Paediatrics Flashcards
In X-linked Recessive disease, what are the chances of the a heterozygous female having a female offspring who is a carrier?
50% of female - carriers
50% of male- affected
What is Turner syndrome?
Turner’s syndrome is a chromosomal disorder affecting around 1 in 2,500 females. It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. Turner’s syndrome is denoted as 45,XO or 45,X.
Features of Turner syndrome?
Physical features: short stature, shield chest, widely spaced nipples, webbed neck, high-arched palate, short fourth metacarpal, cubitus valgus, multiple pigmented naevi
CVD: bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
Sexual function: primary amenorrhoea
Neonatal: cystic Hygroma (often diagnosed prenatally), lymphoedema in neonates (especially feet)
IX: gonadotrophin levels will be elevated
hypothyroidism is much more common in Turner’s
horseshoe kidney: the most common renal abnormality in Turner’s syndrome
ABCD - Amennorhea, below normal height, CHD, Dysmorphism
Additional features: patients are a wide carrying angle, down-sloping eyes with partial ptosis, and low posterior hairline.
What is the frequency of toiletting in children in different age groups
Generally frequent of opening bowel ↓ as age increases
Common causes of constipation in kids
- Idiopathic (Majority)
- Dehydration
- Low-fibre diet
- Medications (Eg: Opiates)
- Anal fissure
- Over-enthusiastic potty training
- Hypothyroidism
- Hirschsprung’s disease
- Hypercalcaemia
- Learning disabilities
Red flags of constipation
Failure to pass meconium within 24h of life - Hirschsprung disease
Faltering growth / Growth failure- Hypothyroidisim, coeliac disease
Gross abdominal distension- Hirschsprung disease and other GI dysmobility
Abnormal lower limb neurology / deformity (Eg: Talipes / Secondary urinary incontinence) - Lumbosacral pathology
Sacral dimple above natal cleft - Spinal Bifida Occulta Over the spine there is: • Naevus • Hairy patch • Central pit • Discoloured skin
Abnormal appearance / postion / patency of anus
Perianal bruising / multiple fissures - Abnormal anorectal anatomy
Perianal fistulae / abscesses / fissures - Perianal Crohn’s disease
Examination findings of constipated child
o Normal growth
o Soft abdomen
o Abdominal distension that is normal for age
o Normal appearance & positions of back and perianal area
o Palpable soft faecal mass (Maybe) - not required fro diagnosis
DRE SHOULD NOT BE PERFORMED:
o But may sometimes considered by a paediatric specialist to identify:
Anatomical abnormalities
Hirschsprung disease
Treatment for constipation
- Disimpaction/ mild symptom control :
Movicol (Disimpaction regimen - increase dose every 1-2 wks)
+ senna (if not adequate with just movicol) - Long term laxative therapy - maintenance
Movicol - 6mths
Asthma treatment in children 5-16y old
- SABA
- SABA + paediatric low dose ICS
- SABA+ paediatric low dose ICS+ LTRA
- SABA + paediatric low dose ICS + LABA
- SABA + switch ICS/LABA for MART
- SABA + paediatric moderate dose ICS MART/mixed dose of moderate-dose ICS+ separate LABA
- SABA + high dose ICS/ Theophylline/ seek advice from healthcare professional
Asthma treatment in children <5y olds
- SABA
- SABA + 8 week trial of moderate dose inhaled corticosteroid
If symptoms did not resolve - consider alternate Dx
If symptoms resolve but reoccur within 4wks stopping ICS - restart ICS at paediatric low dose
If symptoms resolved but reoccur> 4wks stopping ICS - repeat 8-week trial of paediatric moderate dose of ICS - SABA+ paediatric low dose ICS+ LTRA
- Stop LTRA+ reer to paediatric asthma specialist
NO MART USAGE IN <5y OLD!!!!!!!
What is the commonest cause of stridor in children?
Croup/ Acute laryngotracheobronchiolitis
• Commonly affect children aged 6mths to 6yrs
Occurs mostly in autumn
How to differentiate croup from other infection such as laryngotracheitis?
Similar as acute laryngotracheitis BUT lack usual signs of infection; eg:
Fever
Sore throat
↑WBC
Types of croup and causes
Viral croup: Acute laryngotracheitis, spasmodic croup
Causes: parainfluenza virus, Influenza A/B, Measeles, Adenovirus and RSV
Bacterial croup: Laryngeal diphtheria due to Corynebacterium diphtheria
Common secondary bacterial after viral infection inc:
S. aureus (Most commonly cause bacterial tracheitis)
What is the most common DDx for Croup and how do you differentiate?
Need to differentiate viral croup & acute epiglottitis
If patients present severely – consider epiglottitis!!! (Respiratory distress usually mild in croup) Coryzal symtpoms present in croup Fever not present in croup cyanosis uncommon in croup mouth drooling present in epiglottitis
Precautions when examining patients with croup?
DON’T examine the throat (Risk of airway obstruction)
For BOTH croup & acute epiglottitis
How is croup diagnosed?
Diagnosed based on History + Examination
Take a careful assessment of severity inc:
Degree of stridor & subcostal recession
RR
HR
LOC (drowsiness) / Tiredness / Exhaustion
SpO2
Symptoms of mild croup
- Seal-like barking cough
- NO stridor
- No sternal/intercostal recession at rest
General symptoms of croup
S&S o “Barking” cough (Acute – often in middle of night) o Stridor (Usually nosiest when upset) o Hoarse voice o Coryzal (For preceding days)
• In spasmodic / recurrent croup (A subgroup of viral croup):
o Usually seen in:
Older children
Atopic children
o May have no precipitating respiratory infection
S&S
o “Barking” cough
o Hyperreactive upper airways
o + NO apparent respiratory tract symptoms
Symptoms of moderate croup
- Seal-like barking cough
- Stridor at rest
- Sternal recession at rest
- NO agitation
- NO lethargy
Symptoms of severe croup
- Seal-like barking cough
- Stridor at rest
- Sternal/intercostal recession at rest
- Agitation / lethargy
Symptoms of croup - Impending Respiratory Failure
↑-ing upper airway obstruction - Stridor
+ Sternal/intercostal recession
Degree of recession may ↓ as the child becomes tired
+Asynchronous chest wall & abdominal movement
+ Fatigue
+ Pallor / Cyanosis
***RR > 70breaths/min = Indicative of severe respiratory distress
Hospital admission strategy for croup patients
ADMIT:
o Moderate
o Severe
o Impending respiratory failure
CONSIDER ADMISSION:
• For children with RR > 60 breaths / min
• Mild illness but with:
o Chronic lung disease (inc bronchopulmoanry dysplasia)
o Haemodynamically sig congenital heart disease
o Neuromuscular disorders
o Immunodeficiency
o Age <3mths
o Inadequate fluid intake
o Poor carer’s ability
o Longer distance to healthcare in case of deterioration
Management of Croup
1) Assess severity
2) Admit?
3) Treat:
Before hospital = Oral dexamethasone/ prednisolone
At hospital = O2 (if sats low); inhaled budenoside / IM dexamethasone if the oral pred not given
Not getting btr = high flow oxygen + Nebulized adrenaline
Very severe = Intubation
First line treatment for croup
CKS recommend giving a single dose of oral dexamethasone (0.15mg/kg) to all children regardless of severity
Treatment for acute epiglottitis
- Intubation
* Antibiotics
What is APGAR Score?
The Apgar score is a method to quickly summarise the health of newborn children against infant mortality
Appearance, Pulse , Grimace, Activity, Respiration (AGPAR)
Skin colour, pulse rate, reflex irritability grimace, muscle tone, respiratory effort
≥7 Normal
4-6 Fairly low
≤3 Critically low & Need immediate resuscitative efforts
What are the signs of a healthy newborn?
A healthy newborn will be pink with good tone and will cry within seconds of being delivered. The heart rate of a healthy newborn infant is 120-150bpm. This infant has poor tone, is gasping for air and a low heart rate. As no changes are noted on reassessment and the heart rate has fallen this warrants compressions.
What is the newborn resuscitation protocol?
Newborn resuscitation
- Dry baby and maintain temperature
- Assess tone, respiratory rate, heart rate
- If gasping or not breathing give 5 inflation breaths*
- Reassess (chest movements)
- If the heart rate is not improving and <60bpm start compressions and ventilation breaths at a rate of 3:1
*Inflation breaths are different from ventilation breaths. The aim is to sustain pressure to open the lungs.
Reassess heart after every 30 seconds. If HR is undetectable consider venous access and drugs • Assess & reassess every 30s: o Tone o Breathing rate o HR
Physiology behind hypoxia in new borns
Passage thru birth canal causes hypoxia for fetus:
Because significant respiratory exchge at placenta is prevented for 50-75s during each contraction
1) If sufficient hypoxia in utero, fetus ↑ RR
2) If hypoxia continues, fetus loses consciousness
3) Then neural centres controlling breathing cease to fx = Primary apnoea
(Until now, HR remains unchg)
(*In newborn, HR doesn’t ↑ when hypoxic!)
4) HR ↓ to ~half the normal rate
Because myocardium reverts to anaerobic metabolism (also leads to metabolic acidosis)
5) If the hypoxia continues, shuddering initiated by primitive spinal centres:
Shuddering = Whole-body gasps at ~12times/min
6) If shuddering fails to aerate the lungs (eg: Due to fetus still in utero), shuddering stops
7) Fetus enters Secondary / Terminal apnoea
(Until now, circulation is maintained)
8) The metabolic acidosis starts impairing cardiac fx
9) Heart fails
***The whole process takes ~20mins in term newborn human baby
Why Aerating the lungs > important than Circulation?
By aerating lungs sufficiently: (Given that circulation is preserved (in most cases))
1) Oxygenated blood from lung to heart
2) HR ↑
3) Perfuse brain with oxygenate blood
4) Neural centres for normal breathing restore
5) Baby recovers
When cardiac fx deteriorated & circulation compromised:
o Chest compression
o Drugs (if chest compression NOT enuf) – Poor prognosis for the infants
Neonatal physiological reaction to asphyxia
Neonates react to birth asphyxia by maintaining tissue aerobiosis as long as possible by:
↓ Body temperature
↓ HR & redistribution of circulation (Hence newborn HR doesn’t ↑ during asphyxia!)
↓ RR (Hypoxic hypometabolism)
↓ Blood pH (Acidotic torpidity)
Pathogenesis of osetochondritis dissecans
- An area of subchondral bone becomes avascular & fragments
- The fragments separate from underlying bone
Epidemiology of osetochondritis dissecans
Most common age of presentation is between 12 and 19 years2 (age of presentation is decreasing likely due to the decreasing age of children participating in active sports )
• Boys > Girls
Risk factors for osetochondritis dissecans
Trauma Male Genetic Iscahemia Abnormal epiphyseal ossification
Symptoms of osetochondritis dissecans
Patients typically present with a subacute onset of:
Knee pain and swelling, typically after exercise, BUT NO Hx of Acute trauma or Injury
Knee catching, locking and/or giving way - more constant and severe symptoms are associated with the presence of loose bodies - intermittent swelling and locking
Feeling a painful ‘clunk’ when flexing or extending the knee - indicating the involvement of the lateral femoral con
Investigations for osetochondritis dissecans
Investigations:
X-ray (anteroposterior, lateral and tunnel views) - may show the subchondral crescent sign or loose bodies
MRI - used to evaluate cartilage, visualise loose bodies, stage and assess the stability of the lesion
CT - may be used in preoperative planning and in cases where MRI is not available or contraindicated
Scintigraphy - may be used to guide treatment as it may show increased uptake in the fragments - a sign of osteoblastic activity
Prognosis of osetochondritis dissecans
Risk of articular fracture with separation & loose body formation ↑ if:
↑ Age
Large lesions
At weight-bearing location
Worse prognosis with large lesions in lateral femoral condyle in older children
Common sites affected in osetochondritis dissecans
Most commonly affect lateral aspect of medial femoral condyle; but may also occur in other major joints; eg: o Elbow (Capitellum) o Lateral condyle of patella (Less common)
Causes of Acute epiglottitis
• Haemophilus influenza type b
children between the ages of 2 and 6 years
• Rare now (due to routine HiB immunization)
Typical features of of Acute epiglottitis
Features rapid onset high temperature, generally unwell stridor drooling of saliva
Presentation of Acute epiglottitis
- High fever
- Child rapidly become unwell
- Missed immunization for HiB
• Symptoms:
o Dysphagia
o Sore throat
• Signs: o Flushed o Drooling o Toxic-looking o Sitting upright (in tri-pod position) o With soft stridor
Management of Acute epiglottitis
- Endotracheal intubation
- Then managed in intensive care unit
- Take blood cultures
- Start IV antibiotics:
o 2nd / 3rd generation cephalosporin IV for 7-10d:
Cefuroxime
/Ceftriaxone
/Cefotaxime - Prophylaxis to close contacts:
o Rifampicin
Risk factors of DDH
FH (1:5) Female > Male (5:1) Left > Right (1.5:1) First born child Racial predilection; ↓ risk in: African Americans Southern Chinese Breech presentation Oligohydramnios Birth weight > 5 kg Congenital calcaneovalgus foot deformity
Fat, female, first born , foot-first and family history
Association of DDH with other conditions
o Torticollis (20%) o Metatarsus adductus (10%) o Talipes calcaneovalgus o Teratologic disolication o Down’s syndrome
Screening for DDH
The following infants require a routine ultrasound examination:
- First-degree family history of hip problems in early life
- Breech presentation at or after 36 weeks gestation, irrespective of presentation at birth or mode of delivery
- Multiple pregnancy
All infants are screened at both the newborn check and also the six-week baby check using the Barlow and Ortolani tests
Ix for DDH
• US = To confirm the Dx; 6 wks scan for:
o All breech presentation
o +ve Barlow & Ortolani duing newborn screening
If >4.5mth old child with suspected DDH - perform X-ray
management of DDH
- Most unstable hips spontaneously stabilize by 3-6 wks of age!
- If younger than 4-5 mths = Pavlik harness (Dynamic flexion-abduction orthosis)
- If older children = Require surgery
Features of Pierre Robin syndrome? And how do you you differentiate it from treacher collins syndrome?
- Micrognathia
- Posterior displacement of tongue (May result in upper airway obstruction)
- Cleft palate
Very similar to Treacher-Collins syndrome
o 1 Key difference = Treacher-Collins syndrome is AD (So usually FH of similar problems!)
o Pierre-Robin usually –ve FH!
Features of Fragile X syndrome
X-linked dominant disease - FMR 1 gene
Features in males:
Learning difficulties - very common feature
Large low set ears, long thin face, high arched palate
Macroorchidism
Hypotonia
Autism is more common
Mitral valve prolapse - heart defect
generalised seizures also common
Features in females (who have one fragile chromosome and one normal X chromosome) range from normal to mild
Diagnosis of Fragile X syndrome
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
A 4-year-old boy is noted to have macrocephaly and learning difficulties. What is the most likely diagnosis?
Fragile X syndrome
A 7 month old girl presents with vomiting and diarrhoea. She is crying and drawing her legs up. There is a a sausage shaped mass in the abdomen.
Intussusception
Sausage shaped mass (colon shaped) is common in intussusception. The other common sign is red jelly stool.
A 48 hour old neonate develops increasing abdominal distension. He had a normal delivery but has yet to pass any meconium. Following digital rectal examination liquid stool is released.
Hirschsprung disease
Hirschsprungs may present either with features of bowel obstruction in the neonatal period or more insidiously during childhood. After the PR there may be an improvement in symptoms. Diagnosis is by full thickness rectal biopsy.
A 1 month old baby girl presents with bile stained vomiting. She has an exomphalos and a congenital diaphragmatic hernia.
Exomphalos and diaphragmatic herniae are commonly associated with malrotation.
What is the commonest abdominal emergency in children?
Acute appendicitis
Presentation of acute appendicitis
• Periumbilical pain moving to RIF pain:
o Aggravated by movement
o Child may prefer to lie still + knees flexed
• Mild fever (Usually)
• Guarding:
o Due to peritoneal irritation causing involuntary spasm in muscles of the abdominal wall
Diagnosing Acute appendicitis
- Dx of appendicitis = Clinical
- ‘Classical’ S&S of acute appendicitis seen in 60% of cases
• 30% of children admitted to hospital with abdominal pain have acute appendicitis:
o Only 50-70% of these cases are obvious at initial assessment
o If in doubt, should admit for observation
• Urinalysis:
o Abnormal in ~1/3 children with acute appendicitis
o May have:
Pyuria
Bacteriuria (Avoid staring antibiotics due to suspected UTI!!! Unless there are symptoms of dysuria!!!)
• WCC:
o Normal in 10-20% of children with appendicitis
• US = Ix of choice if clinically in doubt!!!
o Accuracy of diagnosing acute appendicitis ~90%
Management of appendicitis
• Prompt appendicectomy (Paediatric Surgeon!)
• Antibiotics: Piperacillin/tazobactam? (Taken from adult OCHB) (reduces wound infection)
o Longer course for perforation
What age group is intussusception most common in?
- Usually affect infants btwn 6 – 18 mths of age
* 1/500 children
Aetiology of intussusception?
• Viral gastroenteritis (Majority of intussusception!)
• Post-operative:
o In infants
o Typically following nephrectomy
• A polyp / Meckel’s diverticulum:
o Causes pathological lead point
Common sites of intussusception?
o Ileocolic (Commonest!) o Ileo-ileal (Involves 2 different parts of ileum)
Features of intussusception?
Colicky pain, diarrhoea and vomiting, sausage-shaped mass, red jelly stool.
Child appears ill and dehydrated
Spams of colic - pallor, screaming and drawing up legs
Later states of obstruction- Rectal bleeding (‘Red currant jelly stools)
Examination findings of intussusception?
- Sausage-shaped abdominal mass in RUQ (in 30% of cases)
* Blood on rectal examination
Investigation of intussusception?
• AXR:
o Small bowel obstruction
o Occasionally soft tissue mass will be visible
US confirms the diagnosis!!!!
o Target sign (AKA bulls eye)
• Contrast enema:
o Traditional & most reliable way to Dx
Management of intussusception?
Surgical:
• 1st line = Reduction by rectal air insufflation (Pneumatic reduction) under radiological control
o CI = Gangrenous intussusception
o Risk:
Incomplete reduction
Perforation (Dangerous! May develop tension pneumoperitoneum rapidly!)
So prepare 2 cannula in case need to resuscitate!
• 2nd line = Laparotomy:
o If pneumatic reduction fails / CI
o Gangrenous intussusception should be treated with laparotomy
Also if child has signs of peritonitis
o Method:
- Distal bowel gently compressed to reduce intussusception
- If fails = Resection of intussusception
What is Meckel’s diverticulum
o A persistence of embryonic vitelline duct that normally involutes during late foetal development
Presentation of Meckel’s diverticulum?
Majority = Asymptomatic
If symptomatic: (Most common PC):Rectal bleeding!!!!!!: Painless Fresh blood Sufficient to cause ↓ Hb
May then followed by:
Intestinal obstruction
/Volvulus
/Intussusception
Abdominal pain (Maybe) - Sometimes may present similarly to acute appendicitis: Situated in distal ileum So if presence of diverticulitis will lead to periumbilical pain!
Pain- Difficult to distinguish from acute appendicitis!!!!!
DDx for Meckel’s Diverticulum
o Appendicitis
o Diverticulitis
Complications of Meckel’s Diverticulum?
• Haemorrhage - Presence of gastric and pancreatic mucosa –> secretion of gastric acid –> ulceration –> pain and bleeding (due to perforation)
• Intestinal obstruction
• Diverticulitis -
o Periumbilical tenderness
o Intermittent crampy abdominal pain
o Peritonitis (If perforation)
• Umbilical anomalies
• Neoplasm
Ix for Meckel’s Diverticulum
• 99mTc-pertechnetate isotope scan (AKA Meckel’s scan):
o Ix of choice to dx MD
What is the first line treatment if Hirschsprung’s disease is suspected?
Anorectal pull through - Surgical technique to remove the affected bowel
Gold standard investigation to confirm diagnosis of Hirschsprung’s disease
Full thickness rectal biopsy
First line treatment if Hirschsprung’s disease is suspected but not confirmed?
Bowel irrigation and washout to allow the passage of meconium
Pathophysiology of Hirschsprung’s disease
Hirschsprung’s disease is caused by an aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses.
What is the presentation of Hirschsprung’s disease
Possible presentations
neonatal period e.g. failure or delay to pass meconium
older children: constipation, abdominal distension
Risk factors of Hirschsprung’s disease
3 times more common in males
Down’s syndrome
What is the most common cause of massive painless bleeding per rectum children?
Meckel’s diverticulum is the number one cause of painless massive GI bleeding
requiring a transfusion in children between the ages of 1 and 2 years.
Treatment for Meckel’s diverticulum
Removal if narrow neck or symptomatic. Options are between wedge excision or formal small bowel resection and anastomosis.
Which age group is UTI most common in children?
> Common in boys until 3 mths of age (Due to > congenital abnormalities)
If > 3mths old: Incidence substantially higher in girls
What are the features of UTI in infants?
Presentation in childhood depends on age:
Infants: poor feeding, vomiting, irritability
What are the features of UTI in younger children?
Younger children: abdominal pain, fever, dysuria
What are the features of UTI in older children?
Older children: dysuria, frequency, haematuria
Features suggestive of upper UTI
Features which may suggest an upper UTI include: Temperature > 38ºC, loin pain/tenderness
What are the guidelines for checking urine sample in a child?
NICE guidelines for checking urine sample in a child:
- If there are any symptoms or signs suggestive or a UTI
- With unexplained fever of 38°C or higher (test urine after 24 hours at the latest)
- With an alternative site of infection but who remain unwell (consider urine test after 24 hours at the latest)
What is the method of urine collection in children?
Urine collection method:
Clean catch is preferable
If not possible then urine collection pads should be used
Cotton wool balls, gauze and sanitary towels are not suitable
Invasive methods such as suprapubic aspiration should only be used if non-invasive methods are not possible
Mx of UTI if child is <3mths old?
Infants less than 3 months old should be referred immediately to a paediatrician
Mx of UTI if child is >3mths old with suspected upper UTI?
Children aged more than 3 months old with an upper UTI should be considered for admission to hospital.
If NOT admitted = Give oral antibiotics for 7-10d; eg:
o Cephalosporin
o /Co-amoxivlac
Mx of UTI if child is >3mths old with suspected lower UTI?
Treated with oral antibiotics for 3d according to local guidelines; eg: o Trimethorpime o /Nitrofurantoin o /Cephalosporin o /Amoxicillin
Parents should be asked to bring the children back if they remain unwell after 24-48 hours
When do you give prophylactic antibiotics for UTI?
Antibiotic prophylaxis is not given after the first UTI but should be considered with recurrent UTIs
By what age do children achieve day and night continence?
By age 3-4
What is the definition of enuresis?
Enuresis may be defined as the ‘involuntary discharge of urine by day or night or both, in a child aged 5 years or older, in the absence of congenital or acquired defects of the nervous system or urinary tract’
Types of nocturnal enuresis?
Nocturnal enuresis can be defined as either primary (the child has never achieved continence) or secondary (the child has been dry for at least 6 months before)
Supportive management of nocturnal enuresis?
- Look for possible underlying causes/triggers (e.g. Constipation, diabetes mellitus, UTI if recent onset)
- Advise on fluid intake, diet and toileting behaviour
- Reward systems (e.g. Star charts). NICE recommend these ‘should be given for agreed behaviour rather than dry nights’ e.g. Using the toilet to pass urine before sleep
Definitive management of nocturnal enuresis in children less than 7 years of age?
An enuresis alarm is first-line for children under the age of 7 years
Definitive management of nocturnal enuresis in children over than 7 years of age?
Desmopressin may be used first-line for children over the age 7 years, particularly if short-term control is needed or an enuresis alarm has been ineffective/is not acceptable to the family
You are the FY1 on a paediatric ward, one of your patients is a 14-year-old female with anorexia. She is currently refusing to be tube fed. You assess her capacity and deem that she has the capacity to refuse. However, neither of her parents agree with her decision. What do you do?
Inform her that she is under 16 and cannot refuse treatment
The family law reform act of 1969 states that ‘those over 16 can consent to treatment, but cannot refuse treatment under 18 unless there is one consenting parent, even if the other disagrees’.
What are the guidelines for children to provide consent?
- At 16 years or older a young person can be treated as an adult and can be presumed to have capacity to decide
- Under the age of 16 years children may have capacity to decide, depending on their ability to understand what is involved
- Where a competent child refuses treatment, a person with parental responsibility or the court may authorise investigation or treatment which is in the child’s best interests*
What are the Fraser guidelines for provision of contraceptives to patients under 16 years of age?
All the requirements needs to be fulfilled:
The young person understands the professional’s advice
The young person cannot be persuaded to inform their parents
The young person is likely to begin, or to continue having, sexual intercourse with or without contraceptive treatment
Unless the young person receives contraceptive treatment, their physical or mental health, or both, are likely to suffer
The young person’s best interests require them to receive contraceptive advice or treatment with or without parental consent
A 16-year-old girl comes to your GP surgery worried that she has not yet started her periods. She is quite short, has a webbed neck, low set ears and widely spaced nipples. A heart murmur is heard on auscultation. What type of murmur are you most likely to hear?
Turner syndrome is associated with Biscupid aortic valve and coarctation of the aorta
Biscupid aortic valve –> Aortic stenosis –> Systolic murmur loudest at the aortic valve and can be heard at the carotids
What is the genetic abnormality in turner syndrome?
It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. Turner’s syndrome is denoted as 45,XO or 45,X.
Features of turner syndrome ?
Amennorhea - underdeveloped ovaries
Below normal height
CHD–> bicuspid aortic valve, CoA
Dysmorphism: low set ears, webbed neck, shied chest (widely spaced nipples), high arched palate, short fourth metacarpal, cubitus valgus
Conditions associated with Turner syndrome
Increase in autoimmune conditions:
1. Hypothyroidism –> autoimmune thyroiditis
- Horse show kidney –> renal function decreases (the most common renal abnormality in Turner’s syndrome)
- Crohn’s disease
A newborn is due for her hearing screening test. She was born at 36 weeks with no complications during the pregnancy, via a normal vaginal delivery. Which of the following tests is most appropriate to use in a child of this age?
Automated otoacoustic emission test –> A computer generated click is played through a small earpiece. The presence of a soft echo indicates a healthy cochlea
If abnormalities detected —> perform Auditory brainstem response test
Hearing test in 6-9 mth olds?
Distraction test - Performed by health visitor, requires two trained staff
Hearing test in 18 mth-2.5y olds?
Recognition of familiar objects - Uses familiar objects e.g. teddy, cup. Ask child simple questions - e.g. ‘where is the teddy?’
Hearing test in over 2.5y olds?
Performance testing
Speech discrimination tests - Uses similar sounding objects e.g. Kendall Toy test, McCormick Toy Test
Hearing test in over 3y olds?
Pure tone audiometry - Done at school entry in most areas of the UK
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.
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.
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.
This is a typical presentation for Perthes disease. X-ray may show flattening of the femoral head or fragmentation in more advanced cases.
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.
Slipped upper femoral epiphysis (SUFE) 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.
Pathophysiology behind Perthes disease?
Idiopathic osteonecrosis (Avascular necrosis) of femoral head. Impaired blood supply to the femoral head causes bone infarction.
Age group affected by Perthes disesae?
4-8 years
Risk factors of Perthes disease?
- Boys > Girls (5:1) !!!!!!!
- Age 4-10yo
- <20% bilateral (Usually staged + Asymmetric) !!!!!!!!
- FH (10%)
- Low birth weight
- Children with transient synovitis (4%)
- Delayed skeletal maturity
Possible aetiologies of Perthes disease?
Risk factors/Possible causes:
o Trauma
o Endocrine:
Hypothyroidism
Renal disease
Steroid
o Metabolic
o Coagulability Blood dyscrasia Protein C deficiency Protein S deficiency Thrombophilia
Associated conditions with Perthes disease?
ADHD and short stature
Features of Perthes disease?
Painless limp (Classical feature)
IF Hip pain: develops progressively over a few weeks
Mild/intermittent pain in:
Anterior thigh
/Groin
Limp
Stiffness and reduced range of hip movement
Knee pain - always suspect hip pathology!!!!!
What is the most important DDx for Perthes disease and how do you differentiate from it?
SUFE - Slipped upper femoral epiphysis
To distinguish from SUFE:
• Age!!! (SUFE commonest in 10-15yo)
• Risk factors!!! (Overweight / tall thin)
Signs of Perthes disease
Look:
Proximal thigh atrophy: Trendelenburg +ve Mild short stature Limping Antalgic gait (Common)
Feel:
Effusion (due to synovitis)
Groin/thigh tenderness
Move:
↓ Hip range of movement; esp: Abduction, Internal rotation
Muscle spasm
Classical picture of Perthes disease
- 4-10yo
- Progressive
- Pain/Painless limp
- Limited ROM of hip
- Short stature
- ADHD
Investigation for Perthes disease
AP & Lateral Pelvic X-ray = 1st line
o Lateral pillar (Herring) classification – For prognosis
Technetium bone scan or magnetic resonance imaging if normal x-ray and symptoms persist
MRI: (If X-ray NOT conclusive)
o Hlp dx (esp in early stages – Harder to be detected by Xray)
Technetium 99 bone scan:
↓ Uptake in femoral epiphysis due to poor vascular supply
Dynamic arthrography: (Carried out under general anaesthesia)- To delineate hip joint, Plan surgery
Prognosis of perthes disease?
o Bone age
o X-ray appearances
Most cases will resolve with conservative management. Early diagnosis improves outcomes.
Complications of Perthes disease
Osteoarthritis
premature fusion of the growth plates
Names of classification and staging for Perthes disease?
Catterall staging Lateral Pillar (Herring) Classification
What are the X-ray changes in Perthes disease?
Early changes include widening of joint space,
Later changes include decreased femoral head size/flattening
Gage’s Sign
V-shaped radiolucency in lateral portion of epiphysis and/or adjacent metaphysis
Management of Perthes disease?
To keep the femoral head within the acetabulum: cast, braces
<6 yo Observation
> 6 yo Surgical Mx (Moderate results)
Operate on severe deformities -• Femoral / Pelvic osteotomies to contain femoral head in acetabulum
Commonest cause of croup
Parainfluenza virus
When do you admit croup patients?
CKS suggest admitting any child with moderate or severe croup.
Other features which should prompt admission include:
< 6 months of age
Known upper airway abnormalities (e.g. Laryngomalacia, Down’s syndrome)
Uncertainty about diagnosis (important differentials include acute epiglottitis, bacterial tracheitis, peritonsillar abscess and foreign body inhalation)
Who is necrotising enterocolitis more common in?
Incidence increases with prematurity
Pathogenesis of NEC
Bowel of preterm infant –> vulnerable to ischaemic injury –> bacterial invasion
Mesenteric ischaemia leads to bacterial invasion of mucosa –> sepsis
commonly affects : terminal ileum, caecum and distal colo
Risk factors for NEC
Ischaemic injury
bacterial invasion
Fed only cow’s milk formula > fed on breast milk
Presentation of NEC
Typically presets in the first few weeks of life
Early signs: Feeding intolerance Vomiting (may be bile stained) Abdominal distension stool contains blood (sometimes)
Infant may rapidly become shocked: require mechanical ventilation due to abdominal distension/ pain
Complications of NEC
Bowel perforation - detected using AXR/ Translumination of the abdomen
Long-term sequelae - stricture, malabsorption
Gold standard investigation for diagnosis of NEC
Abdominal X-ray
Features of AXR in NEC
- Dilated bowel loops (often asymmetrical in distribution)
- Bowel wall oedema
- Pneumatosis intestinalis (intramural gas) !!!!!!!!- important sign
- 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)
Management of NEC
- Stop Oral feed
- Barrier nursing
- Broad-spectrum antibiotics (GMC: Gentamicin + metronidazole + ceftriaxone)
- Parenteral nutrition - always needed
Prevention of NEC
Supplement milk feeds with prebiotics and probiotics
A 2-week-old infant is brought to the emergency department with abdominal distension and tenderness. The parents describe that there has been a small amount of blood in her nappy and some bilious vomit. Over the last couple of days the parents have noticed decreased movement and that she is struggling to feed.
Relevant history is that she was born at 28 weeks following premature rupture of membranes.
Best Investigation for diagnosis?
AXR to eliminate NEC
Features of childhood sexual abuse in children
- Pregnancy
- Sexually transmitted infections, recurrent UTIs
- Sexually precocious behaviour
- Anal fissure, bruising
- Reflex anal dilatation
- Enuresis and encopresis
- Behavioural problems, self-harm
- Recurrent symptoms e.g. headaches, abdominal pain
Ages of precocious puberty
8 y- females
9y - males
Types of precocious puberty
- Gonadotrophin dependent (‘central’, ‘true’)
due to premature activation of the hypothalamic-pituitary-gonadal axis
FSH & LH raised - Gonadotrophin independent (‘pseudo’, ‘false’)
due to excess sex hormones
FSH & LH low
Cyanotic cardiac conditions in children?(3Ts)
Tetralogy of Fallot
Transposition of the great arteries (TGA)
Tricuspid atresia
Fallot’s is more common than TGA. However, at birth TGA is the more common lesion as patients with Fallot’s generally presenting at around 1-2 months
The presence of cyanosis in pulmonary valve stenosis depends very much on the severity and any other coexistent defects.
Acyanotic cardiac conditions?
- Ventricular septal defects (VSD) - most common, accounts for 30%
- Atrial septal defect (ASD)
- Patent ductus arteriosus (PDA)
- Coarctation of the aorta
- Aortic valve stenosis
VSDs are more common than ASDs. However, in adult patients ASDs are the more common new diagnosis as they generally presents later.
What is the pathogenesis of reflex anoxic seizure?
Reflex anoxic seizure describes a syncopal episode (or presyncope) that occurs in response to pain or emotional stimuli. It is thought to be caused by neurally-mediated transient asystole in children with very sensitive vagal cardiac reflexes.
Age groups affected by reflex anoxic seizure?
6mths - 3 years
Typical features of reflex anoxic seizure?
Typical features:
child goes very pale
falls to floor
secondary anoxic seizures are common
rapid recovery
Epidemiology of biliary atresia?
Females> males
Asians and africans > Caucasians
common within same family
Types of biliary atresia?
Type 1: The proximal ducts are patent, however, the common duct is obliterated
Type 2: There is atresia of the cystic duct and cystic structures are found in the porta hepatis
Type 3: There is atresia of the left and right ducts to the level of the porta hepatis, this occurs in >90% of cases of biliary atresia
Presentation of biliary atresia?
Patients typically present in the first few weeks of life with:
Mild jaundice extending beyond the physiological two weeks
Dark urine and pale stools
Normal brith weight and faltering growth
Hepatolmegaly - presents initially
Splenomegaly - due to portal hypertension
Complications of biliary atresia
Progressive liver disease
Cirrhosis with eventual hepatocellular carcinoma
Investigations for diagnosing biliary atresia?
- Serum bilirubin including differentiation into conjugated and total bilirubin: Total bilirubin may be normal, whereas conjugated bilirubin is abnormally high
- Liver function tests (LFTs) including serum bile acids and aminotransferases are usually raised but cannot differentiate between biliary atresia and other causes of neonatal cholestasis
- Fasting Ultrasound of the biliary tree and liver: May show distension and tract abnormalities. - fast for 8-10 hrs - if not gall bladder may be empty
Dx- confirmed using ERCP !!!!
- Serum alpha 1-antitrypsin: Deficiency may be a cause of neonatal cholestasis
- Sweat chloride test: Cystic fibrosis often involves the biliary tract
- Percutaneous liver biopsy with intraoperative cholangioscopy
Management of biliary atresia?
- Kasai hepatoportoentrostomy - loop of jejunum anastomosed
- Supportive medications - fat soluble vit supplementation
If Kasai unsuccessful –> liver transplantation
Important thing to do when baby suspected to have jaundice
Always check weight less (>10% weight loss from birthweight)
Causes of jaundice in the first 24 hours
Jaundice in the first 24 hrs is always pathological
Causes of jaundice in the first 24 hrs
- Rhesus haemolytic disease
- ABO haemolytic disease
- Hereditary spherocytosis
- Glucose-6-phosphodehydrogenase deficiency (G6PD)
- Pyruvate kinase deficiency
Causes of jaundice in the 2-14 days
Jaundice in the neonate from the c. 2-14 days is common (up to 40%) and usually physiological. It is more commonly seen in breast fed babies
- Physiological jaundice
- Breast milk jaundice
- Infection (UTI)
- Haemolysis
- Bruising
- Polycythemia
- Criggler-Najjar syndrome
What is prolonged jaundice and how is it diagnosed?
Signs of jaundice after 14 days is a prolonged jaundice
Prolonged jaundice screen:
• conjugated and unconjugated bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention
• direct antiglobulin test (Coombs’ test)
• TFTs
• FBC and blood film
• urine for MC&S and reducing sugars
• U&Es and LFTs
What are at risk groups for underestimating jaundice?
Preterm babies
Dark-skin tone
Low threshold to measure SBR for these infants
Causes of prolonged jaundice
Unconjugated
• hypothyroidism
• urinary tract infection
• breast milk jaundice
Conjugated
• biliary atresia
• galactosaemia
• congenital infections e.g. CMV, toxoplasmosis
What causes hand, foot and mouth disease?
Self-limiting condition affecting children
Caused by the intestinal viruses of the Picornaviridae family (most commonly coxsackie A16 and enterovirus 71)
What is the risk factor for hand, foot and mouth disease?
Very contagious and typically occurs in outbreaks at nursery
What are the clinical features of hand, foot and mouth disease?
Clinical features
- mild systemic upset: sore throat, fever
- oral ulcers
- followed later by vesicles on the palms and soles of the feet
Management of hand, foot and mouth disease?
Symptomatic treatment only: general advice about hydration and analgesia
Children do not need to be excluded from school ***
The HPA recommends that children who are unwell should be kept off school until they feel better
They also advise that you contact them if you suspect that there may be a large outbreak.
Cardiac conditions associate with turner syndrome
Turner syndrome (45 XO) is associated with:
Bicuspid aortic valve
Aortic root dilatation
Coarctation of the aorta
What are the prodromal symptoms of measles
3 Cs
1. Cough
2. Coryzal
3 Conjunctivitis - non purulent
+ Koplik spots (Before the rash starts)
What are the potential complications associated with measles
- Otitis media: the most common complication!!
- Pneumonia: the most common cause of death!!!!
- Encephalitis: typically occurs 1-2 weeks following the onset of the illness)
- Subacute sclerosing panencephalitis: very rare, may present 5-10 years following the illness!!!
- Febrile convulsions
- Keratoconjunctivitis, corneal ulceration
- Diarrhoea
- Increased incidence of appendicitis
- Myocarditis
Describe spread of rash in measles
Starts behind ears then to whole body, discrete maculopapular rash becoming blotchy & confluent
Investigation for diagnosing measles
IgM antibodies - can be detected within a few days of rash onset
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?
Pneumonia - immediately after infection
What is the infectivity period of measles
prodrome - 4 days post-rash
Management of measles
supportive and Abx for secondary infections
Vitamin A supplementation - prevent complications such as otitis media, viral pneumonia, encephalitis, or corneal ulceration.
A 7-year-old boy presents to the GP with a 4-day history of a sore throat, fever of 38.1ºC and lymphadenopathy. On examination, the patient’s tongue is very red. The patient also has a rough rash on their skin.
Scarlet fever
This patient is most likely presenting with scarlet fever. The rough rash this patient has presented with is said to feel like sandpaper which is a characteristic feature of scarlet fever.
What are the symptoms of scarlet fever
fever: typically lasts 24 to 48 hours malaise, headache, nausea/vomiting sore throat 'strawberry' tongue sandpaper rash - torso first
Describe the rash seen in scarlet fever
Fine punctate erythema (‘pinhead’) which generally appears first on the torso and spares the palms and soles. Children often have a flushed appearance with circumoral pallor. The rash is often more obvious in the flexures. It is often described as having a rough ‘sandpaper’ texture. Desquamination occurs later in the course of the illness, particularly around the fingers and toes
Causative organism of scarlet fever
Group A haemolytic streptococci (usually Streptococcus pyogenes)
Diagnosis and management of scarlet fever?
a throat swab is normally taken but antibiotic treatment should be commenced immediately, rather than waiting for the results
oral penicillin V for 10 days
Complications of scarlet fever?
- Otitis media: the most common complication
- Rheumatic fever: typically occurs 20 days after infection
- Acute glomerulonephritis: typically occurs 10 days after infection
- Invasive complications (e.g. bacteraemia, meningitis, necrotizing fasciitis) are rare but may present acutely with life-threatening illness
Management of scarlet fever?
- Oral penicillin V for 10 days
- Patients who have a penicillin allergy should be given azithromycin
- Children can return to school 24 hours after commencing antibiotics
A 4-year-old girl presents to her GP as her mother is concerned about several symptoms. She has been increasingly fatigued and breathless for the last two weeks, and is complaining of severe pain in both knees. On examination, pallor is seen. A purpuric rash is observed on the legs which has been present for a week. The patient is tachycardic and febrile. Full blood count reveals anaemia, neutropaenia and low platelets.
What is the most likely diagnosis?
Acute lymphoblastic leukaemia (ALL) is the most likely diagnosis in this scenario due to the combination of clinical presentation and blood results.
Henoch-Schonlein purpura can cause purpuric rash, joint pain and fatigue, but does not cause low platelets or neutropaenia.
Emergency treatment for the management of croup exacerbation?
High flow oxygen + nebulised adrenaline
Most common presenting complains of cystic fibrosis patients?
- Recurrent chest infections - 40%
- Malabsorption - 20%
- neonatal period- meconium ileum, less prolonged jaundice
Specific physical features associated with cystic fibrosis
- short stature (due to malabsorption)
- Diabetes mellitus
- Delayed puberty
- Rectal prolapse (due to bulky stools)
- Nasal polyps
- Male infertility and female subinfertility
You are called to assist in the resuscitation of a neonate who has just been born at 38 +6 weeks but is showing signs of respiratory distress. On auscultation of the precordium you note the heart sounds are absent on the left hand side but can hear tinkling sounds. The infant is also cyanosed
What is the likely diagnosis and immediate management?
Congenital Diagphramatic hernia - characterised by the herniation of abdominal viscera into the chest cavity due to incomplete formation of the diaphragm.
What is the cause of Roseala Infantum
HSV-6
What type of inheritance does alport syndrome have? What is its pathophysiology?
Mostly- X linked dominant (more severe in males)
can be autosomal dominant or recessive
Defect of Type IV collagen
What are the features of Alport’s syndrome?
can’t pee, can’t see, can’t hear a bee!
- Microscopic haematuria –> progressive renal failure
- Lenticonus: protrusion of the lens surface into the anterior chamber ; Retinitis pigmentosa
- Sensorineural deafness
What is the diganostic testing for Alport’s syndrome and what are the finding?
• Molecular genetic testing
• Renal biopsy:
characteristic finding is of the longitudinal splitting of the lamina densa of the glomerular basement membrane, resulting in a ‘basket-weave’ appearance
