3a Paediatrics Flashcards
How would you summarise febrile seizures in 5 points?
(Tonic clonic) seizures that occur due to febrile episodes in children aged 6m to 6 years
Simple means a generalised tonic clonic seizure lasting < 15 minutes, occurring once per febrile episode and no more than once per 24 hours. All other seizure types (including focal) are complex febrile seizures.
No treatment is able to prevent febrile seizures
Associated with FHx and vaccinations (but do NOT stop vaccinations just because of febrile seizures)
If seizures last > 5 minutes then phone 999 and give BDZ (buccal midazolam or PR diazepam)
What is West syndrome?
Triad of: hypsarrhythmia + spasms + developmental regression/plateau
Cluster of spasms occurring around time of sleep/waking where the infant throws their hands up and draws knees into chest.
Distressed between spasms
Give vigabatrin and prednisolone
Associated with Sturge-Weber syndrome, tuberous sclerosis and other neurological disorders
Can developer Lennox-Gastraut syndrome later in childhood
What are the main forms of cerebral palsy and common causes?
Spastic
- Hemiplegic: typically from perinatal strokes
- Diplegic (no LD!): periventricular leukomalacia common in preterm birth
- Quadriplegic
Dyskinetic/athetoid/extrapyramidal
- Commonly caused by HIE/hypoxia during birth
Ataxic
Causes
- Antenatal: maternal infection, haemorrhage, cerebral ischaemia, maldevelopment in utero
- Perinatal: preterm, HIE, kernicterus,
- Post natal: NAI, meningitis, encephalitis, encephalopathy
What are the complications of cerebral palsy?
Neurogenic bladder
Constipation
GORD
Feeding problems
Learning difficulty
Seizures/epilepsy
How would spastic cerebral palsy commonly present?
UMN lesion
- Spastic
- Hyperreflexic
- UL flexors and LL extensors predominate
Hemiplegic: like a stroke
- Spastic/circumduction/hemiplegic gait
Diplegic: hands and legs involved but LEGS are more affected (scissoring gait with toe walking)
- Adduction of hip
- Hands are held flexed at wrists and elbows in prone
Quadriplegic: hands and legs severely affected so generally wheelchair bound
How would athetoid/dyskinetic cerebral palsy commonly present? What is their muscle tone like?
Writhing movements (athetosis)
Dystonia
Chorea
Tone is increased when awake but decreased when sleeping
What is the gross motor functional classification scale?
1 - no impairment
2 - slight impairment but can mobilise without aids
3 - impairment requiring help to walk with aids
4 - wheelchair bound but can self-mobilise
5 - completely dependent on others to mobilise
What are the features of an ASD?
Partial AVSD has apical pansystolic murmur
ASD murmur (septum secundum):
- Fixed split S2
- Mid systolic crescendo-decrescendo murmur in upper left sternal border
Presentation:
- Can be asymptomatic or have dyspnoea/fatigue/failure to thrive/symptoms of HF
- Stroke > PE (emboli can bypass lungs)
- Small aortic knuckle on CXR
What can you hear in adult-type coarctation? What are the radiological findings?
Ejection systolic murmur (high pressure needed to pump) in infraclavicular and scapular areas
Rib notching and ‘3’ sign are visible on CXR
What are the features of a VSD?
Murmur:
- Small VSD = loud pansystolic murmur lower left sternal edge with soft P2
- Large VSD = soft pansystolic murmur lower left sternal edge with loud P2
Presentation:
- Can be asymptomatic or present with signs of heart failure
Association’s:
- Trisomy 21
- Turner syndrome
What makes a murmur ‘“innocent”?
Systolic
Small
Can vary with position
Child is well
No added sounds and no other symptoms
Does not radiate
Venous hum
- Continuous blowing below clavicles
- The sound of venous return to heart
Still’s murmur
- Low pitch
- Lower left sternal edge
How does patent ductus arteriosus present?
Murmur
- Located left upper sternal edge and can radiate to the back
- Machinery murmur (continuous) that is particularly loud during S2
- Normal S1
Examination
- Bounding pulse
- Collapsing pulse
- Wide pulse pressure
Presentation
- Failure to thrive
- Those of heart failure (SOB, difficulty feeding, poor weight gain)
How does infantile-type coarctation present?
Infantile = coarctation is before ductus arteriosus + is duct dependent and will narrow further when duct closes
Collapse and shock within first few days of life due to closure of ductus arteriosus and obstruction of left outflow tract
- Absent femoral pulses
- Tachypnoea
- Grey floppy baby
- Poor feeding
Metabolic acidosis on blood gases
Manage by A-E resuscitation + early prostaglandin E to keep duct patent followed by corrective surgery
What signs are associated with coarctation of the aorta?
Absent femoral pulses, radio-femoral delay
Hypertension
Ejection systolic murmur
Turner syndrome
What are the complications of acyanotic heart disease?
Infective endocarditis
Eisenmenger syndrome
Heart failure, pulmonary hypertension and RVH
What are some causes of enuresis in children?
Most dry by day at 2 and dry by night at 3-4
Overactive bladder
Stress incontinence
Diabetes
Constipation
Psychosocial stress
Deep sleep and weak bladder signals
Overconsumption of fluids before bed
Recurrent UTI
LD and cerebral palsy
Normal variation in development
What is the triad associated with hyposphadias?
Chordee
Ventral urethral opening
Hooded prepuce
How would you manage nephrotic syndrome?
Steroids (prednisolone) or immunosuppressants (cyclophosphamide, ciclosporin)
Diuretics
Anti-hypertensives
Statins
DOAC
What is associated with minimal change disease?
Idiopathic
Hodgkin’s lymphoma, leukaemia
Hepatitis, HIV, TB
Atopy
NSAIDs, lithium, bisphosphonates
What are the complications of nephrotic syndrome?
CKD/AKI
Pleural effusion/ascites/oedema
Hypovolaemic shock
VTE
Infection
Hyperlipidaemia and CVD
What is focal segmental glomerulosclerosis?
A cause of nephrotic syndrome
Has podocyte effacement and segmental sclerosis/hyalinosis of the glomerulus
What is membranous nephropathy?
Spike and dome appearance (C3 x IgG)
Diffuse (vs FSG) thickening of glomerular BM and capillary loops
Cause of nephrotic syndrome
How would nephrotic syndrome present?
Oedema (periorbital, ascites, peripheral)
Frothy urine without haematuria (>3.5 g/day)
Recurrent infections
Hyperlipidaemia
Hypoalbuminuria
Recurrent VTE
Fatigue, dyspnoea due to effusions from low albumin
How would nephritic syndrome present?
Haematuria (Coca-Cola coloured urine)
Oedema/ascites (mild)
Mild proteinuria < 2 g/day
Hypertension
Renal dysfunction (vs normal in nephrotic) = pruritus, N&V, oligouria
RBC casts in urine
What are the common causes of nephritic syndrome?
Post-streptococcal glomerulonephritis
IgA nephropathy (Berger’s disease)
Haemolytic uraemic syndrome
Henoch-Schonlein purpura
Thin basement membrane disease
Anti-GBM (Goodpasture’s) disease
Alport syndrome
What is IgA nephropathy?
Type 3 hypersensitivity where immune complexes are deposited in the kidneys
What is post-streptococcal GN?
Type 3 hypersensitivity reaction occurring post-group A streptococcus infection (not immediate)
Bacterial antigen is trapped in glomerulus and antibodies attack glomeruli causing glomerulonephritis
Test for ASO titres or anti-DNaseB or throat swab
What is haemolytic uraemic syndrome?
Triad of: AKI + microangiopathic haemolytic anaemia + thrombocytopenia
Occurs after Shigella or Shiga-toxin producing E.coli infection (hence preceeded by bloody diarrhoea + abdominal pain)
- Can have bruises due to low platelets
Special investigations: stool MCS, NORMAL coagulation screen (PT, APTT)
Management: INFORM PHE + supportive therapy for nephritic syndrome if needed (diuretics, antihypertensives, dialysis, maintain fluid balance)
What is Henoch-Schonlein purpura?
ANCA - small vessel vasculitis causing IgA deposition in kidneys, skin, GI tract and joints
Causes arthritis (knees and ankles), fever, headache, anorexia, abdominal pain and extensor purpura alongside features of nephritic syndrome
Normal platelet count!
Preceeded by Rubella or URTI
What is anti-GBM disease?
Type 2 hypersensitivity against basement membrane antigens (T4 collagen)
Also has respiratory symptoms (haemoptysis, chest pain, etc.)
What is thin basement membrane disease?
Autosomal dominant inherited cause of nephritic syndrome
What is Alport syndrome?
Basketweave appearance on biopsy (sclerosis and fibrosis)
X-linked (recessive) disorder affecting T4 collagen in the kidneys, eyes (lenticonus + myopia) and ears (sensorineural hearing loss)
Maternal haematuria
How would you investigate nephritic syndrome?
Urine dipstick + MCS (RBC casts on microscopy)
P:Cr
FBC + film
Albumin
U&E
ESR/CRP
Anti-DNAse B or ASO titres or throat swab
C3/4
ANA
ANCA
Renal biopsy
What is the steroid ladder for eczema?
Hydrocortisone
Clobetasone
Betamethasone
Clobetasol
What are the complications of eczema?
Bleeding and pain
Secondary bacterial infection (S.aureus = give flucloxacillin)
Keratinisation (hyperkeratotic papules)
Decreased QoL due to cosmetic appearance and persistent itching
What is eczema?
Defective skin barrier means allergens/irritants can enter skin (predisposes to irritation/inflammation) causing immune response
Associated with atopy (hayfever, asthma, food allergies)
Presentation:
- Dry, red, itchy and swollen
- BME can have discoid/follicular appearance and also affect the extensor surfaces
Where?
- Infants: head, face, neck, trunk, extensor surfaces
- Older children: flexor surfaces
Managed by emollients +/- steroids
- Steroid creams before PO
- Can consider antihistamines (cetrizine, fexofenadine, loratadine)
How would you manage allergic rhinitis?
T1 hypersensitivity “allergies”
Prophylaxis:
- Avoid triggers
- Oral antihistamines (cetrizine, loratadine, fexofenadine)
Acute:
- Nasal antihistamines
- Nasal corticosteroids
- Oral corticosteroids
How much adrenaline wold you give children with anaphylaxis?
1 in 1000 (1 mg/mL) IM adrenaline
- 2nd dose after 5 minutes if no response
> 12 years: 500 micrograms (0.5mL)
6-12 years: 300 micrograms (0.3 mL)
6m to 6 years: 150 micrograms (0.15 mL)
< 6m: 100-150 micrograms (0.10-0.15 mL)
+ IV crystalloids
What are some features of anaphylaxis?
Angio-oedema especially of the face
Stridor and wheeze
Fatigue or reduced consciousness
Cough
Hoarse voice
Itching and urticaria
Shock: low BP, raised HR and RR
Cyanosis and increased WOB
What are the features of rheumatic fever?
JONES FEAR
Joints - flickering polyarthritis affecting knees and ankles (and others in quick succession)
Organs - pancarditis eventually leading to valve disease
- Tachy/bradycardia
- Friction rub
- HF
Nodules - subcutaneous nodules on extensor surfaces of joints
Erythema marginatum
Sydenham’s chorea (worse on 1 side and ceases with sleep)
Fever
Arthralgia
ECG changes (long PR, no carditis)
Raised ESR and CRP
What is the most common valve disease secondary to rheumatic fever?
Mitral stenosis
How would you treat impetigo?
No school until lesions healed or 48 hours of antibiotics
Non-bullous impetigo:
1 = hydrogen peroxide cream
2 = fusidic acid cream
3 = PO flucloxacillin (clarithromycin/erythromycin if allergic)
Bullous impetigo
1 = PO flucloxacillin
What is impetigo?
Superficial infection of the skin commonly caused by staphylococcus aureus or streptococcus pyogenes
Leaves a ‘golden crust’ on skin and is commonly found around the mouth and nose
Bullous impetigo = large vesicles present
- S.aureus is always the cause
- Can have systemic symptoms such as fever, malaise, lymphadenopathy
- Affects the face, trunk, limbs and flexures
- Can have pain and itching
Non-bullous impetigo = vesicles rapidly burst causing formation of characteristic golden crust
Swab for MCS only if recurrent/widespread infection
Complications: post-streptococcus GN, SSSS, scarlet fever, cellulitis
What are the risk factors for developing impetigo?
Overcrowding
Poor hygiene
Younger age
Defective skin barrier (eczema, scabies, chickenpox, cuts/grazes)
Which organisms cause impetigo?
Staphylococcus aureus
Streptococcus pyogenes
How many days of school is missed due to these infections?
- Measles
- Coxackie A16 or enterovirus 71
- HHV-6
- Rubella
- Scarlet fever
- Parvovirus B19
Measles = 4 days after symptoms resolve
Coxackie/enterovirus = none
HHV-6 = none
Rubella = 5 days after rash appears
Scarlet fever = 24 hours of antibiotics
Parvovirus B19 = none
Can you summarise measles?
Prodrome of coryza, conjunctivitis, cough and Koplik spots leading up to high fevers with a non-pruritic generalised maculopapular rash that starts in the face but spreads to the rest of the body
Otitis media is the most common complication (but can also get pneumonia, diarrhoea, hearing/vision loss, death, subacute sclerosis panencephalitis)
Investigations
- Saliva PCR
- Serology for IgM/IgG from day 3
Inform PHE and avoid school until 4 days from when symptoms resolve
Can you summarise Parvovirus B19?
Coryzal prodrome leading to bilateral erythematous rash on cheeks
- Followed by erythematous rash on trunk and limbs
- +/- itching
VERY bad for pregnant women so they (and anyone immunocompromised) are screened for IgM/G + rubella + (+/- FBC as can get aplastic anaemia if immunocompromised)
Not infectious from appearance of rash so no need to avoid school or inform PHE
Other complications include: encephalitis, meningitis, myocarditis, hepatitis, nephritis
What is roseola infantum?
HHV-6/7
Rash appearing after the resolution of high fevers and is not infectious once appearing (no need to avoid school or inform PHE)
The rash is diffuse, non-pruritic and affects the whole body
Associated with febrile convulsions
What is scarlet fever?
Scarlet fever is a complication of streptococcus pyogenes infection (caused by toxins)
Presents with
- Prodrome of pharyngitis/tonsillitis
- Strawberry tongue
- SANDPAPER rash (rough and maculopapular)
- Flushed cheeks/chin with perioral sparing
- Fever, fatigue, lymphadenopathy, malaise
Inform PHE and avoid school until 24 hours of antibiotics (phenoxymethylpenicillin)
What rash do you see with scarlet fever?
Rough/raised maculopapular SANDPAPER-like rash
Can you summarise mumps (paramyxovirus)?
Prodrome of fever, flu-like symptoms followed by bilateral parotitis
Investigations:
- Saliva IgM or serum IgM/G
Inform PHE and avoid school for 5 days from onset of parotitis
Complications include pancreatitis, pericarditis, hepatitis, encephalitis, meningitis, nephritis, thyroiditis, epididymo-orchitis and infertility
What is HMFD?
Coxackie A16 or enterovirus 71
Prodrome of fevers, malaise, coryza
Irritable clingy and miserable child as lesions are painful
Vesicular lesions/ulcers in mouth
Maculopapular lesions on the hands and feet (commonly dorsum, not palms/soles)
No need to avoid school
What is rubella?
Milder fever and rash compared to measles
- No conjunctivitis or Koplik spots
- Rash starts in face and spreads to rest of body (erythematous, lacy, ill-defined rash)
- Non-pruritic
Can have lymphadenopathy, sore throat and arthralgia
IgM and IgG serology
What sign do you see in SSSS?
Nikolsky’s sign - gentle pressure causes bullae to peel
How would you describe staphylococcus scalded skin syndrome?
Complication of S.aureus infection due to toxin production (protease enzymes .-.)
Starts as generalised erythema > thinning of skin + bullae formation > bullae rupture and ‘scalded’ blister-like appearance that is painful
Fevers + Nikolsky’s sign
IV flucloxacillin (clarithromycin/erythromycin if allergic) 7-10 days
Skin swab and nasal swab
Skin heals well
SSSS vs TSS?
TSS has flu-like symptoms, early multiple organ failure and signs of shock/disorientation
TSS can also be caused by streptococcus pyogenes
TSS:
- A to E
- (Clindamycin/linezolid) + (vancomycin/cephalosporin)
- Blood cultures
- FBC (low platelets, raised WCC)
- Raised LFT and U&Es (low calcium!)
What are the most common causes and complications of congenital hypothyroidism?
Causes:
- Iodine deficiency (worldwide)
- Agenesis or maldescended thyroid (UK)
- Dyshormonogenesis (normally due to consanguinity)
N.B., dyshormonogenesis can be distinguished from agenesis/maldescent as there can be goitre
Complications: CRETINISM (impaired growth and IQ with characteristic appearance)
When would you suspect congenital hypothyroidism?
Prolonged jaundice
Umbilical hernia
Hypotonia
Large posterior fontanelle
Large protruding tongue and coarse skin
Lethargy, poor feeding and constipation
Bradycardia
Slow relaxing reflexes
Floppy, lazy yellow baby with a protruding tongue and umbilicus
What are the associations and complications of trisomy 21?
Associations:
- AVSD
- VSD
- Tetralogy of Fallot
- Patent ductus arteriosus
- Hypothyroidism
- Duodenal atresia (double-bubble on x-ray)
- Hirschsprung’s disease
Complications
- Leukaemia (ALL)
- Early-onset Alzheimer’s disease
- Recurrent otitis media with effusion
What are the characteristic features of trisomy 21?
HYPOTONIA + umbilical hernia
Hands and feet
- Single transverse palmar crease
- Short fingers that are curved
- Short stature
- Gap between hallux and second toe (hallux valrus)
Face:
- Low-set ears
- Prominent epicanthic folds and upward slanting eyes
- Flattened occiput (brachycephaly)
- Short neck
- Flat nasal bridge
- Brushfield spots on iris
- Protruding tongue
- Learning difficulty
When would you suspect trisomy 21 on antenatal testing?
Increased nuchal thickness on dating scan (11-13+6)
Combined test: until 14+1
- PAPP-A (low)
- Beta-hCG (high)
Quadruple test: from 14+2
- Inhibin (high)
- Oestradiol (low)
- AFP (low)
- Beta-hCG (high)
What are the causes of trisomy 21?
Non-dysjunction during oogenesis
Robertsonian translocation with C14
Mosaic
What congenital conditions are associated with leukaemia?
Trisomy 21
Noonan syndrome for juvenile myelomonocytic leukaemia
How would you investigate leukaemia?
FBC + blood film (blast cells, AML also has Auer rods)
Immunophenotyping
Bone marrow and lymph node biopsy
LDH (raised; allopurinol for tumour lysis syndrome)
What is the timeframe for referral/investigations in a child with suspected cancer?
48 hours
What are the features of acute leukaemia?
Pancytopenia:
- Anaemia (pallor, fatigue, dyspnoea, chest pain)
- Thrombocytopenia (bruising and bleeding/petechiae)
- Neutropenia (recurrent infections)
General/systemic:
- Fever, fatigue, weight loss, loss of appetite/poor feeding and night sweats
- Generalised bone pain
- Hepatosplenomegaly
- Lymphadenopathy
AML: <2 years
- Gum hypertrophy
ALL: 2-5 years and better prognosis
- Headache
- Cranial nerve involvement
What is neuroblastoma?
Neuroblastoma is a tumour arising from embryonal neural crest cells (commonly adrenal medulla and SNS)
It commonly affects children < 5 years (average 2y years)
Presentation
- Abdominal mass that crosses midline
- Abdominal distension/pain
- Can cause constipation and urinary retention/incontinence
- Limp and bone pain
- Hepatosplenomegaly
- Lymphadenopathy
- Fever, weight loss, night sweats, poor feeding, irritability/lethargy
Investigations
- USS abdomen (calcification)
- Urinary homovanillinic acid and vanillylmandelic acid (raised)
- Biopsy + histology
- CT or MRI for staging
- Bone scan
Management
- Active monitoring if < 1 year as can resolve spontaneously
- Surgical resection
- Chemoradiotherapy
Which gene is associated with neuroblastoma?
M-YCN
What is raised in tumour lysis syndrome?
Chemotherapy makes you feel like PUP
Potassium
Uric acid
Phosphate
Give allopurinol
What are some (paraneoplastic) complications of neuroblastoma?
Subcutaneous nodules
Orbital ecchymosis
Periorbital swelling/proptosis
Secretory diarrhoea
Horner’s syndrome
SVC syndrome
Spinal cord compression
What syndrome is associated with neuroblastoma?
Opsthoclonus-myoclonus-ataxia
Can you summarise retinoblastoma in 5 points?
Do NOT biopsy the eye 👁️
Retinoblastoma is the most common intraocular tumour in children and can be inherited via AD inheritance (especially if bilateral) due to loss of function of retinoblastoma tumour suppressor gene on C13
Presents with absent red reflex, strabismus/squint, visual deterioration +/- large eye
Investigations include investigation under anaesthetic + MRI NOT biopsy
Management can be chemoradiotherapy, photocoagulation, and surgical excision/enucleation if necessary
How would you describe Wilm’s tumour and its management?
Associated with Turner syndrome, WAGR (aniridia, GU malformation and reduced IQ) and Beckwidth-Wiedemann syndrome
Metastasises to lungs
Wilm’s tumour is a nephroblastoma, and is the most common cause of abdominal masses in children
Presentation (child is normally well with a big tummy)
- Abdominal mass and distension that does not cross the midline +/- pain in flank
- Haematuria
- Hypertension
- Fever, weight loss and night sweats are rare
- Irritability, lethargy, poor feeding are also rare
Investigations
- Abdominal USS
- Biopsy + histology (small round blue cells)
- CT/MRI to stage
Management
- Chemotherapy followed by surgery
- +/- radiotherapy
Good prognosis with 80% cure
What are the main categories of brain tumours found in children?
What is a craniopharyngioma and how does it present?
How would brain tumours present in children?
Can you summarise rhabdomyosarcoma in 5 sentences?
Rhabdomyosarcoma is the most common soft-tissue sarcoma, arising from rhabdomyoblasts, in children and it most commonly affects the head/neck and GU/bladder
Presentation
- Expanding lump
- Head and neck = proptosis, nasal obstruction, bloody nasal discharge
- GU/bladder = bloody PV discharge, haematuria, dysuria
Management
- Chemoradiotherapy
- Surgical excision is difficult as borders are not clear but is still performed
Metastasises to lung, liver and bone
Can occur in cardiac muscle of tuberous sclerosis patients
What is Ewing’s sarcoma and what will you see on x-ray and biopsy?
Ewing’s sarcoma tends to affect the diaphysis of long bones and pelvis
Associated with t(11;22) and M>F
Occurs in younger children (vs osteosarcoma)
X-ray: onion-skin appearance + Codman’s triangle
Biopsy: small round non-osteoid producing blue cells
Presentation:
- Swelling/mass
- Bone pain (severe, unremitting, non-weight bearing, occurring at night)
- Fever, weight loss and night sweats
- Decreased appetite
Management:
- Chemoradiotherapy (vincristine + ifosfamide + doxorubicin + etoposide)
- Surgery
Metastasis to lungs
What is osteosarcoma and what do you see on biopsy and x-ray?
Most common bone sarcoma in children which affects the metaphysis of long bones before closure of epiphysis
Femur > tibia > humerus
X-ray: sunburst appearance + Codman’s triangle
Systemic symptoms are less common
Normally swelling, limp, bone pain
Investigations:
- ALP and LDH (raised)
- X-ray
- Bone biopsy
- CT/MRI/bone scan for staging
What are the risk factors for developing brain tumours in childhood?
Neurofibromatosis type 1
Neurofibromatosis type 2
HNPCC
Where are these tumours located?
- Astrocytoma
- Ependymoma
- Craniopharyngioma
- Pontine glioma
- Medulloblastoma
What is an astrocytoma?
What is an ependymoma?
Can you summarise Langerhan’s cell histiocytosis?
Not a malignancy - abnormal proliferation of Langerhans APC/dendritic cells which are normally only present in the skin
Can present with fatigue, weight loss, lymphadenopathy, hepatosplenomegaly and widespread seborrhoeic rash
Causes diabetes insipidus if hypothalamus is infiltrated
Lytic bone lesions can cause pain/swelling/fracture
Treatment is with chemotherapy and prognosis is good
What is Hodgkin’s lymphoma? How would you investigate and treat it?
Hodgkin’s lymphoma has Reed-Sternberg cells
Painless asymmetrical lymphadenopathy that becomes painful after alcohol
Investigations: CXR, lymph node biopsy + histology, CT/MRI/bone scan to stage
- FBC anaemia, low lymphocytes
- LDH (raised)
- ESR and CRP
- HIV
- Albumin (low)
B-symptoms: fever, weight loss, night sweats
ABVD chemotherapy + radiotherapy
- Adriamycin
- Bleomycin
- Vincristine
- Doxorubicin
Commoner in older adolescents
Types:
- Nodular sclerosis
- Mixed cellular ITU
- Lymphocyte predominant
- Lymphocyte depleted
Risks:
- EBV infection (especially lymphocyte depleted)
- Immunosuppression
Complications including those from treatment:
- GBS
- AML
- Breast cancer
What is non-Hodgkin’s lymphoma?
Lymphoma without Reed-Sternberg cells
- Can affect both T and B lymphocytes
More common in childhood (vs Hodgkin’s which is common in adolescence)
- High grade > low grade
- High-grade precursor T/B lymphoblastic and small noncleaved lymphomas are the most common in childhood
Risks: HIV, EBV infection, immunosuppression
Investigations are the same as Hodgkin’s
Presentation:
- Painless lymphadenopathy
- B symptoms and systemic symptoms are more common in high-grade lymphomas
- Hepatosplenomegaly
- Mediastinal mass + SVC syndrome
Types:
- High grade: Burkitt’s, diffuse large B-cell, mediastinal large B cell, primary CNS lymphoma
- Low grade: follicular lymphoma, MALT lymphoma
What are some complications of Hodgkin’s lymphoma?
Guillain-Barré syndrome
Nephrotic syndrome and minimal change disease
What is Kallmann syndrome and what are some common features?
What is the earliest ‘normal age’ when puberty begin in females? What is the stepwise progression?
8 years (range 8-14y)
Breast budding - thelarche
Pubic hair growth - adrenarche
Start of menstruation - menarche
Average age of menstruation is around 12
What is the earliest ‘normal age’ when puberty begin in males? What is the stepwise progression?
9 years (range 9-15y)
Males grow after testicular enlargement while females grow before breast budding
Testicular enlargement
Pubic hair growth
Scrotal darkening
Tanner 1 - pre-pubertal
Tanner 2 - testicular enlargement > 4mL, hair at base of penis
Tanner 3 - testicular and penile enlargement, hair spreads to mons pubis
Tanner 4 - darkening of scrotum, development of glans penis and continued growth, hair adapts adult-like pattern but does not spread to thighs
Tanner 5 - adult features
What are some causes of central precocious puberty?
Idiopathic (F>M)
Obesity
Craniopharyngioma
Meningitis/head-injury/radiotherapy
Hydrocephalus
Neurofibromatosis
Primary hypothyroidism
Haemorrhage
What are some causes of delayed puberty?
Endocrine/genetic:
- Kallmann syndrome
- Turner’s syndrome
- Kleinfelter’s syndrome
- Androgen insensitivity syndrome
- Constitutional delay (FHx)
- Craniopharyngioma
Nutrition:
- Malabsorption (IBD, coeliac)
- Excessive exercise
- Inadequate intake
Excessive stress:
- NAI
- Social stressors (school, family)
Iatrogenic:
- Chemoradiotherapy
What are some causes of hypogonadotrophic hypogonadism?
GH deficiency
Hypothyroidism
Hyperprolactinaemia
Cystic fibrosis
Kallmann syndrome
Radiotherapy
Surgery
Excessive exercise/malnutrition/inadequate intake
Craniopharyngioma
Constitutional delay
What are some causes of hypergonadotrophic hypogonadism?
Turner syndrome
Kleinfelter syndrome
Androgen insensitivity syndrome
Testicular torsion/ovarian torsion
Radiotherapy in childhood
Congenital absence of internal genitalia (AIS)
What are the first line investigations for delayed puberty? When would you consider investigating?
FSH and LH
U&E
FBC
Ferritin
Anti-TTG or anti-EMA
Females at 13 and males at 14 if no signs of puberty, or if puberty has started but not progressed for at least 2 years
What further investigations would you perform for delayed puberty?
TFT
Early morning FSH and LH (?is this first line?)
GH or IGF-1
Serum prolactin
What are some causes of gonadotropin independent precocious puberty?
Congenital adrenal hyperplasia
McCune-Albright syndrome
Adrenal or liver tumours
Gonadal tumours
Where is the cause of precocious puberty in males?
- Bilateral testicular enlargement
- Unilateral testicular enlargement
- Small testicles
Bilateral = central GnRH release
Unilateral = gonadal tumour
Small testes = adrenal origin
How would you investigate precocious puberty?
Oestrogen/testosterone levels
Bone age
Adrenal androgens
MRI head
Pelvic USS
Intra-abdominal imaging
What is McCune-Albright syndrome?
Random GNAS mutation during development
Precocious puberty (due to excessive oestrogen produced by an ovarian cyst)
Cafe au lait spots
Fibrous dysplasia of bones
How would you ‘stop’ puberty?
GnRH analogues (goserelin, leuprorelin, histrelin)
What is androgen insensitivity syndrome?
X-linked recessive condition affecting XY karyotype where cells are unresponsive to androgens - foetus develops with a female phenotype
Presents in adolescence with tall female and delayed puberty
There is breast development but absent axillary and pubic hair
Rudimentary testes in abdomen
Investigations
- Pelvic USS = absent female internal reproductive organs
- Genetic karyotyping
- FSH and LH (raised)
- Oesrogen (raised > normal male level)
- Testosterone (raised > normal female level)
Management
- Oestrogen replacement
- Removal of testes to prevent testicular cancer
How is androgen insensitivity syndrome inherited?
X-linked recessive
What is congenital adrenal hyperplasia?
Autosomal recessive condition where there is a deficiency in 21 hydroxylase leading to excess androgen production but decreased mineralocorticoid and glucocorticoid production
Low cortisol stimulates ACTH release leading to adrenal hyperplasia and increased androgens (can have skin pigmentation)
Salt-wasting
- Presents early in life (if not at birth due to virilization of genitalia) with shock
- Low sodium, high potassium, low glucose
- Metabolic acidosis
Non-salt wasting
- Can present in later childhood with precocious puberty due to excess androgens
- Females can be tall and have facial hair
- Males are tall but have small testicles
- Skin hyperpigmentation
Investigations
- GS: corticotrophin stimulation
- Androgens (raised)
- Cortisol (low)
- U&Es
Management (salt-wasting)
- Hydrocortisone + fludrocortisone replacement
Management in female adults
- COCP or flutamide
How would you manage congenital adrenal hyperplasia of a female foetus in-utero?
Give maternal dexamethasone/steroids
When would you suspect T18 or T13 on antenatal testing?
Increased nuchal thickness
Combined test:
- PAPP-A (low)
- Beta-hCG (low)
What is Fragile X syndrome?
X-linked DOMINANT CGG trinucleotide expansion >200 repeats (fragile X mental retardation 1 gene) causing learning difficulty (IQ < 70; delayed speech and language)
Associated with ASD, ADHD and epilepsy
Presents with elongated face, large jaw/nose/ears/hands/feet and testicles
Hyper mobile joints + pes planus
- Females are not normally severely affected but can have premature ovarian failure
Cardiovascular complications include mitral valve prolapse
How is fragile X syndrome inherited?
X-linked dominant
What valve disease is associated with Fragile X syndrome?
Mitral valve prolapse
How will someone with William’s syndrome present?
William’s syndrome is a chromosomal abnormality affecting chromosome 7 (random deletion > AD inheritance)
Patients are generally very social (LD but better than average social skills)
Facial features:
- Starburst eyes
- Wide smile (large mouth and widely spaced small teeth)
- Wide forehead, small jaw
- Long philtrum
- Flattened nasal bridge
- Widely spaced eyes
- Periorbital fullness + full cheeks/lips
- Anteverted nares
Short stature
What are some associations with William’s syndrome?
Hypercalcaemia
Supravalvular aortic stenosis
Hypertension
ADHD
What are some associations with Turner’s syndrome?
Coarctation of the aorta (dissection, aneurysm)
Bicuspid aortic valve + ejection systolic murmur (AS due to bicuspid valve)
Hypergonadotrophic hypogonadism
Wilm’s tumour
Hypothyroidism
Horseshoe kidney
Autoimmune diseases (coeliac, T1DM, alopecia, IBD)
What is Turner syndrome?
45 XO - missing one X chromosome
Features:
- Short stature
- Short 4th metacarpal
- Primary amenorrhoea
- Webbed neck, widely-spaced nipples
- Low posterior hairline and low set ears
- Pectus excavatum
- Multiple pigmented naevi
- Cubitus valrus
Investigations
- FSH and LH (raised)
- Chromosomal analysis
Management:
- Growth hormone to help with growth
- During puberty start oestrogen + progesterone
What is the aetiology of Turner’s syndrome?
X chromosome deletion
Deletion of short arm of one X chromosome
Mosaicism
What illnesses are associated with Turner’s syndrome?
Hypertension
Coarctation
Hypothyroidism and other autoimmune diseases
Recurrent otitis media
Wilm’s tumour
What cancer is associated with Turner’s syndrome?
Nephroblastoma (Wilm’s tumour)
What chromosomal conditions are associated with hypothyroidism?
Turner’s syndrome
Trisomy 21
What is Kleinfelter’s syndrome? Can you summarise in 5 points?
Kleinfelter’s is a form of hypergonadotrophic hypogonadism caused by chromosomal abnormality (XXY) due to non-dysjunction during maternal oogenesis
Males tend to be tall, have female pattern pubic hair no beard/chest hair, wide hips, gynaecomastia, small testes and decreased libido
Can have slight decrease in IQ compared to average population
Management includes androgen/testosterone replacement to help with secondary sexual characteristics, mastectomy and IVF for fertility
Complications include infertility (azoospermia), psychosocial issues, low BMD and increased risk of breast cancer compared to the male population
Can also be affected by other ‘female’ diseases such as VTE, autoimmune conditions and anxiety/depression
What is Angelman syndrome?
Genetic condition affecting chromosome 15 UBE3A
- Either 2 copies of C15 from father or abnormal C15 from mother (essentially you need 1 healthy C15 from each parent to be ‘normal’)
Behaviour:
- Fascinated by water
- Very happy demeanour
- Inappropriate laughter
- Walks with hands in the air + hand flapping
- ADHD
- Abnormal sleep pattern
Physical features:
- Light hair + blue eyes + fair skin
- Wide mouth and widely spaced teeth
- Microcephaly
Associated with developmental delay (especially speech), learning difficulty, epilepsy and ataxia
What is Prader-Willi syndrome?
Genetic condition where there is an absence or abnormality in chromome 15 from the father
- Either two C15 from mother or C15 from father is defective (e.g., microdeletion)
Presentation:
- Genitalia
= Cryptorchidism at birth and hypoplasia of genitalia
- MSK
= MARKED hypotonia as an infant and poor feeding
= Short stature - Facial features
= Upward slanting narrow spaced almond eyes
= Thin lips and mouth
= Downward slanting mouth - Behavioural
= Learning difficulty
= ASD like behaviours
= Insatiable appetite and food seeking behaviour
Management:
- Physiotherapy + regular exercise + low calorie diet + ensure the child does not have access to food
- Growth hormone to promote growth and improve muscle development
Why do Angelman and Prader-Willi syndrome occur?
Due to IMPRINTING
What are some complications of Prader-Willi syndrome?
Sleep apnoea
High BMI, DM, HTN, cardiovascular disease
Hypogonadism = infertility and osteoporosis
Growth hormone deficiency
What is Noonan syndrome?
Autosomal dominant inherited chromosomal abnormality (PTPN11 on chromosome 12)
“Turner syndrome” that also affects males
Widely spaced nipples
Webbed neck
Pectus excavatum
Low posterior hairline and low set ears
Downward sloping widely spaced eyes + ptosis
Short stature
Small jaw but wide forehead (inverted triangle)
Management:
- Give GH
- Manage co-morbidities
What conditions are associated with Noonan’s syndrome?
Pulmonary stenosis
Atrial septal defect
Hypertrophic cardiomyopathy
Neuroblastoma
Leukaemia
Cystic hygroma on USS antenatally
Which collagen is affected in osteogenesis imperfecta?
Type 1 collagen
AD inheritance is most common
What are some complications of osteogenesis imperfecta?
Aortic root widening
Kyphoscoliosis (reduced FVC)
MV prolapse
Pain
Aortic incompetence
What are some key features of osteogenesis imperfecta?
Recurrent fragility fractures
Blue sclera and hyper-mobility
Deafness and dental imperfection
Short stature
Bowed legs (femur)
Can you summarise Ricket’s in 5 points?
What are some differentials of Osgood-Schlatter’s disease?
Sever’s disease = similar pathophysiology but occurring at insertion of Achilles tendon onto the calcaneous
Osteochondritis desiccans = subchondral bone separates from surrounding area due to decreased blood supply
Chondromalacia patellae = softening of patella cartilage causing anterior knee pain when going up and down stairs (F>M)
Patella subluxation
Patella tendinitis
What is Osgood-Schlatter’s disease?
Apophysitis of tibial tuberosity // repetitive strain injury
Affects the insertion of patella tendon at the tibial tuberosity
Patient will present with anterior knee pain, hard lump on tibial tuberosity and reduced active extension of knee (but normal passive ROM)
What is Perthes’ disease?
Pathophysiology and epidemiology
- Avascular necrosis of the femoral head followed by revascularisation and reossification
- M>F
- Aged 5-10y
Presentation
- Progressive onset limp with limb shortening
- PAINLESS limp
- Hip and groin pain
- (Reduced internal rotation and abduction) = ABSENT for exam purposes?
- No fever
Associated with ADHD + short stature
Investigations
- XR: widened joint space, joint sclerosis
- Late XR: Gage’s sign, flattening of femoral head, fragmentation
- Bloods (normal)
- Technetium bone scan (normal)
Management
- BA < 6 years = conservative management (rest, crutches, bracing) + analgesia
- BA > 6 years = corrective surgery
Complications
- Early osteoarthritis
What are some complications of an ASD?
Eisenmenger syndrome
Stroke
Atrial flutter or fibrillation
Pulmonary HTN and RHF
What are some causes of patent ductus arteriosus?
N.B., patent ductus is normal until 28 days after birth/due date
Trisomy 21
CHARGE syndrome
Wiedemann-Steiner syndrome
Prematurity
Rubella
What are the common causes of cyanotic congenital heart disease?
Tetralogy of Fallot
Hypoplastic left heart syndrome
Transposition of the great arteries
Ebstein’s anomaly
Tricuspid atresia/stenosis/displacement
What is the Tetralogy of Fallot?
4 features
- VSD
- Overriding aorta
- Pulmonary stenosis and ejection systolic murmur +/- thrill head at upper left sternal border
- Right ventricular hypertrophy
Other features
- Heart failure (failure to thrive, recurrent chest infections, SOB, poor feeding, lethargy)
- Clubbing
- Cyanosis
Tet spells and management
- Periods of cyanosis during exertion (e.g., crying or feeding) which causes systemic vasodilation hence increasing the R>L shunt
- Resolves when relaxed
- Child may squat to increase peripheral vascular resistance/after load (so blood is more likely to flow to the heart rather than systemic circulation from right side of heart reducing the R>L shunt)
- Other management: BBlockers relax RV, IV fluids, supplementary O2, morphine to reduce breathlessness, phenylephrine to increase vascular resistance
Investigations
- CXR: boot shaped heart
- Echocardiogram
How would you treat Tet spells?
Beta-blockers (relax RV)
Phenylephrine (increase systemic vascular resistance)
IV fluids (increase preload)
Morphine
O2
What are the risk factors for developing Fallot’s tetralogy?
Pre-existing diabetes (not gestational DM)
Rubella
Alcohol in pregnancy
What is transposition of the great arteries?
Pulmonary artery and aorta are connected to the left and right ventricles respectively so oxygenated blood keeps returning to the heart whilst deoxygenated blood is pumped to systemic circulation
These circulations do not mix so the infant presents extremely unwell (cyanosed and shocked) within hours-days of birth once PDA begins to close
- Survival depends on PDA, ASD, VSD so A-E resuscitation and prostaglandin E to maintain ductus arteriosus until corrective surgery
Associated with maternal diabetes (not gestational diabetes)
Single second heart sound
Investigations
- CXR = egg on string appearance with increased pulmonary vascular markings
- Echocardiogram
What is Ebstein’s anomaly?
Pathophysiology:
- Congenital heart defect where RA is larger than RV as tricuspid valve is set lower down
- Tricuspid regurgitation is present so there is backflow into RA causing increased pressure within RA
- Most with Ebstein’s anomaly have co-existing ASD or patent foramen ovale which does not close due to the high pressure within right atrium causing a R>L shunt and cyanosis
Presentation:
- Heart failure (SOB, failure to thrive, poor feeding, lethargy, hepatomegaly)
- Tricuspid regurgitation (pansystolic murmur louder on inspiration)
- Gallop S3 and S4
- Cyanosis
What is Ebstein’s anomaly associated with?
Wolf-Parkinson-White syndrome
Maternal lithium use
Patent foramen ovale/atrial septal defect
Where does Wilm’s tumour metastasise to?
Lung lung lung lung lung
The LUNGS
What is the 6 in 1 vaccine and when do babies get it?
8, 12 and 16 weeks old
Diphtheria, tetanus and pertussis
Polio
HiB
Hepatitis B
What vaccines do you receive at 13/14 years school Y9
Meningitis ACWY
Diphtheria, tetanus and POLIO
Check MMR status
What vaccines do you receive at 12-13 years of age?
2 doses of HPV
What vaccines do you receive at 3 years and 4 months?
MMR dose 2
Diphtheria, tetanus, pertussis and polio
What vaccines do you receive at 1 year?
MMR dose 1 of 2
Pneumococcal dose 2 of 2
HiB and meningitis C
Meningitis B dose 3 of 3
What vaccines do you receive at 16 weeks?
6 in 1 (diphtheria, tetanus, pertussis, polio, HiB and hepatitis B)
Meningitis B dose 2 of 3
What vaccines do you receive at 12 weeks?
6 in 1 (diphtheria, tetanus, pertussis, polio, HiB, hepatitis B)
Rotavirus dose 2 of 2
Pneumococcal dose 1 of 2
What vaccines do you receive at 8 weeks?
6 in 1 (diphtheria, tetanus, pertussis, polio, HiB, hepatitis B)
Meningitis B dose 1 of 3
Rotavirus dose 1 of 2
How many times are children vaccinated against meningitis B?
3 times at 8 weeks, 16 weeks and 1 year
How many MMR doses are given?
2 doses
At 1 year and at 3 years 4 months
How many rotavirus doses are given?
2, at 8 weeks and 12 weeks
How many pneumococcal doses are given?
2
Given at 12 weeks and 1year
How many doses of meningitis C are given?
2
Once as part of HiB + meningitis C at 1 year
Once as part of meningitis ACWY at 14 years
How many doses of HiB are given?
4
3 in the 6 in 1 at 8, 12 and 16 weeks
1 in HiB + meningitis C at 1 year
How many doses of tetanus and diphtheria are given?
4
3 during the 6 in 1
1 in the diphtheria, tetanus and polio booster at 13/14 years
How many doses of pertussis are given?
3 in the 6 in 1 vaccine
How many doses of polio are given?
4
3 in the 6 in 1
1 in the diphtheria + tetanus + polio booster at 13/14 years
Which bones are commonly affected in osteosarcoma?
Femur, tibia and humerus
What antibiotics are given in early-onset (<72hr old) neonatal sepsis?
IV benzylpenicillin + gentamicin
What antibiotics are given in late-onset (>72hr old) neonatal sepsis if already in hospital?
IV flucloxacillin + gentamicin
+ metronidazole if necrotising enterocolitis
If coming from home, use cefotaxime + amoxicillin
Commonly caused by staphylococcus aureus
How would you manage prematurity and vaccines?
Give according to chronological age
If born < 28 weeks give first set in hospital due to risk of apnoea
What can you tell me about CMPA?
Allergy (IgE and non-IgE to milk proteins) to casein and whey
Investigations
- Eliminate milk from diet and reintroduction
- Can use skin test if suspecting IgE
Management
- Extensively hydrolysed formulas
- Amino acid formulas
What are the IgE and non-IgE symptoms of CMPA?
IgE (acute onset)
- Anapylaxis (ABC problem + shock)
- Urticaria
- Angioedema
- Pruritus
- Dyspnoea, wheeze, stridor
- Rhinorrhoea
Non-IgE
- GI (nausea, vomiting, diarrhoea, abdominal pain, GORD)
- Poor weight gain
- Bloody and/or mucus-coated stools
- Pallor and tiredness
- Atopic eczema, pruritus and erythema
How would you manage Crohn’s in children?
1st line: exclusive enteral nutrition
2nd line: PO corticosteroids (prednisolone/budesonide)
Others
- Aminosalicylates (sulfasalazine, mesalazine)
- Immunomodulators (AZT, MTX, mercaptopurine)
- Biologics (infliximab, adalimumab)
- Surgery and parenteral nutrition
How would you mange UC in children?
Mild-moderate
- Aminosalicylates for induction and remission
- E.g., sulfasalazine, mesalazine
- Therefore: 5ASA (topical/PO) +/- prednisolone (PO)
Moderate-severe
- Induction: IV corticosteroids +/- surgery or ciclosporin/infliximab
- Remission: PO mercaptopurine or AZT
How would IBD present and what are some extra-intestinal features?
Presentation
- Abdominal pain
- Weight loss, fever, fatigue, anorexia and pallor
- Poor growth and delayed puberty
- Tenesmus
- Bloody, mucous-coated stools that can float
- Change in bowel habit
Extra-intestinal
- Ankylosing spondylitis/arthritis
- Pyoderma gangrenosum
- Iritis
- Erythema nodosum
- Sclerosing cholangitis
- Aphthous ulcers/anaemia
- Clubbing/cirrhosis
Investigations
- FBC (anaemia, raised WCC and platelets)
- LFTs
- Faecal calprotectin
- ANCA
- CRP/ESR
- Stool microscopy and culture
- Colonscopy/endoscopy + biopsy
How does GORD present in infants and children?
How would you manage diarrhoea and vomiting in a child?
Do NOT give anti-diarrhoeals (e.g., loperamide or mebeverine) or anti-emetics!
Most-often the cause is viral so keeping hydrated is important
- If not dehydrated, continue with regular fluids or milk (BUT NO fizzy drinks or fruit juices) and offer ORS if at risk of dehydration
- If dehydrated = low osmolarity oral-rehydration salts +/- supplementation with normal fluids
- Avoid solid foods until fully rehydrated!
Investigations
- No routine bloods unless IV fluids = sodium, potassium, urea, creatinine and glucose
- Consider stool microbiology if no improvement by day 7 or recent travel
- Stool microscopy if septicaemia, blood or immunocompromised
- Blood culture if giving antibiotics
What is constipation and how do you manage this in children? Would you perform any investigations?
Constipation
- < 3 spontaneous bowel movements a week
- Impaction = accumulation of faecal matter that is unlikely to spontaneously clear (overflow + palpable mass + constipation)
- N.B., breastfed babies have fewer bowel movements and this is normal
Presentation
- Abdominal distension and pain
- Urinary incontinence
- Overflow incontinence
- Retention posturing (standing on tip toes with arched back)
- Pain and STRAINING when opening bowels, bleeding (anal fissure from hard stool)
- Hard, dry stool (Bristol 1)
- Lack of appetite that improves after opening bowels
Investigations
- Depends on cause
- Never do a PR
Management same medications for disimpaction just in different doses
- 1st line = dietary advice (fluids, fibre) and encourage regular toileting
- 2nd line = osmotic laxative (macrogol/polyethylene glycol, lactulose)
- 3rd line = stimulant laxative (senna, bisacodyl, sodium picosulfate)
- 4th line = removal under anaesthetic
What are some causes of constipation? Can you give some differentials by age?
All ages
- Dehydration and/or lack of fibre
- Strangulated hernia causing bowel obstruction
- Spina bifida
- Cerebral palsy
- Hypothyroidism
- Coeliac (rarely)
- Opioids
- Fissure causing pain
Infants
- CF (thick meconium plug)
- Hirschsprung’s
Children
- Behavioural
- IBD
Adolescents
- Behavioural
- IBD
- Pregnancy
- Laxative overuse
What is the difference between Crohn’s and UC?
Crohn’s
- ANCA -
- Skipped lesions anywhere from mouth to anus (rectal sparing)
- Transmural inflammation (fissures, abscess, strictures, fistulas)
- Granuloma formation
- Bloody diarrhoea less common
- Colonoscopy: cobblestone appearance
Ulcerative colitis
- ANCA +
- Colon only and continuous inflammation
- Only mucosa and submucosa inflammation
- No rectal sparing
- Associated with primary sclerosing cholangitis and AS (HLA-B27)
- Smoking is protective
- Colonscopy: mucosal ulcer, goblet cell depletion, inflammatory infiltrates and crypt abscesses
What is the difference between paediatric vs adult IBD?
Paediatric
- M > F
- Crohn’s > UC
- UC is pancolitis
- Crohn’s = ileo-colonic or colonic
Adult
- M = F
- Crohn’s < UC
- UC is left sided
- Crohn’s = terminal ileal without colon
What is the fluid replacement regimen for maintenance fluids?
0.9% NaCl + 5% glucose
- 1st 10 kg = 100 ml/kg
- 2nd 10 kg = 50 ml/kg
- Subsequently = 20 ml/kg
Then divide by 24 to determine rate per hour
What fluid regimen do you give based on dehydration status?
Clinically well = maintenance fluids
Dehydrated = maintenance + deficits
Shocked = maintenance + deficits + bolus
How to calculate fluid deficits?
For moderate (5%) or severe (10%) dehydrated and given over 24-48 hours
Formula = deficit (%) x 10 x weight (kg)
Deduct bolus from deficit!
What fluids do you use for bolus in shock? How much do you give per kg?
0.9% NaCl without glucose or dextrose is used in resuscitation for shock
Give 10 ml/kg!
Can you summarise G6PD deficiency for me?
Pathophysiology (ME, SEA, Afro-Caribbean descent = more common)
- X-linked recessive
- G6PD is involved in covering/reducing NADP+ into NADPH
- Deficiency = low NADPH and glutathione stores so cells are more susceptible to oxidative stress (e.g., during infection)
- Intravascular haemolysis
Causative agents
- Fava (broad) beans
- Infection
- Medications (aspirin, sulfonamides, sulfasalazine, anti-malarials, nitrofurantoin, trimethoprim, sulfonylureas)
Presentation
- Jaundice + those of anaemia
- Gallstones
- Splenomegaly
- Types
=Asymptomatic
= Sporadic (e.g., post-infection or medication)
= Chronic
Investigations
- Blood film (bite cells, Heinz bodies, reticulocytes, irregularly contracted cells)
- G6PD enzyme assay
- Serum bilirubin and urinary urobilinogen(raised unconjugated bilirubin)
- LDH (raised)
- FBC (low Hb, normal MCV)
Management
- Avoid causative agents
- Blood transfusion (rarely required)
- Renal support
What is hereditary spherocytosis?
Pathophysiology (European descent = more common)
- AD inherited membranopathy
- Abnormal spectrin protein so cell membrane is permeable to sodium = increased Na+/K+ ATPase activity and more Na+ out
- Causes cell to become spherical to reduce SA:V ratio
- Round cells get trapped in spleen = extra-vascular haemolytic anaemia
Presentation
- Gallstones
- Leg ulcers
- Splenomegaly
- Fatigue, pallor, those of anaemia
- Childhood onset jaundice
Investigations
- Serum bilirubin (raised unconjugated bilirubin)
- LDH (raised)
- FBC (low Hb, normal MCV)
- Blood film (spherocytes, reticulocytes)
- Direct antibody test (negative)
Management
- Folic acid supplements
- Severe = splenectomy
What is beta- thalassaemia?
Pathophysiology
- AR inheritance
- Reduced rate of 1 or more of the globin chains
- HbF = 2 alpha, 2 gamma
- HbA (normal adults) = 2 alpha, 2 beta
- HbA2 (abnormal) = 2 alpha, 2 delta
Beta thalassaemia
- Affects beta globin 2 genes per cell
- Chromosome 11
Presentation
- Trait is asymptomatic and test shows mild anaemia + raised HbA2
- Progressive severe anaemia (fatigue, pallor, dyspnoea)
- Skeletal deformity: frontal bossing, maxillary overgrowth
- Jaundice due to haemolytic anaemia (+ gallstones)
- Failure to thrive/delayed growth and puberty
- Splenomegaly
Investigations
- Film (microcytic hypochromic cells, raised reticulocytes, target cells)
- Skull XR (hair on end appearance)
- FBC (low Hb, low MCV)
- Iron studies (normal)
- Hb electrophoresis
- LDH, bilirubin (raised)
Management
- Regular blood transfusions + iron chelation (deferoxamine)
- Bone marrow transplant
- Splenectomy
Can you summarise Von Willebrand’s disease for me?
Pathophysiology
- Commonest inherited bleeding disorder that varies in severity
- VWF roles: mediate adherence of platelets at sites of endothelial damage to form a platelet plug // binds and transports factor 7, protecting it from degradation
Presentation
- Easy bruising
- Mucosal bleeding (epistaxis, bleeding gums)
- Menorrhagia
- Increased bleeding post surgery or trauma
Investigations
- APTT (prolonged)
- PT (normal)
- VWF antigen (low)
- Ristocetin factor (abnormal)
- Factor 8 levels (normal)
Management
- Tranexamic acid
- Desmopressin
- WVF concentrates
What are some good prognostic factors for ALL?
2-10y
Female
Caucasian
WCC < 50
No CNS disease
What can you tell me about haemophilia?
Pathophysiology
- X-linked recessive bleeding disorder due to deficiency in factors 8 (A) or 9 (B)
Presentation
- Asymptomatic
- Haematoma
- Haemarthroses
- Mucocutaneous bleeding
Investigations
- Bleeding time (normal)
- Plasma factor 8/9 (low)
- FBC (normal platelets)
- PT (normal)
- APTT (prolonged)
- WVF (normal)
Management
- Tranexamic acid
- Factor 8/9 replacement (recombinant or concentrate)
- Desmopressin (preferred in MILD haemophilia A only, not used in B)
Severity
- Mild (5-40% normal) = bleeding after major trauma (like a healthy person)
- Moderate (1-5% normal) = bleeding after minor trauma
- Severe (<1% normal) = spontaneous bleeding into joints/muscles
What is Fanconi anaemia?
Pathophysiology
- Most common inherited aplastic anaemia
- AR or X-linked
- FANC gene mutation causing cellular arrest in G2 phase so no cellular repair of DNA cross-links = haematopoetic stem cell loss
Presentation
- Pancytopenia
- Hypogenitalia, short stature, conductive deafness
- Small eyes and head
- Imperforate anus
- VACTERL-H association
Investigations
- GS: chromosomal breakage (DEB assay) of peripheral lymphocytes + genetic sequencing
- FBC only changes around 8y (low Hb, raised MCV, low WCC, low platelets)
- Bone marrow biopsy (hypocellular)
Management
- Transfusions
- Bone marrow transplant
- Others: granulocyte colony stimulating factor/granulocyte macrophage stimulating factor
Complications
- Myelgenous leukaemia
- MDS
- Solid tumours
- Pancytopenia
What are some causes of microcytic anaemia?
Thalassaemia
Anaemia of chronic disease
Iron and copper deficiency
Lead poisoning
Sideroblastic anaemia
What are some causes of normocytic anaemia?
CKD
Early IDA
Early anaemia of chronic disease
Aplastic anaemia
Malignancy (bone marrow infiltration; if colonic bleeding think IDA)
Haemorrhage
Haemolytic (sickle cell, hereditary spherocytosis, G6PD, pyruvate kinase deficiency)
Hypersplenism (increased breakdown)
What are some causes of macrocytic anaemia?
Megaloblastic
- B12 deficiency
- Folate deficiency
- Fanconi anaemia
- Diamond-Blackfan anaemia
Normoblastic
- Hypothyroidism
- Drugs (MTX, AZT)
- Liver disease
- Alcohol misuse
What is immune thrombocytopenic purpura?
Pathophysiology
- Antibodies form against platelets causing phagocytosis by spleen macrophages = thrombocytopenia
Presentation
- Healthy child without any concerning features apart from bruising or petechiae/purpura
- Can follow viral infection or vaccination or be ‘random’
Investigations
- FBC (low platelets, normal Hb, normal WCC)
- Bone marrow examination and platelet autoantibodies
Management
- Nothing, only treat if < 10 x 10^9
- Steroids, IVIg, TPO-RA-
- Emergency = platelet transfusion
What are some complications of sickle cell disease?
Splenic sequestration crisis
Acute chest crisis and pulmonary HTN
Stroke/VTE
Gallstones
Priapism
Aplastic anaemia
- Especially on exposure to parvovirus B19
Septic arthritis, osteomyelitis, chronic ankle ulcers
Avascular necrosis
CKD
Wha can you tell me about sickle cell disease? How does it present and how do you manage children with this condition?
Pathophysiology
- Autosomal recessive substitution of valine (GAG) for glutamic acid (GTG) on B chain C11!
- Causes formation of abnormal HbS (instead of HbA) that polymerises + sickles when exposed to low oxygen environments (deoxygenated HbS)
- Sickle-shaped RBCs get trapped in microvasculature resulting in ischaemia (can also affect circulation to bone, lungs and can block the spleen)
- There is also increased breakdown of abnormal RBCs (shortened lifespan)
Presentation (6 months of age if not detected on newborn blood spot)
- Dactylitis
- Anaemia (pallor, dyspnoea, fatigue)
- Poor weight gain and failure to thrive/delayed puberty
- Gallstones (due to RBC breakdown products)
- Jaundice
- Splenic sequestration crisis = hypotension + anaemia + splenomegaly + pain
- Stroke
- Acute chest syndrome (fever, respiratory symptoms and infiltrates seen on XR) + pulmonary HTN
- Hepatosplenomegaly
- Retinopathy/tubulointerstitial nephritis
Investigations
- Blood film (normocytic, sickle-cells visible, Howell Jolly bodies)
- FBC (low Hb, normal MCV)
- Bilirubin (raised unconjugated bilirubin)
- LDH (raised)
- Haptoglobin (low)
- Haemoglobin electrophoresis
Management
- Keep warm, well hydrated and up to date with vaccines (prevents sickle cell crises)
- Analgesia (PCM or NSAID)
- Hydroxycarbamide to stimulate HbF production
- Phenoxymethylpenicillin prophylaxis
- Splenectomy, bone marrow transplant, blood transfusions
- Acute chest syndrome = ventilation + blood transfusions + antibiotics/antivirals + incentive spirometry
- Splenic sequestration crisis = blood transfusion + fluid resuscitation // recurrent = splenectomy
- Aplastic anaemia = supportive with blood transfusions
Can you summarise iron deficiency anaemia for me?
Aetiology
- Malnutrition (too much cow’s milk, CMPA, just not eating enough)
- Increased utilisation
- Chronic blood loss
What other element is IDA associated with?
- ZINC deficiency
Presentation
- Systolic flow murmur
- Atrophic glossitis and angular stomatitis
- Spoon-shaped nails
- Fatigue, pallor, dizziness, palpitations, chest pain, dyspnoea, exercise intolerance, tachycardia, splenomegaly
- PICA!
- HEART failure
Blood film
- Microcytic, hypochromic RBC
- Low-normal reticulocytes
Bloods
- FBC (low Hb, low MCV)
- Iron studies (low ferritin, low serum iron, increased total iron binding capacity)
- Zinc protoporphyrin (raised)
Management (until normal Hb then for an additional 3-6m to replenish stores)
- Oral iron (ferrous sulphate) — take with juice
== Constipation, GI disturbance, dark stools
- IV iron
How does anaemia present?
Fatigue, pallor, dizziness, palpitations, chest pain, dyspnoea, exercise intolerance, tachycardia, splenomegaly, headaches, loss of appetite
What is B12 deficiency anaemia?
Causes (body has 4y store!)
- Plant-based diet
- Pernicious anaemia (attacks parietal cells = lack of intrinsic factor)
- Malabsorption (e.g., coeliac, IBD, bowel resection - ileocaecal as absorbed by terminal ileum)
Presentation (including those of anaemia)
- Peripheral neuropathy
- Depression
- Dementia
- Angular stomatitis and atrophic glossitis
- Ataxia due to DCML involvement
Blood film
- Macrocytic megaloblastic anaemia
- Hypersegmented polymorph neutrophils
Bloods
- FBC (low Hb, raised MCV)
- Serum B12 (low)
Management (if also folate deficient, correct B12 deficiency first)
- Hydroxocobalamin PO or IM (IM if malabsorption or pernicious anaemia)
Complications
- Subacute degeneration of the spinal cord (DCML, ankle jerk absent, Babinski +)
- Dementia
- Depression
- Peripheral neuropathy
What is folate deficiency anaemia?
Basic physiology
- 4m stores and absorbed in duodenum and jejunum
Presentation
- Atrophic glossitis and angular stomatitis
- No CNS involvement
Blood film
- Hypersegmented polymorph neutrophils
- Macrocytic megaloblastic anaemia
Bloods
- FBC (low Hb, raised MCV)
- Serum folate (low)
Management
- Folate supplement + B12 supplement
- Give B12 alongside as folate with low B12 = worsened subacute degeneration of the spinal cord
What element, that is not iron, is associated with IDA?
ZINC
What is haemolytic disease of the newborn?
Pathophysiology
- Rh - mother has previously been sensitised to Rh + cells and has produced antibodies
- Antibodies cross the placenta and cause haemolysis of foetal haemoglobin
Presentation
- Severe anaemia
- Hepatosplenomegaly
- Foetal hydrops (abnormal accumulation of fluid in at least 2 compartments)
Management
- Anti-D immunisation
- Intrauterine transfusion of affected foetus
What is alpha-thalassaemia?
Alpha thalassaemia
- Affects alpha globin 4 genes per cell on C16
- Carrier = 1 mutated gene, trait = 2 mutated genes // both are asymptomatic
- HbH disease = 3 mutated genes
- Bart’s hydrops = 4 mutated genes and not compatible with life
Presentation
- Normal skeletal appearance, only those of haemolysis
- Jaundice, splenomegaly, pallor, fatigue
Investigations
- FBC (low Hb, low MCV)
- Blood film (microcytic hypochromic cells, raised reticulocytes, target cells)
- PCR
- Iron studies (normal)
- LDH and bilirubin (raised)
Management
- Folic acid
- Rarely = transfusions
What is thrombotic thrombocytopenic purpura?
Pathophysiology
- Antibodies form against ADAMST13 which normally degrades VWF
- Increased VWF clusters/multimers lead to platelet aggregation and microthrombus formation which blocks vessels
- Blocked vessels cause ischaemia + haemolysis while RBCs try to squeeze past each other
Presentation
- Thrombosis/infarction
- Purpura, bruising
- Fever
- Menorrhagia, confusion (fluctuating neurological signs)
- Haemolytic anaemia = jaundice, dyspnoea, fatigue
Investigations
- Blood film (schistocytes)
- FBC (low platelets, normal Hb, normal WCC)
- Bilirubin (raised)
- LDH (raised)
Management
- Plasma exchange
- Rituximab + methylprednisolone (immunosuppressant + corticosteroid)
What is neonatal hypoglycaemia and what do we do?
Hypoglycaemia < 2.6 mmol/L
Transient hypoglycaemia in firsts hours is normal
Persistent hypoglycaemia
- Prematurity < 37 weeks
- Maternal DM
- IUGR
- Hypothermia
- Sepsis
- Inborn metabolic errors
- Beckwith-Wiedemann syndrome
Management
- Asymptomatic and glucose > 1.0 mmol/L = encourage feeding and monitor glucose
- Symptomatic or < 1.0 mmol/L = admit to neonatal unit and give 10% dextrose
How would you manage umbilical hernias?
Normally self-resolves
Large or symptomatic = surgical repair (elective) at 2-3 years
Small < 1.5cm and asymptomatic = surgical repair (elective) at 4-5 years
Incarceration
- If reducible, reduce and repair within 24 hours
- Irreducible = emergency surgery
How would you describe S2 in an ASD?
Fixed split S2
Indicator of RV overload
What is the pathophysiology and management behind rheumatic fever?
Type 2 hypersensitivity reaction occurring after group A streptococcus infection
- 2 to 4 weeks post-tonsillitis
Diagnostic criteria
- 2 major
- 1 major + 2 minor
Investigations
- ASO
- Anti-DNAse B
- Throat swab
- CXR, ECG
- ESR/CRP
Management
- Benzylpenicillin STAT followed by phenoxymethylpenicillin
- Chorea: haloperidol or BDZ
What do you see in the eyes of someone with trisomy 21?
Brushfield spots on iris
What is infantile colic and how would you manage? Are there any complications?
Colic
- At least 3 hours a day 3 days a week for at least 1 week
- Typically occurs in late afternoon/evening
- Is episodic
Presentation
- Young infant < 6m of age
- Inconsolable and excessive crying BUT is otherwise fit, well and growing (distressed during colic, not between)
- Draws knees up into chest (no extension of UL unlike infantile spasms)
- Increased flatulence and bloating
Management
- Reassure parents and DO NOT recommend any treatments
- Encourage parents to get extra support from extended family, nursery nurse, etc.
Complications
- Parental distress
- NAI
- Delayed bonding
- Early cessation of breastfeeding
What is toddler’s diarrhoea?
Diarrhoea containing visible undigested food in toddler who is otherwise fit, well and meeting all milestones
Due to increased motility of the gut = short transit time
What is Hirschsprung’s disease?
Pathophysiology
- Lack of autonomic PSNS ganglia in the distal bowel due to failure of migration
- No Auerbach (myenteric) and Meissner’s (submucosal) plexi therefore no relaxation of colon = bowel obstruction
Associations
- Trisomy 21
- Waardenburg syndrome
- Neurofibromatosis
Presentation
- Delayed passage of meconium
- Constipation unresponsive to laxatives BUT relieved on PR examination
- Abdominal distension
- Bowel obstruction (vomiting, distension, constipation, abdominal pain)
- Lack of appetite and growth (due to lack of intake)
- HAEC: fever + bloody diarrhoea + distension + features of sepsis
Investigations
- Rectal biopsy is gold standard (absent ganglia, increased ACh-esterase on staining)
- AXR (proximal dilation with distal constriction)
- Contrast enema
Management (A-E resuscitation if necessary)
- Bowel irrigation + resection of aganglionic portion
- If Hirschsprung’s enterocolitis = MTZ + A-E resuscitation + surgical resection
What is pyloric stenosis?
Pathophysiology
- Idiopathic hypertrophy and hyperplasia of pyloric smooth muscle
- M>F
- Firstborns
Presentation (first few weeks of life)
- Non-bilious projectile vomiting after every feed (including water)
- Hungry baby who wants to feed
- Signs of dehydration (lethargy, sunken fontanelle, dry mucous membranes, reduced CRT or skin turgor, constipation)
- Olive sized mass in RUQ/epigastrium and visible peristalsis
- Failure to thrive (as essentially no intake)
Investigations
- 1st line = test feed?
- USS
- ABG (metabolic alkalosis, low K+, low Cl-)
Management
- Correct electrolyte imbalance
- Ramstedt pyloromyotomy
What is biliary atresia? How would an infant present and what are the relevant investigations/management?
Pathophysiology
- Idiopathic fibrosis and destruction of the intrahepatic and extrahepatic biliary tree causing outflow obstruction of bile
Epidemiology
- F > M
- Asian ethnicity
Presentation
- First few weeks of life
- Jaundice (obstructive)
- Pale stools and dark urine *abnormal in babies as their urine is normally clear
- Failure to thrive (normal birthweight but subsequent dropping of CE tiles)
- Bruising
- Hepatomegaly/splenomegaly
Investigations
- GS: ERCP
- USS (absent gallbladder, triangular cord sign)
- Bilirubin (raised conjugated bilirubin)
- LFTs (raised, especially GGT)
- FBC (low platelets and WCC)
- Liver biopsy (proliferation + mucous plug)
Management
- Hepatoportoenterostomy +/- ursodeoxycholic acid
- Liver transplant (most common indication for liver transplant in children)
- Nutrient supplements
What is eosopahgeal atresia? How does it present?
Presentation
- Antenatal: polyhydramnios due to inability to swallow
- Drooling/choking/not feeding after birth
- If co-existing tracheo-oesophageal fistula = can present later with cyanosis/choking/cough during feeds
Investigations
- If detected antenatally = pass large bore feeding tube + XR to check position
Management
- Surgical correction
- Suction only relieves symptoms
Associations
- Trisomy 18 (Edward’s)
- VACTERL-H: vertebral defects, anorectal, cardiac, trachea-osophaeal, radial limb, renal
- CHARGE: colobama, heart defects, atresia choanae, reduced intellect, genital hypoplasia, ears
How would you resuscitate neonates?
Neonatal use brachial pulse
- Dry and keep warm is normally sufficient
- Put head in neutral position
- 5 rescue breaths
- No improvement = 30s of ventilation
- Followed by 3:1 ratio of chest compressions to rescue breaths
- Two-thumb encircling method is best
How would you resuscitate children?
Do NOT shake child/infant
- Check for signs of life for 10s (use brachial pulse in infants)
Airway: check if there are any obstructions, open airway via jaw thrust or head-tilt chin-lift
Breathing: check if breathing, give 5 rescue breaths before commencing CPR
Circulation: check for pulse, CPR in 15:2 ratio after the rescue breaths are given
CPR: 1 or 2 hands 4cm compressions // two fingers for neonates-
How would you manage a choking situation?
Encourage coughing if airway is patient (effective cough)
If cough is no longer effective, alternate between
- Back blows and
- Abdominal thrusts/chest thrusts (< 1y)
What is duodenal atresia?
Vomiting early in first 2 days of life
Double bubble sign on AXR
Associated with trisomy 21
Management is by surgical correction
What can you tell me about diaphragmatic hernias?
Malformation of diaphragm causing herniation of abdominal contents into the thorax
- Mediastinal shift of the heart
- Bowel loops present on CXR and tinkling sounds heard on auscultation
- Bronchopulmonary hyperplasia (severely reduced lung capacity)
- ?polyhydramnios in utero
Commonly left-sided (liver ‘protects’ the right) Bochdalek hernia (85%)
Only 50% survive despite medical intervention
What can you tell me about gastrochisis?
Not associated with other congenital abnormalities
Herniation of abdominal contents to the right of umbilicus (bowel only, no liver!)
Abdominal contents are not covered by sac
- Risk of dehydration
Management (normal delivery not CI)
- Wrap and reduce either surgically or using a silo
- NG feed + IV fluids
What can you tell me about exomphalos?
A.k.a. ‘omphalocele’
Associated with many other congenital abnormalities
Abdominal contents protrude through umbilicus and is covered by sac (peritoneum + amniotic membrane)
- Can contain liver
Management
- Allow sac to epithelialise
- Gradual surgical reduction (need time to allow abdominal cavity to grow so it will be able to accommodate contents)
What is necrotising enterocolitis? Who is most likely to get necrotising enterocolitis?
Necrotising enterocolitis
- Infection of the bowel wall secondary to ischaemic injury > necrosis > perforation > peritonitis > shock
- Can cause peritonitis
Risk factors
- Premature infants
- Bottle-fed (formula)
- Low birth-weight
Presentation
- Bloody diarrhoea
- Feed intolerance + vomiting (+/- bile stained)
- Distended abdomen with thin, shiny skin
- Fever + signs of sepsis (tachycardia, tachypnoea, hypotension)
Investigations
- AXR (dilated bowel loops, pneumatosis intestinalis present in intestinal wall; if severe = perforation causing pneumoperitoneum)
Management
- NBM + A-E resuscitation
- Broad spectrum antibiotics: IV metronidazole + gentamicin + ceftriaxone
- Surgical removal of necrotic bowel
- Supportive (e.g., ventilation)
What are some diseases of prematurity? What are complications of premature birth?
Diseases of prematurity:
- Chronic lung disease secondary to bronchopulmonary dysplasia
- Retinopathy of prematurity
- Neonatal hypoglycaemia
- Necrotising enterocolitis
- Neonatal respiratory distress syndrome (surfactant deficiency!)
- Apnoeic spells (as they don’t ‘know’ how to breathe)
- Intraventricular haemorrhage
- Hypothermia
Complications of premature birth:
- Cerebral palsy
- Learning disability
- Seizures
What is transient tachypnoea of the newborn?
Temporary increase in work of breathing of an otherwise healthy infant
- Occurs shortly after birth and lasts < 24 hours
- Increased risk if CS delivery
O2 saturations are normally within normal range
CXR shows hyper-inflated lungs with fluid in horizontal fissure
Manage is supportive (unless O2 saturations are low, then give O2)
What is neonatal respiratory distress syndrome? Who is at risk of developing NRDS?
Surfactant helps reduce surface tension in alveoli allowing for easier expansion
- Produced by type 2 pneumocytes from about 28 weeks
- Lung collapse as difficult to expand = less gaseous exchange = hypoxia + hypercapnia = respiratory distress
Presentation
- Increased work of breathing
- Low oxygen saturations
CXR shows characteristic ‘ground glass appearance’
Management
- Antenatal: maternal dexamethasone
- Ventilation/O2 + surfactant delivered by ET tube to maintain saturations of 90-95%
Risk factors
- Premature delivery (especially without maternal corticosteroids) especially < 32 weeks
- Maternal diabetes (insulin inhibits production of surfactant)
Complications
- Pneumothorax
- IV haemorrhage
- NEC
- Apnoea
- Chronic lung disease of prematurity
- Retinopathy of prematurity
What is bronchopulmonary dysplasia?
Bronchopulmonary dysplasia is the consequence of alveolar and bronchial damage from artificial ventilation
What is meconium aspiration syndrome? How would you manage?
Inhalation of meconium causing chemical pneumonitis
Commoner in post-date infants and those who have been exposed to hypoxia/stress
- Chorioamnionitis
- Smoking
- Substance misuse
Presentation
- Meconium-stained liqueur
- Respiratory distress
Investigations
- CXR (patches of collapse and consolidation, hyperinflation)
- FBC, CRP, blood cultures
Management
- Antibiotics if respiratory distress (ampicillin + gentamicin)
- Oxygen supplementation if necessary
- If fine, observation is sufficient
What is slipped upper capital femoral epiphysis? Who gets it and how would you treat?
Pathophysiology
- Displacement of proximal femoral epiphysis from metaphysis
- Direction = posterior inferior
Definitions
- Stable = can walk
- Unstable = unable to walk even with crutches, risk of osteonecrosis is 50%
Epidemiology
- 10-15 years
- M > F
- Raised BMI
- Can be post-trauma
Presentation
- Hip pain (acute or gradual onset depending on person)
- Reduced internal ROM and abduction
- Limp and leg shortening
- DREHMANN’s sign = in supine position, the passively flexed hip falls back into external rotation and abduction
- Acute onset might not weight-bear due to severity of pain
- Chronic: muscle wasting, Trendelenburg +
Investigations
- XR hip (wide epiphyseal line, displacement of femoral head)
- FBC, blood cultures, CRP
Management
- Immediate bed rest + analgesia
- Surgical fixation across growth plate
What is osteomyelitis? How would you treat? Which organisms are responsible?
What is septic arthritis and how do you manage septic arthritis? What is the Kocher criteria?
Presentation
Investigations
Management
Kocher Criteria
- Fever > 38.5
- Cannot weight bear
- WCC > 12
- ESR > 40 or CRP > 20
What can you tell me about discoid meniscus?
Abnormally shaped lateral meniscus
- Meniscus cushions femur and tibia
- Oval/discoid rather than crescent shaped
- Thicker than ‘normal’ menisci
Normally asymptomatic but (pivoting injury) can cause
- Locking and ‘clicking’ sound when moving
- Pain, swelling and stiffness
- Feeling of ‘giving way’
Imaging of choice = MRI (bow tie sign, thick, flat meniscus)
Management
- 1st line: PT (stretching and strengthening exercises)
- Surgery if significant disability
What can you tell me about systemic JIA?
Presentation
- Daily cyclical fevers + one of
= Pink ‘salmon’ rash
= Lymphadenopathy
= Hepatosplenomegaly
= Serositis
- Arthritis (symmetrical oligoarthritis)
- Malaise
- Weight loss
Investigations
- RF (-)
- ANA (+)
- ESR and CRP (raised)
- Ferritin (raised)
- FBC (low Hb, raised WCC and platelets)
Complications
- Macrophage activation syndrome (VERY high ferritin, low ESR) = DIC, anaemia, thrombocytopenia, non-blanching rash
What can you tell me about polyarticular JIA?
Affects > 4 joints within the first 6 months of disease
- Stiffness, swelling, pain, warmth
Associated with chronic anterior uveitis
RF - is more common than RF + polyarticular JIA
RF - preschool and adolescents
- Symmetrical (more common) = small + large joints (especially fingers)
- Asymmetrical = C-spine and temporomandibular joint // risk of uveitis!
RF + affects adolescents
- Similar to adult RA
- Symmetrical and affects small + large joints (especially fingers)
- Low grade fever + rheumatoid nodules
- Hepatosplenomegaly, lymphadenopathy, serositis
- Uveitis is rare but dry eyes are common
What can you tell me about oligoarticular JIA?
4 or fewer joints affected at 6 months of disease
ANA +, RF -
VERY likely to develop chronic anterior uveitis
Asymmetrical stiffness, swelling, warmth and pain
Commonly affects:
- Knee > ankle
- Wrist or elbows
What is enthesitis JIA?
Similar to adult AS = HLA-B27 +, seronegative (ANA, RF -)
Risk of acute uveitis, psoriasis and IBD
Presentation
- Mainly lower limb
- Mid lumbar spine/sacroiliac joint involvement
- Enthesitis (plantar fasciitis)
- Tender at areas of tendon insertion
What is psoriatic JIA?
JIA associated with psoriasis
ANA and RF -
Risk of chronic anterior uveitis
Small joint arthritis is symmetrical but if large joints are affected, it is asymmetrical
Associated: psoriasis, nail pitting, onycholysis, dactylitis
Diagnostic criteria
- Arthritis + psoriasis
OR
- Arthritis + 2 of 3 from: dactylitis, nail pitting/onycholysis, psoriasis in first degree relative
How do we manage juvenile idiopathic arthritis?
Try your best to avoid prescribing steroids in childhood
1st line: NSAIDs
2nd line (or 1st line if multiple joint involvement or joint requiring at over 3 intra-articular doses of steroids): MTX or sulfasalazine [not in systemic JIA]
3rd: tocilizumab, etanercept, adalimumab, abatacept and other biologics/cytokine modulators
How would coeliac disease present in children?
Pathophysiology
- Alpha-gliadin triggers an immune response in the proximal small intestine
Presentation (around the age of weaning)
- Distended abdomen
- Failure to thrive, irritable
- Gluteal wasting
- Abdominal pain and bloating
- Loose foul-smelling stools that float in the pan (steatorrhoea)
- Dermatitis herpetiformis
- Apthous ulcers
- Angular stomatitis + atrophic glossitis + pallor/dyspnoea/fatigue (anaemia)
- No blood or mucous in stools
Investigations
- IgA titres + IgA tissue-transglutaminase
- 2nd line = IgA anti-endomysial antibodies
- GS: duodenal biopsy (crypt hyperplasia, villus atrophy, lymphocyte infiltration)
- Faecal calprotectin (negative)
Management
- Gluten-free diet (avoid wheat, barley and rye too)
What can you tell me about intestinal malrotation with volvulus?
Presentation (within first few days of life)
- Bilious vomiting + intestinal obstruction
- Abdominal distension
- Abdominal pain (irritable neonate)
- Constipation
- Low BP, raised HR
- High caecum at the midline
Investigations
- UGI contrast study
- USS
Management
- A-E resuscitation
- NBM + surgical correction (Ladd’s procedure)
What is Meckel’s diverticulum? What is the ’Rule of 2s’? What are some common complications?
Remnant of omphalomesenteric (vitelline) duct that connected midgut to yolk sac
- Supplied by a terminal branch of superior mesenteric artery
Rule of 2s
- 2 years of age
- 2:1 M>F
- 2 inches long
- 2 types of ectopic tissue (gastric and pancreatic)
- 2 feet proximal to ileocaecal valve
Presentation
- Can be asymptomatic
- Rectal bleeding (so PR bleeding in younger age is more likely to be Meckel’s than IBD)
- Abdominal pain
- Vomiting
Investigations
- USS 1st line
- Technetium scan
- FBC (low Hb, raised lymphocytes with left shift)
Management
- Asymptomatic = watchful waiting
- Symptomatic = surgical excision
Complications
- Intussusception
- Volvulus/incarceration/strangulation
- Intestinal obstruction
- Diverticulitis
- Haemorrhage
- Umbilical cyst/sinus/fistula/fibrous cord
- Neoplastic change
What is a choledocal cyst?
Pathophysiology
- Dilation of bile ducts causing outflow obstruction of bile
- F>M and more common in East Asia
Presentation
- Obstructive jaundice (pale stools, dark urine)
- Palpable abdominal mass
- Intermittent RUQ pain
- Others: hepatomegaly, bruising, ascites, gallstones (can cause pancreatitis)
Investigations
- GS: MRCP
- Bilirubin (conjugated hyperbilirubinaemia)
- LFTs (raised, cholestasis picture)
- USS 1st line
Management
- Surgical excision! (As increased risk of cholangiocarcinoma .-.)
- + biliary-enteric anastomosis
What can you tell me about intussusception? What are the risk factors, investigations and management?
Pathophysiology
- Telescoping of bowel causing small bowel obstruction
- Mesentery is compressed = distension of wall and obstruction of lumen = disrupted peristalsis, pain and vomiting + ischaemia > gangrenous = perforation
- Commonly ileocaecal but can also be ileo-ileal, etc.
Risk factors whatever that enlarges lymph nodes
- Rotavirus vaccine
- HSP
- Polyp
- Peyer’s patch hyperplasia
- Meckel’s diverticulum
- Preceding infection (e.g., gastroenteritis or URTI)
- Lymphoma
- CF
Presentation (< 18 months old)
- Sudden-onset colicky abdominal pain + distressed (especially during spasms), unwell infant who is tired between episodes
- Red-currant jelly-like stools
- RUQ sausage-like mass
- Absent bowel in RLQ (Dance’s sign)
- Bilious vomiting
- Can have signs of shock (fever, low BP, raised HR and RR)
Investigations
- USS (target sign)
Management
- A-E resuscitation + NBM + IV fluids + analgesia
- 1st line = air enema
- 2nd line = H2O enema
- 3rd line = surgical intervention
What is appendicitis?
Pathophysiology
- Inflammation of the appendix
- Faecolith or stool obstructs lumen = environment for bacteria to proliferate = infection and inflammation
Presentation (rare < 2y)
- Abdominal pain staring around the umbilicus before moving to RIF 2/3 way from umbilicus to right ASIS
- Nausea and vomiting
- Rovsing’s sign, rebound tenderness Blumberg’s, psoas sign
- Guarding
- Fever, anorexia, malaise
- Patient lies STILL (as they will be peritonitic and pain is worse with movement)
- Can have signs of shock (low BP, raised HR)
Investigations
- GS: USS abdomen (unlike adults where CT is preferred)
- FBC (raised WCC)
- CRP (raised)
- Blood cultures
Management
- NBM + surgical referral for appendectomy
- IV fluids + analgesia + antiemetic
- Antibiotics (MTZ + ceftriaxone/cefuroxime)
What is Kawasaki’s disease? What are the diagnostic criteria? How do we manage Kawasaki’s disease?
Pathophysiology
- Idiopathic medium vessel vasculitis
- M > F and affects East Asians
Presentation (think of the mnemonic ‘crash and burn’)
- Fever > 5 days? Think Kawasaki
- Diagnosis requires fever + 4 of
- Bilateral non-exudative Conjunctivitis
- Rash affecting the whole body
- Adenopathy (cervical, unilateral!)
- Strawberry tongue (also = fissuring of lips, erythema of oral mucosa, etc.)
- Hands and feet (erythema, oedema, desquamation)
Investigations
- FBC (low Hb, raised platelets)
- ESR and CRP (raised)
- Echocardiogram (?coronary artery aneurysm)
- LFT (low albumin, raised liver enzymes)
- Dipstick (sterile pyuria)
Management
- High dose aspirin + IV immunoglobulins
- Long-term follow up echocardiograms to screen for coronary artery aneurysm
What can you tell me about vesicoureteric reflux?
What is the ADHD triad? How do we manage ADHD in children and how does this differ from adults?
What is the ASD triad?
What are some causes of neonatal jaundice? What investigations do we perform and when? Are there any treatments for neonatal jaundice?
What is pharyngitis or tonsillitis? How do we treat these conditions?
‘Sore throat’
Commonly caused by viruses (EBV, adenovirus, rhinovirus, influenza and parainfluenza) or bacteria (s.pyogenes, s.pneumoniae, s.aureus, h.influenzae)
Investigations
- Rapid antigen testing
- Throat swab + culture/PCR if need to confirm GAS infection
- FBC + film (atypical lymphocytes if EBV)
- LFT (raised if EBV)
- Serum monospot test if suspecting EBV
Management
- If bacterial (centor 3 or FeverPAIN 4): phenoxymethylpenicillin
- If viral: supportive and safety net
What are the scoring systems used to assess if tonsillitis is bacterial in origin?
CENTOR
- Purulent tonsils
- Fever
- Lymphadenopathy
- No cough
FeverPAIN
- Fever
- Purulent tonsils
- Attending within 72 hours
- Inflammed tonsils
- No coryza/cough
What can you tell me about pneumonia in children? What antibiotics do we use?
Organisms
- Neonatal: group B streptococcus (agalactiae), staphylococcus aureus, Klebsiella, E.coli
- Pre-school: streptococcus pneumoniae
- School-aged: group A streptococcus, Klebsiella, Bordetella, haemophilus, staphylococcus aureus, s.pneumoniae mycoplasma pneumoniae
Presentation
- Young children do not produce sputum
- Cough, high fever (irritable, clingy, lethargic, poor feeding)
- Dyspnoea
- Can have abdominal pain
- Increased work of breathing (tracheal tug, intercostal/subcostal recessions, tachypnoea, head bobbing, nasal flaring, abnormal breathing sounds, cyanosis, accessory muscle use)
- Signs: tachypnoea, tachycardia, focal coarse crackles, bronchial breathing, dullness to percussion, increased vocal resonance, pleural rub
Management
- < 3 months = urgent referral to paediatrics for investigation/admission
Antibiotics (> 3 months)
- 1st line: amoxicillin
- 2nd line: co-amoxiclav
- If atypical add clarithromycin
- Penicillin allergy = clarithromycin/erythromycin (pregnancy)
- O2 if < 92%
What is bronchiolitis?
LRTI commonly caused by RSV infection
- Most common in infants < 12 months due to small airways
- Hyponatraemia is a common complication
Presentation
- Winter months
- Coryzal prodrome + mild fever
- Increased work of breathing (tachypnoea, nasal flaring, head bobbing, intercostal/subcostal recessions, tracheal tug, accessory muscle use, cyanosis, apnoea, abnormal breathing sounds)
- Widespread wheeze and hyper-inflated chest
- Cough
- Decreased feeding, lethargy, clingy, irritable
Management
- Supportive (antipyretics + fluids)
- Oxygen if saturations are < 92%
- NO OTHER MEDICATIONS
- +/- suctioning if secretions are affecting feeding
- Prophylactic pavilizumab if high risk of severe bronchiolitis infection
What is croup?
Laryngotracheobronchitis caused by parainfluenza infection or rarely, diphtheria
- Common in 1-3 year olds
Presentation (worse at night, worse on the 3rd night)
- Commoner in autumn months
- Barking cough
- Inspiratory stridor
- Hoarse voice
- Coryzal prodrome + mild fever
- +/- increased work of breathing (but child appears well vs acute epiglottitis)
Management
- Clinical diagnosis
- 1st line: PO dexamethasone
- 2nd line: IM dexamethasone or nebulised budesonide
- 3rd: nebulised adrenaline + O2 if severe or an emergency
When to admit?
- Anyone with moderate-severe croup needs admission
= Moderate: recessions + stridor at rest but normal alertness
= Severe: as moderate but with agitation/lethargy
- < 6 months old
What is epiglottitis?
A medical emergency
- Do NOT aggravate the child as you risk them closing the airway!
- Caused by Haemophilus influenza B (now very rare due to vaccinations)
Presentation
- Very acute onset
- Drooling + tripod position + ill-looking child
- High fever
- Sore throat and dysphagia
- Barely breathing (no/soft stridor, no wheeze, no cough) as the airway is extremely narrow
- Muffled voice
Management
- Escalate to senior paediatrician and anaesthetist
- Secure airway then give IV ceftriaxone
- +/- dexamethasone
Investigations (NOT required)
- XR (thumb-print sign)
- Fibre-optic laryngoscopy
Complications
- Epiglottic abscess
What is a viral-induced wheeze? How do we manage a viral wheeze?
Commonly caused by RSV or rhinovirus
Presentation (acute onset)
- < 5 years and well between episodes unlike asthma
- Widespread wheeze, dyspnoea and increased work of breathing on background of viral illness (cough, coryza, fever)
- Decreased feeding, lethargy, irritability, clingy
Investigations
- None
Management (like acute asthma without steroids)
- Salbutamol inhaler given with a spacer
- 2nd line: salbutamol + O2
- 3rd: nebulised salbutamol
- 4th: ?IV MgSO4, aminophylline
- 5th: intubation and ventilation
What can you tell me about cystic fibrosis? What type of diet should they consume?
Pathophysiology
Presentation
Investigations
Management
- Diet: high calorie + high fat + enzyme supplements at every meal
Complications
- Infertility
- Recurrent chest infections causing bronchiectasis
- Respiratory failure
What is acute otitis media? What do you see on otoscopy and how do we manage?
Infection and inflammation of the middle ear commonly caused by streptococcus pneumoniae or staphylococcus aureus
Risk factors
- URTI
- Supine feeding, dummy use
- Measles infection
- Parental smoking
- Attending nursery
- Cleft palate, trisomy 21, Turner syndrome
- Primary ciliary dyskinesia, immunosuppression
Presentation
- URTI: fever, irritability, malaise, coryza, sore throat
- Acutely painful ear (tugging ear)
- Conductive hearing loss
- Vertigo/dizziness if vestibular system involved
- +/- discharge
- Crying, vomiting, poor feeding
- Otoscopy: red, bulging tympanic membrane with effusion behind tympanic membrane
Managment
- Supportive
- If < 18 years can give anaesthetic + analgesic drops
- Antibiotics only if perforation or systemically unwell or < 2 years and bilateral AOM: PO flucloxacillin or co-amoxiclav
What is otitis media with effusions?
Risk factors
- Trisomy 21
- CF
- Primary ciliary dyskinesia
Presentation
- Problems with balance
- Conductive deafness
- Ear fullness
- Otoscopy: dull, retracted tympanic membrane with visible fluid-level
Investigations
- Audiometry
- Tympanometry
Management
- 3 month watchful waiting + valsalva manoeuvre
- Grommets or myringotomy
- Hearing aids
What can you tell me about a cholesteatoma?
Pathophysiology
- Abnormal collection of keratinised squamous cell epithelial cells in middle ear
- Very locally invasive (intracranial abscess, CN7 palsy, sensorineural hearing loss)
Presentation
- Foul smelling discharge
- Unilateral conductive hearing loss (if not yet invaded nerves)
- Pain
- Vertigo
- CN7 palsy
Investigations
- Otoscopy: deep retraction pocket with white debri in upper tympanic membrane
- MRI
Management
- ENT referral for surgical excision
- Semi-urgent referral unless neurological symptoms are present
What is otitis externa? Which organisms normally cause otitis externa?
Causative organism: pseudomonas aeruginosa or staphylococcus aureus
Malignant OE = infection causing osteomyelitis of temporal bone + adjacent structures (ENT urgently + IV antibiotics)
Presentation
- Acutely painful ear canal and pinna
- Fever
- Discharge + itching
- Erythematous tympanic membrane
Management
- No swimming for 7-10 days
- Mild: acetic acid drops
- Moderate-severe: antibiotic (cirprofloxacin, gentamicin) + steroid (betamethasone, dexamethasone, hydrocortisone)
- Severe: PO flucloxacillin or clarithromycin
What can you tell me about the NIPE?
Eyes
- Checks for congenital cataract and retinoblastoma
- Checks that there are 2 eyes
- Congenital cataract = absent red reflex
- Retinoblastoma = white reflex
- Abnormality at birth = seen within 2 weeks
- Abnormality at 6-8 week check = seen by 11 weeks old
Heart
- Listening for murmurs
- Palpate brachial and femoral pulses
- Abnormality = seen before discharge home
Hips
- Barlow and Otolani’s tests
- Abnormality at birth = seen by orthopaedics by 6 weeks
- Abnormality at 6-8 weeks = seen by 10 weeks
Who else gets USS hip?
- FHx early childhood hip problems
- Breech at delivery from 28 weeks
- Breech from 36 weeks no matter presentation at delivery
- Twin (or more) pregnancy where at least one meets the breech criteria as above
Testes
- Checks for hyposphadias
- Bilateral = urgent paediatric review
- Unilateral = review at 6-8w check, if still undescended = re-check at 4-5 months and if still undescended = urgent urology referral
How do we test the hearing of infants/children?
Newborn: autoacoustic emissions test
- If unsure or suspecting hearing impairment = proceed to brainstem auditory stimulation test
School-age: pure-tone audiometry when entering school
When to suspect sepsis in older children/adolescents?
> 12 years have the same vital ranges as adults
A high fever that does not respond to antipyretics generally indicates bacterial infection
How do you manage Kawasaki’s disease?
High dose aspirin + IV immunoglobulins
NOT steroids
What are some features of hypernatraemic dehydration?
Jittery movements
Hypertonia
Hyperreflexia
Seizures
Drowsiness/coma
When do you refer a baby who is struggling to breastfeed?
Refer to midwife-led breastfeeding clinic if > 10% birthweight is lost within first week of life
What is a reflex anoxic seizure?
Seizure occurring after pain/discomfort
- Increased vagal response triggers cardiac asystole
Child becomes pale and falls to the ground
Associated with tonic colonic movements but with rapid recovery
What is a breath holding spell?
Child is upset - crying/screaming and holds breath in expiration
Goes blue, apnoeic and falls to the ground (requires breath to be held for some time)
What are some AD inherited conditions?
Achondroplasia
Huntington’s
Ehlers-Danlos
Noonan syndrome
Neurofibromatosis
Tuberous sclerosis
Marfan’s
OI
What are some AR inherited conditions?
Thalassaemia
Sickle cell
Friedreich’s ataxia
CF
Congenital adrenal hyperplasia
Galactosaemia
Haemachromatosis
Oculocutaneous albinism
Tay-Sachs
What are some X-linked recessive conditions?
Haemophilia
Fragile X syndrome
Duchenne’s
G6PD deficiency
Red-green colour blindness
When do you get a morbilliform rash?
EBV infection taking amoxicillin
Presents as a generalised maculopapular rash
What is an important differential for croup?
Bacterial tracheitis- does not improve with croup treatment
Caused by staphylococcus aureus
