IgE mediated intolerance most children will be milk tolerant by the age of 3 years
a challenge is often performed in the hospital setting as anaphylaxis can occur.
138
