Paediatrics Flashcards
Give 7 signs of respiratory distress
Increased work of breathing
Tachypnea (>60/min)
Nasal flaring
Intercostal recessions
Tracheal tug
Cyanosis (Central>peripheral)
Grunting
Name 4 causative pathogens for viral induced wheeze
Respiratory syncytial virus (RSV)
Rhinovirus (HRV)
Human metapneumovirus (hMPV)
Influenza
What virus is responsible for the common cold?
Rhinovirus (HRV)
(Small-sized positive strand RNA virus)
Atopy is related to a deficiency in what cytokine?
Interferon B
What is the treatment for an acute episode of viral induced wheeze (mild-moderate)
Oxygen
Bronchodilator; Salbutamol +/- Spacer
What treatment should be considered in an asthmatic experiencing an episode of viral induced wheeze
Oral Prednisolone (inhaled steroid)
What treatment is considered for patients experiencing severe, recurrent attacks of wheezing (viral induced wheeze) (2 options)
Low dose inhaled corticosteroid
or
Leukotriene receptor antagonist-montelukast
What is the 1st and 2nd line treatment for bacterial infection causing wheeze?
1st line - Amoxicillin
2nd Line - Doxycycline (if amoxicillin isn’t tolerated/is contraindicated)
List indications for seeking medical attention in an episode of viral induced wheeze (8 options)
If child requires salbutamol inhaler >2 times/week
Night time coughing
Increased breathing rate
Episodes of apnea
Signs of increased breathing effort
Reduced feeding (<50% normal feeds) /features of dehydration (dry mouth/infrequent passage of urine)
Becomes less responsive
Persistent/worsening fever
Give 3 pieces of self care advice for patients with viral induced wheeze
Paracetamol +/- Ibuprofen for fever
Regular fluids
If wheeze returns, start regular salbutamol via spacer and refer to viral wheeze action plan
List 5 DDx for viral induced wheeze
Asthma
Bronchiolitis
Inhaled foreign body
Cystic fibrosis
Gastro-oesophageal reflux
What treatment should be given for the acute episode of viral induced wheeze? (severe-life threatening)
Oxygen
Bronchodilator; Salbutamol +/- spacer
Ipratropium bromide
Oral Steroids; Prednisolone (1mg/kg)
Define episodic viral wheeze
Wheezing that occurs during discrete time periods, often in association with clinical evidence of a viral upper respiratory infection, with the absence of wheeze between episodes.
Define multi-trigger wheeze
Describes discrete exacerbations of wheezing but there are also symptoms between episodes, e.g in response to allergens, emotions or activity.
List 5 risk factors for viral induced wheeze
Prematurity
Exposure to smoking
Bronchiolitis
Increased exposure to viruses (when younger)
Smaller airway anatomy (Poiseuille’s law)
What tool is used to predict asthma in children? (List the major and minor predictive factors)
Asthma Predictive Index (API)
One major decisive factors;
- Parents with asthma
- Physician diagnosis of eczema
- Sensitivities to air allergens (positive RASTS or Skin-prick tests)
Or
Two minor decisive factors;
- Food allergies
- More than 4% blood eosinophils
- Wheezing apart from colds
What pattern of inheritance is seen in Cystic Fibrosis?
Autosomal Recessive Disorder
Cystic fibrosis occurs secondary to a defect in which gene and protein channel?
CFTR gene and cAMP regulated chloride channel
Describe the pathophysiology of cystic fibrosis
CFTR Gene Defect > Defective ion transport > Airway surface liquid depletion > Defective mucocilary clearance > mucus obstruction.
Mucus obstruction increases propensity to infection and inflammation in positive feedback loop.
Where is the genetic defect in cystic fibrosis?
Delta F508 on the long arm of chromosome 7
Name 3 organisms that commonly colonise cystic fibrosis patients
Staphylococcus aureus
Pseudomonas aeruginosa
Aspergillus
What is a feature is suggestive of cystic fibrosis in neonates (1)
Failure to pass meconium (meconium ileus)
Occurs due to thickening of meconium.
List features of cystic fibrosis in children (6)
Failure to thrive, short stature, delayed puberty
Big appetite
Malabrospiton +/- steatorrhoea
Chronic Wet/Productive Cough
Recurrent lower airway infections
Chronic sinusitis +/- nasal polyps
List some complications of cystic fibrosis (5)
Nasal polyps
Male infertility
Diabetes mellitus
Rectal prolapse (in children)
Pseudo Bartter syndrome
What is pseudo-Bartter syndrome? (cystic fibrosis complication)
Hypochoremic metabolic alkalosis with hypokalaema, in the absence of renal tubular pathology, mostly occuring in neonatal period.
Patients have high levels of choride and potassium in their sweat.
What 5 conditions does the heel prick test test for?
Cystic Fibrosis
Sickle Cell
SCID (Severe Combined Immunodeficiency)
Congenital hypothyroidism
Inherited metabolic diseases
Which organs are most affected in cystic fibrosis? (3)
Respiratory system
Pancreas
Intestine (bulky stools > intestinal blockage)
What investigation (and results) which may be suggestive of cystic fibrosis in children?
Sweat test - Sweat Chloride >60mmol/L
What additional tests would you order in Cystic Fibrosis? (3)
Lung Function test (FEV1, FVC, FEF)
Sputum sample (resp infections)
Oxygen saturations
What is acute epiglottitis and what anatomical location does it effect?
A cellulitis (deep skin infection) of the supraglottis
What pathogen commonly causes acute epiglottitis?
Haemophillus Influenzae Type B (Hib)
What is the median age of presentation for acute epiglottitis?
Between 6-12 years old
Name 4 red flag symptoms of acute epiglottitis (4 Ds)
Drooling (due to inability and pain on swallowing)
Dyspnea
Dysphonia (hoarsness of voice)
Dysphagia (difficulty swallowing)
What investigation is diagnostic for acute epiglottitis?
Direct visualisation via fibre optic laryngoscopy (showing inflamed epiglottis)
List diagnostic features of acute epiglottitis (7)
Rapid onset
High fever
Sore throat +/- anterior neck tenderness
Drooling
Classic Tripod Positioning
Cervical lymphadenopathy
Stridor (emergency)
What clinical feature of acute epiglottitis would be seen as an emergency?
Stridor.
Suggests upper airway obstruction
What clinical feature is more commonly seen in croup than acute epiglottitis?
Cough
Describe the acute management of acute epiglotitis.
Secure airway - Lie patient un upright position > avoids aggrevating any airway obstruction.
IV antibiotics (Cefotaxime/Ceftriaxone)
Adjuncts; Oxygen + Dexamethasone
Once stable, what oral antibiotic is given to patients with acute epiglotitis?
Amoxicillin
What IV antibiotics are given to a patient with acute epiglottitis?
Cefotaxime/Ceftriaxone
Name 4 complications of acute epiglottitis
Abscess formation
Meningitis
Sepsis
Pneumothorax
Name 2 risk factors for acute epiglottitis
Non vaccination with Hib vaccine.
Immunocompromise
What virus is associated with Ramsey Hunt Syndrome? (Shingles rash affecting facial nerve) (results in facial paralysis, hearing loss and rash)
Varicella Zoster Virus
What virus causes glandular fever?
Epstein Barr Virus (EBV)
What virus causes hand, foot and mouth disease in Children?
Coxsackie A virus
What immunoglobulin and cytokine (IL) are involved in atopy (rhinitis/eczema ect)?
IgE and IL-4
When should a child receive their MMR Jabs? (2 doses)
1st dose at 1 years old
2nd dose at 3 years and 4 months old
What kind of virus is measles?
Single stranded RNA virus
What is the incubation period for Measles?
2 weeks
What are the 2 phases of Measles and what are their symptoms?
Catarrhal phase
- Fever, Coryza, Conjunctivitis, Cough
- Koplik spots (white spots on buccal mucosa)
Exanthem phase (rash)
- Erythematous maculopapular blanching rash (starts @ head and progresses to trunk/legs over a few days)
- Generalised lymphadenopathy
What are the 3Cs and 1K for Measles symptoms?
Coryza, Cough, Conjunctivitis.
Koplik Spots
What diagnostic test is used to diagnose Measles?
Measles specific IgM and IgG serology (ELISA)
What does the presence of IgM and IgG antibodies indicate in Measles?
IgM indicates acute infection and tends to appear at onset of the exanthem stage.
IgG indicates past infection or prior vaccination.
IgG is not diagnostic but does support a +ve IgM result
How is measles managed in children? (2)
Supportive treatment - Paracetamol and Ibuprofen
Vitamin A supplementation
Give 4 possible complications of measles.
Which is the most common and what is the most common cause of death?
Pneumonia (most common cause of death)
Otitis media (most common)
Encephalitis
Subacute sclerosing panencephalitis (SSPE)
How long after measles infection does Subacute Sclerosing Panencephalitis tend to present?
7 - 10 years after
What is Subacute Sclerosing Panencephalitis?
A generalised, demyelinating inflammation of the brain caused by persistent measles virus infection.
Describe the 4 stages of Subacute Sclerosing Panencephalitis
Stage 1 - Dementia and Personality Changes
Stage 2 - Epilepsy and Myoclonus
Stage 3 - Spasticity and Extrapyramidal symptoms
Stage 4 - Vegetative state and autonomic failure
What diagnostic investigation would suggest Subacute Sclerosing Panencphalitis?
CSF fluid showing elevated anti-measles IgG
If a child is not immunized against measles and they come into contact with someone with measles, how should this be managed?
Offer MMR vaccine.
Vaccine induced measles antibodies develop more rapidly than the natural infection.
Who should be notified if a patient has measles?
Public Health England
What kind of virus is mumps?
RNA paramyxovirus
During which seasons does mumps tend to present?
Winter and Spring
How does Mumps typically manifest?
Parotitis (swelling and inflammation of the parotid glands)
What is the incubation period for mumps?
14-21 days
Describe the pattern of infectivity for mumps
Patients are infective 7 days before and 9 days after parotid swelling starts
Give 3 complications of Mumps.
Which is the most common?
Orchiditis (most common)
Aseptic meningitis
Hearing loss (less common since MMR vaccine)
How is mumps managed?
Self limiting disease
Supportive treatment - Paracetamol for high fever
Notifiable Disease - Inform public health England
What kind of virus is Rubella?
Positive sense, single stranded RNA virus
What classic triad of symptoms is seen in congenital rubella syndrome?
Sensorineural hearing loss
Cataracts
Cardiac defects (i.e patent ductus arteriosus)
Describe 4 clinical features of rubella
Maculopapular rash (begins in head and progresses to trunk/legs)
Arthralgia
General malaise, conjunctivitis and coryza
Lymphadenopathy
Rubella is generally a clinical diagnosis but what group of patients require a diagnostic investigation? and why?
Pregnant women require serology to confirm diagnosis (detection of IgM antibodies)
Due to potential to develop congenital rubella syndrome
Describe the management of rubella in pregnant and non-pregnant patients.
Pregnant
- Specialist referral
- IM immunoglobulin
Non-pregnant
- Supportive care
- NSAIDs for arthralgia
- Antihistamines for pruritis
Why shouldn’t you give NSAIDs in chickenpox/shingles?
Can cause pneumonitis
During which trimester is it most dangerous for a pregnant woman to contract rubella? And why?
1st trimester as this is the period of organogenesis
What is a classic triad of symptoms for Congenital Rubella Syndrome? (CCC)
Cardiac defects (most common - PDA, Pulmonary artery stenosis)
Cataracts
Cochlear defects (bilateral sensorineural hearing loss)
What diseases does the 6 in 1 vaccine protect against?
Diphtheria
Tetanus
Pertussis (whooping cough)
Polio
Haemophalus influenzae b (Hib)
Hepatitis B
At what ages do children receive the 6 in 1 vaccine? (3 doses)
2 months, 3 months and 4 months
At what age to boys and girls receive their HPV vaccine?
12-13 years old
What vaccines do children aged 3.5 years receive? (5)
MMR
Diphtheria, tetanus, pertussis, hepatitis B
What pathogen does the fever pain score screen for?
Likely streptococcus infection
What 5 parameters are measured in the fever pain score? (F-PAIN)
Fever in past 24 hours
Pus on tonsils (purulent tonsils)
Attend clinic rapidly (<3 days)
Inflamed tonsils (severely)
No cough or coryza (i.e pharyngeal illness)
What pathogen typically causes Scarlet Fever?
Group A Streptococcus (Streptococcus pyogenes, GAS)
What is the incubation period for Scarlet Fever?
2-4 days
List symptoms for the Initial phase of Scarlet Fever (3)
Acute tonsilitis
- Fever (lasting 24-28 hours)
- Malaise, headache, myalgia
- Sore throat
List symptoms for the Exanthem phase of Scarlet fever (2)
Strawberry Tongue
Scarlet coloured maculopapular rash
- Blanches with pressure
- Has a sandpaper texture
When does the rash tend to appear in Scarlet Fever? And how long does it last?
Typically 12-48 hours after onset of fever.
Lasts for 7 days
List symptoms of the Desquamation phase of Scarlet fever and describe when it occurs.
Occurs 7-10 days after resolution of rash.
Skin desquamation occurs on face, trunk, hands, fingers and toes
What are the 1st, 2nd and 3rd line treatments for Scarlet Fever?
1st line - Phenoxymethylpenicillin (penicillin V)
2nd line - Amoxicillin (if penicillin v cannot be tolerated)
3rd line - Azithromycin (if penicillin allergy)
What antibiotic is given in Scarlet Fever if the patient has a true penicillin allergy?
Azithromycin
Give 4 possible complications of penicillin use.
Hypersensitivity reactions
Haemolytic anaemia (positive Coombs test)
Drug induced interstitial nephritis
Seizures
What kind of antibiotic is Penicillin?
Beta Lactam Antibiotic
What kind of antibiotic is Azithromycin?
Macrolides
In which patients is Azithromycin and Clarithromycin contraindicated?
Hepatic failure
Give 3 possible side effects of azithromycin
GI Upset
QT Prolongation
Hypertrophic Pyloric Stenosis (in infants up to 6 weeks)
Give 1 complication of Scarlet fever and describe it’s how and when it may present.
Poststreptococcal glomerulonephritis
May present 1-6 weeks following streptococcal infection
Presents with;
Haematuria
Hypertension
Oedema (facial)
Chicken pox is a risk factor for invasive group A streptococcal soft tissue infections, such as necrotising fasciitis, how may this present?
Presence of a skin wound
May be warm, oedematous and purple
Skin may be peeling with white discharge
Give 3 risk factors that would make a person high risk of invasive Group A Streptococcal infection and complications (i.e necrotising fasciitis).
Concurrent chickenpox or influenza
Immunocompromised
Comorbidities such as skin breakdown, diabetes or underlying malignancy
What virus is responsible for Erythema infectiosum (slapped cheek syndrome)
Parvovirus B19
What complication can Parvovirus B19 cause in adults?
Acute arthritis
What complication can Parvovirus B19 cause in Pregnant women?
Hydrops fetalis
What is PEFR
Peak Expiratory Flow Rate
What is the PEFR in moderate Viral Induced Wheeze?
At least 50%
What is the PEFR in acute severe Viral Induced Wheeze?
<50%
What is the PEFR in severe Viral Induced Wheeze?
<33%
What pathogen most commonly causes bronchiolitis?
RSV (respiratory syncytial virus)
What is the most common lower respiratory infection in children <1 years old?
Bronchiolitis
Give 4 risk factors for bronchiolitis
Social deprivation
Winter months
Prematurity or bronchopulmonary dysplasia
Smoking and air pollution
Give 4 symptoms of bronchiolitis
Symptoms are generally mild
Corysal symptoms (mild fever, runny nose, sneezing)
Cough
Tachypnea
Wheeze`
Give 6 red flag symptoms of bronchiolitis that require hospital admission
Poor feeding
Breathing difficulties (RR>70)
Features of respiratory dirsress
Apnea
Central cyanosis
Persistent O2 sats <92% when breathing air
Give 3 symptoms that would make you ‘consider’ referring a child with bronchiolitis to hospital
Respiratory rate >60
Difficulty breast feeding or inadequate oral fluid intake (50-75% of usual volume)
Clinical dehydration
How is bronchiolitis diagnosed?
Patient must have coryzal symptoms lasting 1-3 days followed by;
Persistent cough AND
either, tachypnea or chest recession
and
Either wheeze or crackles (heard on auscultation)
Give 1 common complicatin of bronchiolitis. How may it present?
Hyponatremia
May present with;
Tachypnoea, tachycardia and seizures
Give 4 differentials for bronchiolitis
Pneumonia (consider if high fever + focal crackles)
Viral induced wheeze or early onset asthma (consider in older infants)
Cystic fibrosis
Croup (inspiratory stridor, hoarse cry, barking cough)
How is bronchiolitis managed?
Largely supportive;
Chest physiotherapy
Oxygen supplementation
CPAP
Upper airway suction (if apnea or respiratory distress_
What is the most common cause of Croup?
Parainfluenza virus type 1 or type 3
Give 5 classic symptoms of Croup
Sudden onset
Seal-like barking cough
Inspiratory stridor
Voice hoarseness
Respiratory distress (more severe cases)
What can cause symptoms of Croup to increase?
Agitation
Describe mild croup (3)
Seal like braking
No stridor or sternal/intercostal recessions at rest
Symptoms resolve in 48 hours
Describe moderate croup (4)
Seal like braking
Stridor AND sternal/intercostal recessions at rest.
Little or no agitation or lethargy
Requires hospital admission
Describe severe croup (4)
Seal like braking
Stridor AND sternal/intercostal recessions
Associated with agitation/lethargy
Requires hospital asmission
What ages does croup typically present?
Between 6 months and 3 years old
What season is croup most common?
Autumn (September to December)
Give 3 differentials for croup
Bacterial tracheitis
Epiglottitis
Foreign body in upper airway
What is the 1st line treatment for Croup? What is the 2nd line if the child is too unwell for the 1st? (non-emergency)
1st line - Oral Dexamethasone
2nd line - Inhaled budenoside or IM dexamethasone
What is the emergency management of croup? (3)
Nebulised adrenaline (epinephrine)
Corticosteroids (dexamethasone oral or IM/budenoside)
Supplemental oxygen
What is the 1st line antibiotic for pneumonia in a child >1 with non-severe symptoms? (plus penicillin allergy?)
Amoxicillin
Penicillin allergy - Clarithromycin
What is the 1st line antibiotic for pneumonia in a child >1 with severe symptoms?
Co-amoxiclav
Describe 4 severe symptoms of pneumonia in children
Difficulty breathing
O2 sats <90%
Signs of respiratory distress
Poor feeding
What type of hypersensitivity reaction is Asthma and what antibody is it mediated by?
Type 1 hypersensitivity reaction.
IgE mediated
What are the 2 types of asthma?
Allergic/Eosinophilic - Atopy (IgE mediated)
Non-allergic/Non-eosinophilic (associated with environmental factors., i.e smoking, cold, pollution ect)
What is the primary diagnostic test for asthma and what result would you expect?
Spirometry
FEV1/FVC <80% predicted
What test should be performed on all patients presenting with an acute asthma attack and why?
Peak Expiratory Flow Rate (PEFR)
Measures airflow obstruction so can indicate severity.
Describe the drug ladder for Asthma (7)
- SABA
- Low Dose ICS (beclometasone) + SABA
- LTRA (montelukast) + SABA
- LABA (salmeterol) +SABA
- Combined ICS and LABA in single inhaler (MART)
- Combined ICS and LABA in single inhaler (increase dose of ICS)
- Consider adding oral theophyline or oral beta agonist
What is the criteria for moderate asthma? (1)
PEFR 50-75%
What is the criteria for severe asthma? (4)
PEFR 33-50%
RR >25
HR >110
Can’t complete sentences in one breath
What is the criteria for life threatening asthma? (7)
Any one of CHEST.
PEFR <33%
Sp02 <92%
Cyanosed
Hypotension
Exhaustion, confusion
Silent chest
Tachy/brady/arrhythmas
What is the 1st line treatment for acute severe asthma?
Oxygen + SABA + Prednisolone (or IV hydrocortisone)
Switch SABA to ipratropium bromide if poor response.
Quadruple prednisolone dose and give for 14 days
What is the 1st line for acute life threatening asthma?
Oxygen + SABA/Ipratropium bromide + Prednisolone (or IV hydrocortisone)
Once stable, what should patients whom have experienced acute asthma be prescribed to prevent future relapses?
Oral prednisolone
Define Kawasaki Disease
An acute, febrile (feverish), systemic vasculitis of unknown origin
What complication is common in Kawasaki disease?
Coronary artery aneurysms
Give 5 symptoms of Kawasaki Disease (CRASH)
C - Conjunctivitis
R - Rash (blanching maculopapular)
A - Adenopathy
S - Strawberry tongue
H - Hand and Feet changes (desquamation)
What is the main difference in symptoms between Scarlet fever and Kawasaki Disease?
Scarlet fever - Fever <5 days
Kawasaki disease - Fever >5 days
What is an important diagnostic test for patients with Kawasaki Disease?
Echocardiogram - To screen for coronary artery aneurysms
What are the 1st and 2nd line treatments for Kawasaki Disease?
1st line - IV immunoglobulins (IVIG) + High dose aspirin
2nd line - Corticosteroids - Methylprednisolone/prednisolone
What risk does aspirin use bring in children?
Developing Reye’s syndrome
What is Reye Syndrome?
Describes a rare type of hepatic encephalopathy associated with aspirin use in children
Give 2 clinical features of Reye syndrome
Preceeding viral infection
- Symptoms begin 3-5 days after viral illness
Acute encephalopathy
- Severe vomiting
- Altered mental status
- Neuro symptoms - Seizures, fixed pupils
-
What investigation results would you see in Reye’s syndrome? (4)
LFTs - Raised AST/ALT
Hyperammonemia
Hypoglycemia
Metabolic acidosis
Define Juvenile Idiopathic Arthritis
A collection of chronic paediatric inflammatory diseases characterised by onset before 16 years old and the presence of arthritis for at least 6 weeks.
Name 6 types of JIA. Which is the most common?
Oligoarticular JIA (Most common)
Seronegative polyarticular
Seropositive polyarticular
Systemic JIA
Psoriatic JIA
Enthesitis-related JIA
Define oligoarticular JIA
Describes paediatric arthritis involving up to 4 joints within 6 months of disease onset.
Give 2 clinical features of oligoarticular JIA
Asymmetrical pattern (most commonly affecting weight bearing joints - Knee and Ankle)
Extra-articular manifestations - Chronic anterior uveitis (bilateral is common)
Give 3 investigation results you’d expect to see in a patient with oligoarticular JIA
Positive ANA (70%)
Negative RF
Raised ESR
Give 4 risk factors for JIA
Female sex
HLA polymorphism
Age under 6
Family history of autoimmunity
What is the 1st and 2nd line (and adjuncts) treatments for oligoarticular JIA
1st line - Intra-articular corticosteroid (Triamcinolone or Methylprednisolone acetate)
2nd line - TNF alpha inhibitors (Adalimumab or Etanercept)
Adjuncts; NSAIDs, Methotrexate
When should TNF-alpha (2nd line) inhibitors be considered in patients wit oligoarticular JIA?
When disease activity is moderate/high and there are poor prognostic features after 3 months of treatment with methotrexate and intra-articular corticosteroids
Give 2 contraindications for Adalimumab (TNF-a inhibitor)
Demyelinating diseases
Hepatitis B
What factor is positively present in seropositive polyarticular arthritis and not in seronegative?
RF factor
Give 2 clinical features of seronegative polyarticular arthritis. (mention which joints are commonly affected)
Symmetrical or asymmetrical pattern of joint involvement. (Most commonly affects with cervical spine and temporomandibular joints)
Chronic anterior uveitis
What investigation results would you expect in seronegative polyarticular arthritis?
Positive ANA (30%)
Negative RF
Raised ESR
Define polyarticular arthritis
Describes arthritis involving >5 joints within 6 months of disease onset
What pattern of incidence is displayed in seronegative polyarticular arthritis?
Bimodal incidence.
Presents between 1-4 years old and 6-12 years old.
Give 2 clinical features of seropositive polyarticular arthritis
Symmetrical pattern of joint involvement
Rheumatoid nodules
(present on extensor surface of elbows and Achilles tendon (30% of cases))
What are the 1st and 2nd line treatments for polyarticular JIA?
1st line - DMARD - Methotrexate
2nd line - Lefunomide/Sulfasalazine
What are the 1st and 2nd line adjuncts for polyarticular JIA?
1st line adjunct - TNF-a inhibitor (adalimumab)
2nd line adjunct - IL-6 inhibitor (tocilizumab)
What kind of drug is tocilizumab?
IL-6 inhibitor
What kind of drug is adalimumab?
TNF-a inhibitor
What should be given in conjunction with methotrexate? and why?
Folic acid. To decrease side effects (Anaemia)
What type of anaemia occurs with methotrexate treatment?
Megaloblastic anaemia (due to folic acid deficiency)
What 3 tests should be conducted before starting methotrexate? And when should the be repeated?
FBC, Creatinine and LFTs
Repeat every 3-4 months during treatment
What should patients be screened for before starting methotrexate?
Hepatitis B and C
Give 1 serious side effect of tocilizumab (IL-6 inhibitor) and suggest 2 tests to monitor this.
Hepatotoxicity
Monitor ALT and AST every 4-8 weeks during 1st month of treatment.
Define Systemic JIA (Still Disease(
Describes arthritis involving >1 joint AND intermittent fever that lasts for at least 2 weeks with fever spikes occulting on at least 3 consecutive days AND >1 extra-articular manifestation.
Give 4 extra-articular manifestations seen in Systemic JIA (Still Disease)
Salmon pint macular rash (non-pruritic)
Generalised lymphadenopathy
Spleno/Hepatomegaly
Serositis (peritonitis, pleuritis and/or pericarditis)
What is Koebner’s phenomenon? (systemic JIA)
Phenomenon whereby salmon pink rash can be elicited by scratching the skin
Give 3 laboratory findings you’d expect to see in systemic JIA
Raised ESR (chronic) and CRP (acute)
Anaemia, Leukocytosis and Thrombocytosis
RF negative
What is the 1st and 2nd line treatment for Systemic JIA?
1st line Oral/IV corticosteroid - Methylprednisolone or Prednisolone
2nd line - Tocilizumab (IL-6 inhibitor), Canakinumab or Anakinra (IL-1 inhibitor)
What kind of drug is Anakinra?
IL-1 inhibitor
What kind of drug is Canakinumab?
IL-1b monoclonal antibody
Define psoriatic arhritis
Describes either;
Arthritis + Psoriasis
OR
Arthritis and >=2 of the following;
- Dactylitis
- Nail changes (pitted nails, onycholysis)
- 1st degree relative with psoriasis
Describe 2 clinical features of psoriatic JIA
Asymmetrical pattern of joint involvement
Extra-articular manifestations;
- Chronic anterior uveitis
- Nail changes
- Psoriatic skin lesions
Give 3 investigation findings you’d expect in a patient with psoriatic JIA
ANA positive (50%)
HLA-B27 may be positive
RF negative
Describe the management of psoriatic JIA
NSAIDs and Intra-articular steroid injections (Triamcinolone or Methylprednisolone acetate)
What is enthesitis?
Inflammation of the enthesis (the site where Ligaments and Tendons attach to Bone)
Define Enthesitis related JIA
Arthritis with Enthesitis
Give 2 clinical features of Enthesitis related JIA
Asymmetrical pattern of join involvement. (may have sacroiliac tenderness and/or inflammatory lumbosacral pain)
Extra-articular mainfestations;
- Acute anterior uveitis
- IBS
- May progress to Ankylosing Spondylitis
Give 2 investigation findings you may see in a patient with Enthesitis related JIA
HLA-B27 positive (80%)
RF negative
Give 5 differentials for JIA
Septic arthritis (fever + malaise)
Perthes disease (hip w/ limp)
Malignancy (leukaemia/lymphomas - may present with swelling)
Non-accidental injury
Reactive arthritis (2nd to viral throat infection - 2 weeks after infection)
What is Macrophage Activation Syndrome (MAS)? How is it characterised?
Rare complication of Systemic JIA
Characterised by;
Thrombocytopenia
Elevated transaminases
Low fibrinogen
Increased ferritin
What is the treatment for macrophage activation syndrome?
IV prednisolone +/- cyclosporine
Define Perthes’ disease. Between what ages does it typically manifest?
Describes an idiopathic avascular necrosis of the femoral head.
Manifests between the ages of 4-10.
What type of gait is seen in Perthes disease?
Antalgic gait (on weight bearing leg)
Give 3 clinical features of Perthes’ disease
Antalgic gait (on weight bearing leg)
Hip pain projecting to knee (exacerbated by internal rotation)
Restricted range of movement (especially regarding internal rotation and abdunctio)
What may an X-ray show in a patient with Perthes’ disease? (2)
Widening joint space (early)
Decreased femoral head size/flattening (later)
Give 2 complications of Perthes’ disease
Osteoarthritis
Premature fusion of growth plates
What is the management of Perthes’ disease in a child <6 years old
Conservative management (monitor)
What is the management of Perthes’ disease in a child >6 years old
Femoral osteotomy
Give 3 risk factors for Perthes’ disease
Male sex
Hyperactivity
Hyper-coagulable states (Excess factor VII, Factor V Leiden, Protein S deficiency)
What does developmental dysplasia of the hip refer to?
DDH refers to;
Hip instability
Subluxation/dislocation of the femoral head
and/or
Acetabular dysplasia in the developing hip joint.
Give 3 examination findings you’d likely see in a patient with DDH
Positive Barlow test (hip adduction)
Positive Ortolani test (Hip Abduction)
Limited hip abduction
What are the 4 main risk factors for DDH?
Female sex
Breech presentation at birth
Positive family history
Oligohydramnios (too little amniotic fluid)
What does a positive Barlow test show?
Positive shows reduced hip is subluxatable or dislocatable
What does a positive Ortolani test show?
Positive shows that the dislocated hip is reducible
What clinical features would an infant <6 months with DDH have? (2)
Asymptomatic
Positive Barlow and Ortolani Signs
What clinical features would an infant 6-18 months with DDH have? (3)
Inability to abduct hip
Prominent Galeazzi sign (unequal knee height when lying supine)
Asymmetrical gluteal folds
What clinical features would an infant >18 months with DDH have? (4)
Hip pain
Hip deformity (coxa vara - decreased femoral angle)
Waddling or Trendelenburg gait
Leg Length Discrepency
Give 3 criteria that warrant screening for DDH
1st degree relative with DDH/early life hip problems
Breech presentation at or after 36 weeks
Multiple pregnancy
What is the 1st line investigation for DDH in infants <4.5 months
Ultrasound at 6 weeks
What is the 1st line investigation for DDH in infants >4.5 months?
X-ray
What are the 1st and 2nd line treatments for an infant <6 months with DDH?
1st line - Observation
2nd line - Hip abduction orthosis (splint) and further evaluation at 6 months
What are the 1st and 2nd line treatments for infants with DDH aged between 6-18 months?
1st line - Closed reduction with spica casting
2nd line - Open reduction with spica casting
Give 6 red flag features of clinical dehydration in a child <5
Appears to be unwell or deteriorating
Altered responsiveness (irritable, lethargic)
Sunken eyes
Tachycardia
Tachypnoea
Reduced skin tugor
Give 5 symptoms that suggest hypernatraemic dehydration in a child <5
Jittery movements
Increased muscle tone
Hyperreflexia
Convulsions
Drowsiness or Coma
When is screening for Down’s, Pagets and Edwards syndrome conducted?
Between 10-14 weeks pregnancy
Which chromosome is tripled in Down’s Syndrome?
Chromosome 21 (Trisomy 21)
Give 6 appearance characteristics for an individual with Down’s syndrome
Upward slanting eyelids (palpebral fissures)
Epicanthal folds (eyes)
Low set ears
Protruding tongue
Short stature
Transverse palmar crease
What is the most common heart defect in Down’s Syndrome? Describe its pathophysiology and what can result from it.
Atrioventricular Septal Defect (left to right shunt)
Results in excessive pulmonary blood flow and biventricular volume overload leading to pulmonary hypertension and heart failure
What type of shunt occurs in a Atrioventricular Septal Defect?
Left to Right Shunt
What GI defects may occur in Down’s Syndrome? (2)
Duodenal atresia/stenosis
Hirschprung disease
What urogenital defects may occur in Down’s Syndrome? (2)
Hypogonadism
Decreased fertility (men)
What cancer are people with Down’s syndrome more susceptible to?
Acute Lymphoblastic Leukaemia
Give 6 complications of Down’s Syndrome
Hypothyroidism
Type 1 diabetes
Obstructive sleep apnea (snoring)
Hearing loss (due to otitis media)
Early onset Alzheimer’s Disease
Learning Difficulties
Why does Down’s syndrome increase susceptibility to Alzheimer’s disease?
The gene encoding amyloid precursor protein (generates amyloid beta) is located on Chromosome 21. (overexpressed)
When does Hirschprung’s Disease typically present?
1st year of life
Give 4 features of Hirschprung’s disease
Vomiting
Abdominal Distension
Enterocolitis
Constipation
How is Hirschprung’s disease diagnosed? What will the test show?
Rectal biopsy showing absence of ganglion cells
Describe the pathophysiology of Hirschprung’s disease
Absence of ganglion cells (aganglionosis) results in the lumen of the distal colon being tonically contracted, causing a functional obstruction.
How does duodenal atrasia/stenosis (down’s syndrome) present intrauterine (1) and post-partum (3)?
Intrauterine - Polyhydramnios
Post-partum - Vomiting, Upper abdomen distension and delayed meconium passage
What diagnostic test is used to diagnose duodenal atrasia/stenosis prenatally? What will it show?
Ultrasound. Shows Double Bubble Sign
What diagnostic test is used to diagnose duodenal atrasia/stenosis postnatally? What will it show?
Abdominal X-ray. Shows Gasless distal bowel and Double Bubble Sign
Give 2 drugs that are contraindicated in Down’s Syndrome. Suggest why.
Carbamazepine and Phenytoin
Carbamazepine can exacerbate hypothyroidism
How may otitis media present in Down’s Syndrome? (3)
Otalgia (ear pain)
Bulging tympanic membrane
Myringitis (erythema of tympanic membrane)
When is the quadruple test conducted to screen for Down’s Syndrome?
15-18 weeks
What quadruple test findings would suggest Down’s Syndrome? (4)
Decreased free Estriol
Decreased Alpha Fetoprotein (AFP)
Increased Inhibin A
Increased B-hCG
(B-hCG and Inhibin A are HIgh up while Estriol and alpha- fEtoprotein are dEficient)
Patau’s Syndrome describes an abnormality in which chromosome?
Chromosome 13 (Trisomy 13)
Give 4 clinical features of Patau’s Syndrome
Microcephaly/Holoprosencephaly
Small eyes
Polydactyly (presence of >5 fingers/toes)
Rocker bottom feet (Convex deformity of plantar aspect of foot - vertically positioned talus and prominent heel)
Give 2 complications of Patau’s syndrome
Cardiac defects - Ventricular Septal Defect and Patent Ductus Arteriosus
Polycystic Kidney Disease
Edward’s Syndrome describes an abnormality in which chromosome?
Chromosome 18 (trisomy 18)
Give 4 clinical characteristics of Edward’s Syndrome
Micrognathia (congenital mandibular hypoplasia - undersized jaw)
Low-set ears
Overlapping fingers/clenched fists
Rocker-bottom feet
What results are seen in a Quadruple test positive for Edward’s Syndrome?
Decreased Estriol
Decreased AFP
Decreased B-HCG
Normal/Decreased Inhibin A
What is the most significant risk factor for Downs, Patau’s and Edwards syndrome?
Increased maternal age
What is the pattern of inheritance in Fragile X syndrome?
X-linked dominant
What mutation is seen in what gene in Fragile X syndrome?
CGG trinucleotide repeat in FMR1 gene (during oogenesis)
Fragile X syndrome affects which sex more? And why?
Males. Because it is X-linked dominant (males only inherit 1 x chromosome)
The severity of Fragile X syndrome features depends on what variable?
The number of CGG trinucleotide repeats
Give 6 clinical features of Fragile X Syndrome
Male
Intellectual disability (+/- autism/hyperactivity)
Microcephaly
Large ears, testes (macro-orchidism) and face
Mitral valve prolapse > mitral regurgitation
Hypermobile joints
Fragile X syndrome patients are susceptible to mitral valve prolapse, leading to mitral regurgitation. How may this sound on auscultation?
Soft, Decrescendo Pan Systolic murmur (radiates to axilla)
Prader Willi And Angelman Syndrome occur due to what genetic abnormalities?
“Prader misses his Papa” “Angel misses her Mother”
Prader Willi Syndrome occurs due to mutation/deletion of Paternal gene copy and maternal gene methylation.
Angelman syndrome occurs due to mutation/deletion in Maternal gene copy with paternal gene methylation.
Give 5 clinical features of of Prader Willi Syndrome
Muscular Hypotonia and poor feeding during infancy
Hyperphagia + Childhood obesity
Developmental delay/short stature
Hypogonadism and infertility
Behavioural problems - OCD, temper ect
Give 3 complications of Prader Willi Syndrome
Sleep apnea (most common)
Type 2 diabetes
Obesity
Give 5 clinical features of Angelman Syndrome
Epileptic Seizures
Easily excitable (may show inappropriate laughter)
Ataxia
Intellectual disability
Fascination with Water
Describe William’s Syndrome
William’s Syndrome is a multisystem developmental disorder caused by a deletion in chromosome 7
William’s Syndrome is caused by a deletion in which chromosome?
Chromosome 7
Give 5 clinical features of William’s Syndrome
Hypersociability
Learning Difficulties
Cardiac Disease (supravalvular aortic stenosis and renal artery stenosis)
Hypercalcaemia (due to increased sensitivity to vitamin D)
Elfin Facies (elven faces)
How are Prader Willi, Angelman and William’s Syndrome diagnosed?
FISH (fluorescence in-situ hybridisation)
What chromosome is deleted in Prader Willi and Angelman Syndrome
Chromosome 15
What hormone is elevated in Prader Willi Syndrome? What symptom does this lead to?
Ghrelin
Hyperphagia (extreme hunger)
What is nocturnal enuresis?
Bed wetting
What is the 1st line treatment and 2nd line for nocturnal enuresis in children >5?
1st line - Enuresis alarm (sensor pads that sense wetness)
2nd line - Desmopressin (short term control, can be used for sleep overs or if enuresis alarm is ineffective)
What is the 1st line management for nocturnal enuresis in children <5?
Reassurance and lifestyle advice (regular toileting and DONT restrict fluids)
At what age is hearing first formally assessed? What test is used?
Newborn - Otoacoustic emission
What ratio of chest compressions:ventilation is given to children?
15:2
What should you do before chest compressions in paediatric basic life support?
5 rescue breaths
What is the gold standard investigation for stable children with suspected Meckel’s diverticulum?
Technetium scan
What is the 1st line management for Hirschprungs disease? and why?
Rectal washouts/bowel irrigation
To prevent entrocolitis
When is Meningitis B vaccine given (3)?
2 months, 4 months and 12 months
What is the pattern of inheritance for Von Willebrand disease?
Autosomal dominant
Describe the pathophysiology of Von Willebrand disease (3)
Reduction or malfunction in Von Willebrand Factor
Factor usually promotes platelet adhesion to damaged endothelium.
VWF also stabilizes and carries factor VIII
What factor does Von Willebrand Factor stabilize and carry?
Factor VIII
Give 5 symptoms of Von Willebrand Disease
Bleeding from minor wounds
Mucosal bleeding
Excessive post-operative bleeding
Easy/excessive bruising
Epistaxis (nose bleeds)
Give 2 diagnostic tests and results for Von Willebrand Disease
Prolonged Activated Partial Thromboplastin Time (APTT)
Reduced Factor VIII activity
What type of medication should be avoided in Von Willebrand disease?
NSAIDs
Give 2 medications used in the management of Von Willebrand disease
Desmopressin (increases clotting factor VWF and Factor VIII)
Von Willebrand Factor/Factor VIII concentrate (used in surgery for major bleeds)
Von Willebrand Disease is a disease of what process?
Platelet adhesion
Give 1 medication which may exacerbate symptoms of Von Willebrand Disease. Suggest why
Aspirin
As it inhibits platelet function
What clotting factor is deficient in haemophila A
Factor VIII
What clotting factor is deficient in haemophila B
Factor IX
What clotting factor is deficient in haemophila C
Factor XI
In what population is haemophila C more common?
Jewish
What is the pattern of inheritance for Haemophilia A?
X-linked recessive
Give 5 clinical features of Haemophilia A
Male
Spontaneous bleeding or delayed onset bleeding in response to trauma
Bleeding into soft tissues (knee, illiopsoas and neck)
Recurrent bruising or haematoma formaiton
Oral mucosa bleeding, epistaxis or excessive bleeding following minor trauma
Give 3 diagnostic test results that would be seen in Haemophilia A diagnosis (2 normal, 1 prolonged)
Prolonged Activated Partial Thromboplastin Time (aPTT)
Normal platelet count
Normal prothrombin time
Give 3 treatments for haemophilia
Substitution of clotting factors (VII - A, IX - B, XI - C)
Desmopressin (used in mild hemophilia A)
Tranexamic acid (inhibits break down of clots to reduce clotting risk)
What chromosomal abnormality is commonly seen in chronic myeloid leukaemia? (And occasionally Acute Lymphoblastic Leukaemia)
Philadelphia chromosome (t9:22)
BCR-ABL gene fusion
In what chromosome is the Philadelphia Chromosome an abnormality?
Chromosome 22
What is the most common childhood cancer?
Acute Lymphoblastic Leukaemia (ALL)
Describe the pathophysiology of acute lymphoblastic leukaemia (3)
Malignancy of lymphoid cells, affecting B or T lymphocyte lineages.
Describes the arrested maturation and uncontrolled proliferation of immature lymphocyte precursor cells (lymphoblasts/blast cells)
Results in bone marrow failure and tissue infiltration.
Describe the prognosis of ALL in children (relate to chromosomal abnormality) (2)
Philadelphia chromosome (T9:22) - Bad prognosis - Hypodiploidy
T(12:21) - Good prognosis - Hyperdiploidy
Give 2 risk factors for ALL
Ionizing radiation (x-rays) exposure during pregnancy
Downs syndrome (trisomy 21)
Give 7 clinical features of ALL
Sudden onset and rapid progression (days/weeks)
Fever, nightsweats and unexplained weight loss
Marrow failure (anaemia, Infection, Bruising/bleeding)
Painless lymphadenopathy
Bone pain
Hepatosplenomegaly
Meningeal leukemia (headache and cranial nerve palsies)
Give 3 indications of bone marrow failure
Anaemia (low Hb)
Infection (low functioning WC)
Bleeding and bruising (low platelets)
What is tumour lysis syndrome?
Condition triggered by combination chemotherapy.
Occurs when a large number of cancer cells die within a short period, releasing their contents into the blood.
Biochemically, how does tumour lysis syndrome present? (4)
High uric acid (hyperuricemia)
High potassium (hyperkalaemia)
High phosphate (hyperphosphatemia)
Low calcium (hypocalcaemia)
What is used in the treatment of tumour lysis syndorme?
Allopurinol (xanthine oxidate inhibitor - reduced uric acid production)
Rasburicase (recombinant version of urate oxidase - enzyme that metabolise uric acid into allantoin)
What are the 3 types of beta thalassemia?
Minor (trait- carrier)
Intermedia
Major
Give 5 clinical features of beta thalassaeia majora
Children <1
Failure to thrive
Recurrent bacterial infections
Severe anaemia from 3-6 months)
Extramedullary haematopoiesis > hepatosplenomegaly + bone expansion
What sign is seen on skull x-ray of patients with beta thalassemia majora?
Hair on end sign
What type of blood cells would be seen on a blood film in Beta Thalassemia majora?
Large and small irregular hypochromic red blood cell
What is the pattern of inheritance on Sickle Cell anaemia?
Autosomal recessive
What does being heterozygous for sickle cell anaemia protect against?
Falciparum malaria
Describe 1 complication of sickle cell anaemia (3)
Vaso-occlusive crisis
Deformed sickle cells have a strong adherence to the endothelium, leading to vaso-occlusive crisis.
The obstruction of small vessels can lead to tissue infarction and intense pain.
Give 5 triggers for vaso-occlusive crisis in sickle cell anaemia
Hypoxia
Cold weather
Infection
Dehydration
Acidosis
How may vaso-occlusive crisis present in children with sickle cell anaemia?
Dactylitis (inflammation of digits)
What test is used to confirm diagnosis of sickle cell anaemia? What does it help distiunguish?
Hb Electrophoresis
Distinguishes HbSS (homozygotes) and HbAS (heterozygotes) states
What is the 1st line long term management of sickle cell anaemia? How does it work?
Hydroxyurea
Increases HbF levels
What vaccine should sickle cell patients receive every 5 years?
Pneumococcal polysaccharide vaccine
What is the MOA for tranexamic acid
Inhibits the lysing binding sites of plasminogen thus inhibiting the conversion to plasmin
How are chest compressions performed in children >1?
Single hand compressing the lower half of the sternum.
30:2
How are chest compressions performed in children <1?
Two thumb encircling technique
What is the most common cause of gastroenteritis in children?
Rotavirus
What type of virus is rotavirus?
RNA retrovirus
How is rotavirus transmitted?
Faecal-oral route
When is the rotavirus vaccine given? (2)
8 weeks old and 12 weeks old
3 risk factors for viral gastroenteritis
Lack of immunisation against rotavirus
Age <5 years
Exposure to people with gastroenteritis
Give 4 clinical features of gastroenteritis
Vomiting (NICE say usually lasts 1-2 days and stops within 3 days)
Non-bloody diarrhoea (NICE say usually lasts 5-7 days and stops within 2 weeks)
Abdominal pain
Evidence of dehydration
How is gastroenteritis diagnosed
Clinical diagnosis
If a dehydrated child weighs 5kg how is their fluid replacement calculated?
Weight 0-10kg = 100ml/Kg fluids
5kg child receives 500ml/day fluid (maintenance fluid volume)
If a dehydrated child weighs 15kg how is their fluid replacement calculated?
Weight 10-20kg = 1000ml/kg + 50ml/kg for each kg above 10kg per day
15kg child receives 1250ml/day fluid (maintenance fluid volume)
If a dehydrated child weighs 25kg how is their fluid replacement calculated?
Weight >20kg = 1500ml/Kg + 20ml/Kg for each Kg above 20kg per day
25kg child receives 1600ml/day fluid (maintenance fluid volume
How is Low Osmolarity Oral Rehydration Salt given in children based on age? (3)
<5 years old - 50ml/kg over 4 hours + ORS solution for maintenance
Age 5-11 - 200mL ORS after each loose stool
Age 12-16 - 200-400mL ORS solution after loose stool
Give 2 complications of gastroenteritis
Clinical dehydration
Hypernatremia dehydration
Give 6 risk factors making a child increased risk of dehydration
Infants <1 (particularly <6 months)
Low birthweight
Passed >6 stools in last 24 hours
Vomited >3 times in last 24 hours
Stopped breastfeeding
Signs of malnutrition
Give 4 signs of clinical shock in children
Decreased level of consciousness
Pale/mottled skin
Cold extremities
Tachycardia/tachypnea/hypotension
How is appendicitis pain often described?
Presents as umbilical pain that moves to the lower right quadrant
What organ is the appendix connected to?
Caecum (below the ileocecal valve)
What is the main cause of appendicitis?
Luminal obstruction caused by faecolith > infection
Give 5 complications of appendicitis
Abscess formation
Peritonitis
Sepsis
Intra-abdominal adhesions
Bowel obstruction
Give 5 clinical features of appendicitis
Umbilical pain that moves to the lower right quadrant (McBurney’s Point)
Abdominal guarding and rebound tenderness (peritonitis)
Low grade fever, pyrexia and malaise
Nausea and vomiting
Constipations
Name and describe 3 signs seen in appendicitis. Describe
Rovsing’s sign - Pain is greater in RIF when LIF is pressed
Psoas sign - Pain on extending the hip (suggests retrocaecal appendix)
Cope’s sign - Pain on flexion and internal rotation of right hip (indicates pelvic appendicitis)
Coeliac disease is mediated by which cell type?
T cells
Describe the pathophysiology of coeliac disease
Commonly manifests in the duodenum > t-cell mediated response to ingested gluten > villous atrophy and malabsorption
Give 3 risk factors for coeliac disease
HLA-DQ2 and HLA-DQ8
Autoimmune disorders (T1DM, Autoimmune hepatitis, Hashimotos thyroiditis, IgA deficiency)
Herpetiformis (vesicular, pruritic skin eruption)
What are 2 classifications of coeliac disease?
Non responsive coeliac disease
Refractory coeliac disease
Describe non responsive coeliac disease
Persistent symptoms and enteropathy that do not respond after 6-12 months of a gluten free diet
Describe refractor coeliac disease
Persistent or recurrent symptoms and villous atrophy on duodenal biopsy, despite adherence to gluten free diet for at least 12 months
Give 4 clinical features of coeliac disease
Diarrhoea
Steatorrhoea + foul smelling stools
Abdominal pain + distension
Weight loss/Failure to thrive
What test is used to confirm diagnosis of coeliac disease? what will it show? (3)
Small bowel endoscopy and histology
Villous atrophy
Crypt Hyperplasia
Increased Intraepithelial Lymphocytes
Describe coeliac serology (2)
1st line - IgA tissue transglutaminase (IgA-tTG) raised
2nd line - IgA Anti Endomysial antibody (IgA-EMA) raised
In coeliac serology, if both IgA-tTG and IgA-EMA are negative, what test should be performed?
Total IgA (Investigate IgA deficiency)
If IgA deficiency test is positive (coeliac serology) what test should be performed?
IgG DGP (Deamidated gliadin peptide)
What is the 1st line management of coeliac disease?
Long term adherence to gluten free diet
Avoid; Wheat, Barley and Rye.
What 4 functional areas are assessed in a Developmental Examination
Gross Motor
Vision and Fine Motor
Hearing, Speech and Language
Social, Emotional and Behavioural
At what age should a child be able to crawl?
8-9 months
At what age should a child be able to stand independently?
10 months
At what age should a child be able to walk (unsteadily)? (give age limit)
12 months
Age limit:18 months
At what age should a child be able to run and jump?
2.5 years
At what age should a child show a palmar grasp of a pencil?
4-6 months
At what age should a child be able to build a tower of 3, 6, 8 bricks?
3 - 18 months
6 - 2 years
8 - 2.5 years
At what age should a child be able to build a bridge with blocks?
3 years
At what age should a child be able to build a bridge with blocks?
3 years
At what age should a child be able to draw a line, circle, cross, square and triangle?
Line - 2 years
Circle - 3 years
Cross - 3.5 years
Square - 4 years
Triangle - 5 years
At what age should a child have a polysyllabic babble? (babababa,lalalalala)
7 months
At what age should a child be using sounds discriminantly to parents (dada/mama)
10 months
What age should a child be using 2/3 words other than mama/dada?
12 months
At what age should a child be using 6-19 words and be able to show you two body parts?
18 months
At what age should a child be able to play ‘peek a boo’ or wave bye bye
10-12 months
At what age should a child be able to hold a spoon and safely get food to their mouth?
18 months
At what age should a child display symbolic play? (e.g turning a banana into a phone)
18-24 months
At what age should a child be toilet trained (dry by day)?
2 years
What age should a child be able to hop on one leg?
3-4 years
At what age should a child display features of parallel play?
2.5-3 years
What is the most common cause of chronic diarrhoea in children?
Cows milk intolerance
Give 4 classifications of diarrhoea
Secretory (cholera, c.difficile, E.coli)
Osmotic
Motility disorders (increased - thyrotoxicosis, decreased - Intussusception/obstruction)
Inflammatory (bloody diarrhoea - Salmonella, campylobacter, Crohn’s, Coeliac)
Define malnutrition
Malnutrition describes an imbalance in macronutrients (carbohydrates, fats and protein) and/or micronutrients (vitamins and minerals)
How is malnutrition defined by NICE? (3)
BMI <18.5
OR
Unintentional weight loss >10% in last 3-6 months
OR
BMI <20 AND unintentional weight loss >5% in last 3-6 months
Name 2 forms of malnutrition
Kwashiorkor
Marasmus
How is Kwashiorkor malnutrition defined?
Chraracterised by decreased intake of protein and essential aminoacids
Give 3 risk factors for Kwashiorkor malnutrition
Premature cessation of breast feeding
Chronic GI infection
Protein-deficient diet
Give 6 clinical features of Kwashiorkor malnutrition
Muscle atrophy/poor growth
Diarrhoea
Bilateral pitting oedema
Distended bowel
Hepatosplenomegaly
Skin/hair depigmentation
Give 3 investigation results seen in Kwashiorkor malnutrition
Decreased albumin
Decreased glucose
Decreased K, Mg and Hb
How is Kwashiorkor malnutrition managed?
Gradually increasing, high protein diet.
Give 1 possible complication of malnutrition management
Refeeding syndrome
Describe the pathophysiology of refeeding syndrome
Rapid increase in food intake > glycaemia > massive insulin release > increased displacement of Mg, K and PO3 from extracellular to intracellular > reduced serum levels
Give 5 clinical features of refeeding syndrome
Oedema
Tachycardia (torsades de points – ventricular tachycardia)
Seizures
Ataxia
Rhabdomyolysis
How is refeeding syndrome managed?
Electrolyte and vitamin supplementation continued for at least 10 days
Define Marasmus malnutrition
Describes lack of calories and a discrepancy between height and weight
Give 4 clinical features of Marasmus
Profound muscle wasting (atrophy)
Loss of subcutaneous fat
Thin dry skin
No oedema
What disease is associated with marasmus malnutrition?
HIV
What 4 defects are present in tetralogy of Fallot?
Pulmonary stenosis (right ventricular outflow tract obstruction)
Right ventricular hypertrophy
Ventricular Septal Defect
Overriding aorta (aorta is displaced over the VSD(r
Give 4 risk factors for tetralogy of fallot
DiGeorge syndrome (deletion in chromosome 22)
Down’s syndrome (trisomy 21)
Maternal alcohol consumption during pregnancy
Maternal diabetes
Give 4 clinical features of tetralogy of fallot
Cyanosis (due to right > left shunt via VSD)
Intermittent hypercyaniotic, hypoxic episodes (Tet spells - after crying)
Squatting
Harsh ejection systolic murmur (At left upper sternal border)
Why do untreated children with tetralogy of fallot tend to squat?
Squatting increases systemic vascular resistance > decreases right to left shunt > Increases blood flow to pulmonary circulation > decreases hypoxemia and relieves symptoms
What test is used to confirm tetralogy of fallot?
Echocardiography
What are the 1st, 2nd and 3rd line medical therapies for treating acute hypercyanotic episodes in tetralogy of fallot?
1st line - Manoeuvres to increase systemic venous return (arms and knees to chest)
2nd line - Propranolol (beta blocker)
3rd line - Phenylephrine (alpha receptor agonist)
Define cyanotic congenital heart disease
Describes any heard defect that reduces the amount of oxygen delivered to the body.
Typically characterised by a right ot left shunt
Give 5 examples of cyanotic congenital heart diseases
Tetralogy of Fallot
Transposition of great vessels
Tricuspic valve atresia
Ebstein anomaly
Persistent truncus arteriosus (DiGeorge syndrome)
Define acyanotic congenital heart disease
Describes congenital cardiac malformations that affect the atrial or ventricular walls, heart valves or large blood vessels.
Characterised by a left to right shunt
Give 2 clinical features caused by a left to right shunt
Pulmonary hypertension
Right ventricular hypertrophy
Give 5 examples of acyanotic congenital heart defects
Ventricular Septal Defect (VSD)
Atrial Septal Defect (ASD)
Patent foramen ovale (PFO)
Patent ductus arteriosus (PDA)
Coarctation of the aorta
Define transposition of the great vessels
Anatomical reversal of the aorta and pulmonary artery
Give 2 risk factors for Transposition of the Great Arteries
Maternal diabetes (most common)
Di George Syndrome
What can make transposition of the great vessles less fatal?
Mixing of blood occurring via either;
Intracardiac shunt (PFO, VSD, ASD) or
Extracardiac connection (PDA)
Give 3 clinical features of Transposition of the Great Arteries
Postnatal cyanosis
Tachypnoea
‘Egg-on side’ appearance on chest x-ray
What sign is seen on an x-ray in a patient with Transposition of the Great Arteries
Egg-on-side appearance (Enlarged, globular heart resembles an egg lying on its side)
How might you distinguish between Transposition of Great Arteries and Tetralogy of Fallot?
TOGA - Early onset (first few days)
ToF - Later onset (1-2 months)
What medication may be used in the initial management of Transposition of the Great Arteries? And why?
Alprostadil (prostaglandin E1)
Used to prevent closure of the Ductus Arteriosus
Define tricuspid valve atresia
Describes absent or rudimentary tricuspid valve resulting in no blood flow between the Right atrium and ventricle.
What 2 echocardiogram findings are present in Tricuspid Atresia?
Right Ventricular hypoplasia
Right Atrial dilation (due to volume overload)
Give 3 clinical features of Tricuspid Atresia
Central cyanosis (within days of birth(
Tachypnea
Holosystolic murmur (at lower left sternal border)
What are more common VSDs or ASDs?
VSDs
Define Ebstein anomaly
Describes a congenital heart defect characterised by low insertion of the tricuspid valve, resulting in a large atrium and small ventricle
What is the main risk factor for Ebstein’s anomaly?
In-utero Lithium exposure
Give 2 other cardiac defects associted with Ebstein Anomaly
Interatrial communication (ASD) (90%)
Conduction disorders (WPW, supraventricular tachycardia)
Give 3 clinical features of Ebstein Anomaly
Cyanosis
Right bundle branch block
Tricuspid regurgitation (Pansystolic murmur -worse on inspiration)
Define Persistent Truncus Arteriosus
Describes underdevelopment of the aorticopulmonary septum.
Truncus arteriosus doesn’t divide resulting in a single trunk that receives output from both ventricles.
What is the truncus arteriosus?
Part of the developing heart that divides into the pulmonary trunk and aorta
What syndrome is associated with Persistent Truncus Arteriosus?
DiGeorge Syndrome
What determines the severity of Persistent Truncus arteriosus?
Pulmonary Vascular Resistance (PVR)
Define pulmonary vascular resistance (PVR)
The resistance that must be overcome in order to move blood through the pulmonary vasculature
How is Pulmonary Vascular Resistance Calculated?
PVR = (mPAP-PAWP)/Cardiac output
mPAP - Mean pulmonary artery pressure
PAWP - Pulmonary Artery Wedge Pressure
What units are used to express PVR? And what is considered abnormal?
Woods units
> 2 is considered abnormal
DiGeorge syndrome occurs due to a deletion in which chromosome?
Chromosome 22
Define DiGeorge Syndrome
Syndrome characerised by defective development of the 3rd and 4th pharyngreal pouches, leading to hypoplastic thymus and parathyroids
Give 5 clinical features of DiGeorge Syndrome
Cardiac anomalies (tetralogy of fallot, persistent truncus arteriosus, VSD, ASD, systolic murmur)
Facial defects (prominent nasal bridge, prominent ears, cleft lip and palate, micrognathia)
Thymus aplasia/hypoplasia (Recurrent infections due to T cell deficiency)
Recurrent infections (parainfluenza, thrush)
Hypoparathyroidism (hypocalcemia)
Give 3 features of hypocalcemia
Tetany;
Cramps
Spasms
Hyporeflexia
Give 3 investigation results seen in DiGeorge Syndrome
Decreased Parathyroid Hormone
Decreased Calcium
Decreased T-lymphocyte count
What 2 signs are positive in hypocalcemia?
Trousseau sign (spasm of hand)
Chvostek sign (contraction of ispilateral facial muscles after percussion over facial nerve)
What x-ray feature may be present in a patient with DiGeorge Syndrome?
No thymic shadow
What is the most common congenital heart defect?
Ventricular Septal Defect
Give 3 risk factors for VSD
Downs, Pataus and Edwards Syndrome
Intrauterine infections (TORCH)
Maternal diabetes, obesity and smoking
Define TORCH (maternal intrauterine infections)
Toxoplasmosis
Other agents (Varecilla zoster, Parvovirus B19)
Rubella
Cytomegalovirus
Herpes Simplex/HIV
Give 6 clinical features of VSD (post-natal)
Failure to thrive
Features of heart failure;
Hepatomegaly
Tachypnoea
Tachycardia
Pallor
Pan-systolic murmur
Give 6 clinical features of VSD
Failure to thrive
Features of heart failure;
Hepatomegaly
Tachypnea
Tachycardia
Pallor
Pan-systolic murmur
What shunt is seen in VSD?
Left to right shunt
Give 5 complications of VSD
Aortic regurgitation
Infective endocarditis
Eisenmengers complex
Right sided heart failure
Pulmonary hypertension
What is Eisenmenger’s syndrome?
Occurs due to prolonged pulmonary hypertension from left > right shunt
Results in right ventricular hypertrophy and increased right ventricular pressure.
Eventually leads to reversal of blood flow (right>left shunt)
What is the most common cause of infective endocarditis?
Staphylococcus aureus
Give 5 clinical features of infective endocarditis
Janeway lesions
Oslers nodes
Splinter haemorrhages
Fever, nightsweats, weightloss
Cardiac murmur
What valve is most commonly affected by infective endocarditis?
Mitral valve
Give 3 risk factors for ASD
Down Syndrome
Fetal alcohol syndrome
Holt-Oram syndrome (skeletal abnormalities in hands and arms)
Name 2 types of ASD
Ostium Secundum (70%) (Holt-Oram syndrome)
Ostium Primum (abnormal AV valves)
Give 3 clinical features of ASD
Asymptomatic (small defect)
Ejection systolic murmur
Widely split second heart sound (S2)
What causes the 2nd heart sound (S2)?
Closure of pulmonary and aortic valves
What causes the 1st heart sound (S1)?
Closure of mitral and tricuspid valves
Give 2 complications of ASD
Paradoxical embolism (increases risk of ischemic stroke)
Heart failure
The Ductus Arteriosus is a connection between which vessels?
Pulmonary trunk and descending aorta
When and why does the ductus ateriosus close?
Closes with first breath due to increased pulmonary blood flow which enhances prostaglandin clearance
Give 6 risk factors for PDA
Prematurity
Maternal Rubella (during 1st trimester)
Maternal Alcohol consumption
Maternal phenytoin use
Maternal prostaglandin use
Downs syndrome
What shunt is seen in PDA?
Left to right shunt (acyanotic)
Give 5 clinical examination findings of PDA
Left subclavicular thrill
Continuous machinery murmur (left sternal border)
Large volume, bounding collapsing pulse
Wide pulse pressure
Heaving apex beat
How is PDA managed in neonates?
Indomethacin or Ibuprofen (inhibit prostaglandin synthesis)
What causes the Ductus Arteriosus to remain patent?
Prostaglandin E2 production by the placenta
What is the MOA of indomethacin?
COX1/2 inhibitor
Give 1 contraindication for indomethacin use
GI disease (haemorrhage, ulceration, perforation ect)
What diuretic should be used in management of PDA? and why?
Chlorothiazide
As furosemide simulates renal synthesis of PGE2 and is associated with nephro and ototoxicity.
What should be given in PDA if there is a contraindication to ibuprofen?
Paracetamol
Where is the foramen ovale?
Hole between left and right atria
What condition is associated with PAtent Foramen Ovale?
Loeys-Dietz syndrome (connective tissue disorder)
Define coarctation of the aorta
Congenital narrowing of the descending aorta
Give 4 conditions associated with coarctation of the aorta
Turners syndrome
Bicuspid aortic valve
Berry aneurysms
Neurofibromatosis
Give 4 clinical features of coarctation of the aorta
Shock (neonates)
Hypertension at young age (resistant to treatment)
Delayed brachia -femoral pulse
Ejection sytolic murmur
Give 3 risk factors for coarctation of the aorta
Male
Turners syndrome
DiGeorge syndrome
How is coarctation of the aorta managed in neonates? (1)
Alprostadil (Prostaglandin E1 - maintain patency of ductus arteriosus in neonates)
What condition is associated with dextrocardia?
Kartagner’s syndrome
What is Kartagener’s syndrome? What is it caused by?
Primary ciliary dyskinesia (absent or dysmotile cilia)
Defect in dynein arm of microtubules
Give 4 clinical features of Kartagner syndrome
Recurrent otitis media, sinusitis and nasal polyps
Bronchiectasis
Dextrocardia/situ iversus
Subfertility (deminished sperm motility and defective ciliary action in fallopian tubes)
Define febrile convulsion
Seizure provoked by fever in otherwise normal children
Between what ages do febrile convulsions tend to occur?
6 months and 5 years old
Give 3 clinical features of febrile convusions
Usually occur early in a viral infection (as temperature rises) i.e otitis media
Brief seizures (<5 mins)
Tonic clonic seizures
Define simple febrile convulsion (4)
<15 minutes
Generalised seizure
No recurrence in 24 hours
Should recover in an hour
Recurrent febrile convulsions be managed? (2)
Rectal diazepam or buccal midazolam
Define complex febrile seizure
15-30 minutes
Focal seizure
May have repeat seizures within 24 hours
Define biliary atresia. When does it present?
Describes complete obliteration or discontinuity of the extrahepatic biliary system (commonly bowel duct), resulting in obstruction to flow of bile (cholestasis)
Typically presents in first weeks of life
Name and define 3 types of biliary atresia. Which is most common?
Type 1 - Proximal ducts are patent, but common duct is obliterated
Type 2 - Atresia of the cystic duct and cystic duct structures, found in the porta hepatis
Type 3 - Atresia of the left and right ducts to the level of the porta hepatis (most common)
What 3 structures are found in the porta hepatis?
Hepatic portal vein
Hepatic artery proper
Common bile duct
Describe the pathophysiology of biliary atresia
Obliteration of bile system > Obstruction of bile flow (cholestasis) > Secondary biliary cirrhosis and portal hypertension
Give 5 clinical features of biliary atresia
Presents in first few weeks of life
Prolonged neonatal jaundice (extending beyond physiological 2 weeks)
Dark urine and pale stools
Appetite and growth disturbance
Hepato-splenomegaly
How is biliary atresisa diagnosed?
Cholangiography (fails to show biliary tree)
What 3 laboratory findings may be seen in biliary atresia?
Elevated Conjugated bilirubin
Elevated AST/ALP
Elevated GGT
What ultrasound findings may be seen in biliary atresia? (2)
Absence of gall bladder
No dilatation of biliary tree
Define volvulus
Describes twisting of a loop of bowel on it’s mesentery (common cause of intestinal obstruction)
Most commonly presents as midgut volvulus
What is the mesentery?
A double layered fold of peritoneum that anchors the colon to the posterior abdominal wall
Describe normal intestinal rotation
Midgut starts to elongate in utero (4th week) > Midgut herniates out of the umbilicus (6th week) > 90 degree counter-clockwise rotation of the midgut > re-entry of the midgut into the abdominal cavity (10th week) > 180 degree rotation inside the abdominal cavity > fixation of the duodenojejunal flexure and cecum to the posterior abdominal wall.
In total, how many degrees rotation occurs in normal intestinal rotation?
270 degrees rotation
What are the 2 types of intestinal malrotation?
Non rotation - The entire colon is left sided and the entire small bowel is right sided
Incomplete rotation - Cecum remains fixed in the right upper quadrant by peritoneal bands (Ladd bands)
Give 3 clinical signs of intestinal malrotation (bowel obstruction) in neontates
Bilious vomiting (thick, green vomit)
Abdominal distension
Absent bowel sounds
Give 4 conditions associated with intestinal malrotation
Exomphalos (organs herniate through umbilicus into hernial sac)
Congenital diaphragmatic hernia
Intrinsic duodenal atresia
Congenital heart defects
What diagnostic tests are used to diagnose intestinal malrotation? Which is gold standard?
Upper GI contrast study (gold standard)
Ultrasound study
Describe the initial resuscitation management of intestinal malrotation (4)
NG tube
IV fluids
Correction of electrolyte imbalance
Broad Spectrum Antibiotics
How is intestinal malrotation managed?
Laparotomy (if volvulus present)
Ladd’s procedure (division of Ladd bands)
Define intussusception
Describes when the proximal part of the bowel invaginates into the distal part, resulting in mechanical obstruction and bowel ischemia
Where in the bowel does intussusception commonly occur?
Ileo-caecal region
Give 5 clinical features of intussusception
Acute cyclical colicky abdominal pain (sudden onset screaming or crying spells)
Sausage shaped mass in right upper quadrant
Red currant jelly stool
Legs drawn up + Abdominal tenderness
Vomiting (initially nonbilious)
What investigation is used to confirm intussusception?
Abdominal Ultrasound
If an infant with intussusception presents with features of bowel obstruction/perforation, what investigtion should be performed?
Abdominal X-ray
What would an ultrasound show in a patient with intussusception? (2)
Target like mass
Pseudokidney sign (longitudinal view shows distal loop of bowel resembling kidney)
How is intussusception managed? (3)
Hypovolemia - IV fluid resuscitation (saline)
Bowel obstruction - Abdominal X-ray, NG tube (drainage), IV antibiotics (Gentamycin, Amoxicillin and Metronidazole)
Curative - Air enema (Reduction with air insufflation)
Describe features of small bowel obstruction (4)
Abdominal pain – Colicky
Vomiting and/or nausea – Early onset, Large volume of bilious vomit
Constipation – late onset
Abdominal distension – Less severe than LBO
Describe features of large bowel obstruction (4)
Abdominal pain – colicky or constant
Vomiting and/or nausea – Late onset, initially bilious but progresses to fecal vomiting
Constipation – Early onset
Abdominal distention – Early and significant abdominal distension
Define pyloric stenosis. When does it typically present?
Typically presents in 1st 4 weeks of life
Describes idiopathic hypertophy and hyperplasia of pyloric sphincter muscles, making it difficult to pass food through
Give 3 risk factors for pyloric stenosis
Exposure to nicotine during pregnancy
Macrolide antibiotics - Erythromycin/Azithromycin (esp during 1st 2 weeks of life)
Bottle feeding
Give 3 clinical features of pyloric stenosis
Projectile vomiting occurring after feeding (non-bilious - as obstruction is proximal to ampulla of Vater)
Palpable olive shaped structure in epigastrium (sign of pyloric hypertrophy)
Visible gastric peristalsis proximal to site of obstruction
How is pyloric stenosis diagnosed?
Clinical - if palpable signs are present
If not - Ultrasound confirms diagnosis
How is pyloric stenosis managed?
Ramstedt pyloromyotomy (muscle splitting incision of pyloric sphincter)
Define oesophageal atresia
Describes abnormal development of tracheoesophageal septum.
Congenital defect in which upper oesophagus does not connect to lower oesophagus.
Manifests immediately after birth
What is the most common type of oesophageal atresia?
Gross type C - Oesophageal atresia with fistula connected distally to trachea
Give 3 clinical features of oesophageal atresia
Manifests immediately after birth
Prenatal - polyhydraminos - as fetus is unable to swallow amniotic fluid
Post-natal - Excessive secretions/foaming from the mouth. Vomitng, choking, drooling, inability to feed
Give 1 complication of oesophageal atresia. How may it present? (3)
Aspiration pneumonia 2nd to tracheoesophageal fistula.
Presents with;
Coughing
Rales (discontinuous rattling on auscultation)
Cyanotic attacks
How is oesophageal atresia diagnosed?
NG tube placement - Tube cannot pass through oesophagus
Abdominal/Thorax x-ray - Shows oesophageal pouch
What should also be investigated in oesophageal atresia? How does it occur?
VACTERL anomalies
Vertebral
Anal
Cardiac
Tracheoesophageal fistula
Renal
Limb
Occurs due to defect in embryonic mesoderm
How is oesophageal atresia managed? (2)
Surgery within 1st 24 hours to reconnect upper and lower oesophagus
Gastrostomy tube - to allow enteral feeding
What is the most common nephrotic syndrome in children?
Minimal change disease
How is nephrotic syndrome defined? How is it typically characterised?
Defined as proteinuria due to podocyte pathology
Characterised by triad of; proteinuria, hypoalbuminaemia and oedema
Not associated with haematuria but is associated with blood clotting due to protein loss
How is nephritic syndrome described and what is it characterised by? (4)
Defined by haematuria due to inflammatory damage
Characterised by;
Haematuria + red cast cells
Proteinuria leading to oedema
Hypertension
Oliguria and progressive renal impairment
What triad is classically seen in nephrotic syndrome?
Proteinuria
Hypoalbuminaemia
Oedema
Name 3 types of nephrotic syndrome. Which is most common? (
Minimal change disease (most common)
Focal segmental glomerulosclerosis
Membranous nephropathy
Minimal change disease is typically idiopathic, but can occur secondary to what? (4)
Hodgkin’s lymphoma
Leukaemia
Drugs - NSAIDs/Lithium
Hepatitis B/C
What diagnostic test is used to diagnose minimal chage disease? What will it show?
Renal biopsy + Electron microscopy
Shows effacement (shortening/thinning) of podocyte foot processes
Describe the management of minimal change disease
Initial treatment - Prednisolone
Infrequent relapses;
- Increase dose of prednisolone or
- Calcineurin inhibitor (Ciclosporin or Tacrolimius)
Frequent relapses
- DMARD - Mycophenolate mofetil
How does Nephritic syndrome typically present? (4)
Haematuria + red cast cells
Proteinuria leading to oedema
Hypertension
Oliguria and progressive renal impairment
Name 4 types of nephritic syndrome. Which is most common?
IgA nephropathy (most common)
Good pastures (Anti-GBM)
Post streptococcal (cresenteric)
SLE
How does IgA nephropathy typically present?
Presents with macroscopic haematuria following a respiratory infection
How is IgA nephropathy distinguished from post-streptococcal glomerulonephritis? (2)
Post streptococcal has low complement levels and proteinuria (IgA does not)
IgA nephropathy develops 1-2 days after Upper RTI, post streptococcal occurs 1-2 weeks after.
Define goodpastures syndrome
Now called Anti-glomerular basement membrane disease (GBM)
Describes a rare type of small vessel vasculitis associated with both pulmonary haemorrhage and progressive glomerulonephritis
What causes goodpastures syndrome?
Caused by anti-glomerular basement membrane antibodies against Type IV collagen (type found in basement membranes of alveoli and glomeruli)
How is goodpastures diagnosed? (2)
Renal biopsy - Showing IgG deposits along basement membrane
Antiglomerular basement membrane antibody (Anti-GMB confirms diagnosis)
How is goodpastures syndrome managed? (3)
Prednisolone
Plasmapheresis
Cyclophosphamide
How may goodpastures syndrome present? (3)
Haemoptysis (due to pulmonary haemorrhage)
Reduced urine output (AKI)
Oedema
What bacterium causes Whooping cough?
Bordetella pertussis (gram negative)
When are infants given vaccinations for whooping cough?
2 months, 3 months, 4 months and 3.5 years
How long is the incubation period for whooping cough?
5-10 days (maximum 21)
What criteria would make you suspect whooping cough?
Suspect in person with acute cough lasting >14 days + 1 or more of the following;
Paroxysmal cough (recurring intense episodes of cough)
Inspiratory whoop
Post-tussive (after coughing) vomiting
Undiagnosed apnea
Give 4 clinical features of whooping cough
Coughing bouts (worse at night)
Post cough vomiting
Inspiratory whoop
Apnea
How is whooping cough diagnosed? (2)
Nasal sawb for Bordetella pertussis
PCR and serology (increasingly used now due to availability)
How is whooping cough managed? (3)
Oral macrolide - Clarithromycin, azithromycin, erythromycin
Household contacts offered antibiotic prophylaxis
Notify pyblic health england
How long should a child with whooping cough be excluded from school? (2)
48 hours after commencing antibiotics
Or 21 days after onset of symptoms (if no antibiotics)
What is the number 1 cause of painless massive GI bleeding in children aged 1-2?
Meckel’s diverticulum
Define Meckel’s diverticulum
Describes a true diverticulum (involving all layers of the gut wall) at the terminal ileum
Meckel’s diverticulum occurs due to a reminant of what?
Vitelline duct (omphalomesenteric duct)
What mucosa can be present in Meckel’s diverticulum?
Ectopic ileal, gastric or pancreatic mucosa
What are the rule of 2s for Meckel’s diverticulum? (3)
Occurs in 2% of the population
Is 2 feet from the ileocaecal valve
Is 2 inches long
How does Meckel’s diverticulum typically present? (3)
Right Lower Quadrant Pain (mimicing appendicitis)
Rectal bleeding
Intestinal obstruction 2nd to omphalomesenteric band, volvulus and intussusception)
Define androgen insensitivty syndrome
Describes an X-linked recessive condution due to end organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype
What is the pattern of inheritance in androgen insensitivity syndrome?
X-linked recessive (46XY)
Give 3 clinical features of androgen insensitivity syndrome
Primary amenorrhoea
Undescended testes causing groin swellings
Delayed puberty (no pubic hair, small breasts, slim build)
How is androgen insensitivity syndrome diagnosed? (2)
Buccal smear or chromosomal analysis (46XY genotype)
Define Kallman’s syndrome
Recognised cause of delayed puberty secondary to hypogonadotrophic hypogonadism.
Occurs due to failure of GnRH secreting neurones to migrate to the hypothalamus
Give 4 clinical features of Kallman’s syndrome
Delayed puberty (male)
Ansomia (lack of smell)
Hypogonadism, cryptorchidism
Cleft lip/palate and hearing/visual defects (rare)
What is the pattern of inheritance for Kallman Syndrome?
X-linked recessive
Describe the expected LH and Testosterone levels in Primary hypogonadism, (klinefelters), Hypogonadotrophic hypogonadism (Kallman’s) and Androgen insensitivity syndrome
Klinefelters - High LH, Low Testosterone
Kallman’s - Low LH, Low Testosterone
Androgen insensitivity - High LH, Normal/High testosterone
What karyotype is Klinefelter’s syndrome associated with?
47, XXY
Give 5 clinical features of Klinegelter’s syndrome (primary hypogonadism)
Taller than average
Lack secondary sexual characteristics
Small, firm testes
Gynecomastia (increased incidence of breast cancer)
Infertility
What immunisation is offered to boys and girls at 12-13 years old (year 8)?
HPV (Human papilloma virus)
What is the most common cardiac pathology associated with Duchenne muscular dystrophy?
Dilated cardiomyopathy
Give 5 clinical features of otitis media
Acute onset of;
Fever
Irritability
Vomiting
Anorexia
Previous viral upper respiratory infection
When are antibiotics indicated in a child with otitis media? (4)
If;
Tympanic membrane is perforated
Child is <3 months
Child is <2 years and infection is bilateral
If symptoms present for 4 or more days
How is otitis media managed? (1st, 2nd, 3rd and 4th line)
1st line - Oral analgesics (NSAIDs/Paracetamol)
2nd line - Amoxicillin (Offered if symptoms don’t improve after 4 days)
3rd line - Clarithromycin/erythromycin (if penicillin allergy)
4th line - Co-amoxiclav (if symptoms don’t subside after 2-3 days on previous AB)
Give 3 intracranial complications of otitis media
Meningitis (headache, vomiting, photophobia, phonophobia)
Sigmoid sinus thrombosis (sepsis, swinging pyrexia, meningitis)
Brain abscess (sepsis and neuro signs - CN compression)
Give 4 extra-cranial complications of otitis media
Facial nerve palsy (LMN lesion in CN VII)
Mastoiditis
Petrositis (Gradenigo syndrome- otorrhoea, pain inside ear and eye, ispilateral VI nerve palsy)
Labyrinthitis (vertigo, nausea, voming and imbalance)
What is Gradenigo syndrome? What it is a feature of? How does it present?
Feature of petrositis (infection of otitis media spreading to pertrous temporal bone)
Presents with; otorrhoea, pain deep inside the ear and eye and ispilateral N VI palsy
How may labyrinthitis present in otitis media? (4)
Vertigo
Nausea
Vomiting
Imbalance
What is the 1st line treatment for neonatal sepsis?
Benzylpenicillin + Gentamycin
What vaccination should pregnant women be offered between 16-32 weeks?
Pertussis (whooping cough) + Influenza
What virus commonly causes Hand, Foot and Mouth Disease?
Coxsackie A16
What is the most common cause of vomiting in infancy?
GORD (Gastro-oesophageal Reflux Disease)
Give 2 clinical features of GORD in children
Typically develops before 8 weeks
Vomiting/regurgitation following feeds
How is GORD managed in children?
Trials of;
Smaller more frequent feeds
Thickened formula
Alginate therapy (should not bee used at the same time as thickening)
PPI (omeprazole - 4 week trial)
When should use of a PPI be considered in infants with GORD? (3)
If presenting with 1 or more of;
Unexplained feeding difficties (refusing feeds, gagging or choking)
Distressed behaviour
Faltering growth
What is the commonest cause of respiratory distress in a newborn?
Trnsient Tachypnoea of the newborn
What is a common risk factor for TTN?
Caesarean sections (occurs due to delayed resorption of fluid in the lungs)
How it TTN diagnosed? What may the investigation show?
Chest X-ray
May show;
Hyperinflation of the lungs
Fluid filled horizontal fissure
How is TTN managed?
Observation and supportive care (symptoms usually resolve in 1-2 days)
Supplementary O2 may be required to maintain sats
How is neonatal sepsis categorised?
Early onset sepsis (within first 72 hours of birth)
Late onset sepsis (7-28 days of life)
What are the 2 most common causes of neonatal sepsis?
Group B streptococcus
E.coli
What is the most common cause of early onset sepsis?
Group B Streptococcus
What is the most common cause of late onset sepsis?
Environmental pathogens;
Staphylococcus epidermidis (coagulase negative)
Give 3 risk factors for neonatal sepsis
Prematurity ( <37weeks)
Low birth weight (<2.5kg)
Maternal GBS infection
Give 6 clinical features of neonatal sepsis
Respiratory distress (grunting, nasal flaring, tachypnoea)
Tachycardia
Apnoea
Jaundice
Seizures
Poor-feeding, abdominal distension and/or vomiting
Features tend to be non-specific
What clinical feature is the most common presentation of neonatal sepsis?
Respiratory distress (grunting ect)
What investigations should be ordered in ?neonatal sepsis? (3)
Blood culture (establish diagnosis)
FBC (neutrophilia and neutropenia)
ABG (metabolic acidosis)
How is neontal sepsis managed?
1st line - IV Benzylpenicillin + Gentamicin
Remeasure CRP 18-24 hours after presentation
When can antibiotics be stopped in neonatal sepsis?
Stop at 48 hours if CRP <10mg/L and negative blood culture at presentation and at 48 hours
Give 5 features of cows milk intolerance
Regurgitation and vomiting
Diarrhoea
Urticaria (rash) and atopic eczema
Colic symptoms (irritability/crying)
Wheeze, chronic cough
How is cows milk intolerance diagnosed? What additional investigations would be performed?
Clinical diagnosis (improvement with cow’s milk elimination)
Skin prick/patch test
Total IgE and specific IgE (RAST) for cows milk protein
How is cows milk intolerance managed (if formula fed)?
If failing to thrive - refer to paediatrician
1st line - Extensive hydrolysed formula
2nd line - Amino acid based formula (severe cases/no response to eHF)
How is cows milk intolerance managed if breast fed?
Continue breastfeeding
Eliminate cows milk from maternal diet
What is the prognosis for cows milk intolerance
In children with IgE mediated intolerance - 55% will be milk tolerant by 5
In children with non-IgE mediated intolerance, most children will be milk tolerant by 3.
Is cows milk intolerance IgE mediated or non-mediated?
Both
Give 3 characteristics of hypospadias
Ventral urethral meatus
Hooded prepuce
Chordee (ventral curvature of penis)
What condition is commonly associated with hypospadias?
Cryptorchidism (undescended testes)
What is it important not to do before surgery of hypospadias?
Circumcision (as foreskin may be used in corrective procedure)
What is the most appropriate next step for a child presenting with limp/hip pain and a fever?
Refer urgently for same-day assessment
What type of vaccine is the MMR jab?
Live attenuated
How is biliary atresisa diagnosed?
Cholangiography (fails to show biliary tree)
What vaccine should be offered to all asthmatic children on corticosteroids?
Influenza vaccine
Define Potter’s Syndrome
Describes the typical physical appearance caused by pressure in utero caused by oligohydraminos.
Occurs due to bilateral renal agenesis
Why does bilateral renal agenesis result in Potter syndrome?
Renal tract complications lead to;
Lack of amniotic fluid resulting in foetal compression (causing facial and limb characteristics)
Lack of amniotic fluid affects lung development, leading to pulmonary hypoplasia
How may necrotising enterocolitis present? (4)
Feeding intolerance
Abdominal distension
Bloody stools
Bilious vomiting
How is necrotising enterocolitis diagnosed? What will the test show? (4)
Abdominal x-ray;
Shows dilated bowel loops (asymmetrical)
Bowel wall oedema
Pneumatosis intestinalis (intramural gas)
Air both inside and outside of bowel wall (Rigler sign)
How is necrotising enterocolits managed? (4)
Laparotomy (initially)
Stop oral feeds
Barrier nurse
Give antibiotics - Cefotaxime and vancomycin
What antibiotics are given in the management of necrotising enteroclolitis?
Cefotaxime and vancomycin
How are mitochondrial diseases inherited?
Maternal inheritance
Non of children in an affected male will inherit disease
All of children of an affected female will inherit disease
Define Immune Thrombocytopenia (ITP)
Describes an immune mediated reduction in platelet count (thrombocytopenia)
Typically follows infection or vaccination
Give 3 clinical features of ITP
Bruising
Petechial or purpuric rash
Epistaxis or gingival bleeding (less common)
How is achondroplasia (dwarfism) inherited?
Autosomal dominant
If two parents have achondroplasia, what are the chances of their child having the same condition?
1/4 - unaffected
1/2 - affected heterozygous
1/4 - affected homozygous
Define Duchene muscular dystrophy
Describes an X-linked recessive inherited disorder in dystrophin genes required for normal muscular function
Give 4 clinical features of Duchenne muscular dystrophy
Progressive proximal muscle weakness form 5 years
Disproportionally large calves
Grower’s sign - Child uses arms to stand from a squatted position
Intellectual impairment (30%)
What investigation is used to diagnosed Duchenne muscular dystrophy?
Genetic testing
What biochemical marker is likely to be raised in Duchenne muscular dystrophy?
Creatinine Kinase
When can children with scarlet fever return to school?
24 hours after commencing antibiotics
When can children with measles return to school?
4 days from onset of rash
When can children with rubella return to school?
5 days from onset of rash
Give 3 fractures that are commonly seen in non-accidental injury
Radial
Humeral
Femoral
Give 4 causes of neonatsal jaundice (in firt 24 hours)
Rhesus haemolytic disease
ABO haemolytic disease
Hereditary spherocytosis
Glucose-6-dehydrogenase
What is the most common cause of childhood hypothyroidism?
Autoimmune thyroiditis
How is constipation diagnosed in a child <1/
2 or more of the following are required for diagnosis
Stool pattern;
- < 3 complete stools per week - type 3/4 on Bristol stool chart
- Hard large stool
- Rabbit droppings (type 1)
Symptoms associated with defication
- Distress on passing stool
- Bleeding due to hard stool
- Straining
History
- Previous episode of constipation
- Previous or current anal fissure or more
How is constipation diagnosed in a child >1?
2 or more of the following are required for diagnosis;
Stool pattern;
- Fewer than 3 complete stools per week (type 3 or type 4)
- Overflow soiling (commonly loose, smelly stools passed without sensation)
- Rabbit droppings (type 1)
- Large infrequent stools that block the toilet
Symptoms associated with defication;
- Poor appetite that improves with passage of large stools
- Evidence of retentive posture (straight legged, tiptoe)
-Anal pain/straining
History;
- Previous episodes of constipation
Give 5 red flag symptoms suggesting underlying disorder causing constipation in a child
Timing - Reported from birth or first few weeks of life
Passage of meconium >48 hours
Ribbon stools
Abdominal distension
Undiagnosed/known weakness in legs/locomotor delay
Before starting treatment for constipation, what does a child need to be assessed for?
Faecal impaction
Give 3 factors that suggest faecal impaction
Symptoms of severe constipation
Overflow soiling
Faecal mass palpable in the abdomen
What is encopresis and how does it occur?
Term used for faecal incontinence
Sign of chronic constipation where rectum becomes stretched and looses sensation.
Hard stools remain in the rectum while loos ones are able to bypass, resulting in soiling
How is faecal impactation managed? (2)
1st line - Macrogol (using escalating dose regimen
2nd line - Senna (Stimulant laxative)
Describe the escalating dose regiment for a child aged 1-5 presenting with constipation. (disimpactation doses)
Two sachets on day 1 > 4 sachets for 2 days > 6 sachets for 2 days > 8 sachets daily
Until one or two formed stools (soft) are produced each day)
Describe the maintenance regimen for children with constipation (after disimpactation).
1st line - Macrogol (escalating dose regimen)
(if child required disimpactation, dose is HALF disimpactation dose)
2nd line - Senna (stimulant laxative)
What should be done if diarrhoea occurs 2nd to laxative use?
Reduce dose of laxative (as can lead to hypokalemia)
Name 4 types of laxatives
Bulk-forming laxatives (ispaghula husk and methylcellulose)
Osmotic laxatives (lactulose and macrogol)
Stimulant laxatives (senna and sodium picosulfate)
Stool softener laxatives (docusate sodium)
Name 2 bulk forming laxatives and describe how they work
Ispaghula husk and methylcellulose
Work similar to dietary fibre, increasing the bulk of stools, helping them retain fluid and encouraging bowels to push stools out
Name 2 osmotic laxatives and describe how they work
Lactulose and Macrogol
Act to soften stools, making them easier to pass by increasing the amount of water in the bowel
Name 2 stimulant laxatives and describe how they work
Senna and sodium picosulfate
Work by speeding up movement of bowels by stimulating contraction of the muscle lining of digestive tract
Name 1 stool softener laxative and describe how it works
Docusate sodium
Increases fluid content of hard, dry stools, making them easier to pass
What is the management of bacterial meningitis? (2)
<3 months - IV amoxicillin (or ampicillin) ++ IV cefotaxime (to cover listeria)
> 3 months - IV cefotaxime (or ceftriaxone)
What age should a child be able to sit without support?
6-8 months
Define impetigo
Describes a superficial bacterial infection of the skin, commonly caused by Staphylococcus aureus and/or streptococcus pyogenes
Name 3 types of impetigo
Non-bullous impetigo - Caused by Staphylococcus Aureus and/or Streptococcus pyogenes (majority of cases)
Bullous impetigo - Staphylococcus aureus
MRSA caused impetigo
How does Non bullous Impetigo tend to present? (3)
Thin walled vesicles/pustules which release exudate forming a golden/brown crust
May be pruritis (itchy)
Negative Nikolsky sign
What is Nikolsky sign?
Sign when top layers of skin slip away from bottom layers when rubbed.
Skin rubs off leaving a red raw base
How is impetigo spread?
Via direct contact with discharges from scabs o an infected person
What is the incubation period of impetigo?
4-10 days
Where on the body does impetigo tend to manifest?
Manifests on flexures, face, trunk and limbs (can be widespread on infants)
How is impetigo diagnosed? (2)
Usually clinical
Swabs (of exudate from moist lesion) for culture
Name 4 complications of impetigo that would require referral to secondary care
Acute glomerulonephritis (following streptococcal impetigo)
Cellulitis
Sepsis
Scarlet fever, urticaria and erythema multiforme (following streptococcal infection)
How long should a child with impetigo be excluded from school?
Until lesions have healed, dried or crusted over
Or 48 hours after starting antibiotics
How is localised non-bullous impetigo managed? (1st and 2nd line)
1st line Hydrogen peroxide 1% cream (for patients not systemically unwell)
2nd line - Short course of topical antibiotic (Fusidic acid or Mupirocin)
How is widespread non-bullous impetigo managed in children? (1st, 2nd and 3rd line)
1st line - Topical fusidic acid or Mupirocin (if fusidic acid resistant) (if not sytemically unwell)
OR
1st line - Oral flucloxacillin (do not combine with topical, one or the other)
2rd line - Clarithromycin/Erythromycin (if penicillin allergy)
What is the 1st and 2nd line for bullous impetigo in children?
Oral antibiotics;
1st line - Oral flucloxacillin
2nd line - Clarithromycin/Erythromycin (if penicillin allergy)
What is the difference between bullous and non bullous impetigo? (4)
Size of the vesicles.
Non-bullous tend to be pustules, while bullous tend to be vesicles >5mm in diameter)
Bullous tends to present on trunkand upper extremities, whils non-bullous is on face, nose and mouth
Bullous may present with systemic signs (fever, malaise, weakness)
What reflex may occur in a young child suddenly immersed in cold water? How is it characterised?
Mammalian diving reflex
Characterised as bradycardia, apnea and vasoconstriction of nonessential vascular beds with shunting of blood to the coronary and cerebral circulation
What nervous system mediates laryngospasm in drowning?
Parasympathetic
Describe infectious mononucleosis. Mention triad of symptoms
AKA glandular fever, infectious mononucleosis is an acute condition caused by Epstein-Barr Virus.
Present with a triad of;
Sore throat
Lymphadenopathy
Pyrexia/fever
What pathogen causes infectious mononucleosis?
Epstein Barr Virus
How is the presentation of lymphadenopathy different in infectious mononucliosis vs tonsilitis?
IM - Lymphadenopathy occurs in the anterior and posterior triangles of the neck
Tonsillitis - Typically only occurs in the upper anterior cervical chain
What medication can trigger a maculopular, pruritic rash in a patient with infectious mononucleosis?
Ampicillin/amoxicillin
What 3 blood findings may be presewnt in a patient with infectious mononucleosis?
Lymphocytosis
Haemolytic anaemia (2nd to cold agglutins IgM)
Hepatitis (transient rise in ALT)
What tests are used to diagnose infectious mononucleosis?
Monospot test + FBC in 2nd week of illnss
What does the monospot test diagnose and what does it detect?
Diagnoses - Infectious mononucleosis
Detects - Heterophile antibodies produced in response to EBV infection.
Give one alternative name for EBV
Human herpesvirus 4 - HHV-4
Define haemolytic uraemic syndrome
HUS describes a thrombotic microangiopathy in whihc microthrombi, consisting mainly of platelets, form and occlude arterioles and capillaries
What triad is typically seen in Haemolytic Uraemic syndrome?
Acute kidney injury
Microangiopathic haemolytic anaemia (normocytic anaemia)
Thrombocytopenia
What type of aneamia is seen in microangiopathic haemolytic anaemia?
Normocytic anaemia
Give 4 clinical features of haemolytic uraemic syndrome
Bloody diarrhoea (for past 5-10 days)
Thrombocytopenia (rash, mucosal bleeding, prolonged bleeding)
Normocytic anaemia ; Fatigue, dyspnea, pallor, jaundice)
Impaired renal function; Hematuria, proteinuria, oliguria
Give 3 secondary causes of haemolytic uraemic syndrome. Which is most common?
Shiga toxin producing E.coli (most common)
Pneumococcal infection
HIV
What is the main cause of primary haemolytic uraemic syndrome?
Compliment dysregulation
What invesitgations would you order for haemolytic uraemic syndrome? (5)
FBC - (Anaemia, Increased reticulocytes and schistocytes)
Coagulation profile (decreased platelets)
WCC - Increased WBCs
U&Es - Increased creatinine
Urinalysis (haematuria and proteinuria - AKI)
What medication should be offered to close contacts of a patient within 7 days of a patient with bacterial meningitis?
Oral Ciprofloxacin
What immunisations are given at 12-13 months? (4)
Hib/MenC + MMR + PCV + Men B
What vaccines are given at 2 months?
6-1 vaccine
Oral rotavirus vaccine
Men B
What vaccines are given at 3 months?
6-1 vaccine
Oral rotavirus vaccine
PCV (pneumococcal)
What vaccines are given at 4 months?
6-1 vaccine
Men B
What vaccines are given at 3-4 years?
4 in 1 pre-school booster (diphtheria, tetanus, whooping cough and polio)
MMR
What diseases does the 4-1 pre-school booster protect against?
Diphtheria
Tetanus
Whooping cough
Polio
Describe the management of chicken pox (3)
School exclusion (until vesicles have crusted over - usually 5 days after onset of rash)
Calamine lotion
Immunocompromised - Varricella zoster immunoglobulin
Describe 2 symptoms of chicken pox
Fever
Itchy, rash starting on head/trunk before spreading. (initially macular then papular then vesicular)
Decribe NICE guidence on school exclusion for a child with chicken pox
Most infectious period is 1-2 days before rash appears.
Infectivity continues until all lesions are dry and have crusted over (usually 5 days after onset of rash)
Name 4 drugs that can cause Steven Johnson Syndrome
Allopurinol
Penicillin
Lamotrigine
Phenytoin
Give 4 complications of chickenpox
Bacterial superinfection
Cerebellitis
DIC
Progressive disseminated disease
How may bacterial meningitis appear on LP?
Turbid appearance, raised polymorphs, raised protein, low glucose
How may viral meningitis appear on LP?
Clear appearance, raised lymphocytes, normal/raised protein, normal/low glucose
How may TB meningitis appear on LP?
Turbid/clear appearance, raised lymphocytes, raised protein, low glucose
How may Encephalitis appear on LP?
Clear appearance,normal/raised lymphocytes, normal/raised protein, normal/low glucose
How is estimated weight calculated for children
Estimated weight = (age+4)x2
What ml of bolus administered to a child in shock?
20m/kg
Caveat - In DKA or HF give 10ml/kg
How is hourly rate of fluid resuscitation calculated in children?
((Deficit-initial bolus)/48hr) + Maintenance per hour
Define neonatal hypoglycaemia
Blood glucose <2.6mmol/L
Give 2 features of neonatal hypoglycaemia
Autonomic features; Jitteriness, irritability, pallor, tachypnoea
Neuroglycopenic symptoms; poor feeding/sucking, weak cry, drowsy, seizures
How is asymptomatic hypoglycaemia managed? (2)
Encourage normal feeding (breast or bottle)
Monitor blood glucose
How is symptomatic/very low blood glucose neonatal hypoglycaemia managed? (2)
Admit to the neonatal unit
IV infusion of 10% dextrose
Define ophthalmia neonatorum
Infection of the newborn eye
What 2 organisms commonly cause Ophthalmia neonatorum
Chlamydia trachomatis
Neisseria gonorrhoeae
How may ophthalmia neonatorum present? (3)
Neonate presenting with history of ‘sticky eyes’
Bilateral purulent discharge
Conjunctival injection
How should ophthalmia neonatorum be managed?
Same day referral to ophthalmology/paediatric assessment
Give 4 neonatal characteristics of maternal Rubella Infection
Sensorineural deafness
Congenital Cataracts
Congenital heart disease (PDA)
Glaucoma
Give 3 neonatal characteristics of maternal Toxoplasmosis infection
Cerebral calcification
Chorioretinitis (inflammation of choroid in eye)
Hydrocephalus
Give 4 neonatal characteristics of maternal cytomegalovirus infection
Low birth weight
Purpuric skin lesions
Sensorineural deafness
Microcephaly
Roseola infantum is caused by what pathogen?
Human Herpes Virus 6 (HHV6)
What is the incubation period of Roseola infantum? Who does it typically affect?
5-15 days
Affects children aged 6 months to 2 years
Give 5 features of Roseola infantum
High fever: Lasting a few days, followed by;
Maculopapular rash
Nagayama spots (papular enanthem on the uvula and soft palate)
Febrile convulsions
Diarrhoea and cough
What lice causes headlice?
Pediculosis capitis
How long does it take head lice eggs to hatch?
7-10 days
How are headlice spread?
Direct head to head contact
How are headlice diagnosed?
Fine-toothed combing of wet or dry hair
Give 4 treatments of headlice
Malathion
Wet combing
Dimeticone
Isopropyl myristate
What organism commonly causes meningitis in neonate - 3 months
Group B Streptococcus
What organisms commonly causes meningitis between 1 month and 6 years? (3)
Neisseria Meningitidis
Streptococcus pneumoniae
Haemophilus influenzae
What organisms commonly cause meningitis in children >6 years? (2)
Neisseria meningitidis
Streptococcus pneumoniae
Define precocious puberty. In which sex is it more common?
Development of secondary sexual characteristics before 8 years in females and 9 years in males.
More common in females.
What term is used to describe the first stage of breast development?
Thelarche
What term is used to describe the first stage of pubic hair development?
Adrenarche
Name and describe 2 classifications for precocious puberty
Gonadotrophin dependent (due to premature activation of Hypothalamic-pituitary-gonadal axis) (FSH and LH is raised)
Gonadotrophin independent (pseudo) (due to excess sex hormones_ (FHS and LH is low)
What may bilateral enlargement of testes and precocious puberty suggest ?
Gonadotrophin release from an intracranial tumour
What may unilateral enlargement of a testicle and precocious puberty suggest?
Gonadal tumour
What may small testes and precocious puberty suggest?
Adrenal cause (tumour or adrenal hyperplasia)
