Paediatrics

Question 1

How would you measure temperature in a child <4 weeks?

Answer 1

Electronic thermometer in the axilla

Question 2

How would you measure temperature in a child aged 4weeks to 5 years

Answer 2

• Electronic thermometer in axilla
• Infrared tympanic thermometer
• Chemical dot thermometer in axilla

Question 3

How would you manage a child with a fever?

Answer 3

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

Question 4

What temperatures are high or intermediate risk in children under 6 months?

Answer 4

3-6 months = 39 or more

Under 3 months = 38 or more (RED)

Question 5

How might you assess dehydration in a child?

Answer 5

Urine output, feeding and fluid intake
Prolonged capillary refill time
Abnormal skin turgor
Abnormal respiratory pattern
Weak pulse
Cool extremities

Question 6

When would you consider meningococcal disease?

Answer 6

Fever and non-blanching rash
Purpura >2mm in size
Cap refill >3s
Neck stiffness
Ill-looking child

Question 7

When would you consider meningitis?

Answer 7

Fever
Neck stiffness
Bulging fontanelle
Decreased level of consciousness
Convulsive status epilepticus

Question 8

When would you suspect Herpes Simplex Virus Encephalitis?

Answer 8

Fever
Focal seizures or neurological signs
Decreased level of consciousness

Question 9

When would you consider pneumonia in a child?

Answer 9

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

Question 10

When would you consider a UTI in a child?

Answer 10

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

Question 11

When would you consider septic arthritis in a child with a fever?

Answer 11

Swelling of limb or joint
Non-weight bearing on one limb
Not using extremities

Question 12

What are some features suggesting Kawasaki disease in a child with a fever?

Answer 12

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)

Question 13

What are the risks with children under 1 and Kawasaki disease?

Answer 13

May present with fewer clinical features other than fever

AND may be at increased risk of coronary artery abnormalities

Question 14

How would you manage a fever in a child UNDER 3 MONTHS?

Answer 14

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)

Question 15

How would you manage a child over 3 months with a fever that has no apparent source?

Answer 15

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

Question 16

How would you manage a febrile child with a viral co-infection of RSV or influenza?

Answer 16

Assess for serious illness

Urine testing

Question 17

How might a child over 3 months be managed in hospital with a fever without apparent source?

Answer 17

Period of observation with anti-pyretics

If red or amber symptoms - reassessed every 1-2 hrs

Question 18

What children presenting to ED would get immediate fluid bolus and parenteral antibiotics?

Answer 18

Any age if fever and shock

also unrousable, signs of meningococcal disesase

Question 19

What fluid bolus would be given in ED for child with fever and shock?

Answer 19

IV 20ml/kg 0.9% saline, then actively monitored and given further fluids as necessary

Question 20

What parenteral antibiotics would be given if child presents to ED with fever, shock or decreased level of consciousness?

Answer 20

Third generation cephalosporin - Cefotaxime, Ceftriaxone

If under 3 months - add in ampicillin/amoxicillin to cover listeria

Question 21

What other medication may be given IV in child with fever and decreased level of consciousness, aside from antibiotics and fluids?

Answer 21

If signs of HSV encephalitis - IV aciclovir

Oxygen if in shock or sats <92% or <95% if clinically indicated

Question 22

How should anti-pyretics in children be used?

Answer 22

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

Question 23

What signs might you tell parents to look out for when managing a child at home with fever?

Answer 23

Signs of dehydration: sunken eyes, sunken fontanelle, dry mouth, absence of tears, poor overall appearance
Non-blanching rash
Check on child at night

Question 24

What advice would you give to parents managing a child at home with a fever?

Answer 24

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

Question 25

When should parents managing a child with a fever at home seek further help?

Answer 25

``` Behaviour change/appears unwell Signs of dehydration Non-blanching rash Fever last>5 days Has seizure Parent distressed/unable to manage/more concerned ```

Question 26

What is the commonest cause of hospital admission for children?

Answer 26

Infection

Question 27

What is the commonest site of infection for children?

Answer 27

Respiratory tract

Question 28

Give some links between viral and bacterial illnesses

Answer 28

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

Question 29

How is chickenpox related to bacterial infections?

Answer 29

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)

Question 30

Why might children with cold sores need admission to hospital?

Answer 30

HSV infection may lead to difficulty swallowing

Question 31

What is the difference to the purpura in HSP vs meningococcal septicaemia?

Answer 31

HSP - purpura are PALPABLE

Question 32

What cardiac health risks are associated with Kawasaki disease? How is this prevented?

Answer 32

Coronary artery inflammation or aneurysms | Prevented by treating Kawasaki disease with HIGH DOSE Ig and ASPIRIN

Question 33

How are children presenting with COVID-19?

Answer 33

3-4 wks post-infection with inflammation in lungs, sepsis-like response Most are not ill during RTI

Question 34

What investigations are part of the septic screen?

Answer 34

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)

Question 35

What organisms cause bacterial meningitis in children under 3 months?

Answer 35

Group B strep E.coli and other coliforms Listeria monocytogenes

Question 36

What organisms cause bacterial meningitis in children 1 months-6 yrs?

Answer 36

Neisseria meningitidis Streptococcus pneumoniae Haemophilus influenzae

Question 37

What organisms cause bacterial meningitis in children over 6 yrs old?

Answer 37

Neisseria meningitidis | Streptococcus pneumoniae

Question 38

How would you treat bacterial meningitis?

Answer 38

Third-generation cephalosporin - Cefotaxime, ceftriaxone (+ Amoxicillin/Ampicillin if under 3 months) (+ dexamethasone if over 3 months)

Question 39

What are some cerebral complications of bacterial meningitis?

Answer 39

``` Hearing loss Local vasculitis - cranial nerve palsies, focal deficit Local cerebral infarction Subdural effusion Hib or pneumococcal meningitis Hydrocephalus Cerebral abscess ```

Question 40

What prophylactic treatment is given to all household contacts of children with bacterial meningitis?

Answer 40

Rifampicin to all household contacts - eradicate nasopharyngeal carriage of meningococcal or Hib meningitis If MenC - give household contacts MenC vaccine

Question 41

What might the LP show on a child with bacterial meningitis that has already been given antibiotics prior to LP?

Answer 41

CSF - raised white cells No organism on culture Do rapid antigen screen and PCR to help if not clinically sure

Question 42

What are the viral causes of meningitis?

Answer 42

Enterovirus Epstein-Barr virus Adenovirus Mumps

Question 43

What investigations can be done in a child to identify meningitis if lumbar puncture contraindicated?

Answer 43

Blood cultures PCR, rapid antigen screens on blood and urine Throat swabs for culture Serological diagnosis 4-6wks after presenting illness

Question 44

How can viral meningitis be diagnosed?

Answer 44

``` LP - culture or PCR of CSF stool culture urine culture nasopharyngeal aspirate throat swabs serology ```

Question 45

If meningitis is atypical or not responding to usual antibiotics and supportive therapy, what should be considered?

Answer 45

Uncommon pathogens e.g. Mycoplasma, or Borrelia burgodorferi, fungal infections - likely in children who are immunodeficient Or aseptic meningitis - malignancy, autoimmune

Question 46

What should be given to any child with fever and purpuric rash?

Answer 46

IM benzylpenicillin

Question 47

What are the different aetiologies of encephalitis/encephalopathy?

Answer 47

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

Question 48

What are the common features in children presenting with encephalitis?

Answer 48

Fever Altered consciousness Seizures

Question 49

How should you manage a child with encephalitis?

Answer 49

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)

Question 50

What is toxic shock syndrome?

Answer 50

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

Question 51

What other features of organ dysfunction may occur in toxic shock syndrome?

Answer 51

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

Question 52

How is toxic shock syndrome managed?

Answer 52

Intensive care support Infection areas debrided surgically Ceftriaxone with Clindamycin Iv Ig

Question 53

What are the characteristics of a meningococcal rash?

Answer 53

Non-blanching on palpation Irregular in size + outline Necrotic centre

Question 54

Where are pneumoccal infections carried and what can they cause?

Answer 54

Commonly carried in nasopharynx of asymptomatic, healthy children, but spread by respiratory droplets Can cause: pharyngitis, otitis media, conjunctivitis, sinusitis, pneumonia, bacterial sepsis, meningitis

Question 55

What diseases may be caused by Haemophilus influenzae B?

Answer 55

Otitis media, pneumonia, epiglottitis, cellulitis, osteomyelitis, septic arthiritis, meningitis. Systemic diseases rare now due to vaccinations

Question 56

What organisms commonly cause impetigo?

Answer 56

Staphylococcus | Group A streptococcus

Question 57

What are the common features of impetigo?

Answer 57

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

Question 58

How can impetigo be treated?

Answer 58

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

Question 59

Other than treating the infection, how else might you manage impetigo?

Answer 59

Advise not to go to school/nursery until lesions are dry | Eradicate nasal carriage with nasal cream mupirocin, chlorhexidine, neomycin

Question 60

What occurs with periorbital cellulitis? What causes it?

Answer 60

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

Question 61

Why should periorbital cellulitis be treated with IV antibiotics promptly (Clindamycin or Amoxicillin)?

Answer 61

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

Question 62

What is scalded skin syndrome?

Answer 62

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

Question 63

How would you manage scalded skin syndrome?

Answer 63

IV anti-staphylococcal antibiotic (e.g. flucloxacillin) Analgesia Monitor fluid balance

Question 64

Give some examples of herpesviruses. What is their common feature?

Answer 64

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

Question 65

How HSV transmitted? What are its typical features?

Answer 65

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

Question 66

How is chickenpox transmitted?

Answer 66

Respiratory droplets, contact with blisters

Question 67

What are the stages of the chickenpox rash?

Answer 67

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

Question 68

What are some complications of chickenpox?

Answer 68

Bacterial superinfection - staph, strep - toxic shock, necrotising fasciitis Central nervous system - cerebellitis, encephalitis Immunocompromised - haemorrhagic lesions, pneumonitis, disseminated infection, DIC

Question 69

How would you treat chickenpox?

Answer 69

Symptomatic Immunocompromised/severe - IV aciclovir or oral valaciclovir, if contact - VZV Ig Adolescents or adults - Valaciclovir

Question 70

What is shingles?

Answer 70

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

Question 71

What are the features of Infectious mononucleosis?

Answer 71

``` Fever, malaise Tonsillopharyngitis Lymphadenopathy - prominent cervical and often diffuse adenopathy Petechiae on soft palate Spleno or hepatomegaly Maculopapular rash Jaundice ```

Question 72

How is infectious mononucleosis diagnosed?

Answer 72

Blood film - atypical lymphocytes Positive Monospot test Seroconversion - production IgM and IgG to EBV

Question 73

How is infectious mononucleosis treated?

Answer 73

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)

Question 74

How is CMV transmitted?

Answer 74

Breast milk or genital secretions | Rare: blood products, organ transplatns, transplacentally

Question 75

What are the features of CMV infection?

Answer 75

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

Question 76

How might CMV be treated?

Answer 76

Disease - ganciclovir or foscarnet (SEs) | Reduce risk of transmission - CMV negative blood transfusions or antiCMV drug prophylaxis

Question 77

What are the features of HHV6 and HHV7?

Answer 77

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

Question 78

What is slapped cheek syndrome?

Answer 78

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

Question 79

What symptoms might you get with slapped cheek syndrome?

Answer 79

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

Question 80

Give some examples of common enteroviruses

Answer 80

Coxsackie Echovirus Poliovirus

Question 81

What is the primary transmission of enteroviruses?

Answer 81

Faecal-oral route

Question 82

What is the course of enterovirus infection?

Answer 82

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

Question 83

How would you manage a child with non-blanching rash, fever but not systemically unwell with suspected enterovirus?

Answer 83

Admit for observation | 48hr parenteral antibiotics (ceftriaxone)

Question 84

What are the clinical syndromes for enteroviruses?

Answer 84

``` Hand, foot and mouth disease Herpangina Meningitis/encephalitis Pleurodynia (Bornholm disease) Myocarditis, pericarditis ```

Question 85

How should measles be diagnosed for epidemiological purposes?

Answer 85

Serology of blood or saliva

Question 86

What are the clinical features of measles?

Answer 86

Fever Cough, coryza Conjunctivitis Malaise Koplik spots (white spots on buccal mucosa) Maculopapular rash (spreads from behind ears to whole of body)

Question 87

What are some serious complications of measles?

Answer 87

Encephalitis 8 days after onset | Subacute sclerosing panencephalitis (SSPE) - loss in neurological function, dementia and death

Question 88

What is the treatment for measles?

Answer 88

Symptomatic Isolated from other children If immunocompromised - Ribavirin, vitamin A

Question 89

How are measles and mumps transmitted?

Answer 89

Respiratory droplets

Question 90

When does mumps usually occur? What is its course?

Answer 90

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

Question 91

What are the clinical features of mumps?

Answer 91

Fever, malaise, parotitis, sometimes subclinical Starts unilateral swelling, then bilateral over few days Ear ache, pain on eating, drinking Abdominal pain if pancreatic involvement

Question 92

What are the complications of mumps?

Answer 92

Pancreatic involvement - raised plasma amylase Hearing loss - usually transient and unilateral Viral meningitis/encephalitis Orchitis - infertility unusual

Question 93

What are the clinical features of rubella?

Answer 93

Dangerous if in foetus - congenital Low-grade fever or none Maculopapular rash starting on face then to body Lymphadenopathy - suboccipital, postauricular

Question 94

What are some possible complications | of mumps?

Answer 94

Arthritis Encephalitis Thrombocytopenia Myocarditis

Question 95

What age group is most commonly affected by Kawasaki disease?

Answer 95

6 months to 4 years

Question 96

How would you diagnose Kawasaki disease?

Answer 96

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

Question 97

How do you treat Kawasaki disease?

Answer 97

High dose aspirin IV Ig in first 10 days If coronary aneurysm - long-term warfarin and follow up Persistent inflammation - infliximab, steroids or ciclosporin

Question 98

Describe the course of TB

Answer 98

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

Question 99

Give some features of TB

Answer 99

non-specific, prolonged fever, malaise, anorexia, weight loss, focal signs of infection

Question 100

How would you diagnose TB in a child

Answer 100

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

Question 101

How do you treat active TB in children?

Answer 101

Initial: rifampicin, isoniazid, pyrazinamide, ethambutol for 2 months Then 4 months: rifampicin and isoniazid After puberty give pyroxidine with isoniazid to prevent peripheral neuropathy

Question 102

How would a person with latent TB be detected and how would you treat them?

Answer 102

Positive mantoux test but no symptoms | Rifampicin and isoniazid for 3 months

Question 103

Which groups are recommended for BCG vaccination at birth?

Answer 103

Asian, African origin TB family member in last 5 years Local area high prevalence rate - do not give to immunocompromised children

Question 104

How would you treat a child who is a contact of someone that has TB?

Answer 104

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

Question 105

How is HIV diagnosed in children?

Answer 105

Before 18 months - IgG HIV from mother is sign of exposure, HIV DNA PCR diagnostic Over 18 months - HIV antibodies

Question 106

What is the course of HIV for most children?

Answer 106

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

Question 107

What is the treatment for HIV?

Answer 107

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

Question 108

How can vertical transmission of HIV be reduced?

Answer 108

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

Question 109

What organism causes Lyme disease?

Answer 109

spirochaete Borrelia burgdorferi, transmitted by the hard tick

Question 110

When is Lyme disease most common?

Answer 110

Summer months in rural settings

Question 111

What are the typical features of Lyme disease?

Answer 111

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

Question 112

How is Lyme disease diagnosed?

Answer 112

Clinical features, serology - may be negative early so repeat 2-4 weeks

Question 113

How is Lyme disease treated?

Answer 113

If over 12 - doxycycline Under 12 - amoxicillin If carditis or neuro - IV ceftriaxone

Question 114

What are the 2 types of immune deficiency in children?

Answer 114

Primary- often X-linked or recessive Secondary - caused by another disease/treatment e.g. HIV, intercurrent infection, immunosuppressants, splenectomy, nephrotic syndrome

Question 115

Give the acronym for how to recognise immune deficiency in children

Answer 115

``` SPUR Severe Prolonged Unusual Recurrent infections (also failure to thrive, lymphadenopathy, splenomegaly) ```

Question 116

What are some forms of management for children with immune deficiencies?

Answer 116

``` 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 ```

Question 117

Describe features of congenital rubella

Answer 117

``` 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 ```

Question 118

What is the more common type of meningococcus in the UK?

Answer 118

Men B

Question 119

What other organisms may cause non-blanching purpuric rash?

Answer 119

Group A strep | Pneumoccocus

Question 120

Why are childrne more vulnerable to infections at 6 months of age?

Answer 120

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

Question 121

How might you test for immune deficiencies?

Answer 121

FBC (WCC, neutrophils, lymphocytes) IgG, A, M, E Response to routine imms Lymphocytes - T, B cells, function

Question 122

What are the live vaccines that should not be given to immunocompromised children?

Answer 122

BCG | MMR, rotavirus, VZV

Question 123

What extra vaccinations may be given to special or immunocompromised groups?

Answer 123

VZV Pneumovax TB Influenza

Question 124

What are the clinical features of whooping cough?

Answer 124

Long inspiratory effort with high pitched "whoop" after cough Numerous rapid coughs as difficult to expel mucus - thick mucus production Cyanosis Vomiting or exhaustion

Question 125

What are the clinical features of diphtheria?

Answer 125

``` Thick grey-white coating at back of throat Fever Sore throat Headache Swollen glands Dyspnoea and dysphagia (often travel history) ```

Question 126

What treatment would you give for diphtheria?

Answer 126

Penicillin or erythromycin

Question 127

How is whooping cough treated?

Answer 127

Antibiotics | If under 6 months admit to hospital

Question 128

What should you always exclude in a child with a fever and travel history?

Answer 128

MALARIA! | If diarrhoea, vomiting and fever - Typhoid

Question 129

What 3 diseases are all pregnant mothers screened for?

Answer 129

HIV, HepB, Syphilis If HIV detected early, foetus may not be affected Transmission HIV is 25% if untreated

Question 130

What are the common clinical features of scarlet fever?

Answer 130

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

Question 131

How is scarlet fever diagnosed?

Answer 131

Clinical findings Throat swabs - Group A strep Measure anti-streptolysin antibodies for post-infection complications (acute rheumatic fever, glomerulonephritis)

Question 132

What is the treatment for scarlet fever?

Answer 132

Amoxicillin 10 days

Question 133

What is a hypersensitivity?

Answer 133

Objectively reproducible symptoms or signs following exposure to a defined stimulus at a dose which is tolerated by normal people

Question 134

What is allergy?

Answer 134

Hypersensitivity reaction initiated by specific immunological mechanisms

Question 135

What is atopy?

Answer 135

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

Question 136

What is anaphylaxis?

Answer 136

Serious allergic reaction that is rapid in onset and may cause death

Question 137

How might allergies be classified?

Answer 137

IgE-mediated | Non-IgE-mediated

Question 138

What is the course of IgE mediated allergic reactions?

Answer 138

``` Early phase (within mins) - histamine + mediator release from mast cells - urticaria, angioedema, sneezing, bronchospasm Late phase - 4-6hrs, nasal congestion, cough, bronchospasm ```

Question 139

How do non IgE mediated allergic reactions compare to IgE mediated allergic reactions?

Answer 139

Non-IgE-mediated have delayed onset of symptoms and more varied clinical course

Question 140

What is the allergic march?

Answer 140

Progression of allergies Infancy - eczema, food allergy Primary school - allergic rhinitis, conjunctivitis, asthma Often precedes asthma

Question 141

What features may suggest a child has an allergy apart from allergic reaction?

Answer 141

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

Question 142

What are the most common food allergies in infancy?

Answer 142

Milk, egg, peanuts

Question 143

What are the most common food allergies in older children?

Answer 143

Peanut Tree nut Fish Shellfish

Question 144

What is oral allergy syndrome?

Answer 144

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

Question 145

What are the typical features of non-IgE-mediated food allergy?

Answer 145

``` Diarrhoea Vomiting Abdo pain, colic Failure to thrive, eczema Proctitis in first few weeks of life may lead to blood in stools ```

Question 146

What are the screening tests for IgE-mediated food allergies?

Answer 146

Skin prick tests | RAST test - measures specific IgE antibodies in blood

Question 147

What are diagnostic tests for non-IgE-mediated food allergies?

Answer 147

Mostly based on clinical picture | If indicated - endoscopic and intestinal biopsies - eosinophillic infiltrates

Question 148

What are the features of allergic rhinitis?

Answer 148

Conjunctivitis and coryza (rhinoconjunctivitis) | Cough-variant rhinitis - if post-nasal drip

Question 149

How would you treat allergic rhinitis?

Answer 149

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)

Question 150

What is angioedema?

Answer 150

Swelling of lower level of skin - lips, eyes, tongue, larynx

Question 151

What are the features of urticaria?

Answer 151

Urticarial rash upper layers | Possible angioedema if lower layers also swell

Question 152

What are the features of acute urticaria?

Answer 152

Resolves within 6wks | Triggered by allergies or infection

Question 153

What are the features of chronic idiopathic urticaria?

Answer 153

Intermittent for at least 6 weeks Non-allergic in origin usually Treat 2nd generation non-sedating antihistamines

Question 154

What causes physical urticaria??

Answer 154

``` Cold Delayed pressure Heat contact Solar Vibratory urticaria ```

Question 155

What are other causes of urticaria?

Answer 155

Water, sweating, exercise-induced Aspirin and NSAIDs C1-esterase inhibitor deficiency (angioedema only)

Question 156

How would you manage anaphylaxis?

Answer 156

ABCDE IM Adrenaline (every 5 mins until recover) Oxygen and IV fluids supportive - SABA, antihistamines, vasopressors, corticosteroids

Question 157

How would you manage atopic eczema in children under 12?

Answer 157

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

Question 158

When to the majority of severe mental illnesses start?

Answer 158

Adolescence

Question 159

Is ASD an environmental disorder?

Answer 159

No, it is a developmental disorder

Question 160

Give some similarities and differences between AMH and CAMHS

Answer 160

Similarities: both deal with severe mental illness and developmental disorders Differences: CAMHS much more development and system framework focused, AMH more focussed on medication

Question 161

What is the triad of symptoms in ASD?

Answer 161

Rituals - routines Unusual/delayed language - odd/stilted, SLT Social difficulty - can't read others emotions, social cues

Question 162

Why might someone with ASD only be diagnosed when older child or adult?

Answer 162

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

Question 163

What is the triad of symptoms for PTSD?

Answer 163

Intrusive sensations/memories/flashbacks Avoidance Anxiety (caused by life-threatening or event threatening integrity of self)

Question 164

Give the features of ADHD

Answer 164

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

Question 165

How is ADHD managed?

Answer 165

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

Question 166

What might signify conduct disorder?

Answer 166

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

Question 167

How might you manage conduct disorder?

Answer 167

Parenting groups | Child group-based problem-solving, anger management

Question 168

Give features of bulimia nervosa

Answer 168

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

Question 169

How is bulimia nervosa managed?

Answer 169

At normal body weight - regular diet, monitor with diary, individual or group CBT

Question 170

How is anorexia nervosa managed?

Answer 170

Refeeding Family therapy!! Individual psychological therapy

Question 171

Give some features of chronic fatigue syndrome

Answer 171

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

Question 172

How is chronic fatigue syndrome managed?

Answer 172

Graded exercise CBT Recovery can take months or yrs

Question 173

How is depression managed in children?

Answer 173

``` 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 ```

Question 174

Give the features of Asperger's syndrome and what it now falls under in diagnosis?

Answer 174

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

Question 175

How is ASD managed?

Answer 175

Applied Behaviour Analysis (25-30hr individual therapy a week) Appropriate educational placement

Question 176

What is development coordination disorder/dyspraxia?

Answer 176

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

Question 177

How is dyspraxia managed?

Answer 177

Assessment and advice from OT SLT if necessary Visual assessment if helpful

Question 178

What is dyslexia?

Answer 178

Disorder of reading skills disproportionate to child's IQ - more than 2 years behind reading age of other children Assessment - vision, hearing, educational psychologist

Question 179

What are the names for disorders of calculation or writing skills?

Answer 179

Dyscalculia - calculation | Dysgraphia - writing

Question 180

Where are lesions for sensorineural and conductive hearing loss?

Answer 180

Sensorineural - cochlea or auditory nerve, usually present at birth Conductive - ear canal, middle ear, often otitis media or effusion

Question 181

What is the prevalence of sensorineural hearing loss and how is it managed?

Answer 181

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

Question 182

Which children are more prone to conductive hearing loss?

Answer 182

Chronic otitis media Down syndrome Cleft palate Atopy

Question 183

How might conductive hearing loss be managed if not transient?

Answer 183

Insertion of grommets (tympanostomy tubes) | Adenoid removal

Question 184

What are the signs of otitis media?

Answer 184

``` 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 ```

Question 185

What causes otitis media?

Answer 185

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

Question 186

What is otitis media with effusion?

Answer 186

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

Question 187

What is chronic suppurative otitis media?

Answer 187

Ear infection that does not go away with normal treatment. May lead to perforation of eardrum and pus draining from ear

Question 188

How would you manage otitis media?

Answer 188

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

Question 189

What are the features of otitis externa?

Answer 189

Pain and swelling in ear canal (swimmer's ear) Red ear canal Discharge of liquid or pus from ear Temporary hearing loss

Question 190

How would you manage otitis externa?

Answer 190

Cleansing - usually resolves Corticosteroid ear drops or aluminium acetate solution Chloramphenicol ear drops Oral antibiotics if spreading cellulitic infection/unwell

Question 191

What is mastoiditis?

Answer 191

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

Question 192

How is mastoiditis managed?

Answer 192

Refer to ENT specialist Antibiotic treatment - possibly IV Bloods and ear culture Surgery - myringotomy (drain middle ear) or remove part of mastoid bone (mastoidectomy)

Question 193

What are the potential complications of mastoiditis?

Answer 193

Hearing loss Meningitis Blood clot Brain abscess

Question 194

Give some epidemilogical features of self-harm in children

Answer 194

10% will self-harm Female to male ratio 4:1 Highest in levels of poverty 3rd most common cause of death in adolescents worldwide

Question 195

What treatments might you offer for children that are self-harming?

Answer 195

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

Question 196

Give the features of Cavernous haemangioma and its alternative name

Answer 196

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

Question 197

How would you treat haemangiomas if they are in an awkward place or keep growing?

Answer 197

Beta blockers

Question 198

What are some side effects of long-term beta blocker use for children?

Answer 198

hypoglycaemia bradycardia Reduced vascular development of brain so longer

Question 199

What is another name for a port wine stain birthmark? What are its features?

Answer 199

Capillary haemangioma Present at birth, doesn't go away Dark red, purple discolouration irregular outline on face

Question 200

What is another name for a mole? What are its features?

Answer 200

Also called naevus Dark spot. Turners syndrome have lots of them but normal too. Only harmful if sun damage and become cancerous

Question 201

What are mongolian blue spots?

Answer 201

Bruise-like spots, common in children with darker skin | Remains throughout life and normal

Question 202

What is a cafe au lait spot?

Answer 202

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

Question 203

What are yellowish spots on the nose of a baby that's just been born?

Answer 203

Milia (milk spots) | Normal and disappear after a few weeks

Question 204

What are the features of erythema toxicum neonatorum?

Answer 204

Spots surrounded by red area on newborn - normal and common in neonates check child is well - otherwise could be a staph infection

Question 205

What does CCCK stand for in measles? What are typical features of rash?

Answer 205

Cough, Coryza, Conjunctivitis, Koplik spots Angry rash, often includes mouth and eyes Maculopapular rash, then becomes blotchy and confluent. Desquamates in 2nd week

Question 206

Describe the rash in rubella

Answer 206

Starts on face and spreads | Vague, lacy, ill-defined, not itchy

Question 207

What virus causes hand, foot and mouth disease? What are the features of this disease?

Answer 207

Coxsackie virus Sore throat, then mouth ulcers, tender red lumps on hand and feet which can blister Clears in 7-10 days

Question 208

What is another name for exanthem subitem? What virus causes it? What are the rash features?

Answer 208

Roseola infantum HHV6 Non-specific rash which usually appears as child gets better from fever, headache, miserable, possible convulsions

Question 209

What causes eczema herpeticum? What are the problems with this and how should it be treated?

Answer 209

HSV Can be disfiguring, and dangerous especially if in eyes Acyclovir or prophylactic acyclovir if immunocompromised

Question 210

Give the features of molluscum contagiosum

Answer 210

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)

Question 211

How might warts be treated? What is the causative organism

Answer 211

Topical podophyllum or cryotherapy | HPV

Question 212

What investigations might you do if there is a large red swelling on a child's neck? How would you treat?

Answer 212

``` Bloods USS - to find infection centre If abscess - drain Cellulitis - antibiotics Lymphadenitis - find cause ```

Question 213

How might you treat scalded skin syndrome?

Answer 213

Blood MC+S Differentiate between staph and strep or treat both of these Flucloxacillin, cephalosporin or Clindamycin may be used

Question 214

Give the features of the rash in HSP

Answer 214

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

Question 215

What investigations might you do in a child presenting with HSP?

Answer 215

Check blood pressure Urinalysis To check kidney disease (haematuria or proteinuria)

Question 216

What is the main causative organism of erysipelas?

Answer 216

Group a beta haemolytic strep (S.pyogenes) | Can also get staph

Question 217

How does erysipelas vary from cellulitis (which is mostly staph)

Answer 217

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

Question 218

What are the main childhood infections predominantly caused by Group A strep?

Answer 218

Tonsilitis - can lead to glomerulonephritis Scalded skin syndrome Erysipelas Scarlet fever

Question 219

What is acanthosis nigrans?

Answer 219

Darkening rash common in axilla or back of neck | Found in minority ethnicities and in diabetes

Question 220

What is the name for a fungating mass on a child's head that weeps and has surrounding hair loss? What is causative agent?

Answer 220

Tinea capitis If in other areas would be called tinea...then body part Caused by RINGWORM

Question 221

How would you treat tinea capitis, or other ringwom infections?

Answer 221

Oral anti-fungal (Griseofulvin 6-8wks)

Question 222

What are the typical features of nappy rash?

Answer 222

Irritant dermatitis/ammoniacal nappy rash Red Rash - CREASES SPARED Affects convex surface of buttocks, perineum, lower abdomen and top of thighs

Question 223

How would you treat nappy rash?

Answer 223

Mild - emollient Severe - mild topical corticosteroid If candida complication - topical antifungal agent e.g. clotrimazole

Question 224

How might you spot candida infection in nappy rash?

Answer 224

Erythematous rash which INCLUDES skin flexures | Satellite lesions

Question 225

Where else might babies commonly get candida? How would you treat?

Answer 225

Mouth and mother's nipples - oral thrush | Miconazole gel

Question 226

What are the symptoms of congenital toxoplasmosis?

Answer 226

Microcephaly Low birthweight Retinal lesions Seizures

Question 227

How might you reduce nits and lice in children's hair?

Answer 227

Hair conditioner - leave it on, repeat every few days for a few weeks

Question 228

What are the features of Scabies infection?

Answer 228

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!

Question 229

How do you treat scabies?

Answer 229

Permethrin cream or malathion lotion over whole body Repeat treatment after 1 week Treat whole family/household twice too

Question 230

What is a torn frenulum a typical sign of?

Answer 230

Force-feeding with spoon/bottle

Question 231

What is Frey's syndrome?

Answer 231

Redness over side of face during breast-feeding in forceps delivered babies Type of urticaria

Question 232

What distribution of rashes should be suspicious of abuse?

Answer 232

Symmetrical, linear Unusual presentation, unexplained Look for bruising, petechiae to understand mechanism of injury

Question 233

When should you suspect NAI?

Answer 233

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

Question 234

What are the different type of disorders under paediatric haematology?

Answer 234

Anaemia - iron deficiency, haemolytic Bone marrow failure Bleeding disorders Thrombosis in children

Question 235

When is the trough of Hb in babies? Why?

Answer 235

around 8 weeks - foetal Hb has fallen, takes a while for adult Hb production to compensate

Question 236

What are is mean cell volume like after birth?

Answer 236

High after birth, then falls over time

Question 237

How does the proportion of white cells vary between babies, toddlers and adults?

Answer 237

Babies - HIGH WCC, neutrophils>lymphocytes Toddlers - lymphocytes>neutrophils Adults - neutrophils>lymphocytes

Question 238

What are the branches of leukocytes?

Answer 238

Agranulocytes - lymphocytes, monocytes | Granulocytes - neutrophils, basophils, eosinophils

Question 239

What other end products from bone marrow production apart from leukocytes?

Answer 239

erythrocytes | thrombocytes

Question 240

What stimulates bone marrow to produce RBC?

Answer 240

erythropoietin from the kidneys

Question 241

How would you check if anaemia is due to loss/destruction of RBC or decreased RBC production?

Answer 241

Reticulocyte count Loss/destruction = HIGH Decreased production = LOW or NORMAL

Question 242

How do RBCs appear on blood smear in iron deficiency anaemia?

Answer 242

Microcytic and hypochromic

Question 243

What might cause normocytic anaemia?

Answer 243

Acute blood loss Renal failure Chronic inflammation Erythroblastocytopenia of childhood

Question 244

What might cause macrocytic anaemia?

Answer 244

B12 and folate deficiency (unusual in children unless vegan) Hypothyroidism Bone marrow failure

Question 245

What are other causes of microcytic anaemia?

Answer 245

Iron deficiency - most common UK Thalassaemia Sideroblastic anaemia - heavy metal poisoning Anaemia of chronic disease

Question 246

Give examples of causes of loss of RBC that can cause anaemia

Answer 246

Bleeding Burns Splenomegaly (often have low platelet and WCC too)

Question 247

What investigations might suggest haemolytic anaemia?

Answer 247

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

Question 248

What are two mechanisms of haemolysis of RBC?

Answer 248

Intrinsic - problem with membrane or enzyme | Extrinsic - immune mediated, drugs, mechanical in clotting, DIC, HUS, TTP, malaria

Question 249

What is a membrane disorder of RBC than can lead to intrinsic haemolytic anaemia?

Answer 249

Hereditary Spherocytosis

Question 250

What is the inheritance pattern of hereditary spherocytosis?

Answer 250

``` Autosomal dominant (occurs in Caucasians) May be no family history in 25% as is caused by new mutations ```

Question 251

What is the pathophysiology of hereditary spherocytosis?

Answer 251

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

Question 252

What are the clinical features of hereditary spherocytosis?

Answer 252

Jaundice Anaemia Splenomegaly Aplastic crisis (transient 2-4wks due to parvovirusB19) Gallstones - due to increased bilirubin excretion

Question 253

How is hereditary spherocytosis diagnosed?

Answer 253

Blood film - spheroidal cells | Coomb's test - to exclude autoimmune haemolytic anaemia which has spherocytes when absence of FH

Question 254

How is hereditary spherocytosis managed?

Answer 254

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

Question 255

What is the commonest enzyme disorder causing intrinsic haemolytic anaemia?

Answer 255

Glucose-6-phosphate dehydrogenase deficiency | G6PD

Question 256

What is the inheritance pattern like for G6PD?

Answer 256

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!!

Question 257

What is the pathophysiology of G6PD?

Answer 257

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

Question 258

What are the clinical features of G6PD?

Answer 258

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

Question 259

How is G6PD diagnosed?

Answer 259

Usually normal between episodes Measure G6PD activity in RBC (can be falsely raised in haemolytic crisis) Blood film - blister cells, bite cells, Heinz bodies

Question 260

How is G6PD managed?

Answer 260

Give advice about triggers of crises - antimalarials, sulphonamides, quinolones, nitrofurantoin, high dose aspirin, naphthalene, divicine (fava beans) Transfusions rarely required even in crises

Question 261

Why is iron deficiency anaemia more common in children?

Answer 261

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)

Question 262

What are the clinical features of iron deficiency anaemia?

Answer 262

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

Question 263

What are the diagnostic cues for iron deficiency anaemia?

Answer 263

Microcytic, hypochromic anaemia Low MCV and Low MCH Low serum ferritin and high TBC

Question 264

How is iron deficiency anaemia managed?

Answer 264

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

Question 265

How would you treat iron deficiency with normal Hb?

Answer 265

Low serum ferritin but no anaemia Dietary advice to increase oral iron intake and absorption Supplements controversial - offer as option

Question 266

What are 3 causes of red cell aplasia?

Answer 266

Congenital red cell aplasia - Diamond-Blackfan anaemia Transient erythroblastopenia of childhood Parvovirus B19 infection (only causes red cell aplasia if also have haemolytic anaemia)

Question 267

What are the diagnostic cues of red cell aplasia?

Answer 267

Low reticulocyte count Abnormal red cell precursors on bone marrow Normal bilirubin Negative direct antiglobulin test (Coombs test)

Question 268

What are the most common haemoglobinopathies worldwide?

Answer 268

Sickle Cell Disease | Beta Thalassaemia

Question 269

What chains compose: a) normal adult Hb? (HbA) b) foetal Hb? (HbF) c) HbA2?

Answer 269

a) 2 alpha, 2 beta b) 2 alpha, 2 gamma c) 2 alpha, 2 delta

Question 270

What composition of Hb is in a normal adult or child?

Answer 270

Mostly HbA, a little HbF and some HbA2

Question 271

What is the pathophysiology of sickle cell disease?

Answer 271

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

Question 272

What is the inheritance pattern of sickle cell disease?

Answer 272

Autosomal recessive | African-Carribean or Middle East origins more common

Question 273

What alleles cause sickle cell anaemia?

Answer 273

HbSS - homozygous for HbS, sickle mutation in both beta globin chains Small amount HbF NO HbA

Question 274

What are the features of HbSC?

Answer 274

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

Question 275

What are the features of Sickle-thalassaemia?

Answer 275

Inherit HbS from one parent, and beta thalassaemia from another No normal beta globin chains so no HbA Similar symptoms to sickle cell anaemia

Question 276

What are the features of sickle trait?

Answer 276

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

Question 277

What are the clinical features of sickle cell disease?

Answer 277

Anaemia, jaundice Infections - hyposplenism due to microinfarction Painful crises - vaso-occlusion Acute anaemia - haemolytic, aplastic, sequestration spleen/liver Priapism - exchange transfusion needed Splenomegaly

Question 278

What are some long-term problems for those with sickle cell disease?

Answer 278

``` 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 ```

Question 279

What different types of painful crises in SCD can occur?

Answer 279

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

Question 280

What occurs in sequestration crises in SCD?

Answer 280

Hepato or splenomegaly Abdominal pain Circulatory collapse Sequestration of sickled cells in spleen

Question 281

How would you treat acute crises in SCD?

Answer 281

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

Question 282

How would you treat chronic problems with SCD?

Answer 282

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

Question 283

What is the screening process for SCD?

Answer 283

Guthrie test or chorionic villus sampling end of 1st trimester Early diagnosis - penicilllin prophylaxis in early infancy

Question 284

What are the features of SC disease?

Answer 284

Nearly normal Hb level and fewer painful crises than HbSS May develop proliferative retinopathy in adolescence - check eyes Osteonecrosis of hips and shoulders

Question 285

What ethnicities are more prone to beta thalassaemia?

Answer 285

India, Middle East and Mediterranean

Question 286

What are the 2 types of beta thalassaemia and what are their differences?

Answer 286

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

Question 287

What are the clinical features of beta thalassaemia?

Answer 287

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

Question 288

How is beta thalassaemia managed?

Answer 288

Regular blood transfusions (aim to keep Hb> 10) Iron chelation - for iron overload risk with repeated blood transfusions Major - may have bone marrow transplant

Question 289

What is the inheritance pattern for beta thalassaemia? | How is b thalassaemia screened for?

Answer 289

Autosomal recessive | All pregnant women offered screening test, if high risk can have CVS to diagnose antenatally

Question 290

What are the features of being a beta thalassaemia carrier/ B thalassaemia trait?

Answer 290

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

Question 291

Give the different types of alpha thalassaemia

Answer 291

A thalassaemia major (Hb Barts hydrops fetalis) HbH disease A thalassaemia trait

Question 292

What occurs in alpha thalassaemia major?

Answer 292

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

Question 293

What occurs in HbH disease?

Answer 293

3 alpha globin chains are deleted Mild-moderate anaemia Some are transfusion-dependent

Question 294

What occurs in alpha thalassaemia trait?

Answer 294

1 or 2 alpha globin chains deleted Asymptomatic, or mild/absent anaemia RBC may be hypochromic or microcytic - can cause confusion with iron deficiency

Question 295

What types of pathology can cause haemolytic anaemia in the newborn?

Answer 295

1. Immune-mediated (haemolytic anaemia of newborn) 2. Red cell membrane disorders 3. Red cell enzyme disorders 4. Haemoglobinopathies

Question 296

What are the diagnostic cues of haemolytic anaemia?

Answer 296

High reticulocyte count | Unconjugated bilirubinaemia

Question 297

What causes immune-mediated haemolytic anaemia of the newborn?

Answer 297

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

Question 298

What is the diagnostic test for immune-mediated (blood group) haemolytic anaemia?

Answer 298

Coomb's test (direct antiglobulin test)

Question 299

Why do haemoglobinopathies rarely present in the neonatal stage?

Answer 299

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

Question 300

What are the main causes of blood loss on foetuses/neonates?

Answer 300

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)

Question 301

What causes anaemia of prematurity?

Answer 301

Inadequate EPO production Reduced red cell lifespan Frequent blood sampling while in hospital Iron and folic acid deficiency (after 2-3 mnths)

Question 302

What are the features of aplastic anaemias? | What can cause acquired aplastic anaemia?

Answer 302

Features - anaemia (RBC), Infection (WCC) and bruising/bleeding (platelets) Acquired- hepatitis virus, drugs (sulphonamides, chemo), toxins (benzene, glue), idiopathic

Question 303

Give the names of two inherited aplastic anaemias

Answer 303

Fanconi anaemia | Shwachman-Diamond syndrome

Question 304

Give the features of Fanconi anaemia

Answer 304

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

Question 305

Give some acquired causes of bleeding disorders

Answer 305

Vit K deficiency Liver damage/failure Thrombocytopenia - immune, DIC

Question 306

Give some inherited causes of bleeding disorders

Answer 306

Haemophilia A Haemophilia B Von Willebrand disease (vWD)

Question 307

What is the inheritance pattern for Haemophilia A and B?

Answer 307

X-linked recessive

Question 308

What factors are deficient in a) haemophilia A? b) haemophilia B?

Answer 308

a) Factor VIII | b) Factor IX

Question 309

What are the results for PT and APTT like in haemophilia?

Answer 309

PT - normal | APTT - raised

Question 310

What are the clinical features of haemophilia?

Answer 310

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

Question 311

What is the management for Haemophilia A and B?

Answer 311

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)

Question 312

What is the inheritance pattern of Von Willebrand Disease?

Answer 312

Autosomal dominant (usually)

Question 313

What is the pathophysiology of vWD?

Answer 313

``` 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 ```

Question 314

What are the clinical features of vWD?

Answer 314

``` Bruising Excessive or prolonged bleeding after surgery Mucosal bleeding (epistaxis and menorrhagia) ```

Question 315

What is the management of vWD?

Answer 315

Type 1 - Desmopressin, beware hyponatraemia Severe types - plasma-derived FVIII concentrate Avoid IM injections, NSAIDs, aspirin

Question 316

What is the commonest cause of thrombocytopenia in childhood?

Answer 316

Immune thrombocytopenia | Destruction of platelets by anti-platelet IgG, but increased megakaryocytes in bone marrow to compensate

Question 317

What are the clinical features of Immune thrombocytopenia?

Answer 317

2-10 yrs, often 1-2wks post-viral petechiae, bruising, purpura, epistaxis, mucosal bleeding Intracranial bleeding serious but rare

Question 318

How is immune thrombocytopenia diagnosed?

Answer 318

by exclusion | Rule out inherited conditions, bone marrow examination to rule out ALL before starting steroids

Question 319

How is ITP managed?

Answer 319

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

Question 320

What is the pathophysiology of disseminated intravascular coagulation?

Answer 320

Coagulation pathway activation - diffuse fibrin deposition in microvasculature and consumtion of coagulation factors and platelets Causes - severe sepsis/shock Acute or chronic

Question 321

What are the clinical features of DIC?

Answer 321

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

Question 322

What is the management of DIC?

Answer 322

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

Question 323

What are some congenital prothrombotic disorders?

Answer 323

``` Protein S deficiency Protein C deficiency Antithrombin deficiency Factor V Leiden Prothrombin Gene mutation ```

Question 324

What are acquired thrombotic disorders?

Answer 324

``` Catheter-related thrombosis DIC Hypernatraemia Polycythaemia Malignancy SLE ```

Question 325

What is the commonest cause of thrombocytopenia?

Answer 325

Idiopathic thrombocytopenic purpura

Question 326

What leukaemias are most common in children?

Answer 326

Acute Lymphoblastic Leukaemia Then Acute Myeloid Leukaemia

Question 327

What is the cause of malignancy in ALL?

Answer 327

White blood cells - multiply out of control

Question 328

What are the clinical features of ALL?

Answer 328

Peak = 4-7yrs Infiltration WCC - splenomegaly, hepatomegaly, lymphadenopathy Bone marrow failure - anaemia, thrombocytopenia, increased risk of infection

Question 329

What is the prognosis for ALL?

Answer 329

>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

Question 330

What is the prognosis for AML?

Answer 330

>70% long term survival

Question 331

What might be some late effects of cancer treatment/chemotherapy?

Answer 331

``` Psychological, Family and Social School achievement Organ dysfunction Second malignancy Fertility Endocrine/puberty ```

Question 332

Give 2 definitoins of faltering grwoth

Answer 332

1. Failure to gain adequate weight or achieve adequate growth during infancy or early childhood 2. Significant interruption in expected growth rate compared with other children of similar age and sex during early childhood

Question 333

What are the thresholds for faltering growth depending on birth weight?

Answer 333

<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)

Question 334

How often should you check weight and height if concerned about growth?

Answer 334

<1 mnth = daily 1-6mnth = weekly 6-12mnths = every 2 weeks >1yr = monthly

Question 335

What normally happens to weight in neonates?

Answer 335

Lose weight in first 3-4 days (up to 10%) | Usually regain to birth weight by 3 weeks of age

Question 336

How would you assess a child that has lost more than 10% birthweight in first few days of life?

Answer 336

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)

Question 337

How would you assess faltering growth in a child over 2 years old?

Answer 337

BMI <2nd centile = undernutrition or small build <0.4th centile = undernutrition that needs assessment

Question 338

What are physical risk factors for faltering growth?

Answer 338

``` Prematurity Neurodevelopmental concerns GORD Low birth weight Poor oral health, dental caries Tongue-tie Congenital abnormalities - Down's, cerebral palsy ```

Question 339

What are psychological risk factors for faltering growth?

Answer 339

``` Disordered feeding techniques Family stressors Parental/family abuse/violence Post-partum depression/anxiety Poverty ```

Question 340

Give some examples of causes of poor dietary intake in children, leading to faltering growth

Answer 340

``` Ineffective suckling/bottle-feeding Problematic feeding patterns/routines Feeding environment Parent/carer interactions Physical disorders affecting feeding ```

Question 341

How might you manage poor feeding?

Answer 341

``` 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 ```

Question 342

Why do babies have more GORD than children or adults?

Answer 342

Oesophageal sphincter does not close fully | Unpleasant feeling, can lead to feed refusal/oral aversion later

Question 343

What might cause malabsorption in a young child?

Answer 343

``` Anaemia Biliary atresia Coeliac disease chronic GI condition, gastroenteritis CF Inherited metabolic disorder Cow's milk protein allergy Pancreatic cholestatic conditions ```

Question 344

How would you diagnose coeliac disease?

Answer 344

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

Question 345

What are the different causes of gastroenteritis?

Answer 345

Bacterial e.g. campylobacter Enterovirus - e.g. coxsackie Parasitic e.g. Giardia Other e.g. post-infective, mucosal inflammation, secondary dissacharide deficiency

Question 346

What is Toddler's diarrhoea?

Answer 346

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

Question 347

What symptoms do you get with cow's milk protein allergy?

Answer 347

Failure to thrive Vomiting GORD Colitis - Bloody stools and diarrhoea

Question 348

What might cause XS use of energy leading to failure to thrive?

Answer 348

``` Chronic infections Chronic lung disease of prematurity Hyperthyroidism Congenital heart disease Inflammatory conditions Malignancy Renal failure Growth hormone problems Psychosocial ```

Question 349

What psychological disorder may lead to undernutrition and faltering growth?

Answer 349

Avoidant or Restrictive Food Intake Disorder (ARFID) - dependence on nutritiional supplements - affects day to day life

Question 350

What condition may show an aphthous ulcer on ileo-caecal valve?

Answer 350

Crohn's

Question 351

What are the 4 branches of a development assessment?

Answer 351

Gross Motor Fine Motor and Vision Speech, Language and Hearing Social and Self-Care

Question 352

Give some examples of primitive reflexes

Answer 352

``` Moro Grasp Rooting - head turns to stimulus when touched near mouth Stepping response Asymmetrical tonic neck reflex (Galant) ```

Question 353

Give some postural reflexes

Answer 353

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

Question 354

By what age should primitive reflexes disappear?

Answer 354

6 months

Question 355

What would be considered a global development impairment?

Answer 355

Delay in more than 2 domains

Question 356

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

Answer 356

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

Question 357

What are fine motor milestones at a) 4-6 months b) 8 months c) 10-12 months d) 18 months e) 2-5yrs

Answer 357

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

Question 358

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

Answer 358

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

Question 359

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

Answer 359

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

Question 360

When are assessments done as part of the Healthy Child Programme?

Answer 360

``` Newborn examination- within 72hrs 14 days old - new baby review 6-8 wks examination 1 yr old 2-2.5yrs old ```

Question 361

What are some concerning development signs for gross motor development?

Answer 361

Not sitting without support by 1 year | Not walking by 18 months - check CK for muscular dystrophy

Question 362

What are some concerning development signs for fine motor?

Answer 362

Hand preference before 18 months - possible cerebral palsy

Question 363

What are some concerning development signs for speech and hearing?

Answer 363

No clear words by 18 months - e.g.glue ear, hearing loss, learning disability

Question 364

What are some concerning social development signs?

Answer 364

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?

Question 365

What are some red flags in child development?

Answer 365

``` Regression Poor health Dysmorphic features Signs of abuse Significant family history Always find out about birth history - premature babies tend to have developmental delay ```

Question 366

What limits characterise mild, moderate and severe global developement impairment?

Answer 366

Mild - <33% below chronological age Moderate - 34-55% below chronical age Severe >66% below chronological age

Question 367

What are some clinical features of muscular dystrophy?

Answer 367

Possible microcephaly Sloping forehead, posture, gait Gower's sign - longer to stand from sitting on floor (hip girdle weakness)

Question 368

What type of dysmorphic features may present in Down's syndrome?

Answer 368

``` 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 ```

Question 369

What are the clinical features of Neurofibromatosis type 1 (NF1)

Answer 369

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

Question 370

What are the predominant features of NF2?

Answer 370

bilateral acoustic neuromata - deafness Cerebellopontine angle syndrome - facial nerve paresis Both NF1 and NF2 associated with multiple endocrine neoplasia (MEN) syndromes

Question 371

What are the non-neurological features of Tuberous sclerosis?

Answer 371

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

Question 372

What are neurological features of Tuberous sclerosis?

Answer 372

Infantile spasms Developmental delay Epilepsy - often focal Intellectual impairment

Question 373

What does a port-wine stain in the ophthalmic distribution suggest?

Answer 373

Sturge-Weber syndrome

Question 374

What investigation is done to identify Sturge-Weber syndrome and what are its neurological features?

Answer 374

XR = calcification of gyri "rail road track" but use MRI instead now! Neuro - epilepsy, learning disability, hemiplegia, glaucoma risk

Question 375

What are the features of Williams syndrome?

Answer 375

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

Question 376

How are Prader-Willi and Angelman syndrome related?

Answer 376

Both are due to abnormalities in chromosome 15, q11-13 Prader-Willi is paternal chromosome Angelman syndrome is maternal chromosome

Question 377

What are the features of Prader-Willi syndrome?

Answer 377

Hypotonia Developmental delay Hyperphagia Obesity

Question 378

What are the features of Angelman syndrome?

Answer 378

``` Severe cognitive impairment Ataxia Epilepsy Pointed chin, wide teeth, protruding tongue, deep set eyes "happy puppet syndrome" ```

Question 379

What is a de novo deletion?

Answer 379

Parental chromosomes are normal and deletion occurs as a new mutation in the child

Question 380

What is uniparental disomy?

Answer 380

Both chromosomes inherited but from one parent only

Question 381

What are the features of Smith-Magenis syndrome?

Answer 381

Aggressive behaviour, no dysmorphic features | Often taken to CAMHS instead of genetic testing

Question 382

What are features of Rett syndrome?

Answer 382

Normal until 9-10months | Acute regression, poor hand movements and epileptic seizures

Question 383

What features can be seen in opsoclonus myoclonus syndrome and what differential must you consider?

Answer 383

Upward fluttering eye movements | Associated with neuroblastoma - do catecholamine urine test and CT scan

Question 384

What are typical features of tic disorders?

Answer 384

Head goes back, eyes roll and flutter involuntarily but remain conscious

Question 385

What are the features of shuddering attacks?

Answer 385

Benign, non-epileptic attacks usually in infancy | Resolve after 2 years

Question 386

What features do you get in Horner's syndrome?

Answer 386

unilateral ptosis, miosis, anhidrosis, anophthalmos Problem with autonomic nervous system Find if pre-ganglionic or post-ganglionic as treatment differs

Question 387

What is a febrile seizure?

Answer 387

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

Question 388

Give some common features of febrile seizure

Answer 388

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

Question 389

What should be the acute management of a febrile seizure?

Answer 389

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

Question 390

What are the causes of paroxysmal disorders?

Answer 390

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

Question 391

What occurs in atonic seizures?

Answer 391

Generalised seizure, myoclonic jerk followed by transient loss of muscle tone causing sudden fall to floor or drop of the head

Question 392

What type of epileptic seizure occurs in 4-6 months?

Answer 392

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

Question 393

What are the EEG findings for West syndrome?

Answer 393

Hypsarrhythmia, chaotic pattern of high-voltage slow waves and multi-focal sharp wave discharges Most lose skills and develop learning disability or epilepsy

Question 394

How would you treat West syndrome seizures?

Answer 394

Vigabatrin | Corticosteroids

Question 395

What type of seizures might you get with Lennox-Gastaut syndrome? What age does it present?

Answer 395

``` 1-3yrs Mostly drop attacks but many types (astatic seizures) Tonic seizures and atypical absences Regression and behavioural disorder Poor prognosis, other neuro features ```

Question 396

Give common presenting features of childhood absence seizures

Answer 396

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

Question 397

What EEG findings are there in childhood absence seizures? How would you treat them?

Answer 397

3Hz spike and wave complexes, bilaterally synchronous during and sometimes between episodes Treat - valproate, ethosuximide (NOT CARBAMAZEPINE) 2nd line - lamotrigine

Question 398

What is the prognosis for childhood absence epilepsy?

Answer 398

Good, 95% remission in adolescence | 5-10% develop tonic-clonic seizures as adults

Question 399

What occurs in benign epilepsy with centrotemporal spikes?

Answer 399

Presents 4-12yrs Tonic-clonic seizures in sleep Simple focal seizures - abnormal tongue feeling and distortion round face

Question 400

What EEG findings are there in BECTS?

Answer 400

Focal sharp waves from Rolandic or centrotemporal area. Benign and may not require treatment. Remits in adolescence

Question 401

What occurs in early onset benign childhood occipital epilepsy?

Answer 401

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

Question 402

What are the features of juvenile myoclonic epilepsy?

Answer 402

Adolescence to adulthood Myoclonic seizures, but also tonic-clonic and absence possible. Mostly shortly after waking "morning clumsiness" Learning unimpaired

Question 403

What is the prognosis of juvenile myoclonic epilepsy?

Answer 403

Good response to treatment but LIFELONG | Remission unlikely

Question 404

What are the first and second line treatments for tonic-clonic seizures?

Answer 404

``` 1st = valproate, carbamazepine 2nd = lamotrigine, topiramate ```

Question 405

What are the 1st and 2nd line treatments for absence seizures?

Answer 405

``` 1st = valproate, ethuosuximide 2nd = lamotrigine ```

Question 406

What are the 1st and 2nd line treatments for myoclonic seizures?

Answer 406

``` 1st = valproate 2nd = lamotrigine ```

Question 407

What are the 1st and second line treatments for focal seizures

Answer 407

``` 1st = carbamazepine, valproate, lamotrigine 2nd = topiramate, levetiracetam, oxcarbazepine, gabapentin, tigabine, vigabatrin ```

Question 408

What are common features of frontal lobe seizures?

Answer 408

motor symptoms from distal limb to ipsilateral face (Jacksonian march) Bow and arrow posture Then tonic-clonic seizure

Question 409

What seizure occurs in hyperekplexia?

Answer 409

Tap baby on head, starts jerking, tonic phase, apnoeic, becomes cyanotic Abort by flexing neck - baby breathes again

Question 410

What is motor stereotypy?

Answer 410

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

Question 411

What is status dystonicus in cerebral palsy?

Answer 411

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

Question 412

What is cerebral palsy?

Answer 412

Abnormality of movement and posture | Causes activity limitation due to non-progressive disturbances that occurred in developing foetal or infant brain.

Question 413

Why might cerebral palsy show regression?

Answer 413

Lesion is not progressing but as functions become more complex with age and normal development, lack of development becomes more obvious

Question 414

What are the causes of cerebral palsy?

Answer 414

80% antenatal - vascular occlusion, cortical migration disorders, structural maldevelopment of brain inutero 10% - hypoxic-ischaemic injury during delivery 10% - postnatal

Question 415

What can cause cerebral palsy in preterm infants?

Answer 415

Brain damage from periventricular leukomalacia (PVL) | PVL secondary to ischaemia or intraventricular haemorrhage

Question 416

What are some postnatal causes of cerebral palsy?

Answer 416

``` Meningitis/encephalitis/encephalopathy Head trauma Hypoglycaemia Hydrocephalus Hyperbilirubinaemia ```

Question 417

What are the early clinical presenting features of cerebral palsy?

Answer 417

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

Question 418

What are the 3 main clinical subtypes of cerebral palsy?

Answer 418

Spastic Dyskinetic Ataxic (hypotonic) or mixed!

Question 419

What are the features of spastic cerebral palsy?

Answer 419

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

Question 420

What are the features of dyskinetic cerebral palsy?

Answer 420

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

Question 421

What are the features of ataxic (hypotonic cerebral palsy)

Answer 421

Genetic, or cerebellar injury Early trunk and limb hypotonia, poor balance, delayed motor development Incoordination, intention tremor, ataxic gait later

Question 422

Give the different types of manifest squint

Answer 422

``` Obvious deviation without cover Exotropia - eye deviated laterally Esotropia - eye deviated medially Hypertropia - eye deviated upwards Hypotropia - eye deviated downwards ```

Question 423

What is a latent squint and give the different types

Answer 423

``` Latent squint - no deviation but deviates under cover Exophoria - deviated laterally Esophoria - deviated mediatlly Hyperphoria - deviated upwards Hypophoria - deviated downwards ```

Question 424

What causes strabismus?

Answer 424

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

Question 425

If eye misalignments in neonates, should you be concerned?

Answer 425

Possibly but could be transient and stop at 4 months

Question 426

How might you assess deviation of eyes initially?

Answer 426

Corneal reflection test - see if symmetrical

Question 427

What test would you do after corneal reflections in strabismus?

Answer 427

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!

Question 428

Why is early identification and treatment of strabismus important?

Answer 428

May be neurological problem - if paralytic! | If not - can go on to develop AMBLYOPIA causing functional difficulties

Question 429

How is non-paralytic strabismus often treated? | What does persistent decreased visual acuity after this treatment suggest?

Answer 429

Corrective glasses Amblyopia if persistent poor acuity Other - orthoptic exercises, prisms, extraocular muscle surgery, botulinum toxin injection muscles

Question 430

How is amblyopia investigated and managed?

Answer 430

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)

Question 431

What feature suggests paralytic strabismus?

Answer 431

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...

Question 432

What occurs in glue ear?

Answer 432

``` 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 ```

Question 433

What maternal disorders can cause congenital heaert diease?

Answer 433

Rubella - peripheral pulmonary stenosis, PDA SLE - complete heart block Diabetes - increased incidence

Question 434

What maternal drugs can cause congenital heart disease?

Answer 434

Warfarin - pulmonary valve stenosis, PDA | Fetal alcohol syndrome - ASD, VSD, tetralogy of Fallot

Question 435

What congenital heart abnormalities are associated with Down syndrome?

Answer 435

Atrioventricular septal defect | VSD

Question 436

What congenital heart abnormalities are associated with Edward's and Patau's syndromes?

Answer 436

complex

Question 437

What congenital heart abnormalities are associated with Turner's syndrome?

Answer 437

Coarctation of aorta, aortic valve stenosis

Question 438

What congenital heart abnormalities are associated with chromosome 22q11.2 deletion?

Answer 438

Tetralogy of Fallot | Aortic arch abnorms, common arterial trunk

Question 439

What congenital heart abnormalities are associated with Noonan syndrome?

Answer 439

Hypertrophic cardiomyopathy ASD pulmonary valve stenosis

Question 440

What are the features of an innocent ejection murmur?

Answer 440

``` 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 ```

Question 441

What are some symptoms of heart failure?

Answer 441

Breathlessness (feeding or exertion especially) Sweating Poor feeding Recurrent chest infections

Question 442

What are the signs of heart failure?

Answer 442

``` Faltering growth Tachypnoea, tachycardia Heart murmur, gallop rhythm Cardiomegaly Hepatomegaly Cool peripheries ```

Question 443

Give some symptoms and examples of left to right shunting in cardiac disease?

Answer 443

Symptoms- breathless or asymptomatic | Ex: ASD, VSD, PDA

Question 444

Give some symptoms and examples of R to L shunting in cardio?

Answer 444

Symptoms: Blue Ex: Tetralogy of Fallot, TGA

Question 445

Give some examples of common mixing cardiac abnormalities and the symptoms

Answer 445

Symptoms: breathless AND blue Ex: AVSD, complex

Question 446

Give some examples of cardiac obstructive abnormalities that show well children

Answer 446

Aortic stenosis Pulmonary stenosis Adult-type coarctation of aorta

Question 447

Give some examples of cardiac obstructive abnormalities that cause neonates to be sick or in shock

Answer 447

Coarctation of aorta | Hypoplastic left heart syndrome

Question 448

What is important to check in cyanotic heart disease and how would you manage?

Answer 448

Is it a duct-dependent lesion?! If yes, give prostaglandins to keep OPEN If not, can give NSAIDs to CLOSE

Question 449

What happens to the atrioventricular vales in AVSD?

Answer 449

Left atrioventricular valve has 3 leaflets and tends to leak

Question 450

What are the physical signs of atrial septal defect?

Answer 450

Ejection systolic murmur at upper left sternal edge Split 2nd heart sound AVSD - apical pansystolic murmur

Question 451

What signs would you see on investigations that suggest atrial septal defect?

Answer 451

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

Question 452

How are atrial septal defects managed?

Answer 452

Treatment if causing RV dilation at 3-5yrs Secundum ASD - cardiac catheterisation with insertion of occlusion device Partial AVSD - surgical correction

Question 453

What counts as a small VSD?

Answer 453

Smaller than aortic valve in diameter (<3mm)

Question 454

What are the physical signs of a small VSD?

Answer 454

Asymptomatic Loud pansystolic murmur at lower left sternal edge Quiet pulmonary second sound

Question 455

What will investigations show for a small VSD?

Answer 455

CXR and ECG NORMAL | Echo - anatomy, doppler shows blood flow, no pulmonary hypertension

Question 456

How would you manage a small VSD?

Answer 456

Lesions close spontaneously, follow up to check no murmur and normal ECG Advise good dental health to prevent bacterial endocarditis

Question 457

What counts as a large VSD?

Answer 457

Same or larger than aortic valve diameter

Question 458

What are features of large VSDs?

Answer 458

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

Question 459

What would investigations show for a large VSD?

Answer 459

CXR - cardiomegaly, enlarged pulmonary arteries, increased pulmonary vascular markings, pulmonary oedema ECG - biventricular hypertrophy by 2mnths Echo

Question 460

How would you manage a large VSD?

Answer 460

Diuretic with captopril for heart failure Additional calorie input Surgery at 3-6 months to prevent Eisenmenger syndrome

Question 461

What is hydrops fetalis?

Answer 461

Abnormal accumulation of fluid in 2 or more fetal compartments - ascites, pleural effusion, pericardial effusion, skin oedema

Question 462

What occurs in persistent ductus arteriosus?

Answer 462

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

Question 463

What clinical features might you see in PDA?

Answer 463

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

Question 464

What might you see on investigations in PDA?

Answer 464

If asymptomatic, CXR and ECG normal If symptomatic - CXR and ECG same findings as large VSD Echo - patent ductus arteriosus

Question 465

What is the management of PDA if not duct-dependent?

Answer 465

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

Question 466

What are two examples of right to left shunt congenital cardiac abnormalities?

Answer 466

Tetralogy of Fallot Transposition of the Great Arteries Present with cyanosis, blue, low oxygen sats <94% in first few weeks of life

Question 467

What is the hyperoxia (nitrogen washout)test?

Answer 467

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

Question 468

How would you manage a positive hyperoxia test?

Answer 468

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

Question 469

What is the most common cause of cyanotic congenital heart disease? What are its core cardiac defects?

Answer 469

Tetralogy of Fallot 1. Large VSD 2. Overriding aorta 3. Subpulmonary stenosis (Routflow tract obstruct) 4. RVH

Question 470

What are the clinical features of Tetralogy of Fallot?

Answer 470

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

Question 471

What do investigations show in Tetralogy of Fallot?

Answer 471

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

Question 472

How is tetralogy of Fallot managed?

Answer 472

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

Question 473

How would you manage hypercyanotic spells in Tof F?

Answer 473

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

Question 474

Describe the cardiac defects in transposition of the great arteries

Answer 474

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

Question 475

What are clinical features of transposition of the great arteries?

Answer 475

Cyanosis - usually day 2 when DA closes Second heart sound is LOUD and single No murmur usually

Question 476

What do investigations show for transposition of the great arteries?

Answer 476

CXR - narrow upper mediastinum, "egg on side" cardiac shadow, increased pulmonary vascular markings ECG - normal Echo - shows abnormalities

Question 477

How would you manage transposition of the great arteries?

Answer 477

Allow mixing - prostaglandin infusion for PDA Balloon atrial septostomy Surgery - arterial switch (PA and aorta switched and coronary arteries transferred to aorta)

Question 478

What is Eisenmenger syndrome?

Answer 478

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

Question 479

What are the cardiac features of AVSD?

Answer 479

Complete atrioventricular septal defect in middle of heart with single 5 leaflet valve between atria and ventricles - leaky Large defect also means pulmonary HTN

Question 480

What are the presenting features of AVSD?

Answer 480

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

Question 481

How is AVSD managed?

Answer 481

Treat heart failure - diuretics and captopril | Surgical repair at 3-6 months

Question 482

What is the commonest complex congenital heart disease?

Answer 482

Triscuspid atresia - RV small and non-functional | Mixing of systemic venous and pulmonary return in left atrium

Question 483

What are the clinical features of tricuspid atresia?

Answer 483

Cyanosis in newborn if duct-dependent or well at birth, then becomes cyanosed or breathless

Question 484

How is tricuspid atresia managed?

Answer 484

``` 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 ```

Question 485

What clinical features may present in aortic stenosis?

Answer 485

Asmptomatic, chest pain on exertion, reduced exercise tolerance or syncope If critical in neonates and duct-dependent - severe HF and shock

Question 486

What are the physical signs of aortic stenosis?

Answer 486

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

Question 487

What would investigations show in aortic stenosis?

Answer 487

CXR - normal or LVH with dilated ascending aorta | ECG - LVH

Question 488

How would you manage aortic stenosis?

Answer 488

Regular clinical and echo assessments Symptomatic - balloon valvotomy, or balloon dilatation in older children Eventually aortic valve replacement

Question 489

What are the clinical features of pulmonary stenosis?

Answer 489

Mostly asymptomatic Small number neonates with critical pulmonary stenosis have duct-dependent pulmonary circulation, present in 1st few days with cyanosis

Question 490

What are the physical signs of pulmonary stenosis?

Answer 490

Ejection systolic murmur at upper left sternal edge, thrill may be present Ejection click upper left sternal edge Severe - prominent RV heave

Question 491

What do investigations show for pulmonary stenosis?

Answer 491

CXR - normal or post-stenotic dilation of PA | ECG - RVH (upright T wave in V1)

Question 492

How is pulmonary stenosis managed?

Answer 492

When pressure gradient across PA valve marked: | Trans-catheter balloon dilatation

Question 493

What causes coarctation of aorta?

Answer 493

Arterial duct tissue encircles aorta where duct inserts. When ductus arteriosus closes, aorta constricts causing LV outflow obstruction

Question 494

What are the clinical features of coarcation of aorta?

Answer 494

Acute circulatory collapse at 2 days of age when duct closes Sick baby, severe heart failure Absent femoral pulses Severe metabolic acidosis

Question 495

What would investigations show in coarctation of aorta?

Answer 495

CXR - cardiomegaly from HF and shock | ECG - normal

Question 496

How is coarctation of aorta managed?

Answer 496

ABC Prostaglandin Surgical repair

Question 497

What occurs in adult-type coarctation of aorta?

Answer 497

``` Not duct-dependent Asymptomatic Systemic hypertension R arm Ejection systolic murmur upper sternal edge Radio-femoral delay ```

Question 498

What would investigations show in adult-type coarctation of aorta?

Answer 498

CXR - Rib notching - intercostal arteries to bypass obstruction, visible notch in descending aorta ECG - LVH

Question 499

How is adult-type coarctation managed?

Answer 499

Severity assessed by echo Stent inserted at cardiac catheter. Surgical repair may be needed later

Question 500

What is interruption of aortic arch?

Answer 500

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

Question 501

What is hypoplastic left heart syndrome?

Answer 501

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)

Question 502

What is sinus arrhythmia?

Answer 502

Normal in children | Heart rate increases on inspiration and slows on expiration (up to 30beats/min)

Question 503

What is the commonest arrhythmia in childhood? What are its features?

Answer 503

Supraventricular tachycardia 250-300 beats/min presents: heart failure in neonate or young infant, hydrops fetalis or intrauterine death

Question 504

What investigations would you do for SVT and what would you see?

Answer 504

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)

Question 505

How would you manage SVT?

Answer 505

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)

Question 506

What is congenital complete heart block?

Answer 506

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

Question 507

What are features of long QT syndrome?

Answer 507

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

Question 508

What is rheumatic fever?

Answer 508

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

Question 509

What is chronic rheumatic heart disease?

Answer 509

Long-term damage from rheumatic fever = scarring and fibrosis of heart valve tissue MITRAL STENOSIS Other valves can occur too

Question 510

How would you manage rheumatic fever?

Answer 510

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

Question 511

How would you manage rheumatic fever after resolution of acute episode?

Answer 511

Monthly injections benzathine penicillin as prophylaxis until 21 or lifelong Oral erythromycin if allergic to penicillin

Question 512

When should infective endocarditis be suspected?

Answer 512

Any person with sustained fever, malaise, raised ESR, unexplained anaemia or haematuria

Question 513

What are clinical signs of infective endocarditis?

Answer 513

``` 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) ```

Question 514

How do you diagnose infective endocarditis?

Answer 514

Multiple blood cultures before Abx Echo (vegetations) CRP and ESR raised Commonest infective agent is alpha haemolytic strep (S. viridans)

Question 515

How do you treat infective endocarditis?

Answer 515

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

Question 516

What prophylaxis is there for infective endocarditis?

Answer 516

Good dental hygiene | Antibiotic prophylaxis no longer encouraged

Question 517

How is myocarditis managed?

Answer 517

ACE-inhibitors, carvedilol (Beta antagonist) (steroids or Ig?) Usually improves spontaneously but may require heart transplant

Question 518

How might pulmonary hypertension be managed?

Answer 518

``` Treating underlying cardiac cause Inhaled NO, IV MgSO4, oral Sildenafil IV prostacyclin, inhaled iloprost oral Bosentan (endothelin antagonist) Anticoagulation - heparin, warfarin, aspirin ```

Question 519

What is wheeze?

Answer 519

High-pitched whistling sign on expiration

Question 520

How is meningococcal septicaemia transmitted?

Answer 520

Droplet spread or secretions from carrers

Question 521

What are some cerebral complications following bacterial meningitis?

Answer 521

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

Question 522

What is stridor?

Answer 522

High-pitched wheezing sound caused by disruption of air flow through narrowed UPPER airways Can be inspiratory, expiratory or biphasic

Question 523

What are the differential diagnoses for someone presenting with stridor?

Answer 523

``` Epiglottitis - EXCLUDE first Croup Bacterial tracheitis Inhaled foreign body Anaphylaxis Laryngomalacia Diphtheria Hemangioma Laryngeal web ```

Question 524

What is another name for croup and what are its features?

Answer 524

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

Question 525

What must you NOT do if you suspect upper airway obstruction? ie stridor

Answer 525

Throat examination - can lead to laryngospasm if child becomes distressed Only do if full resuscitation equipment available

Question 526

What is the commonest cause of croup and give some other causes

Answer 526

Parainfluenza | Others - human metapneumovirus, RSV, influenza...

Question 527

How would you monitor severity of croup?

Answer 527

Chest retraction O2 sats Child can usually be managed at home

Question 528

How is croup treated?

Answer 528

Oral dexamethasone, oral prednisolone Nebulised budesonide If severe, give one dose before hospital, one in hospital and one 12 hrs later

Question 529

How would you manage if croup continues to get worse after initial treatment?

Answer 529

ABCDE assessment Nebulised adrenaline and call anaesthetist (in case needs intubating when it wears off in 2hrs) Potential tracheostomy if bad

Question 530

What organism causes bacterial tracheitis? What are the features of this condition?

Answer 530

Staph aureus High fever, rapidly progressive obstruction/stridor, copious thick airway secretions Treat - IV antibiotics and intubation/ventilation

Question 531

What are common features of epiglottitis?

Answer 531

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

Question 532

How does epiglottitis differ from croup?

Answer 532

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

Question 533

What must you not do in epiglottitis when examining the child?

Answer 533

Get them to lie down | Or perform a throat examination

Question 534

How is epiglottitis managed?

Answer 534

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

Question 535

What are the features of whooping cough?

Answer 535

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

Question 536

What are the complications of whooping cough?

Answer 536

pneumonia convulsions bronchiectasis mortality

Question 537

How is whooping cough identified?

Answer 537

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

Question 538

What are the features of bronchiolitis?

Answer 538

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

Question 539

What increases the risk of getting bronchiolitis?

Answer 539

``` Broncohopulmonary dysplasia, chronic lung disease CF congenital heart disease Lots of contacts/siblings Immunodeficiency Exposure to tobacco smoking Not breastfed Crowded living conditions ```

Question 540

What investigation would you do for bronchiolitis?

Answer 540

Nasal swab PCR Or nasopharyngeal aspirate to quickly detect ifi RSV or not Pulse oximetry - assess severity

Question 541

How is bronchiolitis managed?

Answer 541

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

Question 542

What is the prognosis for bronchiolitis?

Answer 542

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

Question 543

What is the prevention for bronchiolitis?

Answer 543

High-risk preterm invants may be offered monthly injection - IM Palivizumab e.g. BPD, Congenital heart disease, immunodeficient

Question 544

How might CF affect management of bronchiolitis?

Answer 544

Lower threshold for hospital admission Possible secondary pneumonia - CXR, blood gases Require chest physio and inhaled saline

Question 545

What are the commonest causes of pneumonia depending on age?

Answer 545

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

Question 546

What clinical features will pneumonia present with?

Answer 546

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

Question 547

What investigations might you do to diagnose pneumonia?

Answer 547

CXR - pneumonia but not sure cause NPA in younger children FBC, acute phase reactants USS if pleural effusion to differentiate if empyema

Question 548

How is pneumonia managed?

Answer 548

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

Question 549

What is follow-up like for pneumonia?

Answer 549

None needed if simple | If effusion or lobar collapse - repeat CXR in 4-6wks

Question 550

Give features of viral-induced or transient early wheeze

Answer 550

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

Question 551

How would you manage viral wheeze?

Answer 551

Bronchodilators - salbutamol or ipratropium bromide May use oral steroids in acute attack Montelukast regularly for those with predisposition

Question 552

What are features suggestive of asthma?

Answer 552

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

Question 553

What might examination show in an asthmatic child?

Answer 553

Hyper-inflation of chest Generalised polyphonic expiratory wheeze Prolonged expiratory phase

Question 554

What investigations may be done for asthma?

Answer 554

PEFR - over 5s - diurnal variation, dayto day | Response to treatment is diagnostic test - salbutamol reversibility 10-15% increase PEFR response

Question 555

What might be given first for chronic management of asthma?

Answer 555

child - Salbutamol or terbutaline inhaler with inhaled corticosteroid infant or young child - ipratropium bromide inhaler (or leukotriene antagonist if not tolerate inhaler)

Question 556

After SABA + ICS what might be added for management of chronic asthma?

Answer 556

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

Question 557

What might be given for persistent asthma despite SABA+ICS+ add-ons?

Answer 557

``` Over 5 - increase ICS dose to max and refer Under 5 - refer THEN Oral prednisolone daily Omalizumab - anti-IgE injection ```

Question 558

What criteria is there for admitting a child with acute asthma to hospital?

Answer 558

Not responded adequately to high dose bronchodilator therapy - breathless, tachypnoeic Exhausted Marked reduction in PEFR <92% O2 sats

Question 559

How would you manage a moderate exacerbation of asthma?

Answer 559

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

Question 560

How would you manage severe exacerbation of asthma?

Answer 560

``` 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 ```

Question 561

How would you manage life-threatening exacerbation of asthma?

Answer 561

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

Question 562

What are some CSR signs of tuberculosis?

Answer 562

Marked hilar or paratracheal lymphadenopathy | Circular opacity

Question 563

What is bronchiectasis and give some features

Answer 563

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

Question 564

What is the inheritance of CF and how is it picked up/diagnosed?

Answer 564

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

Question 565

What is the pathophysiology of CF?

Answer 565

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

Question 566

How might CF present in neonates or infants?

Answer 566

Meconium ileus - not passed for more than 48hrs, vomiting bile Prolonged jaundice Malabsorption, steatorrhoea

Question 567

What organs does CF affect?

Answer 567

Lungs, Liver, Pancreas, Intestines, GU system

Question 568

How might CF present in young children?

Answer 568

``` Failure to thrive Recurrent chest infections/wheeze/cough/bronchiectasis Nasal polyps Rectal prolapse Sinusitis Poor appetite ```

Question 569

How might CF present in teenagers?

Answer 569

``` Diabetes Liver failure Allergic bronchopulmonary aspergillosis Pneumothorax, haemoptysis Distal intestinal obstruction Psychological effects ADULT - infertility (vas deferens blockage) ```

Question 570

How is CF managed?

Answer 570

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

Question 571

What are features of obstructive sleep apnoea?

Answer 571

``` 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 ```

Question 572

What managements may be given for OSA?

Answer 572

Adenotonsillectomy - if due to adenotonsillar hypertrophy | CPAP or BIPAP at night

Question 573

What is the difference between "posseting" and "regurgitation" and "vomiting" and "rumination"?

Answer 573

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

Question 574

What are the metabolic and mechanical consequences of vomiting?

Answer 574

Metabolic: Potassium deficiency, alkalosis, hyponatraemia | Mechanical - Mallory-Weiss tear, tears in gastric arteries causing shock

Question 575

What is the management of vomiting?

Answer 575

IV fluids, analgesia, anti-emetics | Treat underlying cause

Question 576

What red flags are associated with vomiting?

Answer 576

Meningism, raised ICP Abdominal pain (appendicitis, UTI) Costovertebral tenderness Testicular pain!!

Question 577

What causes GORD in children?

Answer 577

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

Question 578

How is GORD diagnosed?

Answer 578

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

Question 579

What are clinical features of GORD?

Answer 579

Faltering growth Oesophagitis/or stricture (dysphagia, haemoptysis) Apnoea SIDS aspiration, wheezing, hoarseness, seizure-like events

Question 580

How is GORD managed?

Answer 580

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

Question 581

What causes pyloric stenosis?

Answer 581

Hypertrophy of pyloric muscle causing gastric outlet obstruction

Question 582

What are clinical features of pyloric stenosis?

Answer 582

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

Question 583

How is pyloric stenosis diagnosed?

Answer 583

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

Question 584

How is pyloric stenosis managed?

Answer 584

``` IV fluids (saline, dextrose, potassium supplement) Pyloromyotomy - fed within 6h, discharged within 2 days ```

Question 585

What are features of infant "colic"?

Answer 585

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

Question 586

What should you consider in a child presenting with acute abdominal pain?

Answer 586

``` Acute appendicitis UTI or acute pyelonephritis Testicular torsion! Strangulated inguinal hernia Referred hip pain DKA Lower lobe pneumonia Primary peritonitis ```

Question 587

What are the features of acute appendicitis?

Answer 587

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

Question 588

Why is diagnosis of acute appendicits not always clear?

Answer 588

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

Question 589

How would you manage acute appendicitis?

Answer 589

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

Question 590

Give the pathophysiology of intussusception

Answer 590

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

Question 591

What are presenting features of intussusception?

Answer 591

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?)

Question 592

How would you manage intussusception?

Answer 592

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

Question 593

What is Meckel diverticulum?

Answer 593

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

Question 594

What is the most concerning condition with bright green bilious vomiting? What is the cause of this?

Answer 594

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

Question 595

Give the features of malrotation

Answer 595

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