Paediatrics Flashcards
How would you measure temperature in a child <4 weeks?
Electronic thermometer in the axilla
How would you measure temperature in a child aged 4weeks to 5 years
- Electronic thermometer in axilla
- Infrared tympanic thermometer
- Chemical dot thermometer in axilla
How would you manage a child with a fever?
ABCDE
Traffic light asseessment measuring:
Temperature, oxygen saturations, resp rate, heart rate, capillary refill time
If under 6 months, temperature alone may signify high or intermediate risk. If over 6 months, look at other factors as well
Look for site of infection
Check for rash, behaviour, feeding, contacts, duration
What temperatures are high or intermediate risk in children under 6 months?
3-6 months = 39 or more
Under 3 months = 38 or more (RED)
How might you assess dehydration in a child?
Urine output, feeding and fluid intake Prolonged capillary refill time Abnormal skin turgor Abnormal respiratory pattern Weak pulse Cool extremities
When would you consider meningococcal disease?
Fever and non-blanching rash Purpura >2mm in size Cap refill >3s Neck stiffness Ill-looking child
When would you consider meningitis?
Fever Neck stiffness Bulging fontanelle Decreased level of consciousness Convulsive status epilepticus
When would you suspect Herpes Simplex Virus Encephalitis?
Fever
Focal seizures or neurological signs
Decreased level of consciousness
When would you consider pneumonia in a child?
Fever Tachycardia (>60 under 6 months, >50 6-12 months, >40 over 12 months) Crackles Respiratory recession/indrawing Nasal flaring Cyanosis Oxygen sats 95% or less
When would you consider a UTI in a child?
Always suspect a UTI, especially in child under 3 months with fever Over 3 months - fever with Vomiting/poor feeding Lethargy Irritability Abdominal pain/tenderness Frequency or dysuria
When would you consider septic arthritis in a child with a fever?
Swelling of limb or joint
Non-weight bearing on one limb
Not using extremities
What are some features suggesting Kawasaki disease in a child with a fever?
PROLONGED fever >5 days Conjunctivitis Rash (polymorphous) Oedema (palms or soles) Adenopathy - cervical, often unilateral M - mucosal involvement e.g. (cracked lips, strawberry tongue, peeling of fingers and toes)
What are the risks with children under 1 and Kawasaki disease?
May present with fewer clinical features other than fever
AND may be at increased risk of coronary artery abnormalities
How would you manage a fever in a child UNDER 3 MONTHS?
Observe and vital signs - temp, HR, RR
Ix: FBC, blood culture, CRP, urine testing
(CXR if resp signs, stool culture if diarrhoea)
LP first, then IV Abx - if under 1 month or appears unwell or WBC<5 or >15
IV Abx: Ceftriaxone or Cefataxime + Amoxicillin (listeria)
How would you manage a child over 3 months with a fever that has no apparent source?
Observe, vital signs, traffic light assessment
If one or more red symptoms - FBC, CRP, blood culture, urine testing
Consider: LP, CXR, serum electrolytes + blood gas (depending on clinical)
If amber symptoms - same as above except LP only in children under 1 year (unless indicated clinically), CXR only if >39C and WBC>20
How would you manage a febrile child with a viral co-infection of RSV or influenza?
Assess for serious illness
Urine testing
How might a child over 3 months be managed in hospital with a fever without apparent source?
Period of observation with anti-pyretics
If red or amber symptoms - reassessed every 1-2 hrs
What children presenting to ED would get immediate fluid bolus and parenteral antibiotics?
Any age if fever and shock
also unrousable, signs of meningococcal disesase
What fluid bolus would be given in ED for child with fever and shock?
IV 20ml/kg 0.9% saline, then actively monitored and given further fluids as necessary
What parenteral antibiotics would be given if child presents to ED with fever, shock or decreased level of consciousness?
Third generation cephalosporin - Cefotaxime, Ceftriaxone
If under 3 months - add in ampicillin/amoxicillin to cover listeria
What other medication may be given IV in child with fever and decreased level of consciousness, aside from antibiotics and fluids?
If signs of HSV encephalitis - IV aciclovir
Oxygen if in shock or sats <92% or <95% if clinically indicated
How should anti-pyretics in children be used?
Not to relieve febrile convulsions or body temp - more for distressed child
- continue until child less distressed, discontinue once distress stops
- do not use simultaneously (paracetamol+ibuprofen)
- consider changing to other agent if distress not relieved
- only alternate if not reducing distress or acting long enough between doses
What signs might you tell parents to look out for when managing a child at home with fever?
Signs of dehydration: sunken eyes, sunken fontanelle, dry mouth, absence of tears, poor overall appearance
Non-blanching rash
Check on child at night
What advice would you give to parents managing a child at home with a fever?
Encourage fluid intake (e.g. breastfeeding), watch for signs of dehydration, non-blanching rash, check on child at night, keep away from school/nursery until fever subsides
When should parents managing a child with a fever at home seek further help?
Behaviour change/appears unwell Signs of dehydration Non-blanching rash Fever last>5 days Has seizure Parent distressed/unable to manage/more concerned
What is the commonest cause of hospital admission for children?
Infection
What is the commonest site of infection for children?
Respiratory tract
Give some links between viral and bacterial illnesses
Mild viral illnesses can appear similarly to very severe bacterial infection
Viral infections can predispose to secondary bacterial infections, or can make bacterial infections worse
How is chickenpox related to bacterial infections?
Varicella Zoster Virus infection can increase risk of secondary bacterial infection for a few weeks after infection
Vesicular rash may become infected - necrotic skin lesions (Group A strep/s. pyogenes, staph)
Why might children with cold sores need admission to hospital?
HSV infection may lead to difficulty swallowing
What is the difference to the purpura in HSP vs meningococcal septicaemia?
HSP - purpura are PALPABLE
What cardiac health risks are associated with Kawasaki disease? How is this prevented?
Coronary artery inflammation or aneurysms
Prevented by treating Kawasaki disease with HIGH DOSE Ig and ASPIRIN
How are children presenting with COVID-19?
3-4 wks post-infection with inflammation in lungs, sepsis-like response
Most are not ill during RTI
What investigations are part of the septic screen?
FBC, CRP, blood culture, urine sample
Consider: CXR, LP, rapid antigen screen on blood/CSF/urine, meningococcal and pneumococcal PCR on blood/CSF, PCR for viruses in CSF (especially HSV and enterovirus)
What organisms cause bacterial meningitis in children under 3 months?
Group B strep
E.coli and other coliforms
Listeria monocytogenes
What organisms cause bacterial meningitis in children 1 months-6 yrs?
Neisseria meningitidis
Streptococcus pneumoniae
Haemophilus influenzae
What organisms cause bacterial meningitis in children over 6 yrs old?
Neisseria meningitidis
Streptococcus pneumoniae
How would you treat bacterial meningitis?
Third-generation cephalosporin - Cefotaxime, ceftriaxone
(+ Amoxicillin/Ampicillin if under 3 months)
(+ dexamethasone if over 3 months)
What are some cerebral complications of bacterial meningitis?
Hearing loss Local vasculitis - cranial nerve palsies, focal deficit Local cerebral infarction Subdural effusion Hib or pneumococcal meningitis Hydrocephalus Cerebral abscess
What prophylactic treatment is given to all household contacts of children with bacterial meningitis?
Rifampicin to all household contacts - eradicate nasopharyngeal carriage of meningococcal or Hib meningitis
If MenC - give household contacts MenC vaccine
What might the LP show on a child with bacterial meningitis that has already been given antibiotics prior to LP?
CSF - raised white cells
No organism on culture
Do rapid antigen screen and PCR to help if not clinically sure
What are the viral causes of meningitis?
Enterovirus
Epstein-Barr virus
Adenovirus
Mumps
What investigations can be done in a child to identify meningitis if lumbar puncture contraindicated?
Blood cultures
PCR, rapid antigen screens on blood and urine
Throat swabs for culture
Serological diagnosis 4-6wks after presenting illness
How can viral meningitis be diagnosed?
LP - culture or PCR of CSF stool culture urine culture nasopharyngeal aspirate throat swabs serology
If meningitis is atypical or not responding to usual antibiotics and supportive therapy, what should be considered?
Uncommon pathogens e.g. Mycoplasma, or Borrelia burgodorferi, fungal infections
- likely in children who are immunodeficient
Or aseptic meningitis - malignancy, autoimmune
What should be given to any child with fever and purpuric rash?
IM benzylpenicillin
What are the different aetiologies of encephalitis/encephalopathy?
Direct invasion cerebrum by neurotoxic virus (HSV)
Delayed swelling due to immune response (post-infectious encephalopathy e.g. VZV)
Slow virus infection (HIV, subacute sclerosing panencephalitis following measles)
Metabolic causes
What are the common features in children presenting with encephalitis?
Fever
Altered consciousness
Seizures
How should you manage a child with encephalitis?
Treat for both meningitis and encephalitis if unsure
Encephalitis = high dose IV aciclovir 3wks
Do LP for CSF PCR, CT/MRI, EEG (may be normal and need to be repeated if child not improving)
What is toxic shock syndrome?
Caused by toxins produced by S.aureus or Group A streptococci
Fever>39
Hypotension
Diffuse erythematous, macular rash
Toxins can be from infection at any site, may look minor e.g. small skin abrasions, burns. Superantigens causing immune response
What other features of organ dysfunction may occur in toxic shock syndrome?
Mucositis - conjunctivae, oral mucosa, genital mucosa
GI - vomiting, diarrhoea
Renal impairment
Liver impairment
Clotting abnormalities and thrombocytopenia
Central nervous system - altered consciousness
Desquamation of palms, soles, fingers, toes 1-2wks later
How is toxic shock syndrome managed?
Intensive care support
Infection areas debrided surgically
Ceftriaxone with Clindamycin
Iv Ig
What are the characteristics of a meningococcal rash?
Non-blanching on palpation
Irregular in size + outline
Necrotic centre
Where are pneumoccal infections carried and what can they cause?
Commonly carried in nasopharynx of asymptomatic, healthy children, but spread by respiratory droplets
Can cause: pharyngitis, otitis media, conjunctivitis, sinusitis, pneumonia, bacterial sepsis, meningitis
What diseases may be caused by Haemophilus influenzae B?
Otitis media, pneumonia, epiglottitis, cellulitis, osteomyelitis, septic arthiritis, meningitis.
Systemic diseases rare now due to vaccinations
What organisms commonly cause impetigo?
Staphylococcus
Group A streptococcus
What are the common features of impetigo?
Commoner in children with pre-existing skin disease
Lesions usually on face, neck and hands
Erythematous macules - vesicular/pustular/bullous over time
Vesicule rupture - exudate - honey-coloured crusted lesions
Infective exudate infects adjacent areas
How can impetigo be treated?
Topical antibiotics (fusidic acid/mupirocin) if mild, not widespread
Widespread - topical fusidic acid OR flucloxacillin 5 days
Unwell, bullous - Flucloxacillin 5 days
If poor adherence - co-amoxiclav, cefaclor
Other than treating the infection, how else might you manage impetigo?
Advise not to go to school/nursery until lesions are dry
Eradicate nasal carriage with nasal cream mupirocin, chlorhexidine, neomycin
What occurs with periorbital cellulitis? What causes it?
Fever, erythema, tenderness and oedema of eyelid, usually unilateral
Cause - staph, group A strep, (Hib not imm)
Can follow local trauma to skin
Older children - may spread from nasal sinus infection or dental abscess
Why should periorbital cellulitis be treated with IV antibiotics promptly (Clindamycin or Amoxicillin)?
To prevent orbital cellulitis - proptosis, painful, limited ocular movements, reduced visual acuity
Do CT to check spread infection
LP may be needed to exclude meningitis
What is scalded skin syndrome?
Staphylococcal toxin causes separation of epidermal skin. Affects young children and infants
Features: fever, malaise, purulent crusting localised infection around eyes, nose, mouth with subsequent erythema and tenderness of skin
Epidermis separates on gentle pressure (Nikolsky sign)
Denuded areas of skin dry and heal without scarring
How would you manage scalded skin syndrome?
IV anti-staphylococcal antibiotic (e.g. flucloxacillin)
Analgesia
Monitor fluid balance
Give some examples of herpesviruses. What is their common feature?
HSV1 and HSV2
VZV
EBV
Human herpes virus 6-8 (HHV8 associated Kaposi sarcoma in HIV positive)
After primary infection, latency period where dormant within host, stimuli may reactivate infection
How HSV transmitted? What are its typical features?
Mucous membranes or skin contact
Asymptomatic
Gingivostomatitis - (vesicles lips, gums, tongue, hard palate - painful ulceration and bleeding), fever, miserable, dehydration
Skin manifestations - cold sores (HSV1), Eczema herpeticum (vesicles on eczema, secondary bacterial infection), Herpetic whitlows (white pustules on broken skin of fingers)
Eye disease - blepharitis, conjunctivitis, corneal scarring, vision loss
CNS - encephalitis, disseminated infections and pneumonia in immunocompromised
How is chickenpox transmitted?
Respiratory droplets, contact with blisters
What are the stages of the chickenpox rash?
Rash comes in crops over 3-5 days (if more than 10 days, may be immunocomprised) - head, trunk then spreads to peripiheries
Papules, VESICLES, pustules, crusts
Scratching may cause permanent scar or secondary infection
What are some complications of chickenpox?
Bacterial superinfection - staph, strep - toxic shock, necrotising fasciitis
Central nervous system - cerebellitis, encephalitis
Immunocompromised - haemorrhagic lesions, pneumonitis, disseminated infection, DIC
How would you treat chickenpox?
Symptomatic
Immunocompromised/severe - IV aciclovir or oral valaciclovir, if contact - VZV Ig
Adolescents or adults - Valaciclovir
What is shingles?
Reactivation of VZV in dermatomal distribution
Rare in children and often no neuralgic pain, more common in those who had VZV in 1st yr of life
Recurrent shingles may mean immunocompromised
What are the features of Infectious mononucleosis?
Fever, malaise Tonsillopharyngitis Lymphadenopathy - prominent cervical and often diffuse adenopathy Petechiae on soft palate Spleno or hepatomegaly Maculopapular rash Jaundice
How is infectious mononucleosis diagnosed?
Blood film - atypical lymphocytes
Positive Monospot test
Seroconversion - production IgM and IgG to EBV
How is infectious mononucleosis treated?
Symptomatic treatment - symptoms usually resolve in 1-3 months
Corticosteroids if airway compromised
If group A strep on tonsils - penicillin (not amoxicillin/ampicillin as may cause maculopapular rash in children with EBV)
How is CMV transmitted?
Breast milk or genital secretions
Rare: blood products, organ transplatns, transplacentally
What are the features of CMV infection?
Infectious mononucleosis syndrome but not as bad as EBV
Congenital infection from maternal CMV may present at birth
Immunocompromised - retinitis, pneumonitis, bone marrow failure, encephalitis, hepatitis, colitis, oesophagitis. Very important pathogen post-organ transplant - close monitored by PCR blood tests for CMV
How might CMV be treated?
Disease - ganciclovir or foscarnet (SEs)
Reduce risk of transmission - CMV negative blood transfusions or antiCMV drug prophylaxis
What are the features of HHV6 and HHV7?
Most children infected by age 2 through oral secretions
Exanthem subitum - high fever and malaise lasting few days, macular rash as fever wanes
Frequently misdiagnosed as measles/rubella, allergic antibiotic reaction
Common cause of febrile convulsions
Rare - aseptic meningitis, encephaltiis, hepatitis, glandular fever
What is slapped cheek syndrome?
Parvovirus B19 infection causing erythema infectiosum
Spring is commonest time for infection
Transmission - respiratory secretions, vertical transmission, contaminated blood products
Infects erythroblastoid red cell precursors
What symptoms might you get with slapped cheek syndrome?
Asymptomatic
Erythema Infectiosum - fever, malaise, headache, myalfia followed by slapped cheek rash on face
Aplastic crisis - in children with chronic haemolytic anaemia or immunodeficient
Foetal disease - maternal parvovirus can cause foetal hydrops and death
Give some examples of common enteroviruses
Coxsackie
Echovirus
Poliovirus
What is the primary transmission of enteroviruses?
Faecal-oral route
What is the course of enterovirus infection?
Replicates pharynx and gut, spreads to infect other organs (common in summer and autumn)
Often asymptomatic, some non-specific febrile illness, sometimes blanching rash over trunk
Loose stools or vomiting, contacts
How would you manage a child with non-blanching rash, fever but not systemically unwell with suspected enterovirus?
Admit for observation
48hr parenteral antibiotics (ceftriaxone)
What are the clinical syndromes for enteroviruses?
Hand, foot and mouth disease Herpangina Meningitis/encephalitis Pleurodynia (Bornholm disease) Myocarditis, pericarditis
How should measles be diagnosed for epidemiological purposes?
Serology of blood or saliva
What are the clinical features of measles?
Fever
Cough, coryza
Conjunctivitis
Malaise
Koplik spots (white spots on buccal mucosa)
Maculopapular rash (spreads from behind ears to whole of body)
What are some serious complications of measles?
Encephalitis 8 days after onset
Subacute sclerosing panencephalitis (SSPE) - loss in neurological function, dementia and death
What is the treatment for measles?
Symptomatic
Isolated from other children
If immunocompromised - Ribavirin, vitamin A
How are measles and mumps transmitted?
Respiratory droplets
When does mumps usually occur? What is its course?
Winter and spring
Virus replicates within epithelial cells - gains access to parotid glands first
Incubation period 15-24 days, infectivity for up to 7 days after onset of parotid swelling
What are the clinical features of mumps?
Fever, malaise, parotitis, sometimes subclinical
Starts unilateral swelling, then bilateral over few days
Ear ache, pain on eating, drinking
Abdominal pain if pancreatic involvement
What are the complications of mumps?
Pancreatic involvement - raised plasma amylase
Hearing loss - usually transient and unilateral
Viral meningitis/encephalitis
Orchitis - infertility unusual
What are the clinical features of rubella?
Dangerous if in foetus - congenital
Low-grade fever or none
Maculopapular rash starting on face then to body
Lymphadenopathy - suboccipital, postauricular
What are some possible complications
of mumps?
Arthritis
Encephalitis
Thrombocytopenia
Myocarditis
What age group is most commonly affected by Kawasaki disease?
6 months to 4 years
How would you diagnose Kawasaki disease?
No diagnosis - based on clinical findings (characteristic features, high fever, inflammation of BCG vaccination)
Might do echo at 6 wks to rule out coronary aneurysms
How do you treat Kawasaki disease?
High dose aspirin
IV Ig in first 10 days
If coronary aneurysm - long-term warfarin and follow up
Persistent inflammation - infliximab, steroids or ciclosporin
Describe the course of TB
Respiratory droplet spread, close proximity
TB infection (latent TB) more likely to progress to active TB in children
Children usually acquire from an infected adult in their household
Give some features of TB
non-specific, prolonged fever, malaise, anorexia, weight loss, focal signs of infection
How would you diagnose TB in a child
Mantoux - (false positive with vaccination and false
positive if HIV)
Interferon gamma release assays- not affected by vaccine, but negative in HIV
Can’t do sputum samples under 8yrs- Gastric washings on 3 consecutive mornings before food (NG tube, rinse out with saline)
Urine
Lymph node excision
CSF
CXR
How do you treat active TB in children?
Initial: rifampicin, isoniazid, pyrazinamide, ethambutol for 2 months
Then 4 months: rifampicin and isoniazid
After puberty give pyroxidine with isoniazid to prevent peripheral neuropathy
How would a person with latent TB be detected and how would you treat them?
Positive mantoux test but no symptoms
Rifampicin and isoniazid for 3 months
Which groups are recommended for BCG vaccination at birth?
Asian, African origin
TB family member in last 5 years
Local area high prevalence rate
- do not give to immunocompromised children
How would you treat a child who is a contact of someone that has TB?
Do Mantoux test
If positive - treat for latent TB
If negative - BCG if over 5 yrs old, if under 5, isoniazid and rifampicin for 3 months
How is HIV diagnosed in children?
Before 18 months - IgG HIV from mother is sign of exposure, HIV DNA PCR diagnostic
Over 18 months - HIV antibodies
What is the course of HIV for most children?
Most remain asymptomatic for months or years
Some only identified in adolescence at routine screening
Lymphadenopathy, parotitis, recurrent bacterial infections, candidiasis, chronic diarrhoea, lymphocytic interstitial pneumonitis
Severe - opportunistic infections, failure to thrive, encephalopathy, malignancy
What is the treatment for HIV?
Based upon viral load, CD4 count, clinical status - may start ART
May get co-trimoxazole as prophylaxis for pneumonia
Vaccines - routine except BCG, give influenza, hep A+B, VZV
MDT management
Follow up - monitor neurological signs
How can vertical transmission of HIV be reduced?
Use maternal ART drugs
Avoid breastfeeding
Active management labour and delivery (avoid PROM, unnecessary instruments)
Pre-labour CS if viral load detectable close to time of delivery
What organism causes Lyme disease?
spirochaete Borrelia burgdorferi, transmitted by the hard tick
When is Lyme disease most common?
Summer months in rural settings
What are the typical features of Lyme disease?
After 4-20d, erythematous macule at site of tick bite enlarges (erythema migrans), red outer spreading edge
Fever, headache, malaise, myalgia, arthralgia, lymphadenopathy
Symptoms fluctuate over several weeks, then resolve
Late stage - cranial and peripheral neuropathies, meningoencephalitis, myocarditis, heart block, migratory arthralgia, chronic erosive joint disease mnths-yrs after infection
How is Lyme disease diagnosed?
Clinical features, serology - may be negative early so repeat 2-4 weeks
How is Lyme disease treated?
If over 12 - doxycycline
Under 12 - amoxicillin
If carditis or neuro - IV ceftriaxone
What are the 2 types of immune deficiency in children?
Primary- often X-linked or recessive
Secondary - caused by another disease/treatment e.g. HIV, intercurrent infection, immunosuppressants, splenectomy, nephrotic syndrome
Give the acronym for how to recognise immune deficiency in children
SPUR Severe Prolonged Unusual Recurrent infections (also failure to thrive, lymphadenopathy, splenomegaly)
What are some forms of management for children with immune deficiencies?
Antimicrobial prophylaxis, antibiotic treatment (prompt, appropriate choice, longer courses, lower threshold for IV) Screening for end-organ disease Immunoglobulin replacement Bone marrow transplant Gene therapy
Describe features of congenital rubella
Passed from mother to baby during pregnancy in blood Heart problems Intellectual disability, developmental delay, growth retardation Deafness, eye problems Diabetes Hepato or splenomegaly Skin lesions Bleeding
What is the more common type of meningococcus in the UK?
Men B
What other organisms may cause non-blanching purpuric rash?
Group A strep
Pneumoccocus
Why are childrne more vulnerable to infections at 6 months of age?
Babies can’t make IgM and IgA
Mothers actively transport IgG across placenta in pregnancy
At 6 months, maternal IgG stores in foetus diminish, but not making enough own IgG
How might you test for immune deficiencies?
FBC (WCC, neutrophils, lymphocytes)
IgG, A, M, E
Response to routine imms
Lymphocytes - T, B cells, function
What are the live vaccines that should not be given to immunocompromised children?
BCG
MMR, rotavirus, VZV
What extra vaccinations may be given to special or immunocompromised groups?
VZV
Pneumovax
TB
Influenza
What are the clinical features of whooping cough?
Long inspiratory effort with high pitched “whoop” after cough
Numerous rapid coughs as difficult to expel mucus - thick mucus production
Cyanosis
Vomiting or exhaustion
What are the clinical features of diphtheria?
Thick grey-white coating at back of throat Fever Sore throat Headache Swollen glands Dyspnoea and dysphagia (often travel history)
What treatment would you give for diphtheria?
Penicillin or erythromycin
How is whooping cough treated?
Antibiotics
If under 6 months admit to hospital
What should you always exclude in a child with a fever and travel history?
MALARIA!
If diarrhoea, vomiting and fever - Typhoid
What 3 diseases are all pregnant mothers screened for?
HIV, HepB, Syphilis
If HIV detected early, foetus may not be affected
Transmission HIV is 25% if untreated
What are the common clinical features of scarlet fever?
Fever, sore throat, headache, N+V
Cervical lymphadenopathy
Sandpaper rash on trunk
White coating on tongue, which peels to show strawberry tongue
Flushed cheeks
Small petechiae on hard+soft palate (Forchheimer spots)
Lasts about a week
How is scarlet fever diagnosed?
Clinical findings
Throat swabs - Group A strep
Measure anti-streptolysin antibodies for post-infection complications (acute rheumatic fever, glomerulonephritis)
What is the treatment for scarlet fever?
Amoxicillin 10 days
What is a hypersensitivity?
Objectively reproducible symptoms or signs following exposure to a defined stimulus at a dose which is tolerated by normal people
What is allergy?
Hypersensitivity reaction initiated by specific immunological mechanisms
What is atopy?
Personal and or familial tendency to produce IgE antibodies in response to ordinary exposures (usually proteins). Associated with asthma, allergic rhinitis, conjunctivitiys, eczema and food allergy
What is anaphylaxis?
Serious allergic reaction that is rapid in onset and may cause death
How might allergies be classified?
IgE-mediated
Non-IgE-mediated
What is the course of IgE mediated allergic reactions?
Early phase (within mins) - histamine + mediator release from mast cells - urticaria, angioedema, sneezing, bronchospasm Late phase - 4-6hrs, nasal congestion, cough, bronchospasm
How do non IgE mediated allergic reactions compare to IgE mediated allergic reactions?
Non-IgE-mediated have delayed onset of symptoms and more varied clinical course
What is the allergic march?
Progression of allergies
Infancy - eczema, food allergy
Primary school - allergic rhinitis, conjunctivitis, asthma
Often precedes asthma
What features may suggest a child has an allergy apart from allergic reaction?
Mouth breathing, allergic salute, pale and swollen inferior nasal turbinates
Hyperinflated chest (chronic asthma)
Atopic eczema in limb flexures
Allergic conjunctivitis (Dennie-Morgan folds), blue-grey discoloration below lower eyelids
Faltering growth
What are the most common food allergies in infancy?
Milk, egg, peanuts
What are the most common food allergies in older children?
Peanut
Tree nut
Fish
Shellfish
What is oral allergy syndrome?
Where child develops secondary allergy from allergy to a pollen/protein with a similar shape e.g. birch tree pollen allergy may lead to apple allergy
What are the typical features of non-IgE-mediated food allergy?
Diarrhoea Vomiting Abdo pain, colic Failure to thrive, eczema Proctitis in first few weeks of life may lead to blood in stools
What are the screening tests for IgE-mediated food allergies?
Skin prick tests
RAST test - measures specific IgE antibodies in blood
What are diagnostic tests for non-IgE-mediated food allergies?
Mostly based on clinical picture
If indicated - endoscopic and intestinal biopsies - eosinophillic infiltrates
What are the features of allergic rhinitis?
Conjunctivitis and coryza (rhinoconjunctivitis)
Cough-variant rhinitis - if post-nasal drip
How would you treat allergic rhinitis?
non-sedating antihistamines (topical or systemic)
Topical corticosteroid nasal or eye
Cromoglycate eye drops
Montelukast
Nasal decongestants (no more than 7-10d)
Allergen immunotherapy(sublingual, subcutaneous)
What is angioedema?
Swelling of lower level of skin - lips, eyes, tongue, larynx
What are the features of urticaria?
Urticarial rash upper layers
Possible angioedema if lower layers also swell
What are the features of acute urticaria?
Resolves within 6wks
Triggered by allergies or infection
What are the features of chronic idiopathic urticaria?
Intermittent for at least 6 weeks
Non-allergic in origin usually
Treat 2nd generation non-sedating antihistamines
What causes physical urticaria??
Cold Delayed pressure Heat contact Solar Vibratory urticaria
What are other causes of urticaria?
Water, sweating, exercise-induced
Aspirin and NSAIDs
C1-esterase inhibitor deficiency (angioedema only)
How would you manage anaphylaxis?
ABCDE
IM Adrenaline (every 5 mins until recover)
Oxygen and IV fluids
supportive - SABA, antihistamines, vasopressors, corticosteroids
How would you manage atopic eczema in children under 12?
Mild - emollient, topical corticosteroids
Moderate - same as above + topical calcineurin inhibitors (tacrolimus), bandages and dressings
Severe - same as above + phototherapy, systemic therapy
DO NOT use topical corticosteroids on face and neck
When to the majority of severe mental illnesses start?
Adolescence
Is ASD an environmental disorder?
No, it is a developmental disorder
Give some similarities and differences between AMH and CAMHS
Similarities: both deal with severe mental illness and developmental disorders
Differences: CAMHS much more development and system framework focused, AMH more focussed on medication
What is the triad of symptoms in ASD?
Rituals - routines
Unusual/delayed language - odd/stilted, SLT
Social difficulty - can’t read others emotions, social cues
Why might someone with ASD only be diagnosed when older child or adult?
Developmental disorder always been there but may have been adapted for in previous settings. ASD behaviour may not be that different from young child behaviour, but differences are seen at school etc.W
What is the triad of symptoms for PTSD?
Intrusive sensations/memories/flashbacks
Avoidance
Anxiety
(caused by life-threatening or event threatening integrity of self)
Give the features of ADHD
Affects males more than females
Cannot sustain attention, excessively active, socially disinhibited, easily distracted and impulsive, may be poor at relationships, prone to temper tantrums, poor school performance
How is ADHD managed?
Educational psychologist assessment
Behavioural programmes at school
Parenting intervention
Diet? - reduce caffeine intake, careful with sugar
Medication if necessary - reduce motor activity and improve concentration
(methylphenidate/dexamphetamine - stimulants) or non-stimulants - atomoxetine
What might signify conduct disorder?
Antisocial behaviour that infringes upon rights of others and is so severe that handicaps general functioning - chronically angry, lack of social skills/negotiation
Screen for ADHD and depression
How might you manage conduct disorder?
Parenting groups
Child group-based problem-solving, anger management
Give features of bulimia nervosa
Self-induced vomiting after repeated binges, possible diuretic or laxative use
Can lead to hypokalaemia and alkalosis
Can occur at normal body weight or in association with anorexia
More common than anorexia, and more in older girls
How is bulimia nervosa managed?
At normal body weight - regular diet, monitor with diary, individual or group CBT
How is anorexia nervosa managed?
Refeeding
Family therapy!!
Individual psychological therapy
Give some features of chronic fatigue syndrome
Combination physical and psychological
Myalgic encehalomyelitis (ME) and post-viral fatigue syndrome (Coxsackie B, EBV, hepatitis virus)
Exhaustion on minimal exertion, aching, stomach pain, eye pain, scalp tenderness, tender lymphadenopathy
How is chronic fatigue syndrome managed?
Graded exercise
CBT
Recovery can take months or yrs
How is depression managed in children?
Watchful waiting up to 4 weeks if mild Then supportive or guided self-help Moderate-severe - CAMHS CBT, family therapy, interpersonal therapy If insufficient, try SSRI - fluoxetine Admit to psychiatric unit if suicidal
Give the features of Asperger’s syndrome and what it now falls under in diagnosis?
Asperger syndrome is child with social impairments of ASD but at the milder end, with near-normal speech and development.
Diagnosis no longer separate and under broad ASD diagnosis
How is ASD managed?
Applied Behaviour Analysis (25-30hr individual therapy a week)
Appropriate educational placement
What is development coordination disorder/dyspraxia?
Problems of motor planning and/or execution with no findings on neurological examination
HIgher cortical processing problem - interpretation of seeing and hearing, use of language
common presentations - messy handwriting, difficulty doing up buttons, messy eating
How is dyspraxia managed?
Assessment and advice from OT
SLT if necessary
Visual assessment if helpful
What is dyslexia?
Disorder of reading skills disproportionate to child’s IQ - more than 2 years behind reading age of other children
Assessment - vision, hearing, educational psychologist
What are the names for disorders of calculation or writing skills?
Dyscalculia - calculation
Dysgraphia - writing
Where are lesions for sensorineural and conductive hearing loss?
Sensorineural - cochlea or auditory nerve, usually present at birth
Conductive - ear canal, middle ear, often otitis media or effusion
What is the prevalence of sensorineural hearing loss and how is it managed?
1 in 1000 live births
Irreversible, Management - hearing aids or cochlear implants if hearing aid insufficient
SLT if speech delay, school informed, Makaton signing
Usually mainstream school, but may need to go to deaf school
Which children are more prone to conductive hearing loss?
Chronic otitis media
Down syndrome
Cleft palate
Atopy
How might conductive hearing loss be managed if not transient?
Insertion of grommets (tympanostomy tubes)
Adenoid removal
What are the signs of otitis media?
Ear pain (especially on lying down) Tugging or pulling at ear Difficulty sleeping, crying, tired, miserable Fever Loss of balance Fluid discharge Headache Often after or with a viral URTI
What causes otitis media?
Viral or bacterial infection
Swollen eustachian tubes in children more prone to blockage, keeping fluid in middle ear which can become infected
Swelling of adenoids may also block the eustachian tubes
What is otitis media with effusion?
Fluid build up persisting in middle ear without infection.
Chronic is when fluid build up returns without infection - susceptible to new infections and hearing loss
What is chronic suppurative otitis media?
Ear infection that does not go away with normal treatment. May lead to perforation of eardrum and pus draining from ear
How would you manage otitis media?
Give advice and analgesia to manage fever, wait and see for 3 days
If perforated eardrum +discharge or bilateral under 2yrs - antibiotic straight away
If not resolved after 3 days, give antibiotics
= amoxicillin 7d or clarithromycin 7d
What are the features of otitis externa?
Pain and swelling in ear canal (swimmer’s ear)
Red ear canal
Discharge of liquid or pus from ear
Temporary hearing loss
How would you manage otitis externa?
Cleansing - usually resolves
Corticosteroid ear drops or aluminium acetate solution
Chloramphenicol ear drops
Oral antibiotics if spreading cellulitic infection/unwell
What is mastoiditis?
Serious bacterial infection of bony process behind ear
Presents with - pain, redness, swelling behind ear, discharge from ear, fever, miserable, tired, headache, hearing loss in affected ear
How is mastoiditis managed?
Refer to ENT specialist
Antibiotic treatment - possibly IV
Bloods and ear culture
Surgery - myringotomy (drain middle ear) or remove part of mastoid bone (mastoidectomy)
What are the potential complications of mastoiditis?
Hearing loss
Meningitis
Blood clot
Brain abscess
Give some epidemilogical features of self-harm in children
10% will self-harm
Female to male ratio 4:1
Highest in levels of poverty
3rd most common cause of death in adolescents worldwide
What treatments might you offer for children that are self-harming?
Find cause and act on it e.g. bullying, depression
Coping/distraction strategies
Tell parents and help them to develop a plan
If severe - inpatient admission
If parents unable to work to protect child - social care
Give the features of Cavernous haemangioma and its alternative name
Strawberry mark
Not present at birth but develops a few days later, very common, not to worry!
Collection of dilated blood vessels - benign vascular tumour
Usually disappear by 18 months
If get enormous, can lead to DIC
How would you treat haemangiomas if they are in an awkward place or keep growing?
Beta blockers
What are some side effects of long-term beta blocker use for children?
hypoglycaemia
bradycardia
Reduced vascular development of brain so longer
What is another name for a port wine stain birthmark? What are its features?
Capillary haemangioma
Present at birth, doesn’t go away
Dark red, purple discolouration irregular outline on face
What is another name for a mole? What are its features?
Also called naevus
Dark spot. Turners syndrome have lots of them but normal too.
Only harmful if sun damage and become cancerous
What are mongolian blue spots?
Bruise-like spots, common in children with darker skin
Remains throughout life and normal
What is a cafe au lait spot?
coffee-coloured patches
Normal if small size and small amounts
If more than 5 over 5mm in children or over 15mm in adolescents - could be neurofibromatosis
What are yellowish spots on the nose of a baby that’s just been born?
Milia (milk spots)
Normal and disappear after a few weeks
What are the features of erythema toxicum neonatorum?
Spots surrounded by red area on newborn - normal and common in neonates
check child is well - otherwise could be a staph infection
What does CCCK stand for in measles? What are typical features of rash?
Cough, Coryza, Conjunctivitis, Koplik spots
Angry rash, often includes mouth and eyes
Maculopapular rash, then becomes blotchy and confluent. Desquamates in 2nd week
Describe the rash in rubella
Starts on face and spreads
Vague, lacy, ill-defined, not itchy
What virus causes hand, foot and mouth disease? What are the features of this disease?
Coxsackie virus
Sore throat, then mouth ulcers, tender red lumps on hand and feet which can blister
Clears in 7-10 days
What is another name for exanthem subitem? What virus causes it? What are the rash features?
Roseola infantum
HHV6
Non-specific rash which usually appears as child gets better from fever, headache, miserable, possible convulsions
What causes eczema herpeticum? What are the problems with this and how should it be treated?
HSV
Can be disfiguring, and dangerous especially if in eyes
Acyclovir or prophylactic acyclovir if immunocompromised
Give the features of molluscum contagiosum
Small raised papules on skin with small dimple in the middle
Spreads across body, often armpit, knee, groin
Resolves up to 2 years time on own
Virus = mollucscum contagiosum virus (MCV)
How might warts be treated? What is the causative organism
Topical podophyllum or cryotherapy
HPV
What investigations might you do if there is a large red swelling on a child’s neck? How would you treat?
Bloods USS - to find infection centre If abscess - drain Cellulitis - antibiotics Lymphadenitis - find cause
How might you treat scalded skin syndrome?
Blood MC+S
Differentiate between staph and strep or treat both of these
Flucloxacillin, cephalosporin or Clindamycin may be used
Give the features of the rash in HSP
Similar to meningococcal septicaemia in appearance
Non-blanching purple rash
Over buttocks and lower limbs (extensor surface)
May be associated with joint and abdominal pain
What investigations might you do in a child presenting with HSP?
Check blood pressure
Urinalysis
To check kidney disease (haematuria or proteinuria)
What is the main causative organism of erysipelas?
Group a beta haemolytic strep (S.pyogenes)
Can also get staph
How does erysipelas vary from cellulitis (which is mostly staph)
Erysipelas is infection of upper dermis layer, whereas cellulitis is infection of lower layers
Erysipelas (aka St Anthony’s fire) - intense rash, raised edge, bright edge, swollen, can blister
What are the main childhood infections predominantly caused by Group A strep?
Tonsilitis - can lead to glomerulonephritis
Scalded skin syndrome
Erysipelas
Scarlet fever
What is acanthosis nigrans?
Darkening rash common in axilla or back of neck
Found in minority ethnicities and in diabetes
What is the name for a fungating mass on a child’s head that weeps and has surrounding hair loss?
What is causative agent?
Tinea capitis
If in other areas would be called tinea…then body part
Caused by RINGWORM
How would you treat tinea capitis, or other ringwom infections?
Oral anti-fungal (Griseofulvin 6-8wks)
What are the typical features of nappy rash?
Irritant dermatitis/ammoniacal nappy rash
Red Rash - CREASES SPARED
Affects convex surface of buttocks, perineum, lower abdomen and top of thighs
How would you treat nappy rash?
Mild - emollient
Severe - mild topical corticosteroid
If candida complication - topical antifungal agent e.g. clotrimazole
How might you spot candida infection in nappy rash?
Erythematous rash which INCLUDES skin flexures
Satellite lesions
Where else might babies commonly get candida? How would you treat?
Mouth and mother’s nipples - oral thrush
Miconazole gel
What are the symptoms of congenital toxoplasmosis?
Microcephaly
Low birthweight
Retinal lesions
Seizures
How might you reduce nits and lice in children’s hair?
Hair conditioner - leave it on, repeat every few days for a few weeks
What are the features of Scabies infection?
Tiny mites burrow into skin
Silver lines from fingers where entered body
ITCHING
Extensive red rash with tiny spots - apart from head
Often a sign of poor hygiene, possible neglect!
How do you treat scabies?
Permethrin cream or malathion lotion over whole body
Repeat treatment after 1 week
Treat whole family/household twice too
What is a torn frenulum a typical sign of?
Force-feeding with spoon/bottle
What is Frey’s syndrome?
Redness over side of face during breast-feeding in forceps delivered babies
Type of urticaria
What distribution of rashes should be suspicious of abuse?
Symmetrical, linear
Unusual presentation, unexplained
Look for bruising, petechiae to understand mechanism of injury
When should you suspect NAI?
Injury in a child that is non-mobile
Bruising on soft tissues, bum, head and neck, backs of legs and back
Recurrent fractures
Inconsistent history
What are the different type of disorders under paediatric haematology?
Anaemia - iron deficiency, haemolytic
Bone marrow failure
Bleeding disorders
Thrombosis in children
When is the trough of Hb in babies? Why?
around 8 weeks - foetal Hb has fallen, takes a while for adult Hb production to compensate
What are is mean cell volume like after birth?
High after birth, then falls over time
How does the proportion of white cells vary between babies, toddlers and adults?
Babies - HIGH WCC, neutrophils>lymphocytes
Toddlers - lymphocytes>neutrophils
Adults - neutrophils>lymphocytes
What are the branches of leukocytes?
Agranulocytes - lymphocytes, monocytes
Granulocytes - neutrophils, basophils, eosinophils
What other end products from bone marrow production apart from leukocytes?
erythrocytes
thrombocytes
What stimulates bone marrow to produce RBC?
erythropoietin from the kidneys
How would you check if anaemia is due to loss/destruction of RBC or decreased RBC production?
Reticulocyte count
Loss/destruction = HIGH
Decreased production = LOW or NORMAL
How do RBCs appear on blood smear in iron deficiency anaemia?
Microcytic and hypochromic
What might cause normocytic anaemia?
Acute blood loss
Renal failure
Chronic inflammation
Erythroblastocytopenia of childhood
What might cause macrocytic anaemia?
B12 and folate deficiency (unusual in children unless vegan)
Hypothyroidism
Bone marrow failure
What are other causes of microcytic anaemia?
Iron deficiency - most common UK
Thalassaemia
Sideroblastic anaemia - heavy metal poisoning
Anaemia of chronic disease
Give examples of causes of loss of RBC that can cause anaemia
Bleeding
Burns
Splenomegaly
(often have low platelet and WCC too)
What investigations might suggest haemolytic anaemia?
Unconjugated bilirubin - high
LDH (lactate dehydrogenase) - high
Blood film - abnormal appearance of cells
Urinary urobilinogen
Positive Coomb’s test if immune-mediated
High reticulocyte count and precursors in bone marrow
What are two mechanisms of haemolysis of RBC?
Intrinsic - problem with membrane or enzyme
Extrinsic - immune mediated, drugs, mechanical in clotting, DIC, HUS, TTP, malaria
What is a membrane disorder of RBC than can lead to intrinsic haemolytic anaemia?
Hereditary Spherocytosis
What is the inheritance pattern of hereditary spherocytosis?
Autosomal dominant (occurs in Caucasians) May be no family history in 25% as is caused by new mutations
What is the pathophysiology of hereditary spherocytosis?
Mutation in genes for red cell membrane proteins (spectrin, ankyrin, band 3)
Red cell loses membrane when passes through spleen, loss of SA and become spheroidal
Less deformable and so are destroyed in the spleen
What are the clinical features of hereditary spherocytosis?
Jaundice
Anaemia
Splenomegaly
Aplastic crisis (transient 2-4wks due to parvovirusB19)
Gallstones - due to increased bilirubin excretion
How is hereditary spherocytosis diagnosed?
Blood film - spheroidal cells
Coomb’s test - to exclude autoimmune haemolytic anaemia which has spherocytes when absence of FH
How is hereditary spherocytosis managed?
Mild - oral folic acid
Splenectomy if severe and over 7yrs, prior to splenectomy have vaccines - Hib, MenC, S.pneumoniae AND oral penicillin daily
Cholecystectomy if gallstones
Aplastic crisis - 1-2 blood transfusions over 3-4wks
What is the commonest enzyme disorder causing intrinsic haemolytic anaemia?
Glucose-6-phosphate dehydrogenase deficiency
G6PD
What is the inheritance pattern like for G6PD?
Commoner in Central Africa (10-15% enzyme activity), Mediterranean, Middle East and Far East (very low)
X-linked recessive (predominantly in boys)
Females can be affected but very rare!!
What is the pathophysiology of G6PD?
Deficiency in G6PD which is rate-limiting enzyme in pentose phosphate pathway
Essential for preventing RBC from oxidative damage - leads to haemolysis
Haemolysis predominantly intravascular so causes fever, malaise, dark urine, rapid fall in Hb
What are the clinical features of G6PD?
Neonatal jaundice - first 3 days of life, commonest cause of severe neonatal jaundice worldwide
Acute haemolysis - infection, drugs, fava beans, mothballs (naphthalene)
Can get chronic haemolysis
How is G6PD diagnosed?
Usually normal between episodes
Measure G6PD activity in RBC (can be falsely raised in haemolytic crisis)
Blood film - blister cells, bite cells, Heinz bodies
How is G6PD managed?
Give advice about triggers of crises - antimalarials, sulphonamides, quinolones, nitrofurantoin, high dose aspirin, naphthalene, divicine (fava beans)
Transfusions rarely required even in crises
Why is iron deficiency anaemia more common in children?
Poor intake, especially if breastfeed for long time or cow’s milk, fussy eaters
Increased requirement - growth and more infections
70% iron comes from recycled RBC, 30% from diet (95%, 5% in adults)
What are the clinical features of iron deficiency anaemia?
Start asymptomatic until below 6-7 Hb
Fatigue, malaise
Pallor of conjunctivae, tongue, palmar creases
Pica - inappropriate eating of non-foods
Ask about blood loss or signs of malabsorption
Risk of intellectual and behavioural impairment if iron deficiency prolonged
What are the diagnostic cues for iron deficiency anaemia?
Microcytic, hypochromic anaemia
Low MCV and Low MCH
Low serum ferritin and high TBC
How is iron deficiency anaemia managed?
Dietary advice
Oral iron supplements (Sytron or Niferex) until Hb normal + 3 months more
If suspect non-dietary cause - investigate malabsorption (coeliac) or chronic blood loss
How would you treat iron deficiency with normal Hb?
Low serum ferritin but no anaemia
Dietary advice to increase oral iron intake and absorption
Supplements controversial - offer as option
What are 3 causes of red cell aplasia?
Congenital red cell aplasia - Diamond-Blackfan anaemia
Transient erythroblastopenia of childhood
Parvovirus B19 infection (only causes red cell aplasia if also have haemolytic anaemia)
What are the diagnostic cues of red cell aplasia?
Low reticulocyte count
Abnormal red cell precursors on bone marrow
Normal bilirubin
Negative direct antiglobulin test (Coombs test)
What are the most common haemoglobinopathies worldwide?
Sickle Cell Disease
Beta Thalassaemia
What chains compose:
a) normal adult Hb? (HbA)
b) foetal Hb? (HbF)
c) HbA2?
a) 2 alpha, 2 beta
b) 2 alpha, 2 gamma
c) 2 alpha, 2 delta
What composition of Hb is in a normal adult or child?
Mostly HbA, a little HbF and some HbA2
What is the pathophysiology of sickle cell disease?
Mutation in codon 6 BETA globin chain (glutamine switches to valine). HbS polymerises to form tubular spiral, deforming cells into sickle shape. Reduces lifespan and trapped in microcirculation
What is the inheritance pattern of sickle cell disease?
Autosomal recessive
African-Carribean or Middle East origins more common
What alleles cause sickle cell anaemia?
HbSS - homozygous for HbS, sickle mutation in both beta globin chains
Small amount HbF
NO HbA
What are the features of HbSC?
Inherit HbS from one parent and HbC from another
HbC (different point mutation in beta globin chain)
Small amounts HbF
NO HbA as no normal beta globin chain
What are the features of Sickle-thalassaemia?
Inherit HbS from one parent, and beta thalassaemia from another
No normal beta globin chains so no HbA
Similar symptoms to sickle cell anaemia
What are the features of sickle trait?
HbS one parent, normal beta globin other
Can make both HbS (40%) and HbA
No disease but are carriers
Asymptomatic unless under low oxygen tension
What are the clinical features of sickle cell disease?
Anaemia, jaundice
Infections - hyposplenism due to microinfarction
Painful crises - vaso-occlusion
Acute anaemia - haemolytic, aplastic, sequestration spleen/liver
Priapism - exchange transfusion needed
Splenomegaly
What are some long-term problems for those with sickle cell disease?
Short stature/delayed puberty Stroke and cognitive problems Adenotonsillar hypertrophy - sleep apnoea, nocturnal hypoxaemia, crises and stroke Cardiac enlargement, HF - due to anaemia Renal dysfunction- enuresis Pigment gallstones - increase bile pigment Leg ulcers Psychosocial problems - time off school
What different types of painful crises in SCD can occur?
Hand-foot syndrome - dactylitis
Bone and limb pain
Acute chest syndrome - severe hypoxia, mechanical ventilation and transfusion
Avascular necrosis of femoral heads
Precipitated by cold, dehydration, excessive exercise or stress, hypoxia or infection
What occurs in sequestration crises in SCD?
Hepato or splenomegaly
Abdominal pain
Circulatory collapse
Sequestration of sickled cells in spleen
How would you treat acute crises in SCD?
Oral or IV analgesia
Oral or IV fluids
Treat infections with antibiotics if appropriate
Oxygen if oxygen sats reduced
Exchange transfusion - acute chest syndrome, strokes, priapism
How would you treat chronic problems with SCD?
If recurrent hospital admissions for vaso-occlusive crises, give HYDROXYUREA, which increases HbF to protect against further crises.
Monitor for SEs, e.g. decreased WCC
Bone marrow transplant in severely affected
What is the screening process for SCD?
Guthrie test or chorionic villus sampling end of 1st trimester
Early diagnosis - penicilllin prophylaxis in early infancy
What are the features of SC disease?
Nearly normal Hb level and fewer painful crises than HbSS
May develop proliferative retinopathy in adolescence - check eyes
Osteonecrosis of hips and shoulders
What ethnicities are more prone to beta thalassaemia?
India, Middle East and Mediterranean
What are the 2 types of beta thalassaemia and what are their differences?
B thalassaemia major - severe, HbA cannot be produced due to abnormal beta globin chain mutation
B thalassaemia intermedia - milder/varies, B globin mutation allows small amount of HbA and/or large amount of HbF to be produced
What are the clinical features of beta thalassaemia?
Severe anaemia - transfusion dependent from 3-6 months of age
Jaundice
Failure to thrive
Extramedullary haematopoiesis - hepatomegaly, splenomegaly, bone marrow expansion (maxillary overgrowth and skull bossing) - preventable by transfusions
How is beta thalassaemia managed?
Regular blood transfusions (aim to keep Hb> 10)
Iron chelation - for iron overload risk with repeated blood transfusions
Major - may have bone marrow transplant
What is the inheritance pattern for beta thalassaemia?
How is b thalassaemia screened for?
Autosomal recessive
All pregnant women offered screening test, if high risk can have CVS to diagnose antenatally
What are the features of being a beta thalassaemia carrier/ B thalassaemia trait?
Usually asymptomatic but have hypochromic and microcytic RBC - mild anaemia
Diagnostic features - raised HbA2, some have high HbF
If have iron deficiency - may have confusion - check serum ferritin to decide if require iron supplements
Give the different types of alpha thalassaemia
A thalassaemia major (Hb Barts hydrops fetalis)
HbH disease
A thalassaemia trait
What occurs in alpha thalassaemia major?
South-East Asian origin
All 4 A globin chain genes are deleted - no HbA - fetal hydrops mid-trimester, fatal in utero or within hrs of delivery
Survivors - receive monthly intrauterine transfusions and continue after birth
Diagnosis = Hb electrophoresis to see Hb Barts
What occurs in HbH disease?
3 alpha globin chains are deleted
Mild-moderate anaemia
Some are transfusion-dependent
What occurs in alpha thalassaemia trait?
1 or 2 alpha globin chains deleted
Asymptomatic, or mild/absent anaemia
RBC may be hypochromic or microcytic - can cause confusion with iron deficiency
What types of pathology can cause haemolytic anaemia in the newborn?
- Immune-mediated (haemolytic anaemia of newborn)
- Red cell membrane disorders
- Red cell enzyme disorders
- Haemoglobinopathies
What are the diagnostic cues of haemolytic anaemia?
High reticulocyte count
Unconjugated bilirubinaemia
What causes immune-mediated haemolytic anaemia of the newborn?
Antibodies against blood group antigens
1. ABO (anti-A, anti-B)
2. Rhesus D
3. anti-Kell
Mother always negative for the antigen and baby is always positive
Mother makes Abs against baby’s blood - cross placenta into baby’s circulation causing haemolytic anaemia
What is the diagnostic test for immune-mediated (blood group) haemolytic anaemia?
Coomb’s test (direct antiglobulin test)
Why do haemoglobinopathies rarely present in the neonatal stage?
Neonates still have high levels of HbF to compensate for lack of HbA. Only when HbF falls, do they have to rely on HbA which is not properly formed
What are the main causes of blood loss on foetuses/neonates?
Feto-maternal haemorrhage (bleeds into mother)
Twin-to-twin transfusion (bleeding from one twin to the other)
Blood loss at delivery (e.g. placental abruption)
What causes anaemia of prematurity?
Inadequate EPO production
Reduced red cell lifespan
Frequent blood sampling while in hospital
Iron and folic acid deficiency (after 2-3 mnths)
What are the features of aplastic anaemias?
What can cause acquired aplastic anaemia?
Features - anaemia (RBC), Infection (WCC) and bruising/bleeding (platelets)
Acquired- hepatitis virus, drugs (sulphonamides, chemo), toxins (benzene, glue), idiopathic
Give the names of two inherited aplastic anaemias
Fanconi anaemia
Shwachman-Diamond syndrome
Give the features of Fanconi anaemia
Autosomal recessive
Congenital abnormalities - short, abnormal radii + thumbs, renal malformations, microphthalmia, pigmented skin lesions
Bone marrow failure not usually apparent until 5-6yrs, high risk of death or acute leukaemia
Diagnosis - increased chromosomal breakage of peripheral blood lymphocytes
Treatment - bone marrow transplantation
Give some acquired causes of bleeding disorders
Vit K deficiency
Liver damage/failure
Thrombocytopenia - immune, DIC
Give some inherited causes of bleeding disorders
Haemophilia A
Haemophilia B
Von Willebrand disease (vWD)
What is the inheritance pattern for Haemophilia A and B?
X-linked recessive
What factors are deficient in
a) haemophilia A?
b) haemophilia B?
a) Factor VIII
b) Factor IX
What are the results for PT and APTT like in haemophilia?
PT - normal
APTT - raised
What are the clinical features of haemophilia?
graded severe, moderate, mild depending on FVIII/IX:C
Recurrent spontaneous bleeding into joints and muscles - crippling arthritis
Presents 1 yr when starting to walk
40% neonatally - intracranial haemorrhage, post-circumcision bleeding, prolonged oozing from Guthrie’s or venepuncture
What is the management for Haemophilia A and B?
MDT approach
Recombinant FVIII or IX concentrate - IV infusion wherever there is bleeding
Avoid IM injections, NSAIDs
Prophylactic FVIII from 2-3 yrs 2-3x/week
or if mild Haemophilia A, Desmopressin (stimulates FVIII and vWF)
What is the inheritance pattern of Von Willebrand Disease?
Autosomal dominant (usually)
What is the pathophysiology of vWD?
Qualitative or quantitative deficiency vWF - vWF facilitates platelet adhesion to endothelium and is carrier protein for FVIII vWD also have deficiency in FVIII Type 1 (commonest) is mild and often not diagnosed until puberty or adulthood
What are the clinical features of vWD?
Bruising Excessive or prolonged bleeding after surgery Mucosal bleeding (epistaxis and menorrhagia)
What is the management of vWD?
Type 1 - Desmopressin, beware hyponatraemia
Severe types - plasma-derived FVIII concentrate
Avoid IM injections, NSAIDs, aspirin
What is the commonest cause of thrombocytopenia in childhood?
Immune thrombocytopenia
Destruction of platelets by anti-platelet IgG, but increased megakaryocytes in bone marrow to compensate
What are the clinical features of Immune thrombocytopenia?
2-10 yrs, often 1-2wks post-viral
petechiae, bruising, purpura, epistaxis, mucosal bleeding
Intracranial bleeding serious but rare
How is immune thrombocytopenia diagnosed?
by exclusion
Rule out inherited conditions, bone marrow examination to rule out ALL before starting steroids
How is ITP managed?
80% self-limiting, often managed at home
If major bleeding or affecting daily life - oral prednisolone, IV anti-D, IV IgG
Platelet therapy only for acute life-threatening bleeds
No contact sports while platelet count low
Chronic ITP - supportive, Rituximab, screen SLE, splenectomy
What is the pathophysiology of disseminated intravascular coagulation?
Coagulation pathway activation - diffuse fibrin deposition in microvasculature and consumtion of coagulation factors and platelets
Causes - severe sepsis/shock
Acute or chronic
What are the clinical features of DIC?
Bruising, purpura, haemorrhage
Microvascular thrombosis, purpura fulminans
thrombocytopenia, prolonged PT and APTT, low fibrinogen, raised FDP, D-dimers
Marked reduction anticoagulants, proteins C,S, antithrombin
What is the management of DIC?
Treat underlying cause, intensive care
Supportive care - Fresh frozen plasma, cryoprecipitate and platelets
Anti-thrombin and protein C concentrates in meningococcal septicaemia with purpura fulminans
What are some congenital prothrombotic disorders?
Protein S deficiency Protein C deficiency Antithrombin deficiency Factor V Leiden Prothrombin Gene mutation
What are acquired thrombotic disorders?
Catheter-related thrombosis DIC Hypernatraemia Polycythaemia Malignancy SLE
What is the commonest cause of thrombocytopenia?
Idiopathic thrombocytopenic purpura
What leukaemias are most common in children?
Acute Lymphoblastic Leukaemia
Then
Acute Myeloid Leukaemia
What is the cause of malignancy in ALL?
White blood cells - multiply out of control
What are the clinical features of ALL?
Peak = 4-7yrs
Infiltration WCC - splenomegaly, hepatomegaly, lymphadenopathy
Bone marrow failure - anaemia, thrombocytopenia, increased risk of infection
What is the prognosis for ALL?
> 90% survive
Majority cured with chemo (girls 2yrs, boys 3yrs)
If not, then bone marrow transplant can treat
Good factors - female, 2-10yrs, WCC<50, no CNS disease
What is the prognosis for AML?
> 70% long term survival
What might be some late effects of cancer treatment/chemotherapy?
Psychological, Family and Social School achievement Organ dysfunction Second malignancy Fertility Endocrine/puberty
Give 2 definitoins of faltering grwoth
- Failure to gain adequate weight or achieve adequate growth during infancy or early childhood
- Significant interruption in expected growth rate compared with other children of similar age and sex during early childhood
What are the thresholds for faltering growth depending on birth weight?
<9th centile: Fall across 1 or more centiles
9-91st centile: fall across 2 or more centiles
over 91st centile: fall across 3 or more centiles
<2nd centile for age (regardless of BW)
How often should you check weight and height if concerned about growth?
<1 mnth = daily
1-6mnth = weekly
6-12mnths = every 2 weeks
>1yr = monthly
What normally happens to weight in neonates?
Lose weight in first 3-4 days (up to 10%)
Usually regain to birth weight by 3 weeks of age
How would you assess a child that has lost more than 10% birthweight in first few days of life?
Clinical assessment, development, social
Detailed history of feeding, and observe feeding
Further investigations if needed
Provide feeding support
Monitor height/weight against mid-parental centiles (if more than 2 centiles below mid-parental, may have undernutrition or primary growth disorder)
How would you assess faltering growth in a child over 2 years old?
BMI
<2nd centile = undernutrition or small build
<0.4th centile = undernutrition that needs assessment
What are physical risk factors for faltering growth?
Prematurity Neurodevelopmental concerns GORD Low birth weight Poor oral health, dental caries Tongue-tie Congenital abnormalities - Down's, cerebral palsy
What are psychological risk factors for faltering growth?
Disordered feeding techniques Family stressors Parental/family abuse/violence Post-partum depression/anxiety Poverty
Give some examples of causes of poor dietary intake in children, leading to faltering growth
Ineffective suckling/bottle-feeding Problematic feeding patterns/routines Feeding environment Parent/carer interactions Physical disorders affecting feeding
How might you manage poor feeding?
MDT Dietitian with food diary, calorie intake diary Advice in feeding and eating behaviours NG or NJ tubes if serious concerns If NG-dependent, may have gastrostomy
Why do babies have more GORD than children or adults?
Oesophageal sphincter does not close fully
Unpleasant feeling, can lead to feed refusal/oral aversion later
What might cause malabsorption in a young child?
Anaemia Biliary atresia Coeliac disease chronic GI condition, gastroenteritis CF Inherited metabolic disorder Cow's milk protein allergy Pancreatic cholestatic conditions
How would you diagnose coeliac disease?
Gluten-containing diet for 6 weeks, then total serum IgA and transglutaminase-2 IgA (TGA-IgA)
If TGA-IgA >10x normal and family history, can diagnose if endomysial Abs positive in 2nd blood test
If not, do endoscopy, small bowel biopsy - villous atrophy, crypt hyperplasia
Extra - HLA DQ2-/DQ8
What are the different causes of gastroenteritis?
Bacterial e.g. campylobacter
Enterovirus - e.g. coxsackie
Parasitic e.g. Giardia
Other e.g. post-infective, mucosal inflammation, secondary dissacharide deficiency
What is Toddler’s diarrhoea?
Commonest cause of chronic diarrhoea in children aged 1-5yrs. Usually resolves after this age
Loose, frequent stools, thought to be due to fast transit time
Mx: Fat, Fluids, Fruit juice/fruit. Fibre, potty training
What symptoms do you get with cow’s milk protein allergy?
Failure to thrive
Vomiting
GORD
Colitis - Bloody stools and diarrhoea
What might cause XS use of energy leading to failure to thrive?
Chronic infections Chronic lung disease of prematurity Hyperthyroidism Congenital heart disease Inflammatory conditions Malignancy Renal failure Growth hormone problems Psychosocial
What psychological disorder may lead to undernutrition and faltering growth?
Avoidant or Restrictive Food Intake Disorder (ARFID)
- dependence on nutritiional supplements
- affects day to day life
What condition may show an aphthous ulcer on ileo-caecal valve?
Crohn’s
What are the 4 branches of a development assessment?
Gross Motor
Fine Motor and Vision
Speech, Language and Hearing
Social and Self-Care
Give some examples of primitive reflexes
Moro Grasp Rooting - head turns to stimulus when touched near mouth Stepping response Asymmetrical tonic neck reflex (Galant)
Give some postural reflexes
Labrynthine righting - head moves opposite to direction body is tilted
Postural support (legs push on floor when held vertically to support weight)
Lateral propping - arms extend to side child falls when sitting
Parachute - suspended face down, arms extend downwards
By what age should primitive reflexes disappear?
6 months
What would be considered a global development impairment?
Delay in more than 2 domains
What are the gross motor milestones at
a) newborn
b) 6-8wks
c) 6 months
d) 9 months
e) 1 year
f) 2 years
g) 3 years
h) 4 years
i) 5 years
a) limbs flexed, symmetrical, head lag on pulling up
b) raises head to 45 degrees in prone position
c) sits without support, rolls, chest up with arm support if prone
d) pulls to stand, crawling
e) walks unsteadily, broad gait, hands apart
f) walks up steps
g) jumps
h) hops
i) ride a bike
What are fine motor milestones at
a) 4-6 months
b) 8 months
c) 10-12 months
d) 18 months
e) 2-5yrs
a) reaches out for toys, palmar grasp uses both hands
b) transfers toys from one hand to other
c) mature pincer grip, scribbles with crayon
d) scribbles with crayon, tower of 8 blocks
e) tower of blocks, draw without seeing how it’s done e.g. line, circle, cross, square, triangle
What are the speech and hearing milestones at
a) 3 months
b) 9 months
c) 12 months
d) 18 months
e) 2yrs
f) 3 yrs
a) laugh and squeal, coos
b) turns to soft sounds out of sight, “dada”, “mama”
c) 2-3 words other than mama, dada
d) 6-10 words, shows 2 parts of body
e) 2 word sentences, simple phrases
f) Talks in 3-4 word sentences
What are the social or self-care milestones at
a) 6 wks
b) 6 months
c) 9 months
d) 12 months
e) 2 years
f) 3 yrs
g) 4yrs
a) smiles responsively
b) feeds self using finger
c) waves bye
d) uses spoon/fork, drinks from cup with 2hands
e) symbolic play, help to dress self
f) name friends, interactive play, partly dress self
g) dress without help, play board games
When are assessments done as part of the Healthy Child Programme?
Newborn examination- within 72hrs 14 days old - new baby review 6-8 wks examination 1 yr old 2-2.5yrs old
What are some concerning development signs for gross motor development?
Not sitting without support by 1 year
Not walking by 18 months - check CK for muscular dystrophy
What are some concerning development signs for fine motor?
Hand preference before 18 months - possible cerebral palsy
What are some concerning development signs for speech and hearing?
No clear words by 18 months - e.g.glue ear, hearing loss, learning disability
What are some concerning social development signs?
No smiling by 3 months - vision impairment?
no response to carers interactions by 8 wks
No interest in playing with peers by 3 years
- autism, learning disability?
What are some red flags in child development?
Regression Poor health Dysmorphic features Signs of abuse Significant family history Always find out about birth history - premature babies tend to have developmental delay
What limits characterise mild, moderate and severe global developement impairment?
Mild - <33% below chronological age
Moderate - 34-55% below chronical age
Severe >66% below chronological age
What are some clinical features of muscular dystrophy?
Possible microcephaly
Sloping forehead, posture, gait
Gower’s sign - longer to stand from sitting on floor (hip girdle weakness)
What type of dysmorphic features may present in Down’s syndrome?
Brachycephaly - flat back of head. Also can have flat faces Slanted eyes Poor tone Flat nasal bridge Single palmar crease Protruding tongue, small mouth Small ears White spots on iris Short fingers, short neck, small head
What are the clinical features of Neurofibromatosis type 1 (NF1)
Autosomal dominant
6 or more cafe au lait spots >5mm, or >15 mm after puberty
More than one neurofibroma (nodular overgrowth of any nerve), more obvious after puberty
Axillary freckles
Optic glioma - visual impairment
One Lisch nodule - hamartoma of iris, slit-lamp exam
Eye protrusion - sphenoid dysplasia
First degree relative with NF1
What are the predominant features of NF2?
bilateral acoustic neuromata - deafness
Cerebellopontine angle syndrome - facial nerve paresis
Both NF1 and NF2 associated with multiple endocrine neoplasia (MEN) syndromes
What are the non-neurological features of Tuberous sclerosis?
Ash-leaf shaped patch which fluoresce under UV
Shagreen patches - roughened skin lumbar spine
Adenoma sebaceum (angiofibromata) in butterfly distribution over bridge of nose
fibromata beneath nails
Dense white areas on retina (phakomata)
Rhabdomyomata of heart
Polycystic kidneys
What are neurological features of Tuberous sclerosis?
Infantile spasms
Developmental delay
Epilepsy - often focal
Intellectual impairment
What does a port-wine stain in the ophthalmic distribution suggest?
Sturge-Weber syndrome
What investigation is done to identify Sturge-Weber syndrome and what are its neurological features?
XR = calcification of gyri “rail road track” but use MRI instead now!
Neuro - epilepsy, learning disability, hemiplegia, glaucoma risk
What are the features of Williams syndrome?
7q11.23 microdeletion
Fish-shaped mouth
Jovial personality - popular at start of school, then start to have processing difficulties when older and less popular
Supravalvular aortic stenosis, peripheral pulmonary artery stenosis
How are Prader-Willi and Angelman syndrome related?
Both are due to abnormalities in chromosome 15, q11-13
Prader-Willi is paternal chromosome
Angelman syndrome is maternal chromosome
What are the features of Prader-Willi syndrome?
Hypotonia
Developmental delay
Hyperphagia
Obesity
What are the features of Angelman syndrome?
Severe cognitive impairment Ataxia Epilepsy Pointed chin, wide teeth, protruding tongue, deep set eyes "happy puppet syndrome"
What is a de novo deletion?
Parental chromosomes are normal and deletion occurs as a new mutation in the child
What is uniparental disomy?
Both chromosomes inherited but from one parent only
What are the features of Smith-Magenis syndrome?
Aggressive behaviour, no dysmorphic features
Often taken to CAMHS instead of genetic testing
What are features of Rett syndrome?
Normal until 9-10months
Acute regression, poor hand movements and epileptic seizures
What features can be seen in opsoclonus myoclonus syndrome and what differential must you consider?
Upward fluttering eye movements
Associated with neuroblastoma - do catecholamine urine test and CT scan
What are typical features of tic disorders?
Head goes back, eyes roll and flutter involuntarily but remain conscious
What are the features of shuddering attacks?
Benign, non-epileptic attacks usually in infancy
Resolve after 2 years
What features do you get in Horner’s syndrome?
unilateral ptosis, miosis, anhidrosis, anophthalmos
Problem with autonomic nervous system
Find if pre-ganglionic or post-ganglionic as treatment differs
What is a febrile seizure?
Seizure accompanied by a fever in the absence of intracranial infection due to bacterial meningitis or viral encephalitis
- occurs between 6 months and 5yrs, often genetic predisposition
Give some common features of febrile seizure
Usually occurs when fever rising rapidly
Generalised tonic-clonic seizures, brief
Simple febrile seizures do not cause brain damage or increase risk of epilepsy
Complex febrile seizures (focal, prolonged, repeated) are at increased risk of epilepsy
What should be the acute management of a febrile seizure?
Find underlying cause - usually viral but check for signs of bacterial meningitis
If under 18 months, screen for infection (blood cultures, urine culture, LP)
NO LP if child unconscious or cardiac abnormality
If prolonged seizure - rectal diazepam or buccal midazolam
What are the causes of paroxysmal disorders?
Breath-holding attacks
Reflex anoxic seizures (head trauma, pain, cold food)
Syncope
Migraine
Benign paroxysmal vertigo
Cardiac arrhythmia, tics, daydreaming, night terrors, self-gratification, NES, fabricated, induced illness, hypoglycaemia, paroxysmal movement disorders
What occurs in atonic seizures?
Generalised seizure, myoclonic jerk followed by transient loss of muscle tone causing sudden fall to floor or drop of the head
What type of epileptic seizure occurs in 4-6 months?
West syndrome - violent flexor spasms of head, trunk and limbs followed by extension of arms. Last 1-2s, multiple bursts of 20-30 spasms, often on waking. Soial interaction deteriorates
What are the EEG findings for West syndrome?
Hypsarrhythmia, chaotic pattern of high-voltage slow waves and multi-focal sharp wave discharges
Most lose skills and develop learning disability or epilepsy
How would you treat West syndrome seizures?
Vigabatrin
Corticosteroids
What type of seizures might you get with Lennox-Gastaut syndrome? What age does it present?
1-3yrs Mostly drop attacks but many types (astatic seizures) Tonic seizures and atypical absences Regression and behavioural disorder Poor prognosis, other neuro features
Give common presenting features of childhood absence seizures
4-12yrs
Stare, stop moving, twitch eyelids or hands. Only few seconds, child has no recall but may be puzzled
Developmentally normal but may interfere with schooling performance
What EEG findings are there in childhood absence seizures? How would you treat them?
3Hz spike and wave complexes, bilaterally synchronous during and sometimes between episodes
Treat - valproate, ethosuximide (NOT CARBAMAZEPINE)
2nd line - lamotrigine
What is the prognosis for childhood absence epilepsy?
Good, 95% remission in adolescence
5-10% develop tonic-clonic seizures as adults
What occurs in benign epilepsy with centrotemporal spikes?
Presents 4-12yrs
Tonic-clonic seizures in sleep
Simple focal seizures - abnormal tongue feeling and distortion round face
What EEG findings are there in BECTS?
Focal sharp waves from Rolandic or centrotemporal area. Benign and may not require treatment.
Remits in adolescence
What occurs in early onset benign childhood occipital epilepsy?
Presents 1-14yrs
Young - periods unresponsiveness, eye deviation, vomiting, autonomic features
Older children - headache, visual disturbance, distorted images and hallucinations
EEG - occipital discharges
Remits in childhoood
What are the features of juvenile myoclonic epilepsy?
Adolescence to adulthood
Myoclonic seizures, but also tonic-clonic and absence possible.
Mostly shortly after waking “morning clumsiness”
Learning unimpaired
What is the prognosis of juvenile myoclonic epilepsy?
Good response to treatment but LIFELONG
Remission unlikely
What are the first and second line treatments for tonic-clonic seizures?
1st = valproate, carbamazepine 2nd = lamotrigine, topiramate
What are the 1st and 2nd line treatments for absence seizures?
1st = valproate, ethuosuximide 2nd = lamotrigine
What are the 1st and 2nd line treatments for myoclonic seizures?
1st = valproate 2nd = lamotrigine
What are the 1st and second line treatments for focal seizures
1st = carbamazepine, valproate, lamotrigine 2nd = topiramate, levetiracetam, oxcarbazepine, gabapentin, tigabine, vigabatrin
What are common features of frontal lobe seizures?
motor symptoms from distal limb to ipsilateral face (Jacksonian march)
Bow and arrow posture
Then tonic-clonic seizure
What seizure occurs in hyperekplexia?
Tap baby on head, starts jerking, tonic phase, apnoeic, becomes cyanotic
Abort by flexing neck - baby breathes again
What is motor stereotypy?
Stimulus causes movements (hand and mouth usually)
Don’t change, repetitive
Start earlier than tics, commoner in children with communication disorders
Rarely responsive to medication
What is status dystonicus in cerebral palsy?
Increasingly frequent severe episodes of generalised dystonic spasms
Requires urgent hospital admission
Muscles contract, break down, release CK, can cause rhabdomyolysis, acute renal failure, weight loss
What is cerebral palsy?
Abnormality of movement and posture
Causes activity limitation due to non-progressive disturbances that occurred in developing foetal or infant brain.
Why might cerebral palsy show regression?
Lesion is not progressing but as functions become more complex with age and normal development, lack of development becomes more obvious
What are the causes of cerebral palsy?
80% antenatal - vascular occlusion, cortical migration disorders, structural maldevelopment of brain inutero
10% - hypoxic-ischaemic injury during delivery
10% - postnatal
What can cause cerebral palsy in preterm infants?
Brain damage from periventricular leukomalacia (PVL)
PVL secondary to ischaemia or intraventricular haemorrhage
What are some postnatal causes of cerebral palsy?
Meningitis/encephalitis/encephalopathy Head trauma Hypoglycaemia Hydrocephalus Hyperbilirubinaemia
What are the early clinical presenting features of cerebral palsy?
Abnormal limb/trunk posture, tone, delayed motor milestone
Feeding difficulties - oromotor incoordination
Abnormal gait once walking
Asymmetric hand function before 12 months age
Persistence primitive reflexes
What are the 3 main clinical subtypes of cerebral palsy?
Spastic
Dyskinetic
Ataxic (hypotonic)
or mixed!
What are the features of spastic cerebral palsy?
Spastic tone - increased and velocity-dependent
Brisk deep tendon reflexes
Head and trunk hypotonia initially may occur
Hemiplegia - unilateral arm mostly, and leg, face not
Quadriplegic - all 4 limbs affected + trunk (extensor posturing), poor head control and central tone
Diplegia - all four limbs but legs affected to greater degree than arms. Hand function may appear normal. One of patterns associated with pre-term birth
What are the features of dyskinetic cerebral palsy?
Involuntary, sometimes stereotyped movements, more obvious with active movements or stress - 1yr old
Variable muscle tone, primitive motor reflexes dominate
Chorea
Athetosis - slow writhing movements distally
Dystonia - twisting appearance as agonist and antagonist muscles contract
Intellect may be unimpaired
Floppiness, poor trunk control
Cause is hypoxic-ischaemic injury at term or Kernicterus
What are the features of ataxic (hypotonic cerebral palsy)
Genetic, or cerebellar injury
Early trunk and limb hypotonia, poor balance, delayed motor development
Incoordination, intention tremor, ataxic gait later
Give the different types of manifest squint
Obvious deviation without cover Exotropia - eye deviated laterally Esotropia - eye deviated medially Hypertropia - eye deviated upwards Hypotropia - eye deviated downwards
What is a latent squint and give the different types
Latent squint - no deviation but deviates under cover Exophoria - deviated laterally Esophoria - deviated mediatlly Hyperphoria - deviated upwards Hypophoria - deviated downwards
What causes strabismus?
60% genetic
Refractive error or anisometropia (can lead to amblyopia)
Neurological deficit
Anatomical/mechanical - muscle disorder
If febrile illness prior to it, check not sick cranial nerve palsy
Idiopathic
If eye misalignments in neonates, should you be concerned?
Possibly but could be transient and stop at 4 months
How might you assess deviation of eyes initially?
Corneal reflection test - see if symmetrical
What test would you do after corneal reflections in strabismus?
Cover test
Start with torch and detailed target - squint may become apparent then
Then cover one eye - if manifest squint, when cover good eye, squinty eye will align to look forward. If no tropia do cover-uncover test
Cover-uncover test - cover squinty eye and will deviate, when remove cover will see it move back
Do near and distant cover tests!
Why is early identification and treatment of strabismus important?
May be neurological problem - if paralytic!
If not - can go on to develop AMBLYOPIA causing functional difficulties
How is non-paralytic strabismus often treated?
What does persistent decreased visual acuity after this treatment suggest?
Corrective glasses
Amblyopia if persistent poor acuity
Other - orthoptic exercises, prisms, extraocular muscle surgery, botulinum toxin injection muscles
How is amblyopia investigated and managed?
Eyedrops to dilate pupil - refraction, fundoscopy, media check
Treatment: Refractive adaptation (wear glasses 16-18wks and see
Occlusion of good eye (full or part time)
Atropine drops in better eye (dilates pupil, prevents accommodation)
What feature suggests paralytic strabismus?
On ocular movements, one eye does not do full movement compared to other eye
Be aware of features in history suggesting neurological involvement e.g. head trauma, seizures, headache…
What occurs in glue ear?
Middle ear fills up with fluid Usually resolves within 3 months Temporary hearing loss, earache, pain Autoinflation If longer than 3 months - hearing test or specialist assessment
What maternal disorders can cause congenital heaert diease?
Rubella - peripheral pulmonary stenosis, PDA
SLE - complete heart block
Diabetes - increased incidence
What maternal drugs can cause congenital heart disease?
Warfarin - pulmonary valve stenosis, PDA
Fetal alcohol syndrome - ASD, VSD, tetralogy of Fallot
What congenital heart abnormalities are associated with Down syndrome?
Atrioventricular septal defect
VSD
What congenital heart abnormalities are associated with Edward’s and Patau’s syndromes?
complex
What congenital heart abnormalities are associated with Turner’s syndrome?
Coarctation of aorta, aortic valve stenosis
What congenital heart abnormalities are associated with chromosome 22q11.2 deletion?
Tetralogy of Fallot
Aortic arch abnorms, common arterial trunk
What congenital heart abnormalities are associated with Noonan syndrome?
Hypertrophic cardiomyopathy
ASD
pulmonary valve stenosis
What are the features of an innocent ejection murmur?
S - innoSent aSymptomatic patient Soft blowing murmur Systolic murmur only, not diastolic left Sternal edge Also - normal heart sounds with no added sounds, no parasternal thrill, no radiation
What are some symptoms of heart failure?
Breathlessness (feeding or exertion especially)
Sweating
Poor feeding
Recurrent chest infections
What are the signs of heart failure?
Faltering growth Tachypnoea, tachycardia Heart murmur, gallop rhythm Cardiomegaly Hepatomegaly Cool peripheries
Give some symptoms and examples of left to right shunting in cardiac disease?
Symptoms- breathless or asymptomatic
Ex: ASD, VSD, PDA
Give some symptoms and examples of R to L shunting in cardio?
Symptoms: Blue
Ex: Tetralogy of Fallot, TGA
Give some examples of common mixing cardiac abnormalities and the symptoms
Symptoms: breathless AND blue
Ex: AVSD, complex
Give some examples of cardiac obstructive abnormalities that show well children
Aortic stenosis
Pulmonary stenosis
Adult-type coarctation of aorta
Give some examples of cardiac obstructive abnormalities that cause neonates to be sick or in shock
Coarctation of aorta
Hypoplastic left heart syndrome
What is important to check in cyanotic heart disease and how would you manage?
Is it a duct-dependent lesion?!
If yes, give prostaglandins to keep OPEN
If not, can give NSAIDs to CLOSE
What happens to the atrioventricular vales in AVSD?
Left atrioventricular valve has 3 leaflets and tends to leak
What are the physical signs of atrial septal defect?
Ejection systolic murmur at upper left sternal edge
Split 2nd heart sound
AVSD - apical pansystolic murmur
What signs would you see on investigations that suggest atrial septal defect?
CXR - cardiomegaly, enlarged pulmonary arteries, increased pulmonary vascular markings
ECG - RBB, right axis deviation OR in AVSD, superior QRS axis
Echo - shows anatomy and defect
How are atrial septal defects managed?
Treatment if causing RV dilation at 3-5yrs
Secundum ASD - cardiac catheterisation with insertion of occlusion device
Partial AVSD - surgical correction
What counts as a small VSD?
Smaller than aortic valve in diameter (<3mm)
What are the physical signs of a small VSD?
Asymptomatic
Loud pansystolic murmur at lower left sternal edge
Quiet pulmonary second sound
What will investigations show for a small VSD?
CXR and ECG NORMAL
Echo - anatomy, doppler shows blood flow, no pulmonary hypertension
How would you manage a small VSD?
Lesions close spontaneously, follow up to check no murmur and normal ECG
Advise good dental health to prevent bacterial endocarditis
What counts as a large VSD?
Same or larger than aortic valve diameter
What are features of large VSDs?
Symptoms - breathless, failure to thrive, recurrent chest infections
Signs - tachypnoea, tachycardia, hepatomegaly, active precordium
Soft pansystolic murmur or no murmur left sternal edge
Apical mid-diastolic murmur
Loud pulmonary second sound
What would investigations show for a large VSD?
CXR - cardiomegaly, enlarged pulmonary arteries, increased pulmonary vascular markings, pulmonary oedema
ECG - biventricular hypertrophy by 2mnths
Echo
How would you manage a large VSD?
Diuretic with captopril for heart failure
Additional calorie input
Surgery at 3-6 months to prevent Eisenmenger syndrome
What is hydrops fetalis?
Abnormal accumulation of fluid in 2 or more fetal compartments - ascites, pleural effusion, pericardial effusion, skin oedema
What occurs in persistent ductus arteriosus?
Ductus arteriosus failed to close by 1 month after expected date of delivery.
If at term, due to defect in constriction mechanism
If pre-term, due to prematurity
Blood flows left to right from aorta to pulmonary artery following the fall in pulmonary vascular resistance after birth
What clinical features might you see in PDA?
Continuous murmur under left clavicle (systole and diastole)
Increased pulse pressure (collapsing or bounding pulse)
Most asymptomatic, but symptom may be pulmonary hypertension and heart failure symptoms
What might you see on investigations in PDA?
If asymptomatic, CXR and ECG normal
If symptomatic - CXR and ECG same findings as large VSD
Echo - patent ductus arteriosus
What is the management of PDA if not duct-dependent?
Closure to reduce risk of bacterial endocarditis or pulmonary vascular disease - NSAIDs
Surgery - Coil or cardiac catheter occlusion device at 1 yr old
May need surgical ligation
What are two examples of right to left shunt congenital cardiac abnormalities?
Tetralogy of Fallot
Transposition of the Great Arteries
Present with cyanosis, blue, low oxygen sats <94% in first few weeks of life
What is the hyperoxia (nitrogen washout)test?
Determines presence of cyanotic heart disease in neonates
Placed in 100% oxygen container for 10 mins
If R radial blood gas PaO2 remains low <15kPa then is cyanotic congenital heart disease - if lung disease and pulmonary HTN excluded
How would you manage a positive hyperoxia test?
Prostaglandin infusion as most infants with cyanotic heart disease in first few days of life are duct-dependent
Observe side effects - apnoea, jitteriness, seizures, flushing, vasodilatation, hypotension
What is the most common cause of cyanotic congenital heart disease? What are its core cardiac defects?
Tetralogy of Fallot
- Large VSD
- Overriding aorta
- Subpulmonary stenosis (Routflow tract obstruct)
- RVH
What are the clinical features of Tetralogy of Fallot?
Hypercyanotic spells possible - squatting on exercise in late infancy, rapid increased cyanosis, irritable, inconsolabe crying, pallor, breathless
Clubbing of fingers and toew
Loud harsh ejection systolic murmur L sternal edge on day 1 of life, murmur shorterns over time and cyanosis increases
What do investigations show in Tetralogy of Fallot?
CXR - small heart, uptilted apex (bootshaped), RVH, pulmonary arter bay, decreased pulmonary vascular markings
ECG - Normal at birth, RVH when older
Echo - cardinal features, may need catheterisation to show detailed anatomy of coronary arteries
How is tetralogy of Fallot managed?
Medical initially
Surgical - 6 months to close VSD and relieve R outflow tract obstruction
Cyanosed neonates - Blalock-Taussig shunt between subclavian and pulmonary artery or balloon dilation of PA outflow tract
How would you manage hypercyanotic spells in Tof F?
Usually self-limiting. If >15 mins
- sedation and pain relief - morphine
- IV propanolol or alpha agonist
- IV volume administration
- bicarbonate to correct acidosis
- muscle paralysis and ventilation to reduce demand
Describe the cardiac defects in transposition of the great arteries
Aorta connected to right ventricle and pulmonary artery connected to left ventricle.
2 parallel circuits - oxygenated blood back to lungs and deoxygenated blood back to body
If no mixing = not compatible with life
Usually some mixing - e.g. VSD, ASD, PDA
What are clinical features of transposition of the great arteries?
Cyanosis - usually day 2 when DA closes
Second heart sound is LOUD and single
No murmur usually
What do investigations show for transposition of the great arteries?
CXR - narrow upper mediastinum, “egg on side” cardiac shadow, increased pulmonary vascular markings
ECG - normal
Echo - shows abnormalities
How would you manage transposition of the great arteries?
Allow mixing - prostaglandin infusion for PDA
Balloon atrial septostomy
Surgery - arterial switch (PA and aorta switched and coronary arteries transferred to aorta)
What is Eisenmenger syndrome?
Reversal of L to R shunt - R to L which is cyanotic
High R heart blood blow to lungs causes pulmonary hypertension, resistance increases R heart pressure and RVH
Pressure greater than L so R to L shunting occurs - cyanosis at 10-15 yrs
Prevention - early intervention for high pulmonary blood flow
What are the cardiac features of AVSD?
Complete atrioventricular septal defect in middle of heart with single 5 leaflet valve between atria and ventricles - leaky
Large defect also means pulmonary HTN
What are the presenting features of AVSD?
Antenatal US screening
Cyanosis at birth or heart failure 2-3 wks
No murmur heard, identified on routine echo for children with Down syndrome
Superior axis on ECG
How is AVSD managed?
Treat heart failure - diuretics and captopril
Surgical repair at 3-6 months
What is the commonest complex congenital heart disease?
Triscuspid atresia - RV small and non-functional
Mixing of systemic venous and pulmonary return in left atrium
What are the clinical features of tricuspid atresia?
Cyanosis in newborn if duct-dependent or well at birth, then becomes cyanosed or breathless
How is tricuspid atresia managed?
Prostaglandins to keep PDA open Blalock Taussig shunt - subclavian to pulmonary artery in severely cyanosed Pulmonary artery banding if breathless Hemi-fontan - SVC to PA at 6 months Fontan - IVC to PA at 3-5yrs
What clinical features may present in aortic stenosis?
Asmptomatic, chest pain on exertion, reduced exercise tolerance or syncope
If critical in neonates and duct-dependent - severe HF and shock
What are the physical signs of aortic stenosis?
Small volume, slow rising pulses, carotid thrill always
Ejection systolic murmur R upper sternal edge radiating to neck
Delayed and soft aortic second sound
Apical ejection click
What would investigations show in aortic stenosis?
CXR - normal or LVH with dilated ascending aorta
ECG - LVH
How would you manage aortic stenosis?
Regular clinical and echo assessments
Symptomatic - balloon valvotomy, or balloon dilatation in older children
Eventually aortic valve replacement
What are the clinical features of pulmonary stenosis?
Mostly asymptomatic
Small number neonates with critical pulmonary stenosis have duct-dependent pulmonary circulation, present in 1st few days with cyanosis
What are the physical signs of pulmonary stenosis?
Ejection systolic murmur at upper left sternal edge, thrill may be present
Ejection click upper left sternal edge
Severe - prominent RV heave
What do investigations show for pulmonary stenosis?
CXR - normal or post-stenotic dilation of PA
ECG - RVH (upright T wave in V1)
How is pulmonary stenosis managed?
When pressure gradient across PA valve marked:
Trans-catheter balloon dilatation
What causes coarctation of aorta?
Arterial duct tissue encircles aorta where duct inserts. When ductus arteriosus closes, aorta constricts causing LV outflow obstruction
What are the clinical features of coarcation of aorta?
Acute circulatory collapse at 2 days of age when duct closes
Sick baby, severe heart failure
Absent femoral pulses
Severe metabolic acidosis
What would investigations show in coarctation of aorta?
CXR - cardiomegaly from HF and shock
ECG - normal
How is coarctation of aorta managed?
ABC
Prostaglandin
Surgical repair
What occurs in adult-type coarctation of aorta?
Not duct-dependent Asymptomatic Systemic hypertension R arm Ejection systolic murmur upper sternal edge Radio-femoral delay
What would investigations show in adult-type coarctation of aorta?
CXR - Rib notching - intercostal arteries to bypass obstruction, visible notch in descending aorta
ECG - LVH
How is adult-type coarctation managed?
Severity assessed by echo
Stent inserted at cardiac catheter.
Surgical repair may be needed later
What is interruption of aortic arch?
NO connection between proximal aorta and distal to arterial duct. CO relies on PDA. VSD often present
Circulatory collapse neonate, absent femoral pulses and absent left brachial pulse
Associated with DiGeorge and 22q11.2
Maintain ABC, prostaglandin
What is hypoplastic left heart syndrome?
Underdeveloped L heart, ascending aorta small, coarctation of aorta
Often detected antenatally.
Very sick neonates with duct-dependent lesion
Weakness or absence of all peripheral pulses
Maintain ABC, prostaglandin
Norwood procedure, followed by hemi-Fontan (6mnths) and Fontan procedures (3yrs)
What is sinus arrhythmia?
Normal in children
Heart rate increases on inspiration and slows on expiration (up to 30beats/min)
What is the commonest arrhythmia in childhood? What are its features?
Supraventricular tachycardia
250-300 beats/min
presents: heart failure in neonate or young infant, hydrops fetalis or intrauterine death
What investigations would you do for SVT and what would you see?
Echo - rule out structural abnormalities
ECG - narrow complex, p wave after QRS, MI changes if HF, T wave inversion. Sinus rhythm short PR intervals and delta wave (WPW)
How would you manage SVT?
Acute episodes: positive pressure ventilation, tissue acidosis correction
Vagal stimulating manoeuvres - carotid sinus massage, cold ice pack to face
IV adenosine
Electrical cardioversion if adenosine fails
Maintenance therapy = Flecainide, sotalol or digoxin (digoxin if no delta waves)
What is congenital complete heart block?
Rare, presence of anti-Ro or anti-La antibodies in maternal serum. Atrophy and fibrosis of AVN
Fetal hydrops, death in utero, heart failure as neonate
Many remain symptom-free for years, then presyncope and syncope
Mx: Endocardial pacemaker
What are features of long QT syndrome?
Autosomal dominant, erythromycin, electrolyte disorders or head injury
Sudden loss of consciousness during exercise, stress, emotion later in childhood - can cause sudden death from VT.
Assess if family history of sudden death or syncope
What is rheumatic fever?
Abnormal immune response to Group A beta haemolytic strep infection 2-6 wks later
Polyarthritis, mild fever, malaise
Jones criteria for diagnosis - 2 major, one major + 2 minor and previous group A strep infection
Major - Pancarditis, polyarthritis, Sydenham chorea, Erythema marginatum, subcutaneous nodules
Minor - fever, polyarthralgia, history RF, Raised ESR, CRP, WCC, prolonged PR on ECG
What is chronic rheumatic heart disease?
Long-term damage from rheumatic fever = scarring and fibrosis of heart valve tissue MITRAL STENOSIS
Other valves can occur too
How would you manage rheumatic fever?
Bed rest, anti-inflammatory agents (essential in active myocarditis)
High dose ASPIRIN, serum levels monitored
If not resolved - CORTICOSTEROIDS
HF - diuretics and captopril, pericardiocentesis for pericardial effusions
Amoxicillin if persistent infection
How would you manage rheumatic fever after resolution of acute episode?
Monthly injections benzathine penicillin as prophylaxis until 21 or lifelong
Oral erythromycin if allergic to penicillin
When should infective endocarditis be suspected?
Any person with sustained fever, malaise, raised ESR, unexplained anaemia or haematuria
What are clinical signs of infective endocarditis?
Fever Anaemia and pallor Splinter haemorrhages in nailbed Clubbing (late) Necrotic skin lesions Changing cardiac signs Splenomegaly Neurological signs from cerebral infarction Retinal infarcts Arthritis/arthralgia Haematuria (microscopic)
How do you diagnose infective endocarditis?
Multiple blood cultures before Abx
Echo (vegetations)
CRP and ESR raised
Commonest infective agent is alpha haemolytic strep (S. viridans)
How do you treat infective endocarditis?
IV penicillin and gentamicin first 2 weeks, then IV penicillin for 4 more weeks (6 weeks total)
Check serum level - may take longer if prosthetic valves
What prophylaxis is there for infective endocarditis?
Good dental hygiene
Antibiotic prophylaxis no longer encouraged
How is myocarditis managed?
ACE-inhibitors, carvedilol (Beta antagonist)
(steroids or Ig?)
Usually improves spontaneously but may require heart transplant
How might pulmonary hypertension be managed?
Treating underlying cardiac cause Inhaled NO, IV MgSO4, oral Sildenafil IV prostacyclin, inhaled iloprost oral Bosentan (endothelin antagonist) Anticoagulation - heparin, warfarin, aspirin
What is wheeze?
High-pitched whistling sign on expiration
How is meningococcal septicaemia transmitted?
Droplet spread or secretions from carrers
What are some cerebral complications following bacterial meningitis?
Hearing loss
Local vasculitis, local cerebral infarction
Subdural effusion - Hib especially
Hydrocephalus
Cerebral abscess
Give IV fluids, oxygen, antibiotics for 3 months to prevent these after infection. Also dexamethasone but controversial
What is stridor?
High-pitched wheezing sound caused by disruption of air flow through narrowed UPPER airways
Can be inspiratory, expiratory or biphasic
What are the differential diagnoses for someone presenting with stridor?
Epiglottitis - EXCLUDE first Croup Bacterial tracheitis Inhaled foreign body Anaphylaxis Laryngomalacia Diphtheria Hemangioma Laryngeal web
What is another name for croup and what are its features?
Laryngotracheobronchitis
Presents 6 months to 6 yrs. Peak is 1-2 yrs old
Features: harsh stridor, barking cough, hoarseness
Usually preceded by cough, coryza, fever
Symmptoms worse at night
What must you NOT do if you suspect upper airway obstruction? ie stridor
Throat examination - can lead to laryngospasm if child becomes distressed
Only do if full resuscitation equipment available
What is the commonest cause of croup and give some other causes
Parainfluenza
Others - human metapneumovirus, RSV, influenza…
How would you monitor severity of croup?
Chest retraction
O2 sats
Child can usually be managed at home
How is croup treated?
Oral dexamethasone, oral prednisolone
Nebulised budesonide
If severe, give one dose before hospital, one in hospital and one 12 hrs later
How would you manage if croup continues to get worse after initial treatment?
ABCDE assessment
Nebulised adrenaline and call anaesthetist (in case needs intubating when it wears off in 2hrs)
Potential tracheostomy if bad
What organism causes bacterial tracheitis? What are the features of this condition?
Staph aureus
High fever, rapidly progressive obstruction/stridor, copious thick airway secretions
Treat - IV antibiotics and intubation/ventilation
What are common features of epiglottitis?
Caused by Hib, presents 1-6yrs mostly but in any age group
High fever, toxic very unwell child
Intensely painful throat preventing child from speaking or swallowing
Soft inspiratory stridor - rapidly increasing resp difficulty
How does epiglottitis differ from croup?
Epiglottitis - more acute, no preceding cough or coryza, absent or slight cough, not able to drink, drooling saliva, higher fever, more unwell, soft whispering stridor unlike harsh croup stridor.
Muffled speech unlike hoarse speech in croup
What must you not do in epiglottitis when examining the child?
Get them to lie down
Or perform a throat examination
How is epiglottitis managed?
Urgent hospital admission to ICU with senior paediatrician, anaesthetist and ENT surgeon
GA and intubated
If not possible, tracheostomy
Once airway secured - Blood culture, IV antibiotics (Cefuroxime)
Prophylactic rifampicin to household contacts
What are the features of whooping cough?
Catarrhal phase 1 wk
Paroxysmal phase 3-6wks - cough, inspiratory whoop, worse at night, can lead to vomiting, goes red or blue in face
Epistaxis and conjunctival haemorrhages may occur
Convalescent phase - symptoms decrease but may last months
What are the complications of whooping cough?
pneumonia
convulsions
bronchiectasis
mortality
How is whooping cough identified?
Per-nasal swab culture and PCR
Raised lymphocytes on blood count
Manage with Erythromycin - if started in catarrhal phase
Close contact - erythromycin prophylaxis, vaccinate infants that aren’t vaccinated
What are the features of bronchiolitis?
Under 1yr old (1-9mnths)
RSV vs non-RSV (parainfluenza, adenovirus, rhinovirus..)
Coryza preceding dry cough, breathlessness
Feeding difficulty and possible recurrent apnoea
Tachypoea, subcostal and intercostal recession
Hyperinflation of chest
Fine end-inspiratory crackles + wheeze
Tachycardia
Cyanosis or pallor
What increases the risk of getting bronchiolitis?
Broncohopulmonary dysplasia, chronic lung disease CF congenital heart disease Lots of contacts/siblings Immunodeficiency Exposure to tobacco smoking Not breastfed Crowded living conditions
What investigation would you do for bronchiolitis?
Nasal swab PCR
Or nasopharyngeal aspirate to quickly detect ifi RSV or not
Pulse oximetry - assess severity
How is bronchiolitis managed?
Supportive only
Humidified O2 nasal cannulae if poor O2 sats
Try to improve oral feeding - smaller amounts more frequently
IV fluids or NG feeds if poor feeding/hydration
NIV in small number, monitor for apnoea
Ribavarin if severe - mops up RSV
What is the prognosis for bronchiolitis?
Most recover in 2 weeks
Some may have recurrent episodes of cough and wheeze
If adenovirus infection after, may lead to permanent damage - bronchiolitis obliterans
What is the prevention for bronchiolitis?
High-risk preterm invants may be offered monthly injection - IM Palivizumab
e.g. BPD, Congenital heart disease, immunodeficient
How might CF affect management of bronchiolitis?
Lower threshold for hospital admission
Possible secondary pneumonia - CXR, blood gases
Require chest physio and inhaled saline
What are the commonest causes of pneumonia depending on age?
Newborn - Group B strep, gram-negative enterococci
Infants and young children - RSV, S.pneumoniae, Hib, Bordetella Pertussis, Chlamydia trachomatis, S.aureus
Over 5 - Mycloplasma pneumoniae, S. pneumoniae, Chlamydia pneumoniae
Always consider Mycobacterium tuberculosis
What clinical features will pneumonia present with?
Fever, SOB, usually preceded by URTI
Cough, lethargy, poor feeding, unwell
Chest, abdo or neck pain - suggest bacterial
Tachypnoeic, increased work of breathing
BEST SIGN = tachypnoea, always check RR in febrile
End-respiratory coarse crepitations, dullness on percussion, decreased breath sounds, bronchial breathing, reduced O2 sats
What investigations might you do to diagnose pneumonia?
CXR - pneumonia but not sure cause
NPA in younger children
FBC, acute phase reactants
USS if pleural effusion to differentiate if empyema
How is pneumonia managed?
Hospital admission if O2<93%, severe tachypnoea, or work of breathing, not feeding
Oxygen, analgesia, IV fluids
Newborn - cefotaxime IV
Older infants and children - oral amoxicillin, co-amoxiclav if complicated or unresponsive. Erythromycin if penicillin-allergic
Effusion - resolve with Abx. If empyema, requires drainage
What is follow-up like for pneumonia?
None needed if simple
If effusion or lobar collapse - repeat CXR in 4-6wks
Give features of viral-induced or transient early wheeze
Age 1yr-4yrs
Due to smaller airways that are inflamed during URTI viral infection
Episodic - only when viral infection. No symptoms in between
No family history of atopy
Diffuse wheeze
Likely to improve with age
How would you manage viral wheeze?
Bronchodilators - salbutamol or ipratropium bromide
May use oral steroids in acute attack
Montelukast regularly for those with predisposition
What are features suggestive of asthma?
Multiple episodes of wheeziness - some due to IgE triggers (atopic asthma)
Symptoms worse at night
Interval symptoms (but also worse with virus)
Triggers - exercise, cold, emotions, pets, laughter
Family history of atopy
Positive response to asthma therapy
What might examination show in an asthmatic child?
Hyper-inflation of chest
Generalised polyphonic expiratory wheeze
Prolonged expiratory phase
What investigations may be done for asthma?
PEFR - over 5s - diurnal variation, dayto day
Response to treatment is diagnostic test - salbutamol reversibility 10-15% increase PEFR response
What might be given first for chronic management of asthma?
child - Salbutamol or terbutaline inhaler with inhaled corticosteroid
infant or young child - ipratropium bromide inhaler (or leukotriene antagonist if not tolerate inhaler)
After SABA + ICS what might be added for management of chronic asthma?
Over 5 - LABA, then leukotriene and stop LABA if not working
Under 5 - Leukotriene receptor antagonist e.g. montelukast
Theophyllines after these - N+V, headaches
What might be given for persistent asthma despite SABA+ICS+ add-ons?
Over 5 - increase ICS dose to max and refer Under 5 - refer THEN Oral prednisolone daily Omalizumab - anti-IgE injection
What criteria is there for admitting a child with acute asthma to hospital?
Not responded adequately to high dose bronchodilator therapy - breathless, tachypnoeic
Exhausted
Marked reduction in PEFR
<92% O2 sats
How would you manage a moderate exacerbation of asthma?
SABA 2-4 puffs, increase by 2 puffs every 2 min up to 10 puffs if required
Consider oral prednisolone
Reassess within one hour
If respond - bronchodilators 1-4hrly PRN, discharge when stable on 4hrly, continue oral prednisolone daily up to 3 days
How would you manage severe exacerbation of asthma?
Oxygen via facemask/nasal cannulae SABA 10 puffs spacer or nebulised Oral prednisolone or IV hydrocortisone Nebulised ipratropium bromide if poor response Repeat bronchodilators every 20-30mins
How would you manage life-threatening exacerbation of asthma?
Oxygen
Nebulised salbutamol/terbutaline + ipratropium bromide
IV hydrocortisone
Discuss senior and PICU team
Repeat bronchodilators every 20-30 mins
If not responding - HDU, CXR, blood gases
IV salbutamol or aminophylline
Bolus IV MgSO4
Once responding - same as moderate management
What are some CSR signs of tuberculosis?
Marked hilar or paratracheal lymphadenopathy
Circular opacity
What is bronchiectasis and give some features
Permanent dilatation of bronchi - generalised or restricted to single lobe
Think if due to - CF, primary ciliary dyskinesia, immunodeficiency, chronic aspiration, TB (chronic cough
Chronic cough that is wet or productive
CXR - to exclude TB
CT - shows bronchiectasis
What is the inheritance of CF and how is it picked up/diagnosed?
Inheritance = autosomal recessive, Caucasians
Guthrie’s test on day 5 (raised immuno-reactive trypsinogen, but not sensitive e.g. prem)
Sweat test diagnostic - look for Cl and Na in sweat
What is the pathophysiology of CF?
Mutation in CFTR gene, defective CFTR protein in cyclic-AMP chloride ion channel - cannot transport Cl out of cell, water cannot follow and hydrate cell surface layer
Thick mucus and impaired ciliary function
Chronic endobronchial infections, thick meconium, blockage of pancreatic ducts and biliary ducts
How might CF present in neonates or infants?
Meconium ileus - not passed for more than 48hrs, vomiting bile
Prolonged jaundice
Malabsorption, steatorrhoea
What organs does CF affect?
Lungs, Liver, Pancreas, Intestines, GU system
How might CF present in young children?
Failure to thrive Recurrent chest infections/wheeze/cough/bronchiectasis Nasal polyps Rectal prolapse Sinusitis Poor appetite
How might CF present in teenagers?
Diabetes Liver failure Allergic bronchopulmonary aspergillosis Pneumothorax, haemoptysis Distal intestinal obstruction Psychological effects ADULT - infertility (vas deferens blockage)
How is CF managed?
MDT!
Chest physio- clear mucus + neb saline + mucolytics
Prophylactic antibiotics, may need portacath for IV antibiotics in recurrent acute infections
Ursodeoxycolic acid for bile
Dietitian - calorie intake, overnight gastrostomy, vitamin supplements, enteric pancreatic enzymes
What are features of obstructive sleep apnoea?
Loud snoring Witnessed pauses in breathing (apnoea) Restlessness, tired Disturbed sleep Obese maybe or growth failure Learning and behaviour problems, risk of cardiorespiratory events, pulmonary HTN OVERNIGHT PULSE OXIMETRY
What managements may be given for OSA?
Adenotonsillectomy - if due to adenotonsillar hypertrophy
CPAP or BIPAP at night
What is the difference between “posseting” and “regurgitation” and “vomiting” and “rumination”?
Posseting - small volumes of milk accompanying burping/wind
Regurgitation - more frequent larger losses (indicates abnormality e.g. GORD)
Vomiting - forceful ejection of gastric contents
Rumination - Regurgitation ingested foods soon after meal
What are the metabolic and mechanical consequences of vomiting?
Metabolic: Potassium deficiency, alkalosis, hyponatraemia
Mechanical - Mallory-Weiss tear, tears in gastric arteries causing shock
What is the management of vomiting?
IV fluids, analgesia, anti-emetics
Treat underlying cause
What red flags are associated with vomiting?
Meningism, raised ICP
Abdominal pain (appendicitis, UTI)
Costovertebral tenderness
Testicular pain!!
What causes GORD in children?
Involuntary passage of gastric contents into oesophagus due to immaturity of lower oesophageal sphincter
Fluid-based diet, horizontal position increase risk
More common in children with cerebral palsy or neurodevelopmental conditions
How is GORD diagnosed?
Normal physiology if a few times a day in healthy infants - resolves within 1 yr
24hr oesophageal pH monitor
Barium swallow and meal with endoscopy
Endoscopy with biopsy to identify oesophagitis
PPI test - see if it improves
What are clinical features of GORD?
Faltering growth
Oesophagitis/or stricture (dysphagia, haemoptysis)
Apnoea
SIDS
aspiration, wheezing, hoarseness, seizure-like events
How is GORD managed?
Uncomplicated - thickening agents, position at 30degrees head-up prone position, not eating before sleeping or exercise
Significant - H2 receptor antagonist or PPI
If not responded - Nissen fundoplication surgery
What causes pyloric stenosis?
Hypertrophy of pyloric muscle causing gastric outlet obstruction
What are clinical features of pyloric stenosis?
Presents 2-7wks age, boys commoner, possible FH maternal
Vomiting - increases frequency and force over time becoming projectile - after feeds
Hunger after vomiting, then dehydration causing loss of interest in feeding
Weight loss if delayed presentation
Hypochloraemic metabolic alkalosis, hyponatraemia, hypokalaemia
How is pyloric stenosis diagnosed?
Immediate fluid resuscitation if needed
Test feed - milk given, watch for gastric peristalsis (L to R across abdomen)
Olive-like pyloric mass in upper R quadrant
NG tube to remove air if over-distended
USS examination if in doubt
How is pyloric stenosis managed?
IV fluids (saline, dextrose, potassium supplement) Pyloromyotomy - fed within 6h, discharged within 2 days
What are features of infant “colic”?
Paroxysmal inconsolable crying
Drawing up of knees
Passage of excessive flatus several times a day, especially evening
First few weeks of life then resolves by 4 mnths
Support and reassure, gripe water maybe
2wk trial anti-reflux treatment and hydroslated formula
What should you consider in a child presenting with acute abdominal pain?
Acute appendicitis UTI or acute pyelonephritis Testicular torsion! Strangulated inguinal hernia Referred hip pain DKA Lower lobe pneumonia Primary peritonitis
What are the features of acute appendicitis?
Anorexia, vomiting, abdominal pain (central, colicky then localises to RIF)
Flushed face with oral fetor, low grade fever, abdo pain aggravated by movement, persistent tenderness or guarding in iliac fossa
Generalised guarding - associated with peritonitis
Why is diagnosis of acute appendicits not always clear?
Young children - faecoliths more common, may be seen on abdo XR, perforation rapid
Retrocaecal appendix - local guarding may be absent
Pelvic appendix - few abdo signs
Review every few hours but also don’t delay too much
Neutrophilia not always present
May get white cells and organisms in urine
May do USS to guide decision
How would you manage acute appendicitis?
Appendicectomy
If palpable mass and no signs of peritonitis, may do IV antibiotics then appendicectomy in a few weeks
If peritonitis = IV fluids and antibiotics prior to laparotomy
Give the pathophysiology of intussusception
Proximal bowel invaginated by distal vowel, common at ileo-caecal valve
Peak age presentation = 3 months to 2 yrs
Complication - mesentery constriction, obstructs venous return, vessels burst, fluid low and perforation, peritonitis, gut necrosis
What are presenting features of intussusception?
Colicky severe pain, pallor, draws up legs
Recovers between episodes but lethargic
Refuse feeds, vomit, may be bile-stained
Sausage-shaped mass palpable in abdomen
Redcurrant jelly stool (blood-stained mucus)
Abdominal distension and shock
(post-viral? Meckel diverticulum? Polyp?)
How would you manage intussusception?
IV fluid resuscitation immediately
Abdo XR - distended small bowel, no gas LI, target
USS abdo - confirms diagnosis and check response to treatment
If no peritonitis - rectal air insufflation/enema under supervision of surgeon in case perforates
If not work - operative reduction surgery
What is Meckel diverticulum?
Ileal remnant of vitello-intestinal duct continnig ectopic gastric mucosa or pancreatic tissue
Asymptomatic or severe rectal bleeding (neither bright red or true malaena)
May present with intussusception, volvulus, diverticulitis
Technetium scan - increased uptake by ectopic gastric mucosa.
Surgical resection
What is the most concerning condition with bright green bilious vomiting? What is the cause of this?
Malrotation!!
Rotation of bowel in foetal life not fixed to duodenojejunal flexure of ileocaecal region - small base so more likely to rotate on its own mesentery
Ladd bands may cause constriction
Give the features of malrotation
Presents first 1-3 days of life with Ladd bands or any age with volvulus
Obstruction, acute abdo pain with tenderness
Dark green vomiting
Urgent upper GI contrast study
If vascular compromise signs - urgent laparotomy - untwist, fix to flexures and remove appendix
