Child Health Flashcards

1
Q

What is the Aetiology of Meningococcal infection?

A

Caused by Neisseria Meningitidis (gram-negative intracellular diplococcus)

Transmission by respiratory droplet spread

Once bacteria enters circulation, initiates inflammatory process -> capillary leakage and intravascular thrombosis -> consumes clotting factor so basically intravascular coagulation

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2
Q

How does Infection with Neisseria Meningitidis present?

A
  • Meningococcaemia
  • Meningitis ( non-specific, lethargy, headache, fever, rigors, vomiting
  • Rapidly developing purpuric skin rash
  • Hypovolaemic shock - cold peripheries, poor Cap refill, tachycardia, poor urine output
  • If presentation above associated with adrenal haemorrhage and septic shock = waterhouse-friderichsen syndrome
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3
Q

How is Diagnosis of Meningococcal Infection made?

A

Confirmed with blood or CSF culture
PCR testing for Neisseria Meningitidis is highly sensitive

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4
Q

What is the management of Meningococcal infection?

A

Early antibiotic treatment = broad spec IV antibiotics until confirmation of pathogen and then may be narrowed to penicillin-based drug
PICU admission if speticaemic
if Neisseria meningitidis, must notify close contacts

All household contacts should recieve ciprofloxacin or rifampicin as PEP
NM strains part of routine immunisations

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5
Q

How does Pyloric stenosis present?

A

Vomiting after feeds ( can be projectile)
May increase with intensity as obstruction becomes more sever
On examination during feeding, hypertrophic pyloric sphincter might be palpable as a smooth olive sized mass
Typically occuring in babies aged 6-8 weeks

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6
Q

What ion imbalance does pyloric stenosis cause?

A

Hypochloremic (low chloride) Hypokalemic (low Potassium) metabolic alkalosis

Dehydration

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7
Q

How is Pyloric Stenosis Diagnosed?

A

Through abdominal ultrasound to visualise hypertrophic sphincter

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8
Q

What is the management of Pyloric Stenosis?

A

Definitive management is surgical - laproscopic pyloromyotomy to cut pyloric sphincter

Before surgery should be kept nil-by-mouth and on IV fluids

If sever dehydration detected, fluid resus is needed

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9
Q

What are the Causes of Jaundice in babies?

A

Under 24 hours:
- Haemolytic disorders (Rhesus, ABO G6PD deficiency, spherocytosis)
- Congenital infection (TORCH)
- Sepsis

24 hours - 14 days
- Physiologic jaundice
- Breast milk jaundice
- Dehydration
- Infection, including sepsis
- Haemolysis
- Bruising
- Polycythaemia
- Crigler-Najjar Syndrome

Over 14 days ( 21 if preterm)
- Physiologic jaundice
- Breast milk jaundice
- Infection (if UTI perform a full septic screen)
- Hypothyroidism
- Bililary obstruction (incl. biliary atresia)
- Neonatal hepatitis

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10
Q

What is Slipped Upper Femoral Epiphsysis?

A

It occurs when weakness in the proximal femoral growth plate allows displacement of the capital femoral epiphysis

most common hip disorder in the adolescent age group, particularly in those who are obese

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11
Q

What are the risk factors for SUFE

A

Male
Adolescent
Obese
Hypothyroidism, hypogonadism
Afro-carribean or HIspanic

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12
Q

What is the presentation of SUFE?

A

Hip pain and limp

Pain may be referred to the knee

Reduced range of movement on hip flexion

Positive Trendelenburg gait (pelvis drops when lifting leg opposite to weak glute/hip)

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13
Q

How is diagnosis of SUFE made?

A

anterolateral and frog-leg X-rays, which may show characteristic features like a short displaced epiphysis and widened growth plate.

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14
Q

What is the management of SUFE?

A

Surgical management is typically via fixation with a screw

Prompt treatment is essential to avoid prolonged disruption to blood flow and subsequent progression to avascular necrosis of the femoral head.

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15
Q

What are the 3 major trisomy disorders with viable fetuses?

A

Patau’s = Puberty (puberty at age 13), Edward’s = Education (leave school at 18), Down’s = Degree (age of graduation at 21).

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16
Q

What are the features of Patau’s Syndrome?

A

Holoprosencephaly (failure of the 2 cerebral hemispheres to divide, which might present with only one eye and a nose with a single nostril)
Cleft lip and palate
Microcephaly
Polydactyly
Congenital heart disease

Not likely to survive for more than a few weeks

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17
Q

What are the features of Edward’s Syndrome?

A

Low-set ears
Micrognathia (undersized jaw )
Microcephaly
Overlapping 4th and 5th fingers
Rocked bottomed feet
Congenital heart disease

Think rat people

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18
Q

What are the features of Kawasaki’s Disease?

A

Fever > 5 days
Conjunctivitis (red eyes)
Rash
Erythema of hands and feet (red hands and feet)
Adenopathy (cervical, commonly unilateral)
Mucosal involvement (strawberry tongue, oral fissures)

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19
Q

What is the treatment for Kawasaki’s?

A

Treatment of Kawasaki disease is with aspirin and intravenous immunoglobulin (IVIG).

Aspirin is usually avoided in children due to the risk of Reye syndrome (liver and brain damage).

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20
Q

What is Duodenal atresia?

A

Duodenal atresia is a congenital malformation in which the duodenum does has a blind end, and so is not patent (basically opening in duodenum is too narrow or closed so food cannot pass)

25% of cases associated with down’s syndrome

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21
Q

How does Duodenal Atresia present?

A

Antenatally, associated with polyhydramnios (too much amniotic fluid around the baby) as the baby cannot ingest amniotic fluid properly

Distended abdomen

Vomiting may be bilious or non-bilious depending on the site of the atresia

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22
Q

How is the diagnosis of Duodenal atresia made?

A

X-Ray has characteristic double bubble
- one gas bubble visible in the stomach, and one gas bubble visible in the most proximal (patent) part of the duodenum prior to the atresia ( instead of moving onto the intestine)

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23
Q

What is the management of Duodenal Atresia?

A

Surgical repair. Duodenoduodenostomy involves reconnecting the closed proximal and distal segments of the duodenum in order to relieve the obstruction.

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24
Q

What are the signs of a sever asthma episode?

A

Respiratory distress (use of accessory muscles of respiration, breathlessness resulting in inability to complete sentences, tachypnoea with a respiratory rate ≥ 25/min)
Heart rate ≥ 110/min
Peak expiratory flow rate 33-50% of predicted

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25
Q

What are the signs of a life threatening asthma episode?

A

Peak exploratory flow rate is <33% predicted
Oxygen saturations <92%
Silent chest on auscultation
Weak or no respiratory effort
Hypotension
Exhaustion
Confusion/altered conscious level

Near fatal is when the PCO2 is also normal

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26
Q

What are the history signs of an acute asthma attack?

A

Widespread wheeze with exacerbation minutes to hours
confirmed by reduced peak expiratory flow rate and FEV 1 which improves with treatment

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27
Q

What is the management of an asthma attack?

A
  • O2 mainted between 94-98% with high flow oxygen
  • Inhaled salbutamol
  • Nebulised salbutamol
  • Add nebulised ipratropium bromide
  • If O2 saturations remain <92% add magnesium sulphate
  • Add intravenous salbutamol if no response to inhaled therapy
  • If severe or life-threatening acute asthma not responsive to inhaled therapy, add aminophylline
  • All patients should receive steroids. They should only be given IV if the patient is unable take the dose orally
  • You should contact a senior if the patient is not responding to salbutamol or ipratropium.
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28
Q

What are the features of Coxsackie A virus (Hand-foot-mouth disease)

A

vesicular rash on the palms, soles and buccal mucosa along with a fever

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29
Q

What is the main feature of parvovirus B19?

A

Red rash across the cheeks (lace-like rash across the rest of the body)
Prodrome of fever, coryza (runny/stuffy nose), diarrhoea

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30
Q

What are the complications of Parvovirus B19?

A
  • Red cell aplasia (decline in red blood cells)
  • Infection in the first half of pregnancy can also cause severe foetal anaemia that can precipitate hydrops foetalis and subsequent miscarriage
  • Cardiomyopathy
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31
Q

What is Necrotising Enterocolitis?

A

A condition in which the bowel of premature infants becomes ischaemic and infected

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32
Q

What are the risk factors for Necrotising Enterocolitis?

A
  • Prematurity
  • Low birth weight
  • Non-breast-milk feeds
  • Sepsis
  • Acute hypoxia
  • Poor intestinal perfusion
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33
Q

What is the presentation of Necrotising Enterocolitis?

A
  • Presents in the first three weeks of life
  • Vomiting (may be bile streaked - green stained)
  • Bloody stools
  • Abdominal distension
  • Absent bowel sounds
  • Signs of systemic compromise including acidosis on a blood gas
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34
Q

How is Necrotising Enterocolitis diagnosed?

A

Abdominal X-ray with following signs:
- Dilated Bowel Loops
- Pneumatosis intestinalis (gas within the bowel wall)
- Portal venous gas
- Pneumoperitoneum (air in abdominal cavity)

Staged using Bell’s classificiation - mix of clinical and radiological findings

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35
Q

What is the management of Necrotising enterocolitis?

A
  • Nil-by mouth, nasogastric tube and admitted to the neonatal unit
  • Broad-spectrum antibiotics
  • Total parenteral nutrition to rest the bowel
  • Supportive treatment with IV fluids and ventilation are also crucial
  • Surgery to resect necrotic sections of bowel may be necessary, and is essential in cases of bowel perforation.

Mothers of premature babies are strongly encouraged to breastfeed as this reduces NEC risk

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36
Q

What is the management of Hydrocele?

A

Most hydroceles will spontaneously resolve by 12 months. Therefore, management includes observation initially and then surgical correction if they have not resolved by 1 year. This is because there is a significantly increased risk of an indirect inguinal hernia.

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37
Q

What is Turner’s Syndrome?

A

A condition that affects only females and results when one of the X chromosomes is missing or partially missing

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38
Q

What is the presentation of Turner’s Syndrome?

A
  • Short stature
  • Lymphoedema of hands and feet in neonate, may persist
  • Spoon-shaped nails
  • Webbed neck
  • Widely space nipples
  • Wide carrying angle
  • Congenital heart defects - bicuspid aortic valve (most common), coarctation of the aorta (around 5% of all cases associated with Turner’s)
  • Delayed puberty
  • Ovarian dysgenesis causing infertility
  • Hypothyroidism
  • Recurrent otitis media
  • Normal intellect

Increased risk of aortic stenosis (bicuspid valve defect) and aortic dissection (from coarctation of the aorta)

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39
Q

What is the management of Turner’s Syndrome?

A

Growth hormone therapy

Oestrogen replacement to allow development of secondary sexual characteristics

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40
Q

What is Rubella?

A

A condition caused by the rubella togavirus, which is transmitted via aerosols. Children are routinely vaccinated for Rubella as part of the MMR vaccine starting at 12 months of age.

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41
Q

What is the presentation of Rubella?

A

Nonspecific symptoms and signs such as fever, coryza, arthralgia, a rash, which classically starts on the face and moves down to the trunk, sparing the arms and legs), and lymphadenopathy (classically post-auricular - behind the ear)

Measles does not spare limbs

Confirmed with serological testing

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42
Q

What is the management of Rubella?

A

Supportive

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43
Q

What are the consequnces of Congenital Rubella infection?

A

Cataracts, deafness, patent ductus arteriosus, brain damage

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44
Q

What is nocturnal enuresis?

A

Wetting the bed at night is common in young children as they learn to gain voluntary control of the bladder sphincters. It is considered normal until children are 5 years old.

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45
Q

What is the difference between primary and secondary nocturnal enuresis?

A

Primary nocturnal enuresis is seen in children who have never achieved urinary continence overnight.

Secondary nocturnal enuresis is seen in children who have previously achieved urinary continence overnight.

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46
Q

What are the causes of Nocturnal Enuresis?

A

Diabetes mellitus
Urinary tract infections
Constipation - due to compression of the bladder

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47
Q

What is the management of Nocturnal Enuresis?

A

Star chart - initial conservative approach to reward good habits

First line - nocturesis alarm that detects water in the underwear and activates alarm

Over 7 years old can trial DDVAP (synthetic ADP) if alarm has failed

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48
Q

What is Biliary Atresia?

A

rare condition where the bile ducts of an infant are progressively fibrosed and destroyed, leading to conjugated hyperbilirubinaemia, liver failure and death if not treated

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49
Q

What is the presentation of Biliary Atresia?

A

Prolonged jaundice (i.e., jaundice that persists beyond 14 days of life)

Signs of biliary obstruction (e.g, dark urine and chalky white stool)

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50
Q

How is the diagnosis of Biliary Atresia made?

A

Bloods will show a raised conjugated bilirubin and deranged liver function tests

A hepatic scintigraphy (technetium-99) radioisotope scan will highlight the liver (takes up the isotope) but poor excretion into the bowel (as the bile ducts connecting the liver and the gut have been destroyed)

Abdominal ultrasound reveals echogenic fibrosis

Definitive diagnosis of biliary atresia is confirmed with cholangiography, which will fail to show normal architecture of the biliary tree

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51
Q

What is the management of Biliary Atresia?

A

Surgery is required: hepatoportoenterostomy (Kasai procedure), which creates a new pathway from the liver to the gut to bypass fibrosed ducts

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52
Q

What is the managment of acute epiglottitis?

A

Caused by Haemophilia Influenza B

This is an emergency - Senior ENT, anaesthetics and paediatric support is required as soon as possible alongside notifying PICU

  • Do not examine or upset the child in the absence of senior support
  • Securing the airway is the first priority.
  • Endotracheal intubation may be necessary.
  • Once the airway is secure, take cultures and examine the throat
  • Treat with IV antibiotics: cefuroxime
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53
Q

What is cycstic fibrosis?

A

Cystic fibrosis is a progressive, autosomal recessive disorder that causes persistent lung infections and limits the ability to breathe over time

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54
Q

What is the cause of Cystic fibrosis?

A

Mutations affect the structure, processing or cellular transport of the CFTR protein (cystic fibrosis transmembrane conductance regulator)

The most common mutation, affecting Delta-F508, results in abnormal glycosylation and subsequent degradation of the CFTR protein before it reaches the cell membrane.

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55
Q

What are the complications of CF?

A

Thick mucus in the lungs causes cough, recurrent infections, and bronchiectasis (abnormal widening of the bronchi)

Sinusitis and nasal polyps are also very common. Patients usually are colonised with Pseudomonas in the lung by about age 20.

Reduced pancreatic lipase enzyme secretion inhibits fat absorption, causing steatorrhoea (fatty stools)

Poor fat absorption consequently contributes to deficiency of fat-soluble vitamins (A, D, E and K)

Poor weight gain
Diabetes mellitus

Seminiferous tubes also get blocked; most men with cystic fibrosis are unable to conceive naturally.

Fertility is also slightly lower than average in women due to thicker cervical mucus

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56
Q

How does Cystic fibrosis present?

A
  • In neonates

Acutely with meconium ileus (blockage of small intestine) - diagnosed and treated with a gastrograffin enema

Delay in pasing meconium
Bilious green vomiting

  • In infants

Salty sweat
Faltering growth
Malabsoprtion syndromes

  • In Older children

Faltering growth
Recurrent chest infections
Malabsorption syndromes
Delayed onset puberty

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57
Q

How is a diagnosis of cystic fibrosis made?

A

Definitive diagnosis is via a sweat test

screened for on the neonatal blood spot test within the first few days of life; they have a raised blood immunoreactive trypsinogen

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58
Q

What is the management of Cystic Fibrosis?

A

Daily chest physiotherapy techniques are necessary to help clear mucus and prevent pneumonias.

prophylactic antibiotics, bronchodilators, and medicines to thin secretions (e.g. dornase alfa)

Pancreatic enzyme replacement (creon) and fat-soluble vitamin supplementation (ADEK) are also useful.

Patients should also have influenza and pneumococcal vaccines
A last-resort for patients with end-stage pulmonary disease in cystic fibrosis may be a bilateral lung transplant.

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59
Q

What are the features of Foetal Alcohol Syndrome?

A

functional or structural nervous system abnormalities e.g. decreased cranial size, structural brain abnormalities, problems with attention, cognitive difficulties

growth impairment e.g. low birth weight, decelerating weight over time

specific facial abnormalities (e.g. short palpebral fissures, smooth philtrum and thin upper lip)

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60
Q

How does Scarlet fever present and what casues it?

A

coarse red rash (sandpaper texture)
Sore Throat
Headache
Fever
Bright red tongue
Caused by a streptococcus

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61
Q

What is the management of scarlet fever?

A

It is treated with antibiotics (usually 10 days of phenoxymethylpenicillin)

Children remain infectious until 24 hours after the first dose of antibiotics

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62
Q

What are the features of Roseola?

A

Roseola (Human Herpes Virus 6) causes a lace-like red rash (rose-pink macular with surrounding pale halos) across the whole body with a high fever.
It is self limiting and management is supportive

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63
Q

What is chicken pox?

A

Chickenpox presents with a maculopapular vesicular rash that crust over and form blisters, which can be itchy

caused by varicella zoster virus (Human Herpes Virus 3)

Children are infectious from 1-2 days before the rash until every single lesion has crusted over

Treatment is supportive unless the patient is in one of the categories below in which case antiviral treatment (and potentially hospital admission following discussion with a specialist) is indicated.
A neonate
Immunocompromised
An adolescent presenting within the first 24 hours of rash onset
Pregnant
Complications include pneumonitis and encephalitis.

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64
Q

What are the features of measles?

A

Measles presents with a characteristic erythematous, blanching maculopapular rash all over the body.
It is preceded by a fever, cough, runny nose or conjunctivitis.
Koplik spots (white spots inside the buccal cavity) may also be seen alongside the preceding symptoms.

Children are infectious from 4 days before the rash to around 4 days after. It is highly infectious.

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65
Q

What is neonatal respiratory distress syndrome?

A

Neonatal respiratory distress syndrome (NRDS) is caused by a lack of surfactant.

Surfactant is produced by type 2 pneumocytes

May show ground glass appearance on chest x-ray

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66
Q

What is the management of NRDS?

A

Treatment of neonatal respiratory distress syndrome is with intratracheal instillation of artificial surfactant.

Additionally, if preterm delivery is suspected, giving the mother glucocorticoids (dexamethasone) before delivery can increase surfactant production in the baby.

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67
Q

How is a diagnosis of hydrocele made?

A

Hydroceles are confirmed with an ultrasound scan, which demonstrate simple fluid accumulated around the testicle.

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68
Q

How is the diagnosis of asthma made in children?

A

Serial peak flow readings, both when symptomatic and asymptomatic, as the airflow obstruction is reversible
Those suspected of having a high probability of asthma can be started on a trial of a short acting beta agonist (SABA) inhaler
Where possible, spirometry should be performed in children
Where cases are unclear, FeNO testing may be helpful
Detailed History

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69
Q

What is the stepwise management of chronic asthma?

A

All patients should receive a personalised written asthma plan. This should be regularly checked and updated.

Use of a spacer is the preferred method method of delivery for inhaled treatments from a metred dose inhaler

Step 1: Inhaled SABA PRN and consider monitored initiation of very low to low dose inhaled corticosteroid (ICS)

Step 2: Add very low dose ICS (or leukotriene receptor antagonist (LTRA) if <5 years)

Step 3: Very low dose ICS and:
Age < 5 years old: add LTRA
Age > 5 years old: add LTRA or LABA

Additional add-on therapies:
No response to LABA: Consider stopping LABA and increase ICS to low-dose
If some benefit from LABA but still inadequate: increase ICS to low-dose
If benefit from LABA and low-dose ICS but still inadequate: Consider trial of LTRA

High dose therapies:
Consider increasing ICS to medium dose ICS
Addition of fourth drug e.g. theophylline
Refer to patient for specialist care
If the above is inadequate, use daily steroid tablet and maintain medium-dose ICS. Consider other treatments to minimise use of steroid tablets.

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70
Q

What is Minimal Change Disease?

A

Minimal change disease is the most common cause of nephrotic syndrome in children (~70%) and is characterised by minimal histological changes to nephrological structures on light microscopy. It can be associated with a viral upper respiratory tract infection in the preceding weeks.

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71
Q

How does Minimal Change disease present?

A

Patients suffering from minimal change disease typically present with oedema, including facial swelling
Patients will also produce frothy urine
If a child presents with nephrotic syndrome, they are presumed to have minimal change disease and treated for it empirically

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72
Q

What is the initial investigation for minimal change disease?

A

Urine Dipstick - If the urinalysis is strongly positive for protein 3+ or 4+ in the absence of haematuria then nephrotic syndrome is very likely.

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73
Q

What is the managment of Minimal Change Disease?

A
  • Corticosteroid therapy: prednisolone
  • Second line therapy includes other oral immunosuppressive agents such as ciclosporin
  • Fluid restriction and reduced salt intake
  • Human albumin and furosemide
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74
Q

What are the complications of minimal change disease?

A

Spontaneous peritonitis
Thrombosis
Renal damage
Increased risk of infections

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75
Q

Where do you measure pulse on paeds?

A

Carotid pulse in children aged >1 years old
Brachial or femoral pulses in infants

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76
Q

When should resuscitation be stopped?

A

Child shows signs of life
Further help arrives
Rescuer becomes exhausted

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77
Q

What is Acute Lymphocytic Leukaemia?

A

ALL is a malignant clonal disease that develops when a lymphoid progenitor cell becomes genetically altered through somatic changes and undergoes uncontrolled proliferation. This eventually leads to ALL, characterised by early lymphoid precursors replacing the normal haematopoietic cells of the bone marrow and further infiltrating various body organs.

Associated with Down’s syndrome

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78
Q

How does ALL present?

A

Any children presenting in GP with bruising, enlarged lymph nodes and systemic illness should be referred for specialist assessment.

Lymphadenopathy is the most common sign in ALL.

Other symptoms which may be present include: hepatosplenomegaly, pallor or petechiae, fever, fatigue, dizziness, weakness, and epistaxis

THREE CORE SIGNS: Neutropaenia (recurrent infections), Anaemia (pallor, fatigue), and thrombocytopaenia (purpuric rash)

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79
Q

How is diagnosis of ALL made?

A

diagnosed definitively through bone marrow biopsy

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80
Q

What are the normal gross motor milestones?

A

Six weeks: Good head control - raises head to 45 degrees when on tummy

Six months: Sit without support - rounded back; rolls tummy (prone) to back (supine) - vice versa slightly later.

9 months: Stands holding on

12 months: Walks alone (12-18m). 18 months is threshold for concern.

18 months: Runs

2 years: Runs on tiptoes; walks up stairs - 2 feet per step

2.5 years: Kicks ball

3 years: Hops on one foot for 3 steps; walks up stairs 1 foot per step but still 2 feet per step on the way down.

4 years: Walks up and down stairs in an adult fashion

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81
Q

What is tetralogy of fallot?

A

Tetralogy of Fallot is a relatively rare form of congenital cardiac disease

Tetrad compromised of:
- Ventricular septal defect (VSD)
- Overriding aorta - i.e., an aorta that overrides the right and left ventricles as a result of the VSD
- Right ventricular outflow tract obstruction (RVOTO), this is the main determinant of the severity of cyanosis
- Right ventricular hypertrophy

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82
Q

How does tetralogy of fallot present?

A

Tetralogy of Fallot is most commonly diagnosed antenatally, or on detection of a murmur in the first few months of life.

May also present with cyanosis

Babies can present with tet spells, which are acute episodes of cyanosis. During a tet spell, there is reversal of the shunt across the VSD, resulting in a right-to-left shunt and worsening cyanosis.

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83
Q

What is the management of Tet Spells?

A

This is an emergency and can be fatal

Acutely: lie babies on their back and bend their knees. In hospital, oxygen should also be provided.

Prophylaxis: propranolol may be used by some centres

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84
Q

What is the management of Tetralogy of Fallot?

A

Definitive management is via surgery where the RVOTO is corrected and the VSD is closed

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85
Q

What is Hypoxic Ischaemic encephalopathy?

A

brain damage resulting from ante- or perinatal hypoxia

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86
Q

What is the aetiology of Hypoxic Ischaemic encephalopathy?

A

Any poor oxygentation can cause HIE
- Pre-partum (e.g., placental abruption)
- During delivery (e.g., cord compression)
- Post-partum (e.g., prolonged respiratory arrest).

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87
Q

How is the diagnosis of HIE made?

A

Investigation of HIE is with EEG monitoring and multiple MRI brain scans

Presentation ranges depending on degree of neurological damage ranging from mild (irritability) to severe (hypotonia, poor responses, prolonged seizures)

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88
Q

What is the management of HIE?

A

Management includes respiratory support, anticonvulsant therapy, careful fluid balance and electrolyte monitoring, and potentially the use of inotropes.

Cooling the baby (to around 34 degrees) to induce mild hypothermia can also prevent further damage by secondary reperfusion injury.

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89
Q

What is the presentation of Testicular torsion?

A

Sudden onset, severe pain in one testicle
Often follows minor trauma
High riding in the scrotum
Unilateral loss of cremaster reflex
No relief in pain on elevation of the testicle (negative Prehn’s sign)

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90
Q

What is the management of Testicular Torsion?

A

Management involves expedited surgical exploration with fixation of the testicles with orchidoplexy.

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91
Q

How do you monitor for complications of Kawasaki’s disease?

A

Associated with future development of coronary aneurysms - echocardiogram recommended to assess long term risk of myocardial ischaemia secondary to coronary aneurysm

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92
Q

What is Hirchsprung’s disease?

A

Can cause chronic constipation

As the baby develops in utero, the distal colon is not innervated correctly. The resulting aganglionic colon is shrunken and not able to distend properly. This causes a back pressure of stool trapped in the more proximal colon.

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93
Q

What is the presentation of Hirchsprung’s Disease?

A

Presents at brith with:
- a delay in passing meconium (>48 hours)
- a distended abdomen
- forceful evacuation of meconium after digital rectal examination

In later childhood, will have chronic history of constipation, poor response to movicol disimpaction regimes (laxatives) and poor weight gain

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94
Q

What is the diagnosis and management of hirchsprung’s disease?

A

Confirmed with a rectal suction biopsy - will show an absence of ganglion cells in colonic submucosa

Definitive management of Hirschsprung’s disease is through removal of the section of aganglionic colon and the healthy bowel is pulled through.

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95
Q

What is Juvenile Idiopathic Arthritis?

A

Juvenile idiopathic arthritis (JIA) is an umbrella term for a range of arthritides affecting children and young people where the cause is not clear. JIA is a diagnosis of exclusion for children <16 years old who have persistent joint swelling (>6 weeks). Different kinds of JIA include polyarthritis, oligoarthritis and systemic forms.

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96
Q

What is the presentation and diagnosis of JIA?

A

Systemic signs followed by joint pain:
- Fevers
- Malaise
- Salmon Pink rash
- Joing involvement can be in one or multiople joints

Diagnosis of exclusion (e.g exclude infections, malignancy and lupus)

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97
Q

What are the complications of JIA?

A
  • Flexion contractures (requiring physio and splints)
  • Joint destruction (requiring prostheses at young ages)
  • Growth failure (from steroids and chronic disease)
  • Anterior uveitis (causing visual impairment)
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98
Q

What is the management of JIA?

A

Psychological support to help coming to terms with using walking aids so early on in life

medical management:
- NSAIDs (symptom control only)
- Steroids (intra-articular or oral)
- Steroid-sparing agents e.g., methotrexate or biologics such as TNF-a inhibitors

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99
Q

What is the presentation of Measles?

A

Development of a fever above 40 degrees

Coryzal symptoms

Conjunctivitis followed by a rash about 2-5 days after onset of symptoms

Koplik spots are small grey discolourations of the mucosal membranes in the mouth and appear 1-3 days after symptoms begin during the prodrome phase of infection. They are pathognomonic for measles infection.

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100
Q

How is the diagnosis of Measles made?

A

1st: measles specific IgM and IgG serology (ELISA) is most sensitive 3-14 days after onset of the rash

2nd: measles RNA detection by PCR best for swabs taken 1-3 days after rash onset

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101
Q

What are the complications of Measles?

A

Acute otitis media

Bronchopneumonia

Encephalitis

Subacute sclerosing panencephalitis is a possible long-term complication, which can occur up to 10 years after initial measles infection

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102
Q

What sort of vaccine is the MMR vaccine?

A

LIve attenuated vaccine

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103
Q

What is the management of measles?

A

Supportive care which will normally include an antipyrexial

Vitamin A in all children under 2

Ribavarin may reduce the duration of symptoms but its use is not routinely recommended

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104
Q

What sort of murmur does a ventricular spetal defect cause?

A

Pan-systolic murmur most likely VSD

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105
Q

What is Eisenmenger syndrome?

A

Eisenmenger syndrome describes the reversal of a left-to-right shunt to a right-to-left shunt. It is thus an acquired right-to-left shunt.

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106
Q

What is the cause of Eisenmenger syndrome?

A

Increased pulmonary pressures cause changes in the pulmonary vasculature resulting in pulmonary hypertension

This results in the shunt reversing and is accompanied with right ventricular hypertrophy

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107
Q

What is the presentation and prognosis of Eisenmenger syndrome?

A

Typically occurs in late teens
Cyanosis
May develop right heart failure

rreversible and generally progresses to severe cardiac failure, often fatal by around age 40

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108
Q

What is the management of Eisenmenger syndrome?

A

Eisenmenger syndrome is best treated by prevention - i.e. identifying and promptly treating causes of left-to-right shunts

Otherwise, the treatment for Eisenmenger syndrome would be a heart-lung transplant, or palliation if this is not an option

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109
Q

What is transient synovitis?

A

Transient synovitis is a benign cause of limp in children from inflammation of the synovial lining of the hip joint.

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110
Q

What is the cause of transient synovitis?

A

Transient synovitis is generally preceded by a viral infection (particularly upper respiratory tract infections) 1-2 weeks before the onset of pain and limp.

The child may complain of pain in the hip itself or of knee pain (referred from the hip) and may have a low-grade fever.

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111
Q

What is the presentation of Tranisent Synovitis?

A

Distinguishing transient synovitis (‘irritable hip’ as an inflammatory reaction after a viral infection) and early septic arthritis (bacterial infection of the joint) can be a clinical challenge.

Both cause acute onset limp where the child avoids bearing weight and present with fever. Generally, the features of transient synovitis are milder than septic arthritis (mild/absent fever versus high fever, mild vs severe pain).

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112
Q

How is a diagnosis of transient synovitis made?

A

Investigations such as blood tests and imaging may be useful in providing evidence towards a diagnosis.

For example, raised white cell counts and raised inflammatory markers point towards septic arthritis, but may be normal or raised in either condition.

Similarly, ultrasound of the joint may show effusion and X-rays may be normal in either condition.

If the history, examination, bloods and X-ray do not give a clear diagnosis, or if there is a high index of clinical suspicion for septic arthritis, a joint aspirate under ultrasound guidance and blood cultures should be taken.

Microscopy, culture and sensitivity of the joint aspirate will distinguish between the two, as bacteria within the joint space confirms septic arthritis.

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113
Q

What is the management of Transient Synovitis?

A

Transient synovitis is managed with supportive treatment. Transient synovitis generally resolves in around 7 days with minimal risk of long-term damage to the joint.

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114
Q

What is the management of neonatal sepsis?

A

Initial investigations should include:
FBC, CRP and blood culture. A blood culture should be taken before the first dose of antibiotics

Strongly consider a lumbar puncture (LP). An LP is essential if neonatal meningitis is suspected.

Chest X-rays should only be performed if there is a strong suspicion of a chest source

NICE advises against a urine culture in early onset neonatal sepsis

CRP should be repeated by 24-36 hours after the initial dose of antibiotics

Empirical treatment: benzylpenicillin and gentamicin
This is further adjusted based on culture results and the clinical picture

Gentamicin levels require monitoring

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115
Q

What is Henoch Schonlein Purpura?

A

Henoch-Schonlein Purpura (HSP) is the most common small vessel vasculitis in children. It most commonly affects children aged 3-5 years old.

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116
Q

How does Henoch Schonlein Purpura present?

A

Purpura or petechiae on the buttocks and lower limbs

Abdominal pain

Arthralgia

Nephritis (haematuria +/- proteinuria)

May be pyrexial

HSP is commonly preceded by a viral upper respiratory tract infection

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117
Q

What is the management of Henoch Schonlein Purpura?

A

NSAIDs for analgesia and their anti-inflammatory effect

Antihypertensives may be needed to control blood pressure

After an episode of HSP, children should have regular urine dips for 12 months to check for renal impairment.

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118
Q

What is Transposition of great arteries?

A

Transposition of the great arteries (TGA) is a cyanotic congenital cardiac defect where the origins of the aorta and pulmonary artery are swapped

The most common form of congenital heart defect in infants of diabetic mothers

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119
Q

What is the aetiology of Transposition of great arteries?

A

In normal development, the aortopulmonary septum spirals

In TGA, this spiral doesn’t happen, which means that the aorta leaves the right ventricle and supplies the body while the pulmonary artery leaves the left ventricle and supplies the lungs

This in effect creates two parallel circulations and is not compatible with life without shunting via the ductus arteriosus and sometimes septal defects

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120
Q

How is the diagnosis of Transposition of the great arteries amde?

A

Most diagnoses are made antenatally
Neonates may be diagnosed postnatally when they are cyanotic at birth or may become cyanotic upon closure of the ductus arteriosus

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121
Q

What is the management of Transpositiong of great arteries?

A

Transposition of the great arteries requires surgery within the first few months of life to correct the defect

Patients may be started on Prostaglandin E infusions while they await surgery

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122
Q

What common x-ray fracture is found. in non-accidental injury?

A

Spiral fractures are complete fractures of long bones that result from a rotational force being applied along the axis of a bone while the other extremity is planted. Spiral fractures in children are a common sign of physical abuse because they are a result of forceful jerking or twisting of a limb

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123
Q

What is Impetigo?

A

Impetigo is a bacterial skin infection most often caused by Staphylococcus aureus or Streptococcus pyogenes. It can occur as a primary infection or as a complication of an existing condition, such as eczema. Impetigo presents with golden, crusted skin lesions usually around the mouth and nose.

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124
Q

What is the first line treatment of Impetigo?

A

With localised disease, first line treatment would be topical fusidic acid

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125
Q

What is Tonsilitis?

A

Tonsillitis is a form of pharyngitis where there is intense acute inflammation of the tonsils, often with a purulent exudate in bacterial tonsillitis.

Strep. Pneumoniae most common organism in recurrent tonsillitis. inchildren - EBV is another common cause

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126
Q

How do you differenetiate between bacterial and viral tonsilitis?

A

Bacterial more associated with cervical lymphadenopathy

Viral more associated with headache, apathy and abdominal pain

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127
Q

How do you diagnose Tonsilitis due to bacterial infection?

A

CENTOR criteria: 1 point for each of the following
- Tonsillar exudate
- Tender anterior cervical lymphadenopathy
- Fever over 38
- Absence of cough

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128
Q

What is the management of bacterial tonsillitis?

A

A Centor criteria score of 3/4 would warrant prescribing antibiotics or evidence of systemic upset/immunosuppression would warrent a course of antibiotics:

1st line: Penicillin V 500mg PO QDS for 5-10 days

Alternative in penicillin allergy: Clarithromycin/Erythromycin 250-500mg PO BD for 5 days

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129
Q

What are the main factors in constipation within children?

A

Low fibre diet
Dislike of using toilet
Pain on passing stool e.g., secondary to an anal fissure or very hard stool
Not recognising sensation of needing to pass stool

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130
Q

What is the best initial management of chronic constipation?

A

Initial treatment of chronic constipation is with a movicol disimpaction regimen

This is followed by maintenance movicol, alongside a high fibre diet and advice about encouraging good toileting habits

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131
Q

What is the management of ADHD?

A

Conservative:
Behavioural techniques
Extra support at school. However, ADHD does not generally affect intellectual ability.

Medical:
Stimulant medication such as methylphenidate. These medicines have some activity in the frontal lobe thus increasing executive function, attention, and reducing impulsivity.

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132
Q

What is muscular dystrophy?

A

Muscular dystrophy includes a range of conditions where muscles gradually break down and get progressively weaker over time. The most common form of muscular dystrophy is Duchenne muscular dystrophy (DMD). Becker’s muscular dystrophy is the second most common form, and one may view it as a milder version of Duchenne’s muscular dystrophy.

Caused by mutations that reduce expression of dystrophin - in duchenne its not expressed, in beckers. its at low level

Both inherited by X-link recessive mechanisms so vast majority of cases are male

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133
Q

What is the presentation of Duchenne’s muscular dystrophy?

A

Muscle wasting and weakness in early childhood

Usually wheelchair-bound before puberty and die from respiratory failure by their early twenties.

Children may have bulky-appearing muscles, as degenerated muscle is replaced by fat.

Parents may notice that the child ‘slips through their hands’ when they pick them up (due to loose muscles in the shoulder), and that they walk their arms up their legs when getting up from the floor (Gower’s manoeuvre, sign of proximal muscle weakness).

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134
Q

What is the presentation of Becker’s muscular dystrophy?

A

Muscle wasting and weakness presents in late childhood - Usually become wheelchair-bound in their teens commonly survive into their thirties.

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135
Q

How do you diagnose Muscualar dystrophy?

A

Genetic testing detects Duchenne’s muscular dystrophy in most cases. It has replaced muscle biopsy as the gold standard diagnostic test.

Muscle biopsies are sometimes performed, but they are not usually needed now that genetic testing is readily available

A creatinine kinase (CK) can be used as a first-line test to screen for muscular dystrophy

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136
Q

What is retinopathy of prematurity?

A

Retinopathy of prematurity is a cause of visual impairment in premature babies.

The mechanism of retinopathy of prematurity is thought to involve free radicals. Supplemental oxygen therapy creates free radicals which damage the retina and trigger proliferation of blood vessels on the retina. This can lead to retinal fibrosis, retinal detachment and ultimately blindness.

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137
Q

What is the indications and management of retinopathy of prematurity?

A

Indications for referral: Babies born at less than 32 weeks gestation or less than 1.5kg birth weight should be screened for retinopathy of prematurity with fortnightly fundoscopy by an ophthalmologist

Treatment: laser therapy

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138
Q

What is a characteristic sign of retinoblastoma?

A

Children with retinoblastoma present with a white eye reflex (loss of the normal red reflex) which parents might note on flash photography.

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139
Q

What is the ratio of breaths to rescue breaths in paeds?

A

5 rescue breaths initially then 15 chest compressions followed by 2 breaths and repeat 2 breaths 15 comrpessions

depth - 5 cm in adult sized children - babies and young children 2/3 chest depth

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140
Q

What is a contraindication to LP

A

Septicaemia - risk of coning

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141
Q

What is Ebstein’s anomaly?

A

Caused by lithium monotherapy normally

large right atrium and small right ventricle, usually due to low insertion of the tricuspid valve, which also causes tricuspid incompetence

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142
Q

How does Rickets present?

A

Vitamin D is required for bone mineralisation. Inadequate mineralisation causes soft bones, e.g. ‘bowed femurs’. Children with rickets can present with:

Aching bones and joints
Poor growth and development
Delayed dentition
Weakness
Constipation
Prematurity is a risk factor for vitamin D deficiency.

The diagnosis of rickets is made through a low blood level of vitamin D
There may be additional radiological evidence such as bowed femurs and widened epiphyseal plates

Management is oral vitamin D supplementation

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143
Q

What is Meconium aspiration syndrome?

A

The presence of meconium in the amniotic fluid may lead to development of meconium aspiration syndrome (MAS).

MAS is caused by passage of the meconium from the amniotic fluid into the foetal lungs.

This can cause blockage and inflammation of the airways and is associated with significant morbidity and mortality.

Can stain the skin of a baby and aspiration can result in respiratory distress

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144
Q

What are high risk objects that could be inhaled?

A

Batteries
Large objects that may become trapped at the pylorus
Absorbent materials that may cause obstruction
Magnets swallowed with metal objects
Lead-based objects
Objects containing toxins

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145
Q

What is the presentation of an inhaled foreign body?

A

Sudden shortness of breath
Focal site of the chest findings
A monophonic wheeze, especially in the right lower lobe of the lung is highly suggestive of an inhaled foreign body. As such, this should be visualized using a chest x-ray.

146
Q

What are the investigations for inhaled foreign object?

A

The majority of foreign objects that are swallowed can be managed conservatively.

Investigations are unnecessary in an asymptomatic child with a low-risk ingestion.

Endoscopy or open surgery may be required to retrieve a high-risk object.

147
Q

What is the symptom triad of ADHD?

A

Hyperactivity
Impulsivity
Inattention

148
Q

What is a stranagulated hernia?

A

A strangulated hernia is a hernia that is cutting off the blood supply to the intestines and tissues in the abdomen. This is an emergency.

149
Q

What is the presentation of a strangulated hernia?

A

Abdominal pain

Vomiting

Hernias can have an intermittent history of pain as the hernias are still reducible. Strangulated hernias are problematic as the blood supply to the part of the bowel that forms the hernia is blocked. The bowel that forms the hernia becomes ischaemic and necrotic.
This can lead to sepsis and/or perforations.

150
Q

What is the management of a strangulated hernia?

A

Surgery is required to release the herniated bowel and/or remove any necrosed tissue.

To strengthen the site of the abdominal wall that is weak (i.e. where the hernia was), a mesh or a specific suturing technique is used.

151
Q

What is orbital cellulitis?

A

Cellulitis is a bacterial soft tissue infection of the dermis and subcutaneous tissue

152
Q

What are the clinical features of cellulitis?

A

Generally caused by Streptococcus and/or Staphylococcus organisms.

Erythema
Calor (heat)
Swelling
Pain
Poorly demarcated margins
Systemic upset: fever, malaise
Lymphadenopathy
Often evidence of breach of skin barrier e.g. trauma, ulcer etc

CT orbit is the most important investigation in orbital cellulitis - will show depth of infection and any abscesses

153
Q

What is the management of cellulitis?

A

Blood tests including culture

Skin swab for culture

Oral or IV antibiotics depending on severity

Mark the area of erythema to aid in detection of rapidly spreading cellulitis

Elevate if possible

Wound debridement may be necessary

154
Q

What is croup?

A

Croup, also known as laryngotracheobronchitis, is an infection of the upper airway. This causes inflammation which results in the upper airway becoming obstructed.

155
Q

What is the cause of croup?

A

typically affects children aged 6 months to 6 years old - most common in children under 3

Parainfluenza virus is the primary cause accounting for the vast majority of cases

Other viruses commonly infecting the upper respiratory tract can also cause croup e.g., adenovirus, influenza and RSV

Bacteria can also cause croup, and these cases are a lot more severe

156
Q

What is the presentation of croup?

A

Classically presents with a barking, seal-like cough.

Stridor may also be present - this can worsen if the child is upset

Fevers

Signs of increased work of breathing

157
Q

What is the management of croup?

A

Most cases are mild and dealt with in primary care with a single dose of dexamethasone

More severe cases may require hospital admission for observation, oxygen and nebulosed budesonide if the child won’t tolerate PO steroid

Where are there significant concerns about the airway, nebulised adrenaline may also be used

It is vital not to upset children with croup as their crying can worsen their upper airway obstruction

158
Q

What factors can affect foetal growth?

A

Maternal factors:
- Maternal BMI and nutritional status (including poor weight gain during pregnancy)
- Co-morbidities such as diabetes, anaemia, hypertension, infection, sickle cell anaemia, pulmonary or cardiovascular disease, renal disease, coeliac disease
- Cigarette smoking, alcohol and substance abuse
- Structural uterine malformations

Foetal factors:
- Chromosomal defects
- Multiple pregnancy
- Vertically transmitted infection (e.g. CMV, rubella, toxoplasmosis)

Placental factors:
- Utero-placental insufficiency
- Pre-eclampsia

159
Q

What is otitis media?

A

Otitis media is a common infection causing inflammation of the middle ear.

160
Q

What are the features of otitis media?

A

pain
fever
irritability
anorexia
vomiting
often after a viral upper respiratory tract infection

161
Q

What are the Features of Acute Otitis Media?

A

Causes deep seated pain, impaired hearing with systemic illness and fever.

The onset is usually rapid with a feeling of aural fullness followed by discharge when the tympanic membrane perforates with relief of pain.

Tympanic membrane shows injection of blood vessels and then diffuse erythema.

Bacterial infection is common particularly in young children.

162
Q

what are. thefeatures of Benign Chronic Otitis Media?

A

Characterized by a dry tympanic membrane perforation without chronic infection.

163
Q

What are the Features of Chronic Secretory Otitis Media (Glue Ear)?

A

This presents as persistent pain lasting a couple of weeks after the initial episode
The drum looks abnormal and will show reduced mobility of the membrane.

164
Q

What are the Features of Chronic Suppurative Otitis Media?

A

Diagnosed when there is persistent purulent drainage through the perforated tympanic membrane.

165
Q

What is the management of Otitis Media?

A

Admit any children under 3 months with a temperature of 38 or more, or children with suspected acute complications of otitis media such as meningitis, mastoiditis or facial nerve palsy.

Consider admitting any children who are very systemically unwell.

Otherwise, treat pain and fever with paracetamol or ibuprofen.

Most children will not require antibiotics. A delayed antibiotic prescribing strategy can also be appropriate. This involves asking patients/parennts to start taking antibiotics if symptoms don’t improve within four days.
Offer immediate antibiotic prescription to children who are systemically unwell (but don’t require admission) or those at high risk of complications (e.g. immunocompromised patients).

166
Q

What are the intercranial and extracranial complications of otitis media?

A

Extra-cranial Complications of Otitis Media

Facial nerve palsy:
Acute otitis media can lead to a lower motor neuron lesion of the VII cranial nerve.
Patients usually recover well with treatment of the otitis media.

Mastoiditis:
Infection can spread from the middle ear to form an abcess in the mastoid air spaces of the temporal bone.
This leads to postauricular swelling pushing the auricle outwards and forwards.
Mastoid tenderness will be present

Petrositis:
Infection spreading to the apex of the petrous temporal bone.
There is a triad of symptoms which leads to Gradenigo syndrome: otorrhoea, pain deep inside the ear and the eye and ipsilateral VI nerve palsy.

Labrynthtitis:
Inflammation of the middle ear can lead to inflammation of the semicircular canals leading to the symptoms of vertigo, nausea, vomiting and imbalance.

Intra-cranial Complications of Otitis Media

Meningitis:
An important and life threatening complication and can present with sepsis, headache, vomiting, photophobia and phonophobia.

Sigmoid sinus thrombosis:
Patients present with sepsis, swinging pyrexia and meningitis.

Brain abscess:
A patient will present with sepsis and neurological signs due to compression of cranial nerves.

167
Q

What is Coeliac disease?

A

Coeliac disease is a T cell-mediated inflammatory autoimmune disease affecting the small bowel in which sensitivity to prolamin results in villous atrophy and malabsorption.

168
Q

What are the associations of coeliac disease?

A

Type 1 diabetes (associated disease)

Autoimmune thyroid disease such as Graves disease or Hashimotos thyroiditis (associated disease)

positive family history
HLA-DQ2 allele

169
Q

How is the diagnosis of coeliac disease reached?

A

Stool culture is necessary to exclude infection.

The gold standard diagnostic test is with OGD and duodenal/jejunal biopsy. Patients should be referred for this after positive serological testing (or negative serological testing but high clinical suspicion). Ideally this should be carried out before gluten is withdrawn from the diet and repeated after gluten withdrawal (to demonstrate resolution).

Histology reveals sub-total villous atrophy, crypt hyperplasia, and intra-epithelial lymphocytes.

Anti-TTG IgA antibody is measured first line - IgA level should be measured in conjuction

170
Q

What are the complications of Coeliac disease?

A

Anaemia (secondary to iron, B1 or folate deficiency)

Hyposplenism (and therefore a susceptibility to encapsulated organisms)

Osteoporosis (a DEXA scan may be required)

Enteropathy-associated T cell lymphoma (EATL; a rare type of non-Hodgkin lymphoma).
- The likelihood or acquiring this malignancy is directly proportional to the strength of overall adherence to a gluten free diet - i.e. the more a patient breaks adherence, the more likely they are to get EATL.

171
Q

What is the management of Coeliac disease?

A

The only management for Coeliac disease is life-long gluten free diet.
- Patients often require education regarding what foods contain gluten, for example many patients do not realise that beer contains gluten.

Patients require regular monitoring to check adherence to a gluten-free diet and to screen for complications

172
Q

What is the presentation of Coeliac disease?

A

Gastrointestinal symptoms
- Abdominal pain
- Distension
- Nausea and vomiting
- Diarrhoea
- Steatorrhoea

Systemic symptoms
- Fatigue
- Weight loss or failure to thrive in children
- General appearance: check for pallor (secondary to anaemia), short stature and wasted buttocks (secondary to malnutrition), and features of vitamin deficiency secondary to malabsorption (e.g. bruising due to vitamin K deficiency).
- Dermatological manifestations: dermatitis herpetiformis (pruritic papulovesicular lesions over the buttocks and extensor surfaces of the arms, legs, and trunk)
- Abdominal examination: there may be abdominal distension.

173
Q

Which of the following routinely tested for substances is raised in physiological jaundice?

A

Unconjugated bilirubin

174
Q

What is hydrocephalus?

A

Hydrocephalus is the result of an excess of cerebrospinal fluid (CSF) accumulating in the brain’s ventricular system. This puts pressure on the brain parenchyma and can have devastating neurological consequences if not recognised and treated.

175
Q

What are the causes of hydrocephalus?

A

Causes of non-communicating hydrocephalus
- In non-communicating hydrocephalus, something obstructs the flow through the ventricular system.
This obstruction might be from:
- a congenital malformation (e.g., stenosis of the aqueduct or a Chiari malformation)
- a tumour or vascular malformation in the posterior fossa
- an intraventricular haemorrhage (premature infants are particularly at risk)

Causes of communicating hydrocephalus
- In communicating hydrocephalus, a failure to reabsorb CSF occurs from an insult to the arachnoid villi
- Examples causes include meningitis and subarachnoid haemorrhage

176
Q

What is the presentation of hydrocephalus?

A

Hydrocephalus in infants presents with an enlarged head circumference. This might be noticed upon inspection or when plotting their growth.

Other signs include bulging of the anterior fontanelle, distention of veins across the scalp

A late sign is ‘sunsetting’ of the eyes, where upward gaze is limited

Without treatment, raised intracranial pressure will lead to significant long-term neurological deficits in children with hydrocephalus

Diagnosis is made with cranial ultrqasound (through the anterior fontanelle, whilst it is still open in the first few months of life) or by MRI/CT of the brain

177
Q

What is the management of hydrocephalus?

A

Hydrocephalus is managed with insertion of a ventriculoperitoneal shunt, to move excess CSF into the abdominal cavity where it is reabsorbed

Carers should be counselled to look out for signs of a blocked or infected shunt

178
Q

What are the features of congenital hypothyroidism?

A

Peripheral Features
- Dry, thick skin
- Brittle hair
- Scanty secondary sexual hair

Head and Neck Features
- Macroglossia
- Puffy face
- Loss of lateral third of the eyebrow
- Goitre (depending on cause)

Cardiac Features
- Bradycardia
- Cardiomegaly

Neurological Features
- Carpal tunnel syndrome
- Slow relaxing reflexes
- Cerebellar ataxia
- Peripheral neuropathy

Auto-immune Causes
- Hashimoto’s thyroiditis
- Anti-TPO (thyroperoxidase): 90-95% of patients
- Anti-thyroglobulin: 35-60% of patients
- Anti-TSH receptor (blocking): 10% of patients
- Atrophic thyroiditis
- Autoimmune polyendocrine syndromes

Iatrogenic Causes
- Surgical
- Radioablation
- Radiation

Congenital Causes
- Thyroid aplasia
- Pendred syndrome (defect in thyroxine synthesis)​

Iodine deficiency/Excess Related Causes
- Infiltrative
- Sarcoid
- Haemochromatosis

Primary Autoimmune Hypothyroidism
- Types of autoimmune thyroiditis include:
- Hashimoto’s thyroiditis
- Atrophic thyroiditis
- Autoimmune polyendocrine syndromes

179
Q

What is the management of hypothyroidism?

A

Levothyroxine is first line to replace thyroxine.

Risks include osteoporosis and cardiac arrythmias.

Following stabilisation of dose, TSH should be checked annually.

180
Q

What is Developmental Dysplasia of the hip?

A

Developmental dysplasia of the hip is an abnormality of the hip joint where the ball of the femur and acetabulum of the pelvis do not articulate properly during development, meaning that the joint can dislocate easily and will continue to develop abnormally

181
Q

What are the risk factors of Developmental Dysplasia of the hip?

A

Risk factors for developmental dysplasia are the 5 Fs:

  • Female
  • Firstborn
  • Family history
  • Fanny first (breech)
  • Fluid (oligohydramnios).
182
Q

What is the screening for Developmental Dysplasia of the hip?

A

The manoeuvres to screen for DDH are Barlow (posterior dislocation) and Ortalani (relocation on abduction of the hip) manoeuvres.

Mnemonic to remember Barlow and Ortolani:

Barlow’s is Bad (dislocate) -
ORTolani- ORThopaedic doctors relocate joints

Diagnosis is confirmed with a hip ultrasound

183
Q

What is the management of DDH?

A

In mild cases, DDH will be self-limiting within the first few months of life. More severe cases may necessitate a Pavlik harness or even surgery

184
Q

What is Oppositional defiant disorder?

A

Oppositional defiant disorder is a paediatric psychiatric diagnosis in which children show persistent defiant and hostile behaviour towards figures of authority, like a parent or teacher.

The behaviour is not significant enough to be a serious disability in social functioning, unlike the more serious diagnosis of conduct disorder

185
Q

What is the management of Oppositional defiant disorder?

A

Management of oppositional defiant disorder can be a challenge
Parenting groups and techniques can be useful
Family and behavioural therapy

186
Q

What is conduct disorder?

A

Conduct disorder is a diagnosis given to patients under the age of 18 years old who show behaviour and attitudes that continuously disrespect and violate the rights of other people. It is more common in males

Presents as physical agression, destructive behaviour, stealing

187
Q

What is the prognosis of conduct disorder?

A

The prognosis of conduct disorder is generally poor:

Around 50% of children with conduct disorder develop antisocial personality disorder
Around 50% develop substance misuse issues
Around 40% become recurring young offenders

188
Q

What is Glandular fever?

A

Glandular fever, also known as infectious mononucleosis, is viral infection caused by Epstein Barr virus (EBV). It is transmitted by saliva, which is why it is also called the ‘kissing disease’.

189
Q

What is the presentation of Glanndular fever?

A
  • Fever
  • Sore throat
  • Fatigue
  • Hepatomegaly and/or splenomegaly may sometimes be found on palpation

EBV causes a mild infection in small children, but a more severe infection in teenagers; the fatigue can be quite debilitating and persist for weeks.

The diagnosis of EBV infection is usually made clinically
Although a heterophile antibody ‘Paul Bunnell’ test will be positive if performed

190
Q

What is the management of Glandular fever?

A

Supportive

Advise against contact sports and heavy lifting for 1 month to minimise risk of splenic rupture

191
Q

What is maintenance fluid requirements in children?

A
  • 1st 10kg of bodyweight at 100ml/kg/day
  • 2nd 10kg of bodyweight at 50ml/kg/day
  • Remaining bodyweight at 20ml/kg/day
    The fluid type routinely used is 0.9% sodium chloride + 5% dextrose. Potassim is added as required depending on their U&Es.

Paediatric electrolyte requirements
- Sodium: 2-4mmol/kg/day
- Potassium: 1-2mmol/kg/day

192
Q

What is acute fluid resuscitation in children?

A

Boluses in paediatrics are given at 10-20ml/kg at a time

The fluid used is 0.9% sodium chloride

10ml/kg boluses should be used when treating children who are in heart failure or are trauma victims
Senior support should be sought if a child has not responded to 2 boluses

193
Q

What is fluids deficit replacement in children?

A

Firstly you should calculate the percentage dehydration. This is done either by one of the following ways:

If their normal weight is unknown: Estimating their level of dehydration based on clinical signs from a fluid (hydration status) assessment

If their normal weight is known:
subtracting their current (dehydrated) weight from their normal weight
dividing the result by their normal weight, and then
multiply it by 100
You can then work out the fluid deficit (in ml) by multiplying the % dehydration by their weight (kg) then multiplying that by 10

Deficit replacement fluids should then be given spread out over a 24-48 hour period in children in addition to normal maintenance fluids

194
Q

How does Prader-Willi Syndrome present?

A

progressive obesity, hyperphagia, short stature and learning difficulties on a background of hypotonia

Parents of children with Prader-Willi syndrome often report that their child will eat anything and everything and will be consistently hungry

195
Q

What is GORD?

A

Gastro-oesophageal reflux (GOR) is the passage of gastric contents into the oesophagus. It is considered physiological in infants when symptoms are absent or not troublesome

Gastro-oesophageal reflux affects up to 40% of children during the first 6 months of life.
It is common as the gastro-oesophageal sphincter is still developing.

196
Q

What is the presentation of GORD?

A

As acid refluxes back up the oesophagus, babies commonly present with:

Milky vomits after feeds.
Crying/irritability
Arching of the back
Drawing up of the knees into the chest
In some cases, these arching movements can be so strong that they can be mistaken for seizures.

197
Q

What is the management of GORD?

A

Most management is conservative:

Keep baby upright post-feeds and burp after feeds
Keep cot on a slight incline
Reassure parents that most cases will resolve as the baby grows and the cardiac sphincter matures

Medical:
Gaviscon (infant formulation)
Omeprazole

Surgical:
Fundoplication

198
Q

What is Wilm’s Tumour?

A

Wilm’s tumour (nephroblastoma) is an embryonic tumour from the developing kidney. It the most common abdominal tumour in children.

It is most common in children under 5 with a peak incidence between 3-4 years of age

199
Q

How does Wilm’s Tumour present?

A

Abdominal mass that doesn’t cross the midline (but may be bilateral in up to 5% of cases)
Abdominal distension
Haematuria
Hypertension
Normally otherwise asymptomatic unless tumour has grown so large that it is causing pain or infiltrating/disrupting other abdominal structures

200
Q

How does the diagnosis of Wilm’s Tumour made?

A

In patients with suspected nephroblastoma CT chest, abdomen and pelvis is indicated in order to identify the extent and spread of disease

Definitive diagnosis and staging can be confirmed via renal biopsy. Small round blue cells may be seen on histology - though this is not exclusive to nephroblastomas.

201
Q

What is the mangement of Wilm’s Tumour?

A

Depends on staging and histological profile of the tumour

Surgical options (nephrectomy), chemo- and radiotherapy are mainstay of management

Excellent prognosis with over >90% 5-year survival rate

202
Q

What is the Vesicouretric reflux?

A

Vesicoureteric reflux (VUR) is the term for the abnormal flow of urine from the bladder into the upper urinary tract.

203
Q

How is a diagnosis of Vesicouretric reflux
made?

A

Vesicouretric reflux is diagnosed by a MCUG scan. MCUG is a diagnostic test to visualise the radio-opaque dye refluxing up into the ureters +/- kidneys.

Risk factors are Male, neurogenic bladder, posterior urethral valves

204
Q

How do you classify Vesicouretric reflux?

A

Urine refluxes back up the ureters as there is either a short or absent valve where the ureters enter the bladder.

Grade 1 – into ureters only
Grade 2 – into pelvis causing no dilatation
Grade 3 – into pelvis causing mild dilatation
Grade 4 - into the pelvis causing moderate dilatation
Grade 5 – through to calyces

Presents with recurrent UTI and incomplete voiding - complications are:
- Recurrent UTIs and subsequent complications (sepsis, scarring, abscesses)
- Reflux nephropathy
- CKD

205
Q

What is the management of Vesicouretric reflux?

A

Grades 1-3 often spontaneously resolve

If VUR persists, complications arise or grade 4/5 VUR - surgery may be required

206
Q

What is malrotation?

A

Malrotation is a rare but extremely important diagnosis to make.

In malrotation, early in development the midgut rotates and fixates in an abnormal position. This abnormal position makes the bowel more prone to volvulus and for the duodenum to be compressed by peritoneal bands (Ladd bands)

Presents wit bilious vomiting within the first day of life

207
Q

What is the diagnosis and presentation of malrotation?

A

The diagnosis of malrotation is confirmed with an upper gastrointestinal contrast study, which will identify the point of the obstruction (as no contrast can pass distally from this location). The proximal bowel may be shaped like a corkscrew.

Malrotation must be managed with urgent surgery to relieve the obstruction

208
Q

How does mesenteric adenitis present?

A

presents with a history of diffuse abdominal pain in the context of a previous upper respiratory tract infection. There may be a low-grade fever with generalized abdominal tenderness, generally around the righ iliac fossa.

Examination of the mouth may reveal pharyngitis. Children usually present being quite well with no alteration in appetite. US abdomen will show enlarged mesenteric lymph nodes with a normal appendix. Importantly, the appendix may not always be visualized on US abdomen, so clinical presentation must be taken into account when ruling out appendicitis.

209
Q

What is the management of Mesenteric adenitis?

A

Often, children may be monitored overnight to look for worsening of their clinical status or safety netted about returning if any concerns arise. Mesenteric adenitis will improve spontaneously, appendicitis will not.

The option to go to surgery must be used with caution.

210
Q

What is febrile convulsions?

A

Febrile convulsions (or febrile seizures) are very common in children aged 6 months to 6 years. Once they have had one febrile convulsion, there is a 30-40% chance that they will have at least one further febrile convulsion.

Acute seizures are managed the same as any other seizure.
Treatment of any underlying cause of the fever (if appropriate)

There is no significant increased risk of developing seizure disorders or developmental problems later in life if the child has had a simple febrile convulsion.

211
Q

What is West Syndrome?

A

West syndrome is a seizure syndrome which starts around age 4-8 months. It is also called infantile spasms.

Children have seizures with myoclonic jerking, referred to as ‘jack knife’ spasms that occur in clusters.

Associated with developmental regression and high morbidity.

Infantile spasms are diagnosed by the history and by characteristic EEG findings of hypsarrhythmia.

212
Q

What are Benign Rolandic Seizures?

A

Benign rolandic seizures affect children aged 3-10 years old and occur almost exclusively during sleep.

Children characteristically have a tonic seizure overnight. This might be noticed by the parents if the child makes noises, or the child falls out of bed. They might also go unrecognised, but parents note that they find the child sleeping on the floor or with messy bedsheets in the morning.

he diagnosis of benign rolandic seizures is made from the history and characteristic EEG findings during sleep of centro-temporal spikes

Child will outgrow fits around puberty

213
Q

What are contraindications to vaccines?

A
  • Egg allergy
  • children with egg allergy should not receive yellow fever vaccination
  • the standard preparation of the influenza vaccine is only contraindicated in children who have been admitted to PICU as a result of their egg allergy. All other cases of children with egg allergy can safely have the standard vaccine in primary care settings.
  • The MMR vaccine is safe for children with an egg allergy. It is a common misconception that it contains components from eggs.
  • Previous proven anaphylaxis to vaccine components - children with serology confirming allergy to vaccine components should not receive further doses of that particular vaccine.
  • Immunosuppression - children with immunosuppression (e.g. from confirmed severe primary immunodeficiencies, chemotherapy or other immunosuppressive medications, or radiotherapy) should not receive live attenuated vaccines, such as the MMR vaccine, inhaled influenza vaccine or the varicella vaccine.
  • Intussusception - children with a history of intussusception cannot have the rotavirus vaccination
214
Q

What is status epilepticus?

A

Status epilepticus is a life-threatening neurological condition defined as 5 or more minutes of either continuous seizure activity or repetitive seizures without regaining consciousness.

215
Q

What is the management of status epilepticus?

A

This applies to an inpatient setting

  • Roll on side (if safe to do so) + high-flow oxygen + check glucose
  • First line treatment if seizure not resolved within 5 minutes: IV lorazepam or buccal midazolam or rectal diazepam
  • If seizure is continuing after 10 minutes: IV lorazepam
  • If seizure continues for another 10 minutes: IV lorazepam; call for senior support, including anaesthesia if not already done so
  • IV Phenytoin (IV phenobarbitone if patient normally takes phenytoin)
  • Rapid sequence induction with sodium thiopentone
216
Q

What is the complication of status epilepticus?

A

Diagnosis of non-convulsive status epilepticus can be difficult, but recognition is crucial because rapid termination helps to prevent serious brain injury, especially in patients with impaired consciousness. In most cases, treatment must precede any thorough investigation and must be initiated as soon as status epilepticus is suspected.

Complications of status epilepticus:

  • Focal neurological deficit (normally temporary)
  • Memory loss
  • Behavioural problems
  • Hypoxic brain injury
217
Q

What is Oesophageal atresia?

A

Oesophageal atresia describes a blind-ended oesophagus. A tracheo-oesophageal fistula is where there is communication between the trachea and oesophagus.

85% have a blind proximal oesophagus with the distal oesophagus having a fistula with the trachea

218
Q

What is the presentation of Oesophagheal atresia

A

Antenatal:

  • Polyhydraminos. As the oesophagus is blind-ending, fluid cannot pass through the baby to be absorbed. This results in an accumulation of fluid outside the baby – hence the polyhydramnios.

Postnatal:

  • Respiratory distress
  • Distended abdomen
  • Choking/problems with swallowing. The baby will have difficulty feeding and has overflow saliva.
  • Neonatal doctors will find difficulty passing NG tubes down
219
Q

What is the management of oesophageal atresia?

A

Oesophageal atresia requires surgical management to correct the anatomical abnormalities

220
Q

What is Hodgkin’s lymphoma?

A

Hodgkin’s lymphoma are malignant lymphomas characterised by the presence of Reed-Sternberg cells.

Risk factors are:
- Epstein Barr Virus
- HIV
- Immunosuppression
- Cigarette smoking

221
Q

What are the clinical features of Hodgkin’s lymphoma?

A

It typically presents in young adults with cervical or supraclavicular non-tender lymphadenopathy, though the location of diseased nodes can vary.

Alcohol-induced pain is a suggestive symptom. There may be symptoms caused by compression of surrounding structures e.g. shortness of breath or abdominal pain.

B symptoms (fever, night sweats, and weight loss), occur in 30% of patients. It is important to examine the patient for lymphadenopathy, and to check for hepatomegaly or splenomegaly.

Lymph node biopsy with evidence of Reed Sternberg cells is diagnostic. Blood results can predict a poor prognosis via low haemoglobin and raised LDH, as they indicate high red cell turnover. Staging scans are required to elucidate the extent of disease.

222
Q

What is the management of Hodgkin’s lymphoma?

A

Treatment is usually with chemoradiotherapy

Prognosis is highly variable, with a 5-year survival rate of <40% to >95% depending on the type of disease.

223
Q

What is Gastroenteritis?

A

Gastroenteritis is a common cause of diarrhoea and vomiting and can be caused by ingesting bacteria, viruses or toxins.

224
Q

What are the causes of Gastroenteritis?

A

Bacterial causes
The bacteria most commonly implicated are:

  • Staphylococcus aureus: usually found in cooked meats and cream products.
  • Bacillus cereus: mainly found in reheated rice.
  • Clostridium perfringens: usually found in reheated meat dishes or cooked meats.
  • Campylobacter
  • E.coli including E.coli 0157 (which can cause haemolytic uraemic syndrome)
  • Salmonella
  • Shigella

Viral causes
- Rotavirus: most common cause of infantile gastroenteritis
- Norovirus: most common cause of viral infectious gastroenteritis in all ages in England and Wales
- Adenoviruses: commonly cause infections of the respiratory system but can also cause gastroenteritis, particularly in children.

Parasitic causes
- Cryptosporidium
- Entamoeba histolytica
- Giardia intestinalis
- Schistosoma

225
Q

What is the management of gastroenteritis?

A

Gastroenteritis is usually managed conservatively with fluid replacement or oral rehydration sachets. If severe, antibiotics can be used:

  • Antibiotics are advised if the patient is: Systemically unwell, Immunosuppressed, Elderly

Salmonella and shigella are treated with ciprofloxacin.

Campylobacter is treatment with a macrolide, such as erythromycin.

Cholera is treated with tetracycline, to reduce transmission.

Food poisoning is a notifiable disease in the UK.

226
Q

What are the featuers of norovirus?

A

Noroviruses cause abrupt onset, usually short lived GI upset 24-48 hours after innoculation.

It is typically self limiting in healthy people but can cause pre-renal acute kidney injury in the frail.

Strict handwashing with soap and warm water are essential steps in limiting the spread in institutions such as hospitals, nursing homes, and cruise ships.

227
Q

What is Cerebral Palsy?

A

Cerebral palsy (CP) is a group of permanent movement disorders that occurs as a result of damage to a child’s CNS involved in motor control. The lesion that occurs is non-progressive i.e., it does not get worse.

228
Q

What are the causes of Cerebral Palsy?

A

Antenatal / intrapartum
- Hypoxic-ischaemic encephalopathy
- Infection

Post-natal
- Meningitis
- Trauma
- Haemorrhage
- Medication toxicity
- Kernicterus

Idiopathic

229
Q

What are the complications of Cerebral Palsy?

A
  • Injuries from impaired balance/coordination
  • Aspiration pneumonias from impaired swallowing
  • Muscle wasting
  • Scoliosis and other MSK deformities from impaired posture and muscle control
230
Q

What is the management of Cerberal Palsy?

A

Management requires specialist and MDT input to minimise and deal with complications of CP
Physiotherapy to help with movement and strength exercises
Occupational therapy may help with mobility aids, home adjustments and devices such as orthotics
Speech and language therapy for swallowing assessments
Dieticians if there are concerns regarding low intake due to swallowing difficulties
Medical management:
Baclofen for spasms
Botox injections for contractures
Surgical management:
Orthopaedic surgery for MSK deformities / injuries / tendon releases
General surgery if a PEG tube needs fitting

231
Q

What is Immune Thrombocytopenic Purpura?

A

Immune thrombocytopenia purpura (ITP) is an autoimmune disease of unknown cause where the number of circulating platelets is reduced.

n children it is a self-limiting disease following viral infection; in adults it is a chronic relapsing disease

232
Q

What are the investigations for Immune Thrombocytopenic Purpura?

A

FBC
Blood film
Bone marrow only required if atypical
Further tests to exclude other differential diagnoses (e.g. aplastic anaemia, leukaemia, thrombocytic thrombocytopenic purpura)

233
Q

What is the management of Immune thrombocytopenic purpura?

A

Platelet transfusions should be avoided in the absence of life-threatening bleeding. Steroids are used in persistent cases, and splenectomy may be considered in refractory cases.

234
Q

What are the normal Gross motor milestones?

A

Six weeks: Good head control - raises head to 45 degrees when on tummy

Six months: Sit without support - rounded back; rolls tummy (prone) to back (supine) - vice versa slightly later.

9 months: Stands holding on

12 months: Walks alone (12-18m). 18 months is threshold for concern.

18 months: Runs

2 years: Runs on tiptoes; walks up stairs - 2 feet per step

2.5 years: Kicks ball

3 years: Hops on one foot for 3 steps; walks up stairs 1 foot per step but still 2 feet per step on the way down.

4 years: Walks up and down stairs in an adult fashion

235
Q

What are the clinical features of Anaphylaxis?

A

Airway: swollen lips/tongue, sneezing
Breathing: wheezing, shortness of breath
Circulatory: tachycardia, hypotension/shock, angioedema
Gastrointestinal: abdominal pain, diarrhoea, vomiting
Skin: urticaria, pruritis, flushed skin

Can investigate by measuring serum levels of Mast cell tryptase to confirm diagnosis?

236
Q

What is the management of Anaphylaxis?

A

The critical treatment is adrenaline (1:1000, IM) (150mcg for under 6, 300mcg for between 6-12, 500mcg for 12+)

General Management of anaphylaxis involves:

Remove trigger if possible
Call for help early
Lie patient flat and raise legs
Administer adrenaline
When skills and equipment is available:

Manage airway and administer high flow oxygen
IV fluids if shocked
Administer hydrocortisone (not urgent)
Attach patient to monitoring
Patients should be monitored for 6-12 hours after the initial presentation in case of a rebound episode

Newly diagnosed patients (and their carers) with anaphylaxis should have the following before being discharged:

Counselling on to use adrenaline auto-injectors
Supply of 2 auto-injectors
Written advice
A referral to the local allergy service for follow-up

237
Q

What are innocent murmurs?

A

Innocent murmurs are very common benign murmurs that occur in around a third of children at some point during childhood.

Examples include: Still’s Murmur, Venous hum, Acute infective illness

238
Q

What are the features of innocent murmurs?

A

The features of innocent murmurs can be summarised by the 6 S’s. They do not all need to be present. These are:

Soft
Systolic (note: all diastolic murmurs are pathological)
Sensitive (changes with the child’s position / alongside respiration)
Short (not holosystolic)
Single (no additional sounds)
Small (localised, non-radiating)

239
Q

What is the management of Innocent murmurs?

A

Innocent murmurs can be made more prominent when children have a febrile illness.

If a murmur like this is discovered when a child has a febrile illness, the best option is to review the child in a few weeks. This will allow assessment of the murmur to see if it has resolved with the infection, in keeping with an innocent murmur.

If the murmur persists, then further investigation (e.g. echocardiogram) could be considered.

240
Q

What is Cyanotic Heart Disease?

A

Cyanotic heart disease refers to congenital heart defects resulting in a right-to-left shunt

Examples:
Transposition of the great arteries (here the aorta and pulmonary trunk have their insertions swapped around)

Pulmonary and tricuspid atresias (resulting in the right side of the heart to be dead-end)

Tetraology of Fallot (where pulmonary stenosis in combination with a large ventricular septal defect result in shunting at the ventricular level)

241
Q

How is a diagnosis of Cyanotic heart disease made?

A

Usually made antenatally during routine scans

If undetected antenatally, presentation occurs within the first few weeks of life with babies being visibly cyanotic

The central investigation for these cases is echocardiography to characterise the anatomy and heart function

242
Q

What is the management of Cyanotic heart disease?

A

Definitive management of cases rests upon surgical correction of the defect or a heart transplant

While awaiting definitive correction, some cases may be given prostaglandin E to maintain patency of the ductus arteriosus

Ibuprofen is controindicated on patients with duct dependent leasion as it can result in the duct closing - COX inhibitor reduces synthesis of prostaglandins

243
Q

What is Reye’s Syndrome?

A

Reye’s syndrome is a neurological condition that occurs almost exclusively in children. Its cause is poorly understood. No cure exists and it is managed supportively.

Some evidence links the development of Reye’s syndrome with the use of aspirin while children have a viral infection

As a result, aspirin is now a contraindicated antipyretic and anti-inflammatory in children given the vast majority of presentations fevers are caused by viruses and there is currently no rapid, definitive way of distinguishing between viral and non-viral causes.

Abnormal liver function tests, vomiting and encephalopathy (slurred speech, lethargy, coma and potentially death).

244
Q

What is Fragile X Syndrome?

A

Fragile X syndrome is a genetic condition caused by a CGG trinucleotide repeat in the FMR1 (fragile X mental retardation 1) gene on the X chromosome, affecting synaptic development.

Fragile X syndrome is the most common inherited cause of learning disabilities.

245
Q

What is the presentation of Fragile X syndrome?

A

Fragile X syndrome can have the following features:

A long face
Large, protruding ears
Intellectual impairment
Macroorchidism (large testes) - post-pubertal
Social anxiety
Autistic spectrum features

246
Q

What is management of Fragile X syndrome?

A

As with any patient with learning difficulties, a multidisciplinary team approach to management is required for fragile X syndrome.

247
Q

What is the classification of Anaemia in infants?

A

In general, the causes of anaemia are classified as to whether they cause reduced red cell production, increased red cell destruction (haemolysis), or blood loss. Additionally, premature babies may also develop anaemia for a variety of reasons which come together as ‘anaemia of prematurity’.

248
Q

What are the causes of reduced red cell production?

A

Iron deficiency
Folic acid deficiency
B12 deficiency
Red cell aplasia (e.g. parvovirus B19 infection)
Chronic renal failure
Chronic inflammation

249
Q

What are the causes of increased erythrocyte destruction?

A

Glucose 6 phosphate dehydrogenase deficiency (G6PD)
Hereditary spherocytosis (red cell membrane defect)
Sickle cell disease
Thalassemia
Haemolytic disease of the newborn

250
Q

What is iron deficiency anaemia?

A

Iron deficiency anaemia is a relatively common cause of anaemia in infants and children.

It can be caused by reduced iron intake, poor iron absorption and/or chronic blood loss (e.g., menstruation).

Excessive ingestion of cow’s milk can cause iron deficiency in infants due to its low iron content and the fact that it reduces iron absorption.

251
Q

How does Iron deficiency anaemia cause Pica?

A

Children and infants with iron deficiency may present with pica (urges to eat non-food things like soil) as an attempt to compensate for the missing mineral.

252
Q

What are the clinical features of UTI in Paeds?

A

Clinical features in babies under 3 months

Fever
Vomiting
Lethargy
Irritability
Poor feeding
Failure to thrive
Offensive urine

Clinical features in babies 3-12 months

Fever
Poor feeding
Abdominal pain
Vomiting

Clinical features in children above 1 year old

Frequency
Dysuria
Abdominal pain
Note: fever is less common once over 1 year old

253
Q

How is the diagnosis of UTI in paeds made?

A

Positive leukocytes and nitrites on urine dip

Positive urine culture with appropriately collected urine (clean catch; non-contaminated collection pad/catheter sample/suprapubic aspirate) - clean catch is preferred but babies can’t pee voluntarily

254
Q

What is the management of UTI in paeds?

A

Oral antibiotics suffice in most cases unless urosepsis is suspected

Note: a pregnancy test should be done in females of reproductive age to avoid teratogenic antibiotics

Antibiotics should be guided by latest urine culture sensitivities (if available), local guidelines and patient’s allergy status

Lower UTIs are usually treated with nitrofurantoin
Upper UTIs are usually treated with a cephalosporin

255
Q

What is the imaging for UTI in paeds?

A

Ultrasound scan: this is done to identify structural abnormalities. It does not need to be done acutely unless a patient has an atypical UTI

Dimercaptosuccinic acid (DMSA) scintigraphy scan: checks for scarring. It should not be done until at least 4 months after the UTI

Micturating cystourethrogram (MCUG) to assess for abnormal bladder function

256
Q

What is an atypical UTI?

A

A UTI is classed as atypical if any of the following are present:

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

Children who do not require follow-up imaging do not need routine GP or paediatric follow-up

Children with recurrent UTIs should be referred to secondary care for further investigation, especially babies who have faltering growth

257
Q

What are the complications of UTI?

A

Renal scarring and CKD
Sepsis

258
Q

What is Patent Ductus arteriousus?

A

This refers to the condition where the ductus arteriosus remains patent after 4 weeks of life.

259
Q

How does patent ductus arteriousus present?

A

A persistent ductus arteriosus may be asymptomatic or present with signs of heart failure.

The classical murmur heard is a continuous ‘machine-whirring’ murmur throughout the cardiac cycle.

260
Q

What is the management of patent ductus arteriousus?

A

Treatment of a persistent ductus arteriosus is only required if the baby is symptomatic

About 1/3 of patients with a patent ductus arteriosus require medical treatment with an NSAID. NSAIDs inhibit prostaglandin synthesis which normally help maintain ductal patency. Paracetamol may be used instead of an NSAID.

Medical closure of PDAs are more successful in premature babies.

Around 8% of patients will require surgical ligation to close the ductus arteriosus.

261
Q

What is the treatment for candidal infection in babies?

A

Nystatin

262
Q

What is the treatment for nappy rash? (ammoniacal nappy rash)

A

Regular changing and washing the groin area
Exposing the area to air as much as possible
Avoiding over moisturising will also help prevent rash formation

263
Q

What is intussusception?

A

Intussusception describes invagination (telescoping) of proximal bowel into a distal segment (commonly ileum) passing into the caecum through the ileocaecal valve

Peak ages between 3 months and 2 years old

264
Q

What are the complications of Intussusception?

A

Complications include:

Bowel perforation
Peritonitis
Gut necrosis

265
Q

What is the presentation of Intussusception?

A

It presents with paroxysmal, severe colicky pain and the child characteristically draws up his legs. Tripod position

The child recovers but becomes increasingly lethargic. Other symptoms include:

May refuse feeds

Vomiting may be bile stained depending on site of intussusception

Passage of red currant jelly stool compromising of blood-stained mucus

Abdominal distension

Sausage-shaped mass may be palpated in the abdomen

An abdominal ultrasound will show classic ‘target’ sign (concentric echogenic and hypoechogenic bands) and can also show complications of disease such as free-abdominal air or presence of gangrene.

266
Q

What is the management of Intussusception?

A

Rectal air insufflation or contrast enema (only to be performed if child is stable)

Operative reduction indicated if –
Failure of non-operative management
Peritonitis or perforation is present
Haemodynamically unstable

267
Q

What is the management of a chocking child?

A

If conscious and coughing - encourage to cough to dislodge the obstruction

If conscious but unable to cough - alternate between giving 5 back blocks and 5 (chest for infant/ abdominal thrust for child)

If unconscious then 5 rescue breaths should be given before immediately starting CPR - if small object like grape, breaths might be a good idea first to dislodge as grape the size of breathing hole in baby

268
Q

What is Caput Succedaneum?

A

Caput succedaneum occurs in the newborn as a result of the pressure of the top of the infant’s skull against the dilating cervix during labour

It manifests as a subcutaneous serosanguineous fluid collection superficial to the cranium but below the skin.

Does not require treatment and resolves spontaneously over a few days

269
Q

What are the social, emotional and behavioural milestones?

A

6 weeks Smiles No smile by 6 weeks

3 months Laughs

6 months Holds and eats food, Stranger anxiety

10 months Waves goodbye

24 months Play next to other children

36 months Eats with a fork
Bowel control
Plays with other children
Can play alone without carers nearby

48 months Bladder control (girls develop this earlier than boys)
Can dress and undress self

At 3.5 years children should be engaging in interactive play and absence suggests problems

270
Q

What is the mode of inheritance for Down’s syndrome?

A

Meiotic non-disjunction - most cases resulting from an error during meiosis which leads to a gamete with 2 copies of chromosome 21 being produced. The incidence of trisomy 21 resulting from non-disjunction is related to maternal age

271
Q

What is the management of Diabetic ketoacidosis in kids?

A

If patient is alert, not significantly dehydrated and able to tolerate oral intake without vomiting –> encourage oral intake and give subcutaneous insulin injection

If patient is vomiting, confused, or significantly dehydrated –> give IV fluids (initial bolus of 10ml/kg 0.9% NaCl then discuss with a senior) and insulin infusion at 0.1 units/kg/hour 1hr after starting IV fluids. If there is evidence of shock, the initial bolus should be 20ml/kg.

If patient is shocked or comatose –> ABCDE approach for emergency resuscitation

Do not stop intravenous insulin infusion until 1 hour after subcutaneous insulin has been given.

272
Q

What is Bronchiolitis obliterans?

A

Bronchiolitis obliterans (constrictive bronchiolitis) is a rare condition associated with permanent obstruction of the bronchioles due to chronic inflammation which leads to scar tissue formation.

273
Q

What is the cause of Bronchiolitis Obliterans?

A

It is commonly caused by viral infections. Adenovirus is the most common cause.
It can also follow bone marrow or lung transplants.

274
Q

What is the presentation of bronchiolitis obliterans?

A

Symptoms are progressive and normally include:

Dry cough
Shortness of breath
Hypoxia
Wheezing
Lethargy

275
Q

How is a diagnosis of bronchiolitis obliterans made?

A

Chest X-rays can often appear normal so diagnosis is often made using a CT scan or lung biopsy.

A significantly reduced FEV1 is noted in bronchiolitis obliterans and careful monitoring is useful in detecting the conditions in lung transplant patients. In bronchiolitis obliterans the FEV1 is 16-21%.

More recently repeat CT scans have been used to detect early lung changes allowing for an earlier diagnosis compared to serial FEV1 measurements.

276
Q

What is the management of bronchiolitis obliterans?

A

There is no cure for bronchiolitis obliterans

Immunosuppressive agents like tacrolimus, cyclosporin, mycophenolate mofetil, and prednisone has been used to treat bronchiolitis obliterans after transplant

277
Q

What is osteosarcoma?

A

Osteosarcoma is the most common bone cancer in paediatric patients.

Pain and swelling with a prolonged onset are characteristic
Typically occurs in the metaphyses of long bones

278
Q

How is a diagnosis of osteosarcoma made?

A

The X-ray findings of new bony growth and a periosteal reaction causing a sunburst appearance are typical of osteosarcoma

Signs visualised on X-ray should prompt and urgent full body CT in order to assess for any metastases.

The definitive diagnosis is confirmed using bone biopsy taking into account the clinical picture and radiological findings.

279
Q

What is the management of osteosarcoma?

A

MDT approach, which may include surgery, radiotherapy and chemotherapy

280
Q

What is precocious puberty?

A

Precocious puberty should be considered whenever secondary sexual characteristic appear before 8 years of age in females and before 9 years of age in males.

Can be either dependent or independent of gonadotrophin

281
Q

What are the causes of Gonadotrophin-dependent precocious puberty?

A

Idiopathic (>90%)
Brain tumours
Cranial radiotherapy

Structural damage to the brain, for example, from:
Hydrocephalus
Post-infection (meningitis)
Traumatic head injury

282
Q

What are the causes of Gonadotrophin independent precocious puberty?

A

Gonadal tumours

Adrenal or liver tumours (may cause virulisation)

Congenital adrenal hyperplasia

283
Q

What are the complications of precocious puberty?

A

Left untreated it can lead to accelerated skeletal development and bone plate fusion resulting in a reduced final height.

The early onset of the physical changes experienced can also have a significant impact on the affected child’s psychological wellbeing.

284
Q

What are the investigations for precocious puberty?

A

These will usually be led by a specialist. They include:

Oestradial/testosterone
Adrenal androgens
Brain MRI
Pelvic ultrasound
Intra-abdominal imaging if adrenal or hepatic tumour suspected
Bone age

285
Q

What is the managemnet of precocious puberty?

A

GnRH analogues can play a role to suspend progression of puberty

286
Q

What is the first sign of puberty in boys and girls?

A

Enlargement of the testes >4ml in boys and development of the breasts in girls

287
Q

What is Transient tachypnoea of the newborn?

A

Transient tachypnea of the newborn (TTN) is a parenchymal lung disorder characterised by pulmonary oedema resulting from delayed resorption and clearance of foetal alveolar fluid.

It is the commonest cause of respiratory distress in the term baby.

Presents as Respiratory distress (tachypnoea, increased work of breathing and potentially desaturated/cyanotic)

TTN is diagnosed both clinically and by hyperinflated lungs and a fluid level on chest X-ray

288
Q

What is the cause of Transient tachypnea of the newborn (TTN)

A

TTN commonly occurs after a C-section as passage through the birth canal applies external pressure on the thorax to help expel the fluid.

Some babies have delayed resorption of the fluid due to suboptimal epithelial clearance.

289
Q

What is the management of TTN?

A

Oxygen support

TTN should resolve in a couple of days with resorption of lung fluid within the first 3 days of life. Oxygen support might be required for several days more.

290
Q

What is Tuberous sclerosis?

A

Tuberous sclerosis is an autosomal-dominant, neurocutaneous syndrome characterised by cellular hyperplasia, tissue dysplasia, and hamartomas involving multiple organs.

Caused by 2 gene loci: TSC1, found on chromosome 9q34 - hamartin;
TSC2, found on chromosome 16p13 - tuberin

291
Q

What are the clinical features of tuberous sclerosis?

A

Infantile spasms with hypsarrhythmia seen on electroencephalogram

Skin: Ash leaf macules; Shagreen patches (hypopigmented macules); facial angiofibromas; subungual fibromas

Neurological/Cognitive: Learning disabilities; Sub-ependymal nodes; Seizures/Epilepsy

Renal: Angiomyolipomas

Cardiac: Cardiac rhabdomyomas

292
Q

What is the management of Tuberous sclerosis?

A

Angiofibromas <2mm in diameter will respond to laser therapy

Angiofibromas >2mm in diameter require dermabrasion or surgical resection

Many patients with renal disease will require anti-hypertensive therapy

Tubers should be regularly imaged and may require surgical resection

293
Q

What is the management of depression in children?

A

Mild depression can be managed with wathcful waiting and advice about healthy habits

Consider referral to CAMHS for children with moderate to severe depression. Treatment options include:
Full assessment

Psychological therapy (first line)
Fluoxetine (first line antidepressant in children under 18; followed by Sertraline and Citalopram)

Admission may be required if there is high risk of self harm, suicide or self-neglect

294
Q

What is the tanner staging for puberty?

A

Tanner staging for pubic hair (both sexes)
Pre-pubertal: no pubic hair

Some downy hair at the base of the penis in males or over the labia majora in females

Coarser, thicker and curlier hair that spreads laterally to cover more of the pubis

Adult hair, not spreading to the thighs

Adult hair, spread to the medial thighs

Tanner staging for females
Breast changes:
Prepubertal

Breast bud

Juvenile with smooth contour

Areola and papilla project above breast

Adult contour

Tanner staging for males
Male genital changes:
Prepubertal, testicular volume <1.5ml

Penis grows in length only, testicular volume 1.5-6ml

Penis grows further in length and circumference, testicular volume 6-12ml

Development of glans penis, darkening of scrotal skin, testicular volume 12-20ml

Adult genitalia, testicular volume >20ml

295
Q

What is the cause of congenital heart block?

A

It is most commonly associated with maternal Systemic Lupus Erythematosus. It is linked to the presence of maternal anti-Ro and/or anti-La antibodies, although the exact mechanism is poorly understood.

If child is symptomatic, they will require a pacemaker

296
Q

What is Perthes disease?

A

Perthes disease is avascular necrosis of the femoral head in children aged 4-8. Disruption of blood flow to the femoral head causes ischemia.

297
Q

What is the presentation of perthes disease?

A

Ischaemia in Perthes disease presents with gradual onset limp and hip pain. Pain can also be referred to the knee.

Pain from transient synovitis would be similar, but would only last around 2 weeks and should have preceeding viral illness; pain persisting for >4 weeks should raise suspicion for Perthes disease.

298
Q

How is a diagnosis of perthes disease made?

A

Diagnosis of Perthes disease is with a hip X-ray, which shows sclerosis and fragmentation of the epiphysis. An X-ray may be initially normal, and so should be repeated later if clinical suspicion persists.

299
Q

What is the management of perthes disease?

A

If less than 50% of the femoral head is involved, the condition can resolve with conservative measures like bed rest and traction. Outcomes in this context are good.

If more than 50% of the femoral head is involved, a plaster cast keeping the hip abducted or osteotomy may be required. This has poorer outcomes, and carries a high risk for degenerative arthritis later in life.

300
Q

What is the most common cause of pneumonia in children?

A

Streptococcus Pneumoniae.

301
Q

What drug can cause Long QT in children?

A

Macrolide antibiotics like clithromycin or erythromycin

302
Q

What blood test marker is most specific for bacterial sepsis?

A

Procalcitonin is an emerging blood test that shows specificity for inflammatory markers and can help detect bacterial sepsis.

303
Q

What is Sickle cell disease?

A

Sickle cell disease is a disease of red blood cells caused by an autosomal-recessive single gene defect in the beta chain of haemoglobin, which results in sickle cell haemoglobin (HbS).

Sickled red bloods cells can clump together and obstruct blood flow and break down prematurely. They are associated with varying degrees of anaemia. Obstruction of small blood capillaries can cause painful crises, damage to major organs, and increased vulnerability to severe infections.

304
Q

What are the complications of sickle cell disease?

A

Vaso-occlusive crises
Anaemia
Iron overload - due to repeated transfusions
Jaundice
Avascular necrosis of the hip or shoulder
Stroke
Dactylitis in infants and children
Aplastic crisis - typically from parvovirus-B19 infections
Priapism - this is an emergency and urology should be contacted urgently
Splenic sequestration
Pulmonary hypertension
Growth and developmental delay
Prolferative retinopathy and retinal haemorrhages
Leg ulcers

305
Q

What are vaso-occlusive crises in sickle cell disease?

A

These are a common, painful complication of sickle cell disease

Sickled red blood cells clump together and occlude vessels, resulting in ischaemia of downstream tissues

The most common complaint is of pain, and recurrent episodes may cause irreversible damage

One of the most severe forms is the acute chest syndrome which occurs as a result of infarction in the lung parenchyma

306
Q

What is the management of vaso-occlusive crises?

A

Strong pain relief (IV opiates) is a priority

Oxygen as required and IV fluids are normally given in addition to this

Treat any suspected infections

Top-up transfusions may be required

Haematology input should be sought

Incentive spirometry and physiotherapy should additionally be used in cases of acute chest syndrome to minimise the risk of atelectasis

Long term management is:

Top-up transfusions, folic acid and iron chelation are the mainstay of regular supportive treatment

Immunisations: influenza and pneumococcal

Prophylactic penicillin if asplenic

Genetic counselling available

307
Q

How does aplastic crisis present in sickle cell disease?

A

An aplastic crisis (reticulocytes <1%) is also known as transient red cell aplasia or reticulocytopaenia. Aplastic crisis in Sickle Cell Disease is characterised by the combination of tachypnoea, tachycardia in the absence of splenomegaly. Given the absence of pain, jaundice, fever, pain and splenomegaly this is the most likely complication

308
Q

How does haemolytic anemia present?

A

Same as aplastic crisis but with splenomegaly and jaundice

309
Q

What is pertussis?

A

Pertussis (whooping cough) is a severe URTI characterised by severe bouts of spasmodic coughing, which may lead to apnoea in infants, followed by characteristic gasping for breath.

Caused by Bordetella pertussis

A pertussis vaccine exists and is part of the routine immunisation schedule in the UK
Some breakthrough cases of pertussis occur despite children being vaccinated

310
Q

What is the presentation of pertussis?

A

Cough, with prolonged period of coughing per episode

Inspiratory whooping

Rhinorrhoea

Post-tussive vomiting

Apnoeas

311
Q

What is the management of Whooping Cough?

A

Macrolides are typically first-line i.e clarithromycin

If antibiotics are started late, they may not alter the course of illness for the patient, but still have benefit in minimising transmission to other people

Pertussis is a notifiable disease

If child has cough for more than 21 days do not treat with macrolide, send home and manage with paracetamol

312
Q

What is a reflex anoxic seizure?

A

Reflex anoxic seizures are a common benign cause of seizure in children from a temporary lack of blood flow to the brain

Have a precipitating trigger such as sudden pain or vomiting causes over stimulation of vagus nerve

No post ictal confusion

Management is reassurance

313
Q

What is the presentation of a breath holding attack

A

Breath holding spells are episodes where young children hold their breath during periods of crying to the point that they faint.

The faint can even be accompanied by turning blue and jerking of the limbs.

The child recovers quickly with no post-ictal confusion.

Diagnosed through history alone - management is again reassurance - tends to subside as they grow older

314
Q

What is the most common respiratory tract infection in patients with cystic fibrosis?

A

Pseudomonas aeruginosa

315
Q

What is the most common cause of community acquired pneumonia?

A

Streptococcus pneumoniae

316
Q

What is Coarctation of Aorta?

A

A narrowing of the aorta. It is typically just before the ductus arteriosus.

317
Q

What is the presentation of coarctation of aorta?

A

Presentation varies dramatically depending on the site and severity of the coarctation. It can be asymptomatic if mild. Otherwise presentations include:

Incidental finding on ausculation of a systolic murmur. Typically heard loudest between the scapulae.

Radio-femoral delay (+/- radio-radial delay depending on the site and severity of the coarctation) ( a delay between the upstroke of the right radial pulse and a femoral pulse)

If the coarctation is severe, neonates present in shock once the ductus arteriosus closes due to low perfusion pressures after the coarctation - prostaglandin e will keep ductus arteriosus open

Hypertension (either symptomatic or incidentally found)
Heart failure

318
Q

What is the management of Coarctation of the aorta?

A

Coarctation is monitored via echocardiography and antihypertensives are used to control blood pressure if needed

Most cases requiring intervention are corrected via angioplasty and stent insertion

Severe cases require surgery

Neonates presenting in shock due to critical coarctation require prostaglandin to keep the ductus arteriosus patent until the defect is corrected

319
Q

What is an Atrial Septal defect?

A

An atrial septal defect (ASD) is a relatively common cardiac malformation where there is a hole between the left and right atria (caused by a defect in the septum secundum during development).

320
Q

How does an atrial septal defect present?

A

May be totally asymptomatic

Incidentally found via by hearing an ejection systolic murmur on auscultation

The murmur is heard loudest on the lower-left sternal edge and is a flow murmur through the pulmonary valve

Patients may present in heart failure if they decompensate

Confirmed via echocardiogram

Complications include heart failure - typically in twenties or thirties, and paradoxical embolisms

321
Q

What is the management. of atrial septal defect?

A

Depends on the severity of the lesion. Most ASDs are managed conservatively but some require surgery.

ASDs are kept under surveillance via routine echocardiograms

322
Q

What antidepressant is used in paeds

A

Fluoxetine

323
Q

What is potter’s sequence?

A

Potter’s sequence describes the typical physical appearance caused by pressure in utero due to oligohydramnios. The olighydramnios can occur due to a range of variety of reasons. When it is a result of bilateral renal agenesis, it is called Potter Syndrome.

It is called Potter sequence to reflect that the phenotype results due to a sequence of events resulting form the oligohydramnios:

Renal tract complications result in reduced amniotic fluid production
The lack of amniotic fluid results in foetal compression causing the characteristic facial and limb features
The lack of amniotic fluid also affects lung development, causing pulmonary hypoplasia

324
Q

What is the presentation of potter’s sequence?

A

Flattened ‘parrot-beaked’ nose

Clubbed Feet

Recessed chin

Downward epicanthal folds

dry loose skin

Smaller lung fields ( can lead to baby having respiratory distress at birth

Low-set, cartilage-deficient ears (known as ‘Potter’s ears’)

325
Q

What is the presentation of brain tumours in children?

A

Signs and symptoms consistent with presentation of a brain tumour include:

Persistent headaches that are worse in the morning
Signs of raised intracranial pressure
Seizure in an older child with no fever and no previous history of seizures

326
Q

What are the types of brain tumours in children?

A

Astrocytoma: Most common brain tumour in children. graded from 1 (pilocytic astrocytoma) to 4 (glioblastoma multiforme). Grade 1 tumours have an excellent prognosis as opposed to grade 4 tumours (95% vs 20% 5-year survival).

Medulloblastoma: Second most common brain tumour in children. Highly aggressive.
Meningioma (tumours of arachnoid cells of the meninges)

Craniopharyngioma: Originates from the pituitary gland and can present with homonymous hemianopia from pressure on the optic chiasm

Ependymomas (tumours of the cells of the ventricular system)

327
Q

What is the diagnosis and management of brain tumours?

A

Suspected space occupying lesions are investigated with imaging of the brain (MRI or CT)

Highly dependent on the tumour site, size, type and staging
Requires specialist input and MDT management, and may involve chemotherapy, radiotherapy and surgery

328
Q

What is the Direct Coombs test?

A

Jaundice developing within the first 24 h of life is always pathological.

Causes include Rhesus haemolytic disease and ABO incompatibility, both of which can be detected by direct Coombs test.

Other causes include glucose-6-phosphodehydrogenase (G6PD) deficiency and congenital infections which can be diagnosed by G6PD assay and TORCH infection screen, respectively.

329
Q

What is an indication of critical care admission in paediatric sepsis?

A

High lactate

330
Q

What is a Branchial cyst?

A

A branchial cyst is an embryological remnant from the development of the branchial arches which form parts of the head and neck.

331
Q

How does a branchial cyst present?

A

It manifests as a painless cystic mass anterior to the sternocleidomastoid muscle just below the ear that typically becomes apparent in late childhood.

Can be managed conservatively or surgically excised

332
Q

What is Prader-Willi Syndrome?

A

Prader-Willi syndrome is a genetic condition that is inherited by genomic imprinting. In imprinting, gene expression is influenced by whether the gene was inherited from the mother or the father. Imprinting can be caused by several mechanisms, including:

​ (a) deletion of either the maternal or paternal copy of an allele

​ (b) inheritance of 2 copies from one parent and none from the other (uniparental disomy)

On chromosome 15 - is maternal copy - if maternal copy is deleted and only paternal is expressed then its angelman’s syndrome

333
Q

What are the clinical features of Prader-Willi syndrome?

A

Hypotonia and poor feeding in infancy
Developmental delay in early childhood
Learning disabilities
Short stature
Hyperphagia and obesity in older childhood. Parents commonly report children will eat anything and everything and be hungry all the time, to the extent that they have to lock everything in the house and the child will even eat bars of soap if left unsupervised.

confirmed with genetic testing

management in MDT approach - with focus on managing excessive eating. to avoid complications of obesity

334
Q

What is Ewing’s Sarcoma?

A

Ewing’s sarcoma makes up 14% of all bone sarcoma diagnoses making it the second most common bone cancer in children and adolescents.

335
Q

What is presentation of Erwing’s Sarcoma?

A

It most commonly affects teenagers and young adults with the pelvis, thigh bone and shin bone being the most commonly affected areas.

Bone pain particularly occurring at night

A mass or swelling

Restricted movement in a joint

Diagnosis is made via a bone bioposy and management is with surgery, radiotherapy and chemotherapy

336
Q

What is a common cause of Cerebral palsy?

A

Infants at risk of hypoxic ischaemic encephalopathy are those >42 weeks who get stuck during a prolonged labour.

HIE is a common antenatal cause of cerebral palsy.
Children with cerebral palsy present with delayed achievement of motor milestones and hypertonia

337
Q

What is congential adrenal hyperplasia?

A

Congenital Adrenal Hyperplasia (CAH) is a genetic defect in one of the enzymes involved in the synthesis of steroid hormones in the adrenal cortex.

90% of which is caused by 21-hydroxylase deficiency. There is virilisation of the female external genitalia due to overproduction of ACTH and subsequently adrenal androgens, and a salt wasting crisis caused by deficiency of aldosterone. These patients have raised 17-A-hydroxylase

338
Q

What is the presentation of CAH

A

Presentation is variable and depends on which in the biosynthetic pathway the defect lies.

Ambiguous genitalia
Hypotension
Salt-wasting crises and dehydration
Vomiting
Virilisation
Precocious puberty (males)

339
Q

What is the management of CAH?

A

Immediate treatment includes replacing fluid and sodium with intravenous saline (if salt-wasting), and giving hydrocortisone which exerts both a glucocorticoid and mineralocorticoid effect.

Lifelong treatment with replacement of the deficient hormones is usually necessary: hydrocortisone and fludrocortisone as appropriate

Virilised females may require surgery

Those who are steroid dependent should be counselled about the importance of taking their medication and about sick day rules.

340
Q

What is the treatment of poly and oligioarticular JIA?

A

Oral methotrexate - polyarticular

Intra-articular methylprednisolone acetate injection - oligioarticular JIa (4 or fewer joints)

341
Q

How can Congenital hypothyroidism present?

A

hypotonia, macroglossia, an umbilical hernia, reduced feeding and constipation (mild soft abdominal distention)

Will present with raised TSH which can be seen on heel prick test taken at 5-8 days of life

342
Q

What is Juvenile dermatomyositis?

A

Juvenile dermatomyositis (JDM) is the paediatric form of dermatomyositis.

343
Q

What are the clinical features of Juvenile dermatomyositis?

A

Fatigue
Joint pain
Weakness of proximal muscles
Malar rash
Heliotrope rash over eyelids

344
Q

How is the diagnosis of Juvenile Dermatomyositis?

A

Bloods may show:

Raised ESR
Raised creatine kinase (CK)
In addition to bloods indicating JDM, diagnoses can be confirmed via:

MRI scans showing muscle oedema
Muscle biopsies
Nailfold capillaroscopy showing microangiopathy

345
Q

What is the management of Juvenile Dermatomyositis?

A

Steroids during acute flares

Steroid-sparing immunosuppression for maintenance

346
Q

What are the features of Vitamin K deficiency?

A

It is common for newborn babies to have Vitamin K deficiency, especially if exclusively breastfed. The features of Vitamin K deficiency are bruising more easily, and, if severe enough, internal bleeding.

Haemorrhagic disease of the newborn is potentially life-threatening as newborn babies progress rapidly into haemorrhagic shock

347
Q

What is the management of Vitamin K?

A

Subcutaneous Vitamin K injections are routinely offered at birth to prevent haemorrhagic disease of the newborn

Oral vitamin K replacement is also available but is not as reliable

348
Q

What is the cause of scissor walking in Cerebral palsy?

A

Periventricular damage (due to a hypoxic ischaemic event during a prolonged delivery due to the baby getting stuck) is the aetiology behind spastic diplegia. The gait is classically termed as scissor walking

349
Q

What bacteria is sickle cell disease patients suseptible to?

A

Salmonella typhi - This patient has sickle cell disease, and is susceptible to Salmonella osteomyelitis

350
Q

What is the most common caustive organism of osteomyelitis?

A

Neisseria meningitidis

351
Q

What is Bacterial tracheitis?

A

Bacterial tracheitis is a rare but dangerous condition that presents similar to viral croup but the child has a high fever and has rapidly progressive airway obstruction with copious thick airway secretions.

It is most commonly caused by Staphylococcus aureus, typically following a viral upper respiratory tract infection.

IV antibiotics are required in severe cases
Some cases may require intubation

352
Q

What is Phenylketonuria?

A

Phenylketonuria (PKU) is a condition caused by an autosomal recessive mutation in the phenylalanine hydroxylase enzyme. Deficiency of this enzyme causes levels of phenylalanine to build up to toxic levels in the blood, which causes irreversible damage to the nervous system.

353
Q

What is the presentation of phenylkentonuria?

A

If not detected during the newborn screen, presentations include:

Seizures
Poor growth
Hypopigmentation resulting in fair skin and hair
Musty body odour

Long term complications as a result of undiagnosed or poorly managed PKU include intellectual impairment, seziures, hyperactivity and an increased risk of eczema.

354
Q

What is the management of PKU?

A

PKU is managed with a lifelong low-protein diet and supplemental amino acids to avoid phenylalanine.

Patients with PKU must also be careful to avoid food and drink containing the artificial sweetener aspartame, as this is converted to phenylalanine. Aspartame is in diet fizzy drinks, sugar-free squash drinks and some kinds of chewing gum

If the child’s diet is managed early and consistently, they can go on to lead normal healthy lives

355
Q

What does Galleazi test do?

A

In Developmental dysplasia of the hip with subsequent length discrepancy - galleazi’s test is used to indicate whether the shortening is femoral or tibial

356
Q

What is delayed puberty?

A

Delayed puberty is classed as no pubertal development by the age of 14 in boys and 13 in girls.

357
Q

What are the causes of delayed puberty?

A

The most common cause of delayed puberty is constitutional delay of growth and puberty, in which children are ‘late bloomers’ and enter normal puberty later than their peers. They will eventually reach full normal height and development.

Other (much less common) causes of delayed puberty include those associated with low and high gonadotrophin secretion.

Low gonadotrophin secretion induces pituitary disorders (craniopharyngiomas, Kallmann syndrome, panhypopituitarism or isolated gonadotrophin deficiency), hypothyroidism, or systemic disease (e.g. cystic fibrosis or Crohn’s).

High gonadotrophin secretion causes include chromosomal disorders (Turner’s XO, Klinefelter’s XXY), congenital adrenal hyperplasia, or acquired hypogonadism (e.g. after chemotherapy)

358
Q

How is the diagnosis of constitutional delay made?

A

Constitutional delay is confirmed with a hand-wrist X-ray to confirm bone age, which is delayed in constitutional bone delay because the epiphyseal plates are late to fuse.

359
Q

What is Pierre Robin sequence?

A

Pierre Robin sequence or syndrome is a genetic condition in which an infant is born with micrognathia (small jaw), glossoptysis (posterior tongue) and often cleft palate. As a result the infant may have breathing or feeding difficulties shortly after birth.

360
Q

What is the management of Pierre Robin sequence?

A

Initial management involves airway management and feeding support. Physiological effects usually resolve within 3–6 months however surgical repair may be indicated, particularly in cases which co-exist with a cleft palate. Most babies with Pierre Robin sequence will grow up to lead healthy adult lives.

361
Q

What is the most common finding at paediatric cardiac arrests?

A

Asystole is the most common finding at paediatric cardiac arrests. It is not entirely clear why. However, there is speculation that this is the most common rhythm as a result of respiratory causes being the most common cause of paediatric arrest, with hypoxia causing profound bradycardia and asystole in severe cases

362
Q

How does Hypotestosteronism present?

A

Symptoms include:

lethargy
weakness
weight gain
loss of libido
erectile dysfunction
gynaecomastia
depression

It is also associated with infertility and osteoporosis.