Paediatrics Flashcards
Resp distress Px
- Increased RR
- Tripod pos
- Stridor / wheeze / grunting
- Tracheal tug
- Accessory muscle use - SCM…
- Supraclavicular / suprasternal / intercostal / substernal / subcostal recession
- Abdominal breathing (see-saw)
- Head bobbing
- Nasal flaring
Term neonate maintenance fluids
Use 10% dextrose
Birth-D1 - 50-60ml/kg/d
D2 - 70-80
D3 - 80-100
D4 - 100-120
D5-28 - 120-150
Child >28d maintenance fluids
0.9%NaCl + 5% glucose
100ml/kg/d for first 10kg
50ml/kg/d for next 10kg
20ml/kg/d for every kg over 20kg
(4,2,1ml/kg/hr)
Paeds replacement fluid
0.9% NaCl + 5% glucose + K replacement if needed
% dehydration = (well weight-current weight)/well weight x 100
deficit (ml) = % dehydration x weight (kg) x 10
Paeds resus fluids
Bolus 0.9% NaCl 10ml/kg over 10 mins
Developmental milestones
GO OVER THIS AGAIN
Milestones concerns
Gross motor
Not sitting by 1yo
Not walking by 18mo
Fine motor
Hand preference before 18mo
Speech + language
Not smiling by 3mo
No clear words by 18mo
Social development
No response to carers by 8wks
Not interested in playing with peers by 3yo
RED FLAGS
regression
poor health / growth
significant FHx
Examination - microcephaly, dysmorphic features
safeguarding indicators
Shaken baby syndrome
Intentional shaking of child 0-5yo
retinal haemorrhages
subdural haematoma
encephalopathy
Bronchiolitis
Acute infection of bronchioles
RSV
<1yo, mostly <6mo - in winter
RFs
prem, SGA, <12wks, congenital HD, nursery…
RSV course
URTI (coryza)
50% get better
50% chest sx in 1-2d
Worse d3-4, lasts 7-10d, max 2-3wks
Bronchiolitis Px
Coryza
Cough, SOB, increased RR, reduced feeding, irritable
Mild fever
Apnoeas
Wheeze / crackles bilaterally
Bronch Ix
Immunofluorescence of nasopharyngeal secretions may show RSV
Clinical dx
NPA - nasopharyngeal aspirate
Blood gases if severe, CXR
Bronch reasons for admission
<3mo, pre-existing condition, reduced feeding, dehydrated, increased RR, resp distress, low sats, apnoeas, parents struggling to manage
Bronch Mx
Supportive - calpol, feeds, nasal suctioning, O2
Ventilatory support - high flow O2, CPAP, intubation
Palivizumab - MAb for prevention - for high risk, prem…
Viral-induced wheeze
Acute wheeze from viral infection
RSV / rhinovirus commonly
Viral induced wheeze Px
SOB
Coryza
Fever
Resp distress
Global wheeze
Viral induced wheeze Mx
Salbutamol nebs
Pred
Mg
Monteleukast
Inhaled corticosteroids later on
Croup
URTI - inflammation of larynx
Acute laryngotracheobronchitis
6mo-6yo, peak 2yo
Parainfluenza
Croup Px
Coryza
Barking cough
Stridor, resp distress
Drowsy, lethargic, cyanosis
Croup Ix
Clinical Dx
XR - steeple sign
Croup Mx
Oral dexamethasone 0.15mg/kg oral, rpt dose after 12hrs if needed
O2, nebulised budesonide / adrenaline, intubate
Epiglottitis
Inflammation of epiglottis
H influenzae B
Vaccine against
Epiglottitis Px
Sore throat
Stridor
Drooling
Tripod
High fever
Dysphagia
Muffled voice
Unwell
Epiglottitis Ix
lateral neck XR - thumb sign
Laryngoscopy is dx
Throat swab / culture
Epiglottitis Mx
Do not distress
Anaesthetist / ENT
IV ceftriaxone once airway secure
Rifampicin to household contacts
Whooping cough
URTI from Bordetella pertussis (G-)
Resp droplet spread
Stay off school for 21d after sx onset, or 48hrs after abx
Whooping cough Px
2-3d coryza
Coughing fits
Loud inspiratory whoop
Faint, vomit, PTX, epistaxis…
Apnoeas
Whooping cough Ix
Nasal swab PCR
Anti-pertussis toxin IgG
Bloods - WCC raised
Whooping cough Mx
Notify PHE (equivalent)
Supportive / admit
Macrolide within 21d - clarithromycin / azithromycin / erythromycin (ery if pregnant)
Co-trimoxazole alternative
Prophylactic abx for vulnerable contacts - pregnant, unvaccinated
Acute asthma
chronic inflammation + reversible obstruction of airways
Acute asthma px
SOB
Wheeze
cough
nocturnal cough
tight chest
Sx are intermittent, variable, worse at night, triggered
Acute asthma severity
Mild/moderate
PEF>50%
normal speech
Severe
SOB to talk/feed
Deranged obs
sats <92%
PEF <50%
Life-threatening
Cyanosis, pallor
silent chest
poor resp effort
reduced GCS
sats <92%
PEF <33%
Acute asthma Mx
- O2
- Salbutamol inhaler 4-6 puffs every 4hrs / 10 puffs every 2hrs
- Nebulised salbutamol + ipratropium
- 3d oral prednisolone
- IV Mg
- IV salbutamol
- IV aminophylline
- Monitor K
Discharge when child well on 6 puffs 4hrly
Chronic asthma
Chronic inflammatory airway disease, reversible obstruction
Atopic
Omalizumab - potential tx - anti IgE
Chronic asthma px
episodix dx, intermittent exacerbations
diurnal variability - worse at night / early morning
dry cough
wheeze
SOB
triggers
Hx of atopy
Chronic asthma Ix
- Clinical dx after 5yo
- Spirometry + reversibility testing
- Direct bronchial challenge - histamine / methacholine
- FeNO
- Peak flow variability
Chronic asthma Mx <5yo
- salbutamol
- low dose ICS / montelukast
- other step 2 option
- refer to specialist
Chronic asthma Mx 5-12yo
- Salbutamol
- Low dose ICS
- Salmeterol
- medium dose ICS, ?montelukast / theophylline
- High dose ICS
- refer
Chronic asthma Mx >12yo
- salbutamol
- ICS low dose
- salmeterol
- medium dose ICS, ?montelukast / theophylline / tiotropium
5 . high dose ICS, add other option 4 options, refer - Oral daily steroids
Pneumonia
Lung infection - inflammation of lungs, exudate production
Bacterial - Strep pneumonia, GAS, GBS, S aureus, H influenza, M pneumonia
Viral - RSV, parainfluenza, influenza
Pneumonia Px
cough
fever >38
raised RR, HR
IWOB
Sepsis
focal coarse creps
Bronchial breath sounds
Pneumonia Ix
Bloods
CXR - consolidation
Sputum culture
Throat swabs
Pneumonia Mx
Amoxicillin / benpen
Add macrolide if atypical / mycoplasma / chlamydia
Co-amox
O2
Laryngomalacia
Floppy larynx -> partial obstruction
Tissue around supraglottic larynx is softer -> stridor
Px
Stridor, intermittent
Worse when feeding, upset, lying on back
Mx
usually grow out of it
Rarely - tracheostomy, surgery to alter larynx
Chronic lung disease of prematurity (CLDP)
- Bronchopulmonary dysplasia
- Occurs in prem babies <28wks, suffer resp distress syndrome, need I+V at birth
- CXR changes later, infant may need O2 after 36wks
Px
Low sats, IWOB
Poor feeding/weight gain
Crackles / wheeze
Increased infections
Mx
Home O2, wean
Pavilizumab for RSV prevention
Prevention
steroids in prem labour
CPAP > intubation after birth
Caffeine for apnoeas
Cystic fibrosis
Autosomal recessive multi-organ disease
Mutation in CFTR gene -> thickened secretions - (low Cl secretion, increased Na resorption, high sodium sweat…)
Resp disease, concentrated bile, water deficiency in bowel, pancreatic insufficiency
CF Px
Neonates
Failure to thrive
Meconium ileus
Rectal prolapse
Resp
Cough, thick mucus, wheeze, recurrent infections, bronchiectasis, sinusitis, nasal polyps, spon PTX, haemoptysis, SOB
Malabsorption, DM, steatorrhoea, gallstones, infertility, clubbing, osteoporosis
CF Ix
- Screen with newborn spot test
- Sweat test - high Na + Cl
- Genetic testing
- Pulmonary function tests
CF Mx
Chest physio
Exercise
High calorie diet
Abx
Dornase alfa nebs - mucolytic
Salbutamol nebs
Nebulised hypertonic saline
CREON tablets
Vit ADEK
Ursodeoxycholic acid
Fertility Tx
Lung / liver transplant
Primary ciliary dyskinesia / Kartagner’s syndrome
Cilia affected, autosomal recessive - consanguinity
Frequent LRTIs, reduced fertility
Kartagner’s triad
Paranasal sinuses
Bronchiectasis
Situs invertus
Chest physio, high calorie diet, abx
Bacterial tracheitis
Infection of trachea
Pseudomonas
IV cefotaxime, fluclox
Congenital HD
Acyanotic
VSD, ASD, PDA, coarc, AS
Cyanotic
TOF, TGA, tricuspid atresia
Mx at birth of cyanotic
Supportive
Prostaglandin E1 (alprostadil) - keeps PDA open
Innocent murmurs
Venous hums - turbulent blood flow in great veins - continuous blowing noise below clavicles
Still’s murmur - low-pitched sound heard at L lower sternal edge
PDA
- Patent ductus arteriosus
- L->R shunt (aorta -> pulm artery)
- fetus pulm vascular resistance high, shunt R->L to bypass lungs (also flows from RA->LA through foramen ovale)
- resistance decreases at birth, duct closes due to decreased resistance
- may stay open - genetics, prem, maternal rubella
- Leads to pulm HTN, Eisenmengers, RVH, RHF, eventually LHF
Px
- continuous machinery murmur
- SOB, difficulty feeding
Ix
- ECHO
Mx
- Indomethacin - prostaglandin inhibitor
- Transcatheter / surgical repair
- monitor for 1yr with ECHOs
ASDs
Hole in septum between atria
L-R shunt
Then RHF, pulm HTN, Eisenmengers, R->L, cyanotic
Px
Mid systolic murmur (from increased flow across pulm valve due to more blood in R heart
Fixed split S2
SOB, difficulty feeding, URTIs
Ix
ECHO
Mx
Can w+w
Transvenous / surgical closure
VSDs
Hole in septum between ventricles
Downs, Turners association
L-R, becomes R-L with Eisenmenger’s
Px
- pan-systolic murmur
- SOB, poor feeding, failure to thrive, cyanosis
Ix
- ECHO
Mx
- w+w if small, may close spontaneously
- Surgical / transvenous closure
AVSD
Hole in centre of heart - involves ventricular, atrial septum, mitral, tricuspid valves
Down’s association
Px
SOB neonate
Poor weight gain / feeding
Eisenmenger’s over time
Mx
surgical repair
Eisenmenger’s syndrome
Reversal of L-R shunt in congenital HD due to pulm HTN
In L-R - high pressure pulm flow - damage to pulmonary vasculature, increased resistance through lungs -> pulm HTN, reverse shunt to R-L, cyanotic pt
associated with ASD, VSD, PDA
Px
Original murmur may disappear
Cyanosis
Clubbing
RVF
Haemoptysis
Mx
Heart-lung transplant
Tx pulm HTN
Coarctation of aorta
- Congenital narrowing of aortic arch, usually around ductus arteriosus
- Turner’s association
- Collateral vessels grow
Px
- weak femoral pulses
- high BP in head, neck, R arm, low BP in lower limbs
- systolic murmur
- radiofemoral delay
- SOB, poor feeding, grey/floppy
Ix
- USS, CT angio
Mx
- if severe, prostaglandin E to keep duct open
- surgical correction
Aortic stenosis
- Congenital narrowing of aortic valve
- bicuspid aortic valve
Px
- fatigue, SOB, dizzy, faint
- HF at birth
- ejection systolic murmur in aortic area
- slow rising pulse, narrow pulse pressure
Ix
- ECHO
Mx
- percutaneous balloon aortic valvuloplasty
- surgical valvotomy
- valve replacement
Pulmonary stenosis
- congenital narrowing of pulmonary valve
- associations - TOF, William, Noonan, congenital rubella
Px
- SOBOE, dizzy, faint
- RHF
- Ejection systolic murmur in pulmonary area
Ix
- ECHO
Mx
- Balloon valvuloplasty
- valve replacement
Tetralogy of Fallot
- VSD, PS, RVH, overriding aorta (allowing blood from both ventricles in)
- R->L (stenosis of RV outflow means R pressure >L - cyanotic
RFs
- rubella, older mother, alcohol in pregnancy, diabetic mother
Px
- picked up on scans
- central cyanosis
- clubbing
- low birth weight + growth
- SOB
- ejection systolic murmur
Ix
- ECHO
- CXR - boot shaped heart
Mx
- prostaglandin infusion
- surgery
Tet spells
- cyanotic episode, R-L shunt worsened
- when pulm vasc resistance increases, or systemic resistance decreases
- eg exertion (CO2 is vasodilator), crying
Px
- low sats
Mx
- squat
- knees to chest
- O2
- IV fluids - increase preload, increase vol to pulm vessels
- Morphine - reduce resp drive - more effective breathing
- sodium bicarb - acidosis
- phenylephrine infusion - increase SVR
Ebstein’s anomaly
- Congenital - tricuspid valve lower, big RA, small RV
- poor flow to pulm vessels, poor flow from RA-RV
- associated with ASD, WPW
Px
- HF, oedema
- S3,4
- cyanosis, SOB, collapse
- worse when duct closes, a few days after birth (blood could flow from aorta -> pulm vessels to get oxygenated)
Ix
- ECHO
Mx
- Tx arrhythmias, HF
- Surgery
Transposition of great arteries
- Attachments of aorta / pulmonary trunk swapped
- increased risk in diabetic mothers
- RV pumps into aorta, LV into pulmonary vessels - 2 separate circulations - cyanosis
- survival depends on PDA (or ASD / VSD if present)
Px
- detected on antenatal scans
- cyanosis at birth, raised RR
- shunt compensates to begin
- resp distress, tachycardia, poor feeding, sweat
Ix
- CXR - egg on side appearance
Mx
- prostaglandin infusion
- balloon septostomy - make ASD
- open heart surgery
HF
Causes
- malformation, cardiomyopathy, pericardial effusion, myocarditis, arrhythmias
Px
- poor feeding, failure to thrive
- sweaty
- SOB - during feeding
- raised RR, HR
- Gallop rhythm, rapid weight gain, enlarged liver
Ix
- CXR, ECG, ECHO, BP (upper/lower limbs), sats (on pre/post ductal limbs)
Mx
- Sit up, NG feed, O2
- Furosemide + spironolactone
- Monitor K
Arrhythmias
SVT
- SOB, poor feeding, HF, pallor, palpitations
- ECG, cardiac monitoring
- A-E, DC shock if shocked, vagal manoeuvres (diving reflex, carotid massage, valsalva), adenosine, flecainide / amiodarone
VT
- much the same
- shock, amiodarone, Mg
Brady
- A-E, o2
- adrenaline bolus + infusion
- atropine
Constipation causes
Idiopathic, poor fluid/fibre intake
Hirschsprung’s
CF
Hypothyroid
Spinal cord lesions
Sexual abuse, safeguarding
Intestinal obstruction
Anal stenosis
Cow’s milk intolerance
Encopresis
faecal incontinence >4yo - overflow past impaction - rectum desensitised
Constipation red flags
meconium ileus
neuro sx
vomiting
abdo pain
abnormal anus
failure to thrive
Constipation Mx
Hydrate, fibre
Disimpaction
Movicol
After 2wks if no disimpaction, add senna / docusate
Can use lactulose if movicol not tolerated
Maintenance
Movicol
Faltering growth causes
Not enough in
ineffective feeding, GORD, feed refusal
Mx - NG feed, gastrostomy
Not absorbed
anaemia, biliary atresia, coeliac, infections, IBS, CF, CMPA
Too much used up
chronic infections (HIV, TB), CLDP, con HD, hyperthyroid, asthma, malignancy, IBD
abnormal central control
GH, thyroid, psychosocial influence, avoidant/restrictive food intake disorder
GORD
reflux of stomach contents via LOS - immature in babies
Causes of vomiting
overfeeding
GORD
pyloric stenosis - projectile
gastritis / GE
appendicitis
infections - UTI, tonsillitis, meningitis
intestinal obstruction
bulimia
GORD Px
Reflux after larger feeds
vomiting
chronic cough
hoarse cry
unsettled after feeds
reluctant to feed
poor weight gain
GORD red flags
bile
projectile
blood
reduced GCS
blood in stools
rash - eg CMPA
?aspiration
GORD Mx
- small meals
- Gaviscon, thickened milk
- omeprazole / ranitidine if nothing else works
- severe - barium meal, endoscopy, surgical fundoplication
Sandifer’s syndrome
torticollis / dystonia with GORD - refer for assessment
Pyloric stenosis
hypertrophy + thickening of pyloric sphincter
prevents food moving from stomach to duodenum
Pyloric stenosis Px
~1mo
failure to thrive
projectile vomiting - milky
see peristalsis in abdo
palpate pylorus - olive
Pyloric stenosis Ix
Blood gas - high pH, low Cl, low H, low K - metabolic alkalosis
Abdo USS
Pyloric stenosis Mx
Laparoscopic pyloromyotomy (Ramstedt’s operation)
Gastroenteritis
infection of intestines
Viral - rotavirus, norovirus, adenovirus
Bacterial - E coli, campylobacter, shigella, salmonella ….
Px
N+V+D
abdo pain
fever
blood in stools
Ix
stool sample
bloods
assess hydration
Mx
off school
fluids, dioralyte
maintain feed
no-antiemetic / anti-diarrhoea
Coeliacs
Autoimmune reaction to gluten - inflammation in SI - villous atrophy and malabsorption - jejunum mostly
Associations
T1DM, thyroid, PBC, PSC, Down’s, autoimmune hep
Coeliacs Px
Asym
Failure to thrive
diarrhoea
fatigue
wt loss
mouth ulcers
anaemia - iron, B12, folate
Dermatitis herpetiformis
Neuro sx - neuropathy, ataxia, epilepsy
Coeliac Ix
- raised anti-TTG
- raised anti-EMA
- check total IgA - exclude deficiency (would show false negative for ABs)
- endoscopy + biopsy - crypt hypertrophy + villous atrophy
Coeliac Mx
gluten free diet
Biliary atresia
Bile duct narrowed / absent -> cholestasis, build up of conjugated bilirubin
Biliary atresia Px
- jaundice after birth >14d (>21 if prem)
- dark stools, pale urine
- failure to thrive
- HSM
Biliary atresia Ix
- LFTs, bilirubin, serum A1AT
- USS biliary tree
Biliary atresia Mx
Surgery - Kasai portoenterostomy
May need liver transplant
Duodenal atresia
Downs, Vacterl association
Blind end to duodenum
Bilious vomiting
USS - double bubble sign
Small bowel atresia
may have multiple
…..
Intestinal obstruction causes
Meconium ileus
Hirschsprung’s
oesophageal atresia
intussusception
imperforate anus
malrotation + volvulus
Obstruction Px
vomiting, bilious
abdo pain, distension
not passing wind / stools
abnormal BS
Obstruction Ix
Abdo XR - dilated loops proximal, collapsed loops distal
Obstruction Mx
Surgery - laparotomy
NBM, NG tube, IV fluids
Hirschsprung’s disease
congenital - absence of nerve cells in myenteric plexus (Auerbach’s) in distal bowel / rectum
Aganglionic cells do not relax - bowel remains constricted, obstructs faeces
Hirschsprung-associated enterocolitis (HAEC)
- infection with hirschsprung’s
Hirschsprung’s Px
depends how much bowel affected
acute intestinal obstruction after birth
delay passing meconium >24hrs
chronic constipation, abdo pain, distension
failure to thrive
Hirschsprung’s Ix
AXR - obstruction
Rectal biopsy
Hirschsprung’s Mx
IV fluids
IV abx in HAEC
Bowel washouts
Surgery to remove affected bowel - pull through op / stoma
Intussusception
Bowel telescopes
Commonly ileocaecal
6mo-2yo,
obstructs faeces
Intussusception Px
Colicky abdo pain - draw legs up
pale, lethargic, unwell
redcurrant jelly stool - late
sausage RUQ mass
vomiting - milky, then green
Obstruction
Intussusception Ix
USS - target like mass
Contrast enema
Intussusception Mx
Enema - air insufflation
surgery - laparotomy - reduction +/- resection
Meckel’s diverticulum
- diverticulum of ASI - remnant of a duct
- 2% of pop, 2ft from IC valve, 2in long
Px
- abdo pain
- painless PR bleed (may be massive)
- obstruction
Ix
- Meckel’s scan…
- CT angio if severe
Mx
- surgical removal
Appendicitis
inflammation of appendix
Appendicitis Px
- Abdo pain - central, moving to RIF, tender in McBurney’s point (1/3 from ASIS to umbilicus)
- Anorexia
- N+V
- Rovsing’s sign - palpation of LIF causes pain in RIF
- Guarding
- Rebound tenderness, percussion tenderness
- Although - children more likely to present atypically
Appendicitis Ix
Bloods, inc CRP
?CT
USS
Diagnostic laparoscopy
Appendicitis Mx
Laparoscopic appendicectomy
IBD
UC / Crohns - inflammation of walls of GIT - remission / exacerbation
Crohn’s features
- Entire GI tract
- Skip lesions on endoscopy
- Terminal ileum most affected
- Full thickness of wall affected - transmural
- Less commonly blood / mucus
- Associated with wt loss, strictures, fistulas
- Granuloma, fissures, fistula, abscesses, strictures
UC features
- Continuous inflammation, colon and rectum only
- Only superficial mucosa
- Smoking protects
- Blood + mucus
- Primary sclerosing cholangitis associated
IBD Px
Diarrhoea
Abdo pain
bleeding
wt loss
anaemia
fever, malaise, dehydration
finger clubbing, erythema nodosum, episcleritis, iritis, arthritis, PSC
IBD Ix
Bloods
Faecal calprotectin
OGD + colonoscopy
Imaging - USS / CT / MRI
Crohn’s Mx
Induce remission
- oral pred / IV hydrocortisone
- immunosuppressants
Maintain remission
- azathioprine / mercaptopurine
Surgery
- remove affected bowel, strictures, fistulas
UC Mx
Induce remission
- mild/mod - mesalazine, then pred
- severe - IV hydrocortisone, IV ciclosporin
Maintain remission
- mesalazine, azathioprine, mercaptopurine
Surgery
remove bowel
Colic
Inconsolable crying, 1wk-3/4mo
R/o other causes - eg GI motility….
Mx
reassure
soothing strategies
support - health visitor, friends
Toddler’s diarrhoea
1-5yo
stool - foul smelling, watery, mucus, undigested veg
Short mouth->anus transit time
No failure to thrive
Balanced diet to mx
congenital diaphragmic hernia
herniation of abdo viscera into chest - incomplete formation of diaphragm
can lead to pulmonary hypoplasia, resp distress after birth
Ix
USS, fetal MRI, CXR
Mx
Surgery
Gastroschisis
Bowel out of abdo, through defect in abdo wall, no covering
Mx
May attempt vaginal delivery
Surgery ASAP after
Exomphalos / omphalocele
Abdo contents protrude through anterior abdo wall, covered by sac
Mx
C-section birth
staged repair - infant needs to grow to fit bowel
Hernias
Umbilical
common
Typically resolve by 3 years of age
If large or symptomatic- elective repair age 2-4
If small and asymptomatic perform repair at 5 years old
Inguinal
indirect in children, urgent in neonates
can’t get above it, doesn’t transilluminate
Necrotising enterocolitis (NEC)
prem babies, necrotic bowel, perforation, peritonitis
Px
not feeding
vomit, green bile
unwell
distended abdo, shock
Ix
Bloods
AXR - dilated bowel loops, bowel wall oedema, pneumatosis intestinalis (gas in bowel wall)
Mx
NBM, IVF, TPN, abx, surgery to resect
Malrotation + volvulus
anomaly of rotation of midgut (occurs in 1st trim)
Px
24hrs old
Green vomit, bile
abdo distention
blood / mucus in stools / bowels not opening
pale
not feeding
Ix
AXR, USS
Mx
IVF, laparotomy (Ladd’s - division of Ladd bands, widen mesentry base)
Hepatoblastoma
Malignant liver ca
Px
asym
abdo mass
poor appetite, wt loss, fever, vomit, jaundice
Ix
raised alpha-fetoprotein
CXR, USS, CT / MRI
Biopsy
Mx
Surgical resection
chemo
transplant
Kwashiorkor
malnutrition - reduced protein
Px
oedema (reduced albumin)
Enlarged liver (fatty)
hair thinning, teeth loss
anorexia, muscle atrophy, distended abdo
Ix
clinical dx
Mx
feed
Marasmus
Malnutrition of all food groups
Px
wasting, loss of fat, hypothermia, pyrexia, anaemia, dehydration, dry skin, brittle hair
Mx
refeed slowly
Choledochal cyst
Bile duct cyst -> obstruction + retention of bile
Px
intermittent abdo pain, jaundice, RUQ mass
jaundice, vomiting, enlarged liver
pale stools, dark urine
Ix
bloods, USS, CT, MRCP
Mx
Surgery
Vaccines at birth
BCG if RFs present
2mo
6 in 1 (diphtheria, tetanus, pertussis, polio, Haemophilus influenzae type B (Hib), hep B)
Oral rotavirus vaccine
Meningitis B
3mo
6 in 1 vaccine
Oral rotavirus vaccine
Pneumococcal conjugate vaccine (PCV)
4mo
6 in 1 vaccine
Meningitis B
12-13mo
Hib / Men C - one jab
MMR
PCV
Men B
2-10yo
Flu (annual)
3yr4mo
4 in 1 (diphtheria, tetanus, pertussis, polio)
MMR
12-13yo
Human papillomavirus (HPV) - 2 jabs 6-24mo apart
14yo
3 in 1 (diphtheria, tetanus, polio)
Men ACWY
Vaccination schedule
6in1 - 2mo, 3mo, 4mo
4in1 - 3yr4mo
3in1 - 14yo
Oral rotavirus - 2mo, 3mo
menB - 2mo, 4mo, 12mo
PCV - 3mo, 12mo
Hib/menC - 12/13mo
MMR - 12mo, 3y4mo
HPV - 12-13yo
menACWY - 14yo
NICE Febrile Child Traffic Light Red Flags
- pale, mottled, ashen, blue
- no response to social cues
- appears ill to healthcare professional
- unarousable
- weak, high-pitched, continuous cry
- grunting
- RR>60
- moderate / severe chest indrawing
- reduced skin turgor
- <3mo T>38
- non-blanching rash
- bulging fontanelle
- neck stiffness
- status epilepticus
- focal neurological signs
- focal seizures
Fever causes
Meningitis
Encephalitis
Pneumonia
UTI
Septic arthritis
GE
Kawasaki
Fever Ix
- hydration status, obs, travel abroad
- Sepsis bloods, urine dip + culture, CXR, NPA, stool culture
- LP - if <1mo, 1-3mo + unwell, >3mo with red flag sx
Fever Mx
- A-E
- Abx (if <1mo, or 1-3mo unwell) - cefotaxime, ceftriaxone (add amoxicillin for listeria if <3mo)
- fluid bolus - 10-20ml/kg
Infectious mononucleosis (IM)
EBV infection
2-3wk acute illness, chronic fatigue, saliva spread
IM Px
fever, sore throat, fatigue, lymphadenopathy, enlarged tonsils
splenomegaly (rupture risk)
itchy rash after amoxicillin
IM Ix
- Heterophile ABs - not specific to EBV Ags
- Monospot test - ABs react with RBCs from horses
- Paul-Bunnell test - RBCs from sheep
….
Specific AB tests - IgM/IgG
IM Mx
Self limiting
Avoid alcohol
Avoid contact sports
Mumps
Viral infection, spread by resp droplets
14-25d incubation, lasts 1wk
MMR 80% protection
Mumps Px
Flu prodrome
Parotid swelling - uni/bilateral
Earache, pain on eating
fever, myalgia, lethargy, reduced appetite, headache
Cx sx
abdo pain - pancreatitis
testicular pain/swelling - orchitis
confusion, neck stiffness, headache - meningoencephalitis
sensorineural hearing loss
Mumps Mx
Saliva PCR
Test blood / saliva for ABs
PHE notifiable
Supportive - rest, fluids
Meningitis
infection of meninges
Orgs by age group
<3mo - GBS, E coli, listeria
1mo-6yo - N meningitidis, S pneumoniae, H influenzae
>6yo - N meningiditis, S pneumoniae
Meningococcal septicaemia - bacterial infection in bloodstream
Meningitis Px
Fever, neck stiffness, headache, photophobia, reduced GCS, seizures, non-blanching rash, Kernig’s/Brudzinski’s
Hypotonia, poor feeding, lethargy, hypothermia, bulging fontanelle
Meningitis Ix
sepsis bloods, meningococcal PCR
LP
- <1mo + fever, 1-3mo unwell + fever, >1yo unexplained fever
- bacteria - high protein, low glucose, high neutrophils
- viral - normal protein, normal glucose, raised lymphocytes
- CI with raised ICP - eg focal neurology, papilloedema, bulging fontanelles, DIC
Meningitis Mx
Community / non-blanching rash - IM benzylpenicillin
Abx
- <3mo - cefotaxime + amoxicillin
- >3mo - ceftriaxone or cefotaxime
Dexamethasone >3mo - reduce hearing loss
Acyclovir - if viral
Ciprofloxacin - single dose for close contacts- PH notification
Encephalitis
infection of brain
Tends to be viral - HSV, VZV, EBV
Encephalitis Px
altered consciousness
focal neuro sx
focal seizures
fever
Encephalitis Ix
LP (not if GCS<9, BP low, active seizures)
CT / MRI
EEG maybe
Swabs
HIV test
Encephalitis Mx
acyclovir
Chickenpox
primary VZV infection
resp spread / shingles
contagious for 4d before -> 5d after rash / pustules crust over
10-21d incubation
Chickenpox Px
1-2d prodrome
pruritic rash 6d - macular -> papular -> vesicular - on scalp, trunk, face, extremities
fever, malaise, headache
Chickenpox Ix
Clinical dx
Tzanck smear - shows multinucleated giant epithelial cells
PCR
Chickenpox Mx
Supportive, trim nails
Calamine lotion - for itch
VZV Ig - for immunocompromised / newborns with peripartum exposure
IV acyclovir if needed
be aware secondary bacterial infection
Impetigo
Superficial bacterial skin infection
S aureus, S pyogenes
may be bullous - fluid filled lesions
direct contact spread, 4-10d incubation
No school until all lesions healed / 48hrs after abx
Impetigo Px
Usually where not covered by clothing - face, neck, hands, flexures
erythematous -> macule -> vesicular/pustular -> rupture causes honey-crusted lesions
Impetigo Ix
Clinical dx
Swab exudate for MC+S
Impetigo Mx
hydrogen peroxide 1st line
fusidic acid topical abx
oral flucloxacillin if bullous / extensive
Hand, foot and mouth (HFM) disease
viral infection
Coxsackie A16 commonly
V contagious
HFM Px
Sore throat
fever
oral ulcers
vesicles on palms /soles of feet
HFM Mx
Hydrate, analgesia
Keep off school until feeling better
Measles
RNA virus, spread by aerosol
infective from prodrome until 4d after rash starts
10-14d incubation
Measles Px
- Prodrome - irritable, conjunctivitis, fever
- Koplik spots - white spots on buccal mucosa
- Rash - behind ears -> whole body, maculopapular, blotchy/confluent, desquamation of palms/soles
- diarrhoea
Measles Ix
serum IgM ABs
Measles Mx
Notifiable
Sx relief
Vaccine for unvaccinated contacts
Measles Cx
Otitis media
pneumonia
encephalitis
…
Rubella
Viral infection, german measles
Droplet spread / direct contact
Rubella Px
- rash - face/neck -> body, pink, maculopapular, itchy, 3-5d
- lymphadenopathy
- arthritis
- fever, headache, malaise, nausea, URTI, conjunctivitis
Rubella Ix
Lab ix to confirm….
Rubella Mx
- Notifiable
- rest, sx control, off school for >5d after rash starts
Diphtheria
G+ bacteria, vaccine to prevent
releases exotoxin
Diphtheria Px
- visit to high risk country
- sore throat + diphtheric membrane - grey
- cervical lymphadenopathy - bull neck
- systemic spread
- diaphragm paralysis
Diphtheria Ix
Throat swab culture
Diphtheria Mx
IM penicillin
Diphtheria antitoxin
Scarlet fever
Reaction to GAS toxins (often S pygenes)
spread by resp droplets
risk of invasive GAS (iGAS) - extremes of age, immunocompromised, IVDU…
Scarlet fever Px
- 2-4d incubation, infectious for 2-3wks w/o tx
- fever (24-48hrs), malaise, headache, N+V
- sore throat
- strawberry tongue
- sandpaper rash - fine, punctate erythema - torso -> everywhere - spares palms, soles - then desquames
- cervical lymphadenopathy
Scarlet fever Ix
Throat swabs / blood test - not routine
Scarlet fever Mx
Pen V 10d (azithromycin if allergy)
Off school for 24hrs after starting abx
Notifiable
Scarlet fever Cx
Otitis media
Rheumatic fever
Glomerulonephritis
iGAS
Slapped cheek syndrome
Aka erythema infectiosum / fifth disease
Parvovirus B19
resp spread
Slapped cheek Px
- asym
- prodrome - fever, malaise, headache, myalgia
- diffuse rash develops
- arthralgia
Slapped cheek Ix
If immunocompromsed - bloods to confirm Dx
Slapped cheek Mx
Rash can come + go
Sx relief
not infectious after 1d rash
risk of fetal death <20wks gestation
Staphylococcal scalded skin syndrome (SSSS)
type of S aureus produces epidermolytic toxins - causes separation of epidermal skin
SSSS Px
- erythema patches
- bullae - blisters
- rubbing skin causes peeling
- fever, irritable, lethargy, malaise
SSSS Mx
- admit
- IV abx
- fluids
- analgesia
Polio
poliovirus, faeces / resp spread
Vaccine to prevent
Px
- sore throat, fever, fatigue, nausea, headache, abdo pain
- sx 2-5d
- poliomyelitis - paralysis
Candida
fungal infection
Px
- oral thrush
- candida oesophagitis
- systemic - fever, sepsis, rash, pain, headache, neuro sx
Ix
- KOH smear test
- blood / tissue culture
- endoscopy
- Blood Ag detection - candida
Mx
- topical clotrimazole
- fluconazole - topical / vaginal
- systemic - IV caspofungin
Toxic shock syndrome
severe systemic reaction to exotoxins
S aureus, strep pyogenes
Px
- fever >39
- hypotension
- diffuse erythematous maculopapular rash
- >3 organ systems involved
- desquamation after 1-2wks of palms, soles
Mx
- remove infection focus (eg tampon, surgical debridement)
- IV fluids
- IV abx
- IV Ig maybe
Molluscum contagiosum
virus, skin infection
direct contact spread
resolve alone
Px
- small, flesh coloured papules, central dimple
- appear in crops
Mx
- dont share towels
- if bacterial superinfection - abc, topical fusidic acid / oral fluclox
- specialist tx - topical KOH, benzoyl peroxide, surgical removal
Head lice
Pediculus capitis
direct head-to-head contact
Dx
seen on fine tooth combing of hair
Mx
- malathion, wet combing, dimeticone……
Hearing loss
Causes
- congenital - rubella, CMV, genetic, Down’s
- perinatal - prem, hypoxia
- post-natal - jaundice, meningoencephalitis, OM, chemo
Px
Not hearing
Ix
OAE at birth
Response to sound
Audiometry if older
Mx
MDT - hearing aids, SALT, …
Cleft lip + palate
Cleft lip - split section of upper lip
Cleft palate - defect in hard/soft palate at roof of mouth
Cx
problems feeding, swallowing, speech…
Mx
Refer to cleft lip + palate services
Teats to eat/drink
Surgery
- cleft lip 3mo
- cleft palate 6-12mo
Tongue tie
baby born with short frenulum - cannot latch onto breast
Px
poor feeding - noticed by mum / midwife
Mx
frenotomy
Cystic hygroma
Cyst filled with lymphatic fluid
Px
Posterior triangle of left neck (pos. SCM)
large, soft, painless
transilluminates
hypoechoic
Mx
w+w
aspiration
surgery
Thyroglossal cyst
persistence of thyroglossal duct (where thyroid travelled down in development) - fluid filled
Px
midline neck, below hyoid
painless, soft
moves with tongue
painful if infected
anechoic
Ix
USS / CT
Mx
surgical removal
Branchial cyst
malformation of 2nd branchial cleft
Px
Anterior triangle (ant SCM)
non-tender, smooth, round
no movt on swallowing
no transillumination
Ix
US, aspiration
Mx
Conservative
Surgery if recurrent infections
Dermoid cyst
teratoma of cystic nature
Px
midline of neck, above hyoid
Ix
heterogenous on imaging
Infantile hemangioma
Either triangle of neck
grow rapidly.
XR - mass lesion, fat…..
Periorbital cellulitis
infection of soft tissues anterior to orbital septum - eyelids, skin, subcut tissue
Orbit / septum not affected
From breaks in skin, sinusitis, RTIs - S aureus, Staph epidermis, Strep, anaerobic bacteria
Periorbital cellulitis Px
Red, swollen, painful eye, acute onset
fever
erythema of eyelid / skin
ptosis
normal eye movt, vision, reflexes
Periorbital cellulitis Ix
Bloods - raised CRP
Swab discharge
Contrast CT - to see if peri/orbital
Periorbital cellulitis Mx
Refer to ophthal
Drain abscesses
Oral co-amox
Orbital cellulitis
infection of fat / muscles posterior to orbital septum, within orbit, not involving globe
after URTI of sinuses
Orbital cellulitis Px
As periorbital +
visual disturbance
absent light reflex
proptosis
ophthalmoplegia
drowsy
Orbital cellulitis Ix
Orbital cellulitis Ix
Orbital cellulitis Mx
Admit
IV abx
Squint
misalignment of eyes, aka strabismus
Pt experiences double vision
lazy eye -> becomes passive, reduced function -> amblyopia
Concomitant squint - imbalance in extra-ocular muscles, convergent more common than divergent
Paralytic squint - paralysis in extra-ocular muscles (rare)
Esotropia - inward squint (affected eye in)
Exotropia - outward squint (affected eye out)
Hypertropia - upward moving affected eye
Hypotropia - downward moving affected eye
Manifest strabismus - there all the time
Latent strabismus - appears when each eye covered
Squint causes
Idiopathic
Refractive error
Hydrocephalus
CP
SOL - retinoblastoma
Trauma
Squint examination
Eye movts, fundoscopy, acuity
Hirschberg’s test / corneal light reflection test
- shine pen torch at pt 1m away, look for symmetrical + central reflection of light source - normal
Cover test
- cover one eye, ask pt to focus on object in front, move cover to opposite eye - if first eye moves inwards, it was exotropia when covered, if it moves outwards, it was esotropia when covered
Squint Mx
Start tx <8yo
Occlusive patch
Atropine drops - blur vision in good eye
Glasses
Retinoblastoma
ocular malignancy, autosomal dominant
Avg age 18mo at dc
Px
absent red-reflex - white pupil
strabismus
visual problems
Mx
enucleation - remove whole eye
external beam radiation therapy, chemo, photocoagulation
UTIs
infections in urethra, bladder, ureters, kidneys
pyelo -> scarring, reduction in function
<3mo M>F, >3mo F>M
Causes
E coli, proteus, pseudomonas
Atypical UTIs
Seriously ill
Poor urine flow
Abdo / bladder mass
Raised creatinine
Septicaemia
Failure to respond to abx in 48hrs
Non-E coli organisms
Recurrent UTI
- 2+ episodes of UTI with pyelonephritis
- 1 episode pyelonephritis + lower UTI
- 3+ episodes lower UTI
UTI Px
Fever
Babies - lethargy, irritable, vomiting, poor feed, urinary frequency
Older children - suprapubic pain, vomiting, dysuria, urinary frequency, incontinence, new bedwetting
Dark cloudy smelly urine, haematuria, abdo pain, shivers
UTI Ix
Septic screen - if unwell
Urine dipstick (clean catch)
- N + L = UTI
- N = UTI
- L = maybe UTI, tx if sx
- neither = no UTI
MC+S if either present
Renal USS - look at anatomy
For <6mo with UTI, recurrent / atypical
DMSA scan - dimercaptosuccinic acid
After 4-6mo to assess for scarring
MCUG - micturating cystourethrogram
Look for VUR
UTI Mx
Pyelonephritis
<3mo - IV abx
>3mo - oral cefalexin, co-amoxiclav - cefuroxime / ceftriaxone / gentamicin if needed
Lower UTI
<3mo - IV cefuroxime
>3mo - trimethoprim / nitrofurantoin, amoxicillin / cefalexin second line
Vesico-ureteric reflux (VUR)
abnormal backflow of urine from bladder into ureter / kidney
Malfunction of VUJ
Px
Recurrent UTIs
Hydronephrosis on USS antenatal
Reflux nephropathy - chronic pyelo, scarring
Ix
MCUG
DMSA
Mx
Surgery
Nephrotic syndrome
Podocyte damage - GBM permeable to proteins
2-5yo
Triad - low albumin <25g/L, >3+ protein on dipstick, oedema
Steroid sensitive / resistant
Also - high cholesterol, increased BP, hypercoagulable, infections
Nephrotic syndrome causes
Minimal change disease
Most commonly
No underlying condition, no abnormality on biopsy
intrinsic kidney disease
FSGS
MPG
Systemic illness
HSP, DM, HIV, hepatitis, malaria
Nephrotic syndrome Px
Frothy urine
generalised oedema - face - gravitational
pallor
Nephrotic syndrome Ix
- Urine dip - 3+ protein
- Urine protein:creatinine ratio
- Serum albumin <20-25
- U/E, bone profile, FBC, VZV immunity
- BP
- assess CV status - fluid overload, hypovolaemia
Nephrotic syndrome Mx
- Prednisolone - 4ks high dose, 8wks weaning, 80% respond
- No added salt diet
- Furosemide + spironolactone - for oedema
- severe - albumin infusion
- Pen V abx prophylaxis
- Pneumococcal vaccine
- ACEi for HTN
- Immunosuppressants if steroid resistant
Nephrotic syndrome Cx
Hypovolaemia
Thrombosis - loss of factors that prevent clotting
Infection - loss of Igs
Renal failure
RAAS activated
High cholesterol - liver in overdrive
Relapse
Haemolytic uraemic syndrome (HUS)
Thrombosis in small vessels
Triggered by shiga toxin - E coli -157, shigella
Triad of:
- microangiopathic haemolytic anaemia - RBCs churned by clots
- AKI - retain urea
- thrombocytopenia - low platelets
HUS Px
GE, then HUS sx ~5d later
Fever
Reduced UO
Haematuria, dark-brown urine
Abdo pain
Lethargy, irritability
Confusion
Oedema
HTN
Bruising
Jaundice (from haemolysis)
HUS Ix
FBC - anaemia, negative Coombs
Blood film - schistocytes, helmet cells
U/E - AKI
Stool culture - look for shigella, PCR for toxins
HUS Mx
Self-limiting
Renal dialysis
anti-HTN, fluids, blood if needed
Eculizumab maybe
Enuresis
Involuntary urination
Nocturnal enuresis - bedwetting at night, normally controlled by 7(?)yo
Diurnal enuresis - wetting during day, normally controlled by 2yo
Primary nocturnal enuresis
child has never been dry at night
Causes
- normal development
- overactive bladder
- fluids before bed
- stress, pressure at home
- chronic constipation, UTI, LD, CP
Ix
- diary of toileting, fluid intake, bed wetting
Mx
- +ve reinforcement
- Enuresis alarms
- desmopressin (ADH analogue)
- oxybutynin - anticholinergic
- imipramine - TCA, relaxes bladder
Secondary nocturnal enuresis
Child wets bed after being dry for >6mo - ?illness
Causes
UTI, constipation, T1DM, new psychological stress, maltreatment / abuse
Mx
Tx cause
Diurnal enuresis
Urinary incontinence during day, F>M
Stress / urge incontinence
Recurrent UTIs, psychosocial issues, constipation
Wilm’s tumour
Nephroblastoma - common childhood malignancy, typically <5yo
Px
- Abdo mass
- painless haematuria
- flank pain
- anorexia, fever, wt loss
- HTN, lethargy
- 95% unilateral
- mets in 20% (commonly lung)
Ix
- USS, CT, MRI, biopsy
Mx
- nephrectomy
- chemo
- radiotherapy
Hypospadias
congenital penis abnormality
- ventral urethral meatus
- hooded prepuce (foreskin)
- chordee (ventral curvature of penis)
associated with cryptorchidism
Px
see on newborn baby check
abnormal urine stream
Mx
surgery at 1yo
do not circumcise child - foreskin used in correction
Phimosis
Non-retractile foreskin
<2yo normal - physiological phimosis
Normally can retract by 10yo
Pathological phimosis - from recurrent foreskin infection
Px
Ballooning during micturition
painful erections
haematuria
recurrent UTIs
swelling, red, tender
Ix
Can take swab
Mx
Reassure, clean
Topical steroids
Surgery - divide frenulum / circumcision
Paraphimosis
Foreskin retracted, unable to be replaced
RFs
Tight foreskin, scarring, vigorous sexual activity, piercing, catheter insertion
Px
oedema, pain on erection, irritable, eventually necrotic
Mx
gentle compression with saline-soaked swab
Manual reduction
Ice, squeezing, 50% dextrose
Refer to urology
Balanitis xerotica obliterans (BXO)
Lichen sclerosis of male genitalia - chronic inflammation + scarring
Px
ballooning during micturition
scarring
irritation
dysuria
white, fibrotic, scarred preputial tip
Mx
circumcision
send foreskin to histopathology to confirm dx
Cryptorchidism
Undescended testes
5% babies at birth, 25% cases bilateral
RFs
Prem, low birth weight, hypospadias, FHx, maternal smoking in pregnancy
Correct to reduce infertility risk, avoid testicular torsion
Px
no testis on palpation of scrotum
Testes in inguinal canal or elsewhere
DDx
hormonal - AIS, disorders of sex development
retractile testes
Mx
- w+w - most descend by 3-6mo - review at 6-8wks, then again at 3mo - see surgeon before 6mo
- try to move down if in inguinal canal
- orchidopexy - surgical correction, 6-12mo
- if bilateral undescended - senior paeds review in 24hrs
Torsion of appendix of testis
Hydatid of Morgagni
Mimics testicular torsion
Pain not as severe
Blue dot sign
NSAIDs to tx
Febrile convulsions
- Seizure + high fever - 6mo-5yo
- simple - generalised tonic clonic <15mins
- complex - partial / focal, >15mins
Ix
- exclude DDx - epilepsy, meningoencephalitis, SOL, syncope, electrolyte abnormalities, trauma
- find infection source - chest, GI, UTI, ears, throat
Mx
- paracetamol / ibuprofen
- tx infection source
Cerebral palsy (CP)
disorder of movt + posture due to non-progressive lesion of motor pathways
permanent neurological sx resulting from damage to brain around time of birth
sx manifest during growth + development
CP causes
Antenatal
- Maternal infections, eg rubella, toxoplasmosis, CMV
- Trauma during pregnancy
Perinatal
- Birth asphyxia
- Pre-term birth
Postnatal
- Meningitis
- Severe neonatal jaundice
- Head injury
CP Types
Spastic / pyramidal
- Damage to UMN, hypertonia, reduced function
- Patterns - monoplegia (one limb), hemiplegia (one side), diplegia (4 limbs, mostly legs), quadriplegia (4 limbs severely affected + seizures, speech disturbance etc)
Dyskinetic / athetoid / extrapyramidal
- Problems controlling movt …muscle tone - hypertonia + hypotonia
- Athetoid movts (slow, involuntary writhing), oro-motor problems
- Damage to basal ganglia + substantia nigra
Ataxic
- Damage to cerebellum - problems with coordinated movt
Mixed
- Mix of all
CP Px
- milestone failure
- abnormal tone
- hand preference <18mo
- problems with coordination, speech, walking, feeding, swallowing
- LDs
- tiptoeing gait
- scissoring gait
- Epilepsy, squint, hearing impairment
CP Ix
- neuro exam
- CT / MRI
- EEG, EMG, bloods
CP Mx
- MDT - OT/PT, SALT, dieticians, orthopaedics (lengthen tendons, release contractures)
- meds - oral diazepam, baclofen, AEDs, glycopyrronium, botox
Breath holding spells
Involuntary episodes of holding breath, outgrow by 4-5yo
cyanotic breath holding spells
- upset, worked up, crying, stop breathing, LOC 1min, then breathe
Reflex anoxic seizures
- startled - vagus -> drop HR
- LOC, seizure like
- 30s, regain consciousness
- exclude DDx, reassure
Childhood epilepsy
Transient episodes of abnormal electrical activity in the brain
Ix
- EEG, bloods, MRI brain, ECG, genetic / AB testing if needed
Generalised tonic clonic
- LOC, tonic + clonic
- tongue biting, incontinence, groaning, irregular breathing
- post-ictal
Mx
- sodium valproate - boys
- lamotrigine / levetiracetam - girls / 2nd line for boys
Focal seizures
- tend to start in temporal lobes
- hearing, speech, memory, emotions affected
Px
- hallucinations, memory flashbacks, deja vu, autopilot
Mx
- 1st - lamotrigine / levetiracetam
- 2nd - carbamazepine
Absence seizures
- stare into space, blank, unresponsive 10-20s
Ix
- EEG - bl synchronous/symmetrical 3Hz spike + wave discharges
Mx
- ethosuximide
- sodium valproate (2nd line for boys)
- lamotrigine / levetiracetam (3rd line)
If absence seizures + other types
- valproate - 1st line boys
- lamotrigine / levetiracetam - 1st line girls
- then other 1st line drugs not tried
- then ethosuximide add on
Atonic seizures
- drop attacks - lapse in muscle tone
- may indicate Lennox-Gestaut syndrome
Mx
- valproate - 1st line M
- lamotrigine - 1st line F, 2nd line M
- clobazam - 2nd line F
Myoclonic seizures
- sudden brief muscle contractions, pt awake
- may indicate juvenile myoclonic epilepsy - within 1-2hrs waking - clumsy mornings
Mx
- valproate - 1st M
- Levetiracetam - 1st F, 2nd M
- clobazam…..2nd F
Infantile spasms
- West syndrome
- often associated with tuberous sclerosis - serious
Px
- salaam attack - flexion of head, trunk, arms, extension of arms
- lasts 1-2s, repeated <50x
- developmental delay
Ix
- sleep EEG - hypsarrhythmia
- CT head
mx
- vigabatrin
- pred if not TS
Benign Rolandic epilepsy
- 4-12yo
Px
- seizures at night
- facial paraesthesia, can develop into secondary tonic clonic
Ix
- EEG - centro-temporal spikes
Mx
- lamotrigine / levetiracetam if needed
- good prognosis
Lennox-Gastaut syndrome (LGS)
- an epileptic encephalopathy, onset 3-5yo
- different seizure types, intellectual delay, behavioural problems
Mx
- valproate - for all
- lamotrigine 2nd line
Dravet syndrome
- frequent myoclonic + myoclonic-atonic seizures
Mx
- levetiracetam / sodium valproate
- ketogenic diet
AEDs
- Sodium valproate - teratogenic - only for use in boys, girls <10 who are unlikely to need tx when older, women who cannot have children
- Carbamazepine - agranulocytosis
- Phenytoin - folate / vit D deficiency
- Ethosuximide - night terrors
- Lamotrigine - Stevens-Johnson syndrome
Tension headache
Triggers
- stress, skipping meals, dehydration, infection
Px
- last 30mins - 7d
- symmetrical ache, like band around head
- no visual changes
Mx
- analgesia, hydrate, avoid stress / triggers
Migraines
- most common headache in children
Px
- 4-72hr attack
- unilateral, pain, throbbing, aura, photophobia, phonophobia, N+V
Mx
- paracetamol / ibuprofen
- sumatriptan >12yo
- domperidone antiemetic
- prophylaxis - propranolol (avoid asthmatics), pizotifen (drowsiness), topiramate (teratogenic), valproate
Cluster headaches
uncommon in children
as for adults
Hydrocephalus
Build up of CSF in brain / spinal cord
From overproduction / reduced absorption / drainage
Hydrocephalus congenital causes
- cerebral aqueduct stenosis - narrow, doesn’t drain
- arachnoid cysts - block CSF outflow
- Arnold-Chiari malformation
- chromosomal / congenital malformations
Hydrocephalus Px
- increased head circumference
- bulging anterior fontanelle
- poor feeding, vomiting
- poor tone
- sleepiness
Hydrocephalus Mx
VP shunt
Brain tumours
- tend to be primary in paeds
- pilocytic astrocytoma, medulloblastoma, ependymoma
Px
- headache, worse lying down
- vomiting
- papilloedema
- squint, nystagmus, ataxia
- personality change
Ix
- CT / MRI
Mx
- surgical resection
- VP shunt
- Chemo (many drugs don’t cross BBB)
- radio
Neuroblastoma
Tumour of neural crest tissue of adrenal medulla and sympathetic NS
Px
- abdo mass
- pallor, wt loss, bone pain, hepatomegaly
- paraplegia
- proptosis
- lung mets - resp sx
DDx
- hepatoblastoma, Wilms, lymphoma/leukaemia, sarcoma, PKD
Ix
- raised urinary VMA + HVA levels
- AXR (calcification), CT, biopsy
Mx
- surgery
- chemo / radio
Craniosynostosis
- skull sutures close early - abnormal head shapes, restricts brain growth - leads to raised ICP
Px
- abnormal head shape, small
- anterior fontanelle closed by 1yo
Ix
- Skull XR, CT head
Mx
- mild - monitor
- severe - surgical recon
Plagiocephaly and brachycephaly
plagio - flattening of one area of head
Brachy - flattening at back of head
Mx
- reassure
- place on other side
Duchenne muscular dystrophy (DMD)
- x-linked recessive - dystrophin genes affected - weakening + wasting of muscles
Px
- progressive proximal muscle weakness from 3-5yo
- calf pseudohypertrophy
- gower’s sign - use arms to stand from seated
- intellectual impairment
Ix
- CK raised
- genetic testing - definitive (replaced muscle biopsy)
Mx
- supportive
- OT/PT
- wheelchairs / braces
- ?oral steroids
Spinal muscular atrophy (SMA)
- autosomal recessive - progressive loss of motor neurons - muscular weakness
- LMNs in spinal cord affected -> LMN signs
Mx
- MDT
- OT/PT
- splints, braces, wheelchair
- resp support, PEG….
Down’s syndrome
3 copies of c21 - trisomy 21
Down’s screening
Offer to all women - to indicate if further invasive tests needed
Combined test
11-14wks - first line
- Combine USS / maternal blood tests
- high nuchal translucency, high bhCG, low PAPPA
Triple test
- 14-20wks - only maternal bloods
- high bhCG, low AFP, low oestriol
Quadruple test
- as above + high inhibin A
Down’s antenatal testing
Chorionic villus sampling (CVS)
- US-guided biopsy of placental tissue, <15wks - karyotype fetal cells
Amniocentesis
- US-guided aspiration of amniotic fluid - later in pregnancy - karyotype fetal cells
Non-invasive pre-natal testing (NIPT)
- blood test from mother - not definitive
Down’s Px
- Face - upslanting palpebral fissures (gaps between lower and upper eyelid), epicanthic folds (folds of skin covering medial portion of eye and eyelid), Brushfield spots in iris, protruding tongue, small low-set eats, round / flat face
- Flat occiput - brachycephaly
- Single palmar crease, pronounced ‘sandal gap’ between big and next toe
- Hypotonia
- Congenital heart defects (40-50%)
- Duodenal atresia
- Hirschsprung’s disease
Down’s Ix
- TFTs every 2yrs
- ECHO
- regular audiometry
- regular eye checks
Down’s Mx
- MDT
- eg SALT, OT/PT, dietician, paediatrician, GP…..
Down’s Cx
- Cardiac - 1/3 - ASD, VSD, TOF, PDA
- subfertility
- LDs
- Myopia, strabismus, cataracts
- repeated resp infections
- hearing impairment from recurrent OM
- ALL
- hypothyroid, Alzheimers
- atlantoaxial instability
Patau syndrome
- trisomy 13
- microcephaly, small eyes, cleft L+P, polydactyly, scalp lesions, LD
- 90% die <1yo - neuro/heart defects
Edward’s syndrome
- trisomy 18
- micrognathia, low-set ears, rocker bottom feet, overlapping fingers, small baby, LD
- 95% do not result in live birth
- 50% do not survive past 1wk
Fragile X syndrome
- trinucleotide repeat disorder - mutation in FMR1 -> lack of cognitive development
- x-linked
- LD, macrocephaly, long face, large ears, macro-orchidism, ADHD, autism
Noonan syndrome
- male Turner’s - caused by a number of genes
- webbed neck, pectus excavatum, short stature, PS, downward sloping eyes, ptosis, widely spaced nipples
Pierre-Robin syndrome
- micrognathia, posterior tongue displacement, cleft palate
Prader-Willi syndrome
- loss of genes on arm of c15
- hypotonia, hypogonadism, obesity, dysmorphic, LD, anxiety
William’s syndrome
- deletion of genes on c7 - random (not inherited)
- short, LD, friendly + extroverted, transient neonatal hypercalcaemia, supravalvular AS, starburst eyes,
Cri du chat
- cry, feeding difficulties, LD, microcephaly, micrognathia….
Klinefelter syndrome
- male has additional X - 47XXY
Px
- taller, wide hips, gyne, weaker muscles, smaller testicles, lower libido, shy, infertile, subtle LDs
Ix
- high gonadotrophins, low testosterone
- karyotype for dx
Mx
- testosterone injections
- IVF for infertility
- breast reduction
Turner syndrome
- female with one X - 45XO
Px
- short, webbed neck, broad chest, wide nipples, cubitus valgus, underdeveloped ovaries, late / incomplete puberty, infertile, downward sloping eyes, ptosis
Mx
- GH replacement
- oestrogen + progesterone replacement
- fertility tx
Marfan syndrome
- autosomal dominant - fibrillin affected - abnormal connective tissue
Px
- tall, long neck/limbs/fingers (arachnodactyly), high arch palate, hypermobile, pectus carinatum/excavatum, downward palpable fissures, pes planus
Associations
- eye issues, joint dislocations, scoliosis, PTX, GORD, aortic aneurysm/dissection, aortic regurg
Ix
- thumb across palm
- fingers around wrist
Mx
- avoid cardiac cx - exercise, caffeine, give BB/ACEi
- physiotherapy
- yearly echo / ophthal review
Angelmann syndrome
- loss of function of gene (?deletion)
- LD, speech dev delay, ataxia, happy, laughing, abnormal sleep, epilepsy, wide mouth, widely-spaced teeth, short broad skull
T1DM
pancreas stops producing insulin
may be genetic / triggered by virus
T1DM Px
- DKA
- Polyuria, polydipsia, weight loss
- Secondary enuresis (bedwetting in previously dry child)
- Recurrent infections
- 4 Ts - toilet, thirsty, tired, thinner
T1DM Ix
Bloods
- FBC, U/E, lab glucose, blood cultures (if fever), HbA1c,
- TFTs and thyroid peroxidase antibodies (TPO) for autoimmune thyroid disease
- anti-TTG (coeliac)
- insulin ABs, anti-GAD ABs and islet cell ABs (check for destruction of pancreas)
T1DM Mx
S/C insulin
- basal/bolus
- Lantus long acting, once nightly
- actrapid short acting 30 mins before carbs
- insulin pump alternative
T1DM monitoring
- HbA1c every 3-6mo
- BMs on waking, at each meal, before bed
- Flash glucose monitoring, eg FreeStyle Libre
T1DM Cx
Lipodystrophy
Hypos
Hypers, DKA
Macrovascular / microvascular
Infections etc
DKA
high ketones, hyperglycaemia, acidosis
First px, or miss insulin dose
DKA Px
vomiting, abdo pain, reduced GCS, dehydration, pear drop breath, Kussmauls
DKA Ix
Bloods - BM, ketones, gas, FBC, U/E, lab BM, CRP, cultures, LFTs, HbA1c, TFTs, coeliac screen
DKA classification
pH 7.2-7.29 +/- bicarb <15 - mild DKA - 5% fluid deficit
pH 7.1-7.19 +/- bicarb <10 - moderate DKA - 7% fluid deficit
pH <7.1 +/- bicarb <5 - severe DKA - 10% fluid deficit
DKA Mx
A-E
Fluids
- 0.9% NaCl 20ml/kg bolus if shocked (up to 2x further 10ml/kg boluses if needed)
- not shocked, but needs fluids - 10ml/kg over 60 mins (subtract from deficit)
- Deficit (ml) - %dehydration x weight (kg) x 10 - over 48hrs
- maintenance - 100/50/20 rule - over 24hrs
- Add deficit and maintenance (x2) - for total requirement over 48hrs
Insulin
- 1-2hrs after IV fluids
- 50 units actrapid in 50ml 0.9%NaCl rate of 0.05-0.1units/kg/hr
- change to S/C once ketones <1
- continue long-acting insulin during
Monitoring
- fluid chart, BMs, ketones, obs, neuro obs
- 2x daily weights….
DKA Cx
cerebral oedema - hypertonic saline / mannitol
Adrenal insufficiency (AI)
adrenal glands do not produce enough steroid hormones - cortisol / aldosterone
AI causes
Primary - adrenal glands damaged
- TB
- Autoimmune - Addisons
Secondary - low ACTH, low cortisol
- Congenital hypoplasia of pituitary gland
- surgery, infection….
Tertiary - lack of CRH from hypothalamus
- long term steroids - suppresses axis
AI Px
Babies
- lethargy, vomiting, poor feeding, hypoglycaemia, jaundice, failure to thrive
Older children
- N+V, poor weight gain, weight loss, anorexia, abdo pain, muscle weakness/cramps, dev delay, bronze pigmentation (Addison’s)
AI Ix
- U/E - low Na, high K
- BMs - hypoglycaemia
- Primary AI - low cortisol, high ACTH, low aldosterone, high renin
- Secondary AI - low cortisol, low ACTH, normal aldosterone, normal renin
- Short synacthen test - failure of rise in cortisol in response to synacthen - primary AI
AI Mx
Hydrocortisone
Fludrocortisone
Increase dose if sick
Addisonian crisis
- acute severe px of addisons - eg triggered by infection, trauma
- Px - reduced GCS, hypotension, low BM, low Na, high K
- Mx - A-E, IV hydrocortisone, IV fluids, correct BMs
Congenital adrenal hyperplasia (CAH)
- deficiency in 21-hydroxylase enzyme -> low aldosterone, low cortisol, high testosterone
- enzyme converts progesterone -> aldosterone + cortisol - therefore lack of these
- progesterone only converted into testosterone - high
CAH Px
Severe
- ambiguous genitalia - F have virilised genitalia (large clitoris)
- low Na, high K, low BMs
- poor feeding, dehydration, vomiting, arrhythmias
Mild
- px after puberty
- F - tall for age, facial hair, absent periods, deep voice, early puberty
- M - tall, deep voice, large penis, small testicles, early puberty
- hyperpigmentation - high ACTH
CAH Ix
High serum 17-hydroxyprogesterone
….
CAH Mx
- refer to paeds endo
- hydrocortisone, fludrocortisone
- surgery for genitalia
GH deficiency
due to pathology at hypothalamus / pituitary
Causes
- congenital - mutation
- empty sella syndrome - underdeveloped / damaged pit gland
- acquired - trauma, infection….
Patho
- may have other pituitary hormone deficiencies
GH deficiency Px
- birth - micropenis, hypoglycaemia, severe jaundice
- poor growth, short, slow movt/strength dev, delayed puberty
GH deficiency Ix
- GH stimulation tests - lack of GH rise in response to meds that stimulate release (eg glucagon, insulin)
- ix for thyroid / adrenal issues
- MRI brain, genetic testing
- XR wrist / DEXA san - bone age
GH deficiency Mx
Daily S/C somatropin (GH)
monitor H+W
Hypothyroidism
underactive thyroid
congenital - not formed, doesn’t make enough, or from pit/hypo problem - screen for on newborn blood spot
acquired - autoimmune
Hypothyroidism Px
Congenital
- prolonged neonatal jaundice
- poor feeding, constipation, sleepy, reduced activity, slow growth
- short, hypotonia, puffy face, macroglossia
Acquired
- fatigue, poor growth, wt gain, poor school performance, constipation, dry skin/hair loss
Hypothyroidism Ix
TFTs - TSH, T3/4
Bloods for thyroid ABs
Thyroid USS
Heel-prick screening
Hypothyroidism Mx
Levothyroxine OD
Obesity
- use BMI centile charts
causes
poor diet, lack of exercise, low SES, GH deficiency, hypothyroid, Down’s, Cushing’s, Prader-Willi
Assessment
- explore lifestyle / stress
- urine dip, protein/glucose, check BP, measure lipids / HbA1c
Mx
- weight maintenance / reduction of rate of gain
- diet + exercise
- cognitive approach
- no orlistat
Pica
- eat non-food
Cause
- many factors
- maybe iron-deficiency anaemia
Px
- eating non-food
- watch for sx of poisoning, cx
Ix
- bloods, maybe AXR, endoscopy
Mx
- remove substances, psych review
Short stature
- <2nd centile for age/sex
Causes
- familial
- constitutional delay
- malnutrition, chronic disease, endo, Down’s, achondroplasia, low GH
Ix
- XR L wrist
- bloods
- Cushing’s ix, GH provocation tests
Mx
- reassure, tx causes
Craniopharyngioma
- pituitary gland brain tumour
Px
- bitemporal hemianopia, headache, vomit, low GH, low growth, low ACTH, diabetes insipidus (lack of ADH)
Ix
- CT / MRI
Mx
- Neurosurgery
- chemo / radio
Normal puberty
Girls
- starts 8-14yo
- earlier growth spurt
- breast buds, then pubic hair, menarche
Boys
- 9-15yo
- testicle development (>4ml), then penis, scrotum darkening, pubic hair, deeper voice
Male genitals Tanner staging
I - testicles <1.5ml, small prepubertal penis
II - testicles 1.6-6ml, scrotum skin thins, reddens, enlarges
III - testicles 6-12ml, scrotum enlarges, penis lengthens
IV - testicles 12-20ml, scrotum enlarges, darkens, penis lengthens
V - testicles >20ml, adult scrotum + penis
Female breasts Tanner staging
I - no glandular tissue, areola follows skin contours of chest (prepubertal)
II - breast bud, areola widens
III - breast elevated, extends beyond borders of areola, remains in contour
IV - increased breast size and elevation, areola and papilla form secondary mound projecting from contour of breast
V - adult size breast, areola returns to contour of surrounding breast with projecting central papilla
Pubic hair (M+F) tanner stages
I - no hair (prepubertal)
II - small amount of long, downy hair, slight pigmentation at base of penis / scrotum or on labia majora
III - hair more coarse + curly, begins to extend laterally
IV - adult-like hair, across pubis, spares medial thighs
V - hair extends to medial surface of thighs
Hypogonadism
Lack of sex hormones (oestrogen, testosterone) -> delay in puberty
Hypogonadotrophic hypogonadism
- Low FSH + LH leading to sex hormone deficiency
- due to pit/hypo pathology
- eg damage, low GH, hypothyroid, high prolactin, Kallman
Hypergonadotrophic hypogonadism
- gonads fail to respond to FSH / LH
- high FSH / LH
- gonads damaged - eg torsion, cancer, congenital (Kleinfelter’s, Turner’s)
Delayed puberty Ix/Mx
- Ix if no puberty changes by 13yo (F), 14yo (M)
- H/E, FBC, ferritin, U/E, anti-TTG, early morning FSH/LH, TFTs, IGF-1, prolactin, genetics, XR L wrist, pelvic USS, MRI brain
- Tx cause, replace sex hormones if needed
Delayed puberty causes by stature
With short stature
- Turner’s syndrome
- Prader-Willi syndrome
- Noonan’s syndrome
Normal stature
- Polycystic ovarian syndrome
- Androgen insensitivity
- Kallman’s syndrome
- Klinefelter syndrome
Precocious puberty
- dev of 2ndary sex characteristics <8yo (F), <9yo (M)
- thelarche - first breast development
- adrenarche - first pubic hair
Gonadotrophin dependent
- premature activation of HPG axis - raised FSH + LH
- idiopathic, CNS abnormalities, congenital, Turner’s, high thyroid,
Gonadotrophin independent
- due to excess sex hormones - FSH + LH low
- adrenal disorders, gonadal tumours, exogenous
McCune-Albright syndrome
Due to random, somatic mutation in GNAS gene
Px
Precocious puberty
Café-au-lait spots
Polyostotic fibrous dysplasia
Short stature
Kallman syndrome
- X-linked recessive hypogonadotropic hypogonadism -> delayed puberty
- failure of GnRH-secreting neurones to migrate to hypo -> lack of GnRH -> lack of sex hormones
Px
- delayed puberty, hypogonadism, small testis, micropenis, anosmia
Ix
- testicular volume
- bloods / hormones - sperm, GnRH stimulation test, wrist XR, DEXA scan
Mx
- HRT - tes/oes/prog
- FSH / LH replacement
- GnRH pulsatile therapy
Androgen insensitivity syndrome (AIS)
- X-linked recessive - end-organ resistance to testosterone
- genotypically male (46XY) children grow up phenotypically female
Type - depends on degree of genital masculinisation
- complete - female genitalia
- partial - ambiguous
- mild - male
Px
- “primary amenorrhoea”
- undescended testes (groin swellings)
- breast dev - testosterone converted into oestradiol
Ix
- buccal smear - chromosomal analysis
Mx
- counselling
- bl orchidectomy - risk of cancer
- oestrogen HRT
- sex assignment / genitoplasty
Haemolytic disease of the newborn
- Rh negative mother previously sensitised to Rh positive cells
- Transplacental passage of ABs
- Haemolysis of Rh positive fetal cells
Px
- Severe anaemia
- Neonatal jaundice
- Hepatosplenomegaly
Mx
- Prevent sensitisation with Rh immunoglobulin
- Intrauterine transfusion of affected fetuses
Osteogenesis imperfecta
- autosomal dominant - brittle bones - collagen affected -> osteoporosis
Px
- recurrent fractures, hypermobile, blue/grey sclera, triangle face, short, early deafness, bowed legs, scoliosis, joint/bone pain
Ix
- clinical dx, XR, genetic testing
Mx
- bisphosphonates, vit D, OT/PT, MDT
Rickets
- soft/deformed bones due to low minerals - vit D / Ca
Px
- bone pain, swollen wrists, poor growth, weak, abnormal fractures, deformities - leg bowing, knock knees, delayed teeth, kyphoscoliosis…
Ix
- Bloods - low Ca, phosp, vit D, high ALP/PTH….
- XR
Mx
- ergocalciferol (vit D) + Ca supplements
Transient synovitis
3-8yo, recent URTI, inflammation of synovial membrane
Recent viral infection
Commonest cause of hip pain in children
Transient synovitis Px
- acute / gradual
- recent viral illness
- limp, cannot weight bear
- groin / hip pain
- mild fever
Transient synovitis Mx
- analgesia
- self-limiting
- needs review to r/o ddx
High grade fever = urgent specialist assessment
Septic arthritis
- infection in joint
- most common <4yo
- S aureus, N gonorrhoea, GAS…
Septic arthritis Px
- single joint - hip, knee, ankle
- rapid onset, hot red swollen, painful
- not weight bearing
- stiff, reduced ROM
- fever, lethargy, sepsis
Septic arthritis Ix
- bloods, inc cultures
- joint aspiration, for MC+S
Kocher Criteria - distinguish septic arthritis from transient synovitis - each point raises % chance
Non-weight bearing
Temp >38.5
Raised ESR
Raised WCC
Septic arthritis Mx
IV abx - IV cefuroxime
Surgical drainage / washout
Osteomyelitis
- infection of bone / bone marrow - typically metaphysis
Px
- not weight bearing
- pain, swelling, tender
- low fever
Ix
- XR normal
- MRI, bone scan
- Bloods, inc culture
- Bone marrow aspirate / bone biopsy
Mx
- IV cefuroxime
- drainage / debridement
Perthes disease
- avascular necrosis of femoral head
- 4-12yo, M>F
- risk of early OA
Perthes Px
- slow onset
- pain in hip, groin
- limp, may be painless
- stiff, reduced ROM
- no trauma hx
Perthes Ix
- XR (may be normal)
- Bloods
- MRI / technetium bone scan
Perthes Mx
- younger / less severe - conservative, keep in position - bed rest, traction, crutches, analgesia
- physio, regular XR
- severe / not healing - surgery
Slipped upper femoral epiphysis (SUFE)
- head of femur slips along growth plate
- M>F, 8-15yo, commonly obese pt, 20% bilateral
SUFE Px
- hx of minor trauma
- pain out of proportion
- hip, groin, thigh, knee pain
- restricted ROM, esp int rotation
- painful limp
- hip externally rotated, shortened
SUFE Ix
- XR - AP + lateral (frog leg)
- Bloods
- technetium bone scan
- CT / MRI
SUFE Mx
surgery
Discoid meniscus
- thicker disc shaped meniscus - congenital
Px
- anterior / lateral knee pain
- clunk at terminal flexion - “snapping knee syndrome”
- pain, reduced ROM, effusion
- locking / clicking
Ix
- XR
- MRI - bow tie sign
Mx
- surgical - reshape meniscus
- physio
Toddler’s fracture
undisplaced, spiral fracture of distal tibia in toddlers
low-energy rotational trauma
Osgood-schlatter’s
- inflammation at tibial tuberosity at patella tendon insertion
- 10-15yo
- multiple small avulsion #’s from running / jumping at same time as growth -> lump -> tender then non-tender
Px
- gradual onset
- lump at tibial tuberosity
- pain anterior knee
- worsened by physical activity, kneeling
Mx
- reduce activity
- NSAIDs
- physio
Developmental dysplasia of the hip (DDH)
- abnormal dev -> unstable hips, prone to dislocate
Picked up on NIPE, or later when child px with hip asymmetry, reduced ROM, limp
DDH RFs
7 Fs - first born, female, fat (macrosomia), fair (caucasian), feet first (breech), fluid (oligohydramnios), FHx
Multiple pregnancy
DDH screening
- At NIPE, and 6-8wks
- look for symmetry in - hips, leg length, skin folds, hip movts
Barlow
- push knees back, dislocate posteriorly
Ortolani
- abduct hips, pressure behind legs, reduce hips anteriorly
DDH Ix
USS
XR - esp if older >4.5mo
DDH Mx
- most unstable hips spontaneously stabilise by 3-6wks
- Pavlik harness if <6mo
- surgery if harness fails
Scoliosis
- spine twists
causes
- idiopathic, congenital, CP, muscular dystrophy, degenerative
Mx
- babies tend to grow out of it
- back brace / surgery
Congenital muscular torticollis
- neck deformity - SCM tight + thick - head to one side
- r/o acquired - look for infective / neuro sx
- USS hips to r/o DDH (RF)
- passive stretching / physio to mx
Talipes
- aka club foot - inverted / plantarflexed foot
- mostly idiopathic
Mx
- ponseti method - manipulation + progressive casting
- achilles tenotomy in 85%
- boots + bars
- surgery if ponseti method not effective
Achondroplasia
- autosomal dominant - short stature
- FGFR-3 gene mutation
- abnormal cartilage, abnormal function of epiphyseal plates
Px
- short, proximal limbs short, short fingers, large head, frontal bossing, trident hands, bow legs
Associations
- obesity, otitis media, OSA
Mx
- MDT
- ?limb lengthening
- ?nothing
Benign bone tumours
Osteoma
- Benign overgrowth of bone
Osteochondroma
- cartilage capped bony projection on external surface of bone
Giant cell tumour
- tumour of multinucleated giant cells in fibrous stroma
- XR - double bubble appearance
Osteosarcoma
- most common primary malignant bone tumour, 10-20yo
- tends to be metaphyseal regions of long bones
- pagets / radio - RFs
Px
- bone pain, worse at night, bone swelling, mass
Ix
- urgent XR <48hrs - fluffy bone, poorly defined lesion, Codman triangle, sunburst appearance
- bloods - raised ALP
- CT / MRI / PET / bone scan
- bone biopsy
Mx
- surgery
- chemo
Ewing’s sarcoma
- Small round blue cell tumour
- pelvis + long bones - severe pain
- XR - onion skin appearance
Chondrosarcoma
- malignant tumour of cartilage
- axial skeleton
- more common middle aged
Juvenile idiopathic arthritis (JIA)
- autoimmune inflammation in joints -> joint pain, swelling, stiffness
Mx
- MDT
- NSAIDs
- Steroids (oligo)
- DMARDs (methotrexate, sulfasalazine…)
- TNF inhibitor - infliximab, etanercept
- ophthal review for anterior uveitis
Systemic JIA
- Still’s disease
- systemic illness
Px
- salmon pink rash
- high fever
- large lymph nodes
- wt loss, splenomegaly, pleuritis, pericarditis
- joint pain, inflammation, muscle pain
Ix
- Bloods - ANA, RF (normally -ve), raised CRP, ESR, platelets, ferritin
Cx
- macrophage activation syndrome (MAS) - massive immune system activation, inflammatory response
Polyarticular JIA
- 5+ joints, symmetrical, small / large joints
- minimal systemic sx - mild fever, anaemia, reduced growth
- RA in kids
- RF -ve
Oligoarticular JIA
- <4 joints, usually 1 - larger joints (knee/ankle)
- associated with anterior uveitis, no systemic sx
- ANA+, RF-
Enthesitis-related arthritis
- paeds version of seronegative sponyloarthropathies (AS, PsA, ReA, IBD-related)
- inflammation of joints + entheses
- HLA B27
Px
- tender entheses - eg IPJ in hand, wrist, greater trochanter, quad at ASIS, base of achilles….
- ?psoriatic plaques, nail pitting, diarrhoea, PR bleed
- uveitis - visual blurring, red eye, pain
Juvenile psoriatic arthritis
- seronegative arthritis + psoriasis
- symmetrical, small joints, or asymmetrical of large joints
- psoriatic plaques, nail pitting, onycholysis, dactylitis, enthesitis
Ehlers-Danlos syndrome (EDS)
- genetic conditions -> collagen defects -> joint hypermobility
Types
- hypermobile
- classical
- vascular
- kyphoscoliotic
EDS Px
- joint pain, hypermobile
- dislocations
- bleeding, bruising
- soft stretchy skin
- headaches, dizziness, syncope
- GORD, abdo pan, IBS
- menorrhagia, dysmenorrhoea, TMJ dysfunction, myopia, SAH, aortic regurg, mitral prolapse, dissection……
EDS Ix - Beighton score for hypermobility
To assess extent of hypermobility - one point for each side of body, max score 9
- Palms flat on floor with straight legs (score 1)
- Elbows hyperextend
- Knees hyperextend
- Thumb can bend to touch forearm
- Little finger hyperextends past 90 degrees
EDS DDx
Marfan syndrome - hypermobility, high arch palate, arachnodactyly, arm span
EDS Mx
- OT/PT
- exercise
- no cure
EDS Cx -postural orthostatic tachycardia syndrome (POTS)
- autonomic dysfunction
- no SVR increase when standing - tachycardia, hypotension, syncope
Henoch-Schonlein purpura (HSP)
- IgA vasculitis - purpuric rash on lower limbs / buttocks
- triggered by URTI / GE - commonly GAS
- IgA deposits -> leaking from vessels
HSP Px
- purpura (100%) - red/purple, palpable under skin
- arthralgia (75%) - knees/ankles - painful, swollen, reduced ROM
- abdo pain (50%) - if severe - GI bleed, intussusception, infarction
- IgA nephritis (50%) - micro/macroscopic haematuria, proteinuria (if 2+ protein - nephrotic)
HSP Dx
EULAR/PRINTO/PRES criteria for dx
Need palpable purpura (not petechiae) and at least one of:
- Diffuse abdo pain
- Arthritis / arthralgia
- IgA deposits on biopsy
- Proteinuria / haematuria
HSP Ix
- bloods - FBC, blood film, renal function, serum albumin, CRP, cultures, urine dip, urine protein:creatinine ratio, BP….
HSP Mx
- supportive
- ?steroids
- monitor urine dip + BP
Kawasaki disease
- medium vessel vasculitis - young children
Disease course
- acute phase - 1-2wks - unwell, fever, rash, lymphadenopathy
- subacute phase - 2-4 wks - desquamation, arthralgia, coronary artery aneurysm
- convalescent stage - 2-4 wks - everything settles
Kawasaki Px
fever >5d and 4/5 of:
- Bl non-exudative conjunctivitis
- Erythematous polymorphous rash
- Strawberry tongue, dry cracked lips
- Red swelling + desquamation of hands + feet
- Tender cervical lymphadenopathy, unilateral
May also have - D+V, fatigue, abdo pain, arthralgia, dysuria
Kawasaki Ix
- Bloods - FBC, LFTs, ESR
- urinalysis
- ECHO
Kawasaki Mx
- high dose aspirin - risk of Reye’s
- IVIg - risk of haemolytic anaemia
- corticosteroids in high risk pts
Kawasaki Cx
- coronary artery aneurysm - ECHO after 6-8 wks to screen
Rheumatic fever
- autoimmune condition triggered by ABs to strep bacteria
- caused by GAS - strep pyogenes (tonsillitis)
- T2 hypersensitivity - IgM/G - immune system attacks body’s cells
Rheumatic fever Px
- 2-4wks after strep infection, eg tonslilitis
- fever, joint pain, rash, SOB, chorea, nodules
- joint pain is migratory - hot, swollen, painful
- heart - peri/myo/endocarditis, tachy/brady, murmur, pericardial rub, HF
- skin - nodules, pink rash
- neuro - chorea
Rheumatic fever - Jones criteria for Dx
Dx made when evidence of strep infection plus 2 major criteria OR 1 major and 2 minor
Major (JONES)
- Joint arthritis
- Organ inflammation (eg carditis)
- Nodules
- Erythema marginatum rash
- Sydenham chorea
Minor (FEAR)
- Fever
- ECG changes (PR prolongation) w/o carditis
- Arthralgia w/o arthritis
- Raised CRP and ESR
Rheumatic fever Ix
- throat swab - culture
- Anti-streptococcal ABs (ASO) titres
- ECHO, ECG, CXR
Rheumatic fever Mx
- tx infection - pen V 10d
- NSAIDs - joint pain
- aspirin + steroids - cardio
- prophylactic abv - penicillin - for further infections
Allergic rhinitis
- IgE T1 hypersensitivity to environmental allergens -> nasal inflammation
- eg hayfever, home dust mites, atopy association
Px
- runny, blocked nose, sneezing, itchy red swollen eyes
Ix
- clinical dx on hx
- skin prick testing
Mx
- avoid trigger
- antihistamines - non-sedating (cetirizine, loratadine, fexofenadine), sedating (chlorphenamine, promethazine)
- nasal corticosteroid sprays
- nasal antihistamines
Cow’s milk protein allergy (CMPA)
- non/IgE mediated hypersensitivity to protein in cow milk
- typically <3yo, outgrow after
CMPA Px
- usually <1yo, eg when weaned from breast to formula
- bloating, wind, abdo pain, D+V
- urticaria, angioedema, cough, wheeze, sneezy, watery eyes, eczema, anaphylaxis
CMPA DDx
Lactose intolerance
Cow’s milk protein intolerance (CMPI)
no allergic sx - will grow out of it
CMPA Ix
- skin prick testing
- total IgE, specific IgE (RAST) for cows milk protein
CMPA Mx
If formula fed
- extensive hydrolysed (eHF) milk
- then amino acid formula (AAF)
If breastfed
- continue
- avoid dairy in maternal diet
- eHF when breastfeeding stops
- try progressing up milk ladder
Eczema
-chronic atopic condition - skin inflammation
Px
- itchy, erythematous rash
- face + trunk in infants
- extensor surfaces younger children
- flexor surfaces, creases of face/neck - older children
Mx
- emollients
- topical steroids
- antihistmaine if severe itch
- wet wrapping
- oral ciclosporin - severe
- flucloxacillin for infections
Eczema herpeticum
- viral skin infection from HSV / VZV
- HSV-1 commonly
Px
- widespread painful vesicular rash - punched out ulcers
- fever, lethargy, irritable, lymphadenopathy
Ix
- viral swab of vesicles
Mx
- acyclovir
Urticaria
- hives - histamine release from mast cells in skin - allergic / autoimmune
Mx
- fexofenadine
- oral steroids for flares
- if problematic - montelukast, omalizumab (IgE MAb), ciclosporin
Nappy rash
- usually contact (irritant) dermatitis (urine / faeces contact) - can lead to bacterial / candida infection
Types
- irritant - creases spared
- candida - flexures, macules, scaly border, satellite lesions
- seborrhoeic - red, flakes, scalp rash -> baby shampoo / hydrocortisone
- psoriasis - red + scaly
- atopic - also affects other areas of skin
Px
- red, inflamed ski in nappy area
- check for oral thrush
Mx
- barrier cream
- mild steroid cream
- topical imidazole - candida
- topical fusidic acid / oral fluclox - bacterial
Seborrhoeic dermatitis
- inflammatory skin condition affecting sebaceous glands - Malassezia yeast
Px
- cradle cap - crusty flaky scalp
- red, flaky, crusted, itchy skin - eyelids, nasolabial folds, ears, upper chest, back
Mx
- cradle cap - baby oil, brush, wash, clotrimazole cream
- older pts - ketoconazole shampoo
- face + body - antifungal clotrimazole cream, hydrocortisone if inflammed
Ringworm
- fungal infection, tinea:
- capitis (scalp), pedis (feet), cruris (groin), corporis (body), onychomycosis (fungal nail infection)
Px
- itchy rash, red, scaly, demarcated, rings, pedis between toes
Ix
- clinical dx
- scrape + send for MC+S
Mx
- antifungals - clotrimazole cream, ketoconazole shampoo, oral fluconazole….
- steroids for inflammation
Tinea incognito
- steroids dampen immune response - once stopped fungus returns worse
Scabies
- tiny mites burrow + lay eggs under skin
Px
- itchy, small red spots, track marks
- finger webs
Mx
- permethrin cream - whole body, leave 8-12hrs, then wash off, rpt 1wk later
- malathion 2nd line
- wash bedding / clothing, tx all household members
- oral ivermectin - severe (crusted) scabies - massive infection
Roseola infantum
- aka sixth disease - HHV6
- 5-12d incubation, school exclusion not needed
Px
- high fever for a few days
- then maculopapular rash
- Nagayama spots
- diarrhoea, cough, sore throat
Ix
- clinical dx
- PCR to confirm
Mx
- self-limiting
Birthmarks
see notes
Primary immunodeficiency
genetic defects in immune system -> infection risk
Types
- AB deficiency
- combined - eg severe combined immunodeficiency (SCID)
- phagocytic cell deficiency
- complement deficiency
- immune dysregulation
- autoinflammatory
Primary immunodeficiency Px
- failure to thrive
- severe / frequent infections
- low lymphocyte count
…..
Primary immunodeficiency Ix
- FBC - low WCC
- total Ig G/A/M +/-E
- HIV aBs
Primary immunodeficiency Mx
- abx/antiviral prophylaxis
- tx infections
- Ig replacement
- bone marrow transplant
Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN)
- severe/disproportionate immune response -> epidermal necrosis
- SJS <10% body SA
- TEN >10%
Causes
- penicillin, sulfonamides, NSAIDs, lamotrigine…..infections….
Px
- fever, cough, sore throat/mouth/eyes, itchy skin, arthralgia
- rash - maculopapular, target lesions, vesicles, bullae
- affect urinary tract, lungs
Mx
- admit to derm / burns
- supportive
- steroids, Igs, immunosuppression
Erythema multiforme
- erythematous rash, from hypersensitivity reaction
- eg viral infections, meds, HSV, mycoplasma pneumonia
Px
- widespread itchy erythematous rash
- target lesions
- does not affect mucous membranes
- sore throat
- fever, arthralgia, myalgia
Ix
- clinical dx
- CXR for mycoplasma
Mx
- resolves alone
- severe - admit, IV fluids, analgesia, steroids, abx/antivirals
Erythema nodosum
- red lumps on shins - rom hypersensitivity
- caused by inflammation of subcut fat - panniculitis
Causes
- strep throat infections, GE, mycoplasma, TB, pregnancy, meds, IBD….
Px
- red, inflamed, subcut nodules across both shins - raised, tender
- may settle - bruises
Ix
- ESR, CRP
- throat swab for strep
- CXR - mycoplasma, TB, sarcoidosis, lymphoma
- stool MC+S
- faecal calprotectin - IBD
Mx
- tx cause
- rest, steroids, analgesia
- resolve in 6wks
Actions after birth
- skin-to-skin, clamp cord (after it stops pulsating), dry baby, keep baby warm, IM vit K, label baby, measure weight + height
- feed as soon as alert enough, NIPE <72hrs, blood spot tests d5, OAE test
Blood spot test conditions
Sickle cell disease
Cystic fibrosis
Congenital hypothyroidism
Phenylketonuria
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
Maple syrup urine disease (MSUD)
Isovaleric acidaemia (IVA)
Glutaric acidura type 1 (GA1)
Homocystin
Caput succedaneum
- fluid on scalp, outside periosteum, instrumental delivery
- crosses suture lines, no skin discolouration
- resolves in a few days
Cephalohaematoma
- blood between skull + periosteum
- does not cross suture lines, skin discolouration
- anaemia + jaundice risk
Facial paralysis
- damage to nerve, forceps delivery
- normally resolves in a few months
- neurosurg input if not
Erb’s palsy
- C5/6 injury in brachial plexus after birth
- associated with shoulder dystocia, traumatic/instrumental delivery
- weakness of shoulder abduction, external rotation, arm flexion, finger extension - waiters tip
- resolves in a few months, neurosurg if not
Fractured clavicle
- associated with shoulder dystocia, large birth weight…
- lack of movt, asymmetry, pain / distress
- USS / XR
- Immobilise to tx
Neonatal life support
- cut cord, dry baby, stimulate
- 5 inflation breaths (can use air)
- if no chest movt, manage airway, repeat inflation breaths
- 15 ventilation breaths (for 30s, every 2s)
- if HR <60 -> 3:1 compressions (increase O2 to 100%)
- reassess every 30s
APGAR
1, 5, 10 mins
0-3 is low, 4-6 moderately low, 7-10 is good state
- appearance / colour
- pulse
- grimace
- activity / tone
- respiration
Hypoxic-ischaemic encephalopathy (HIE)
- brain damage from hypoxia at birth -> CP, death
- eg maternal shock, intrapartum haemorrhage, prolapsed cord, nuchal cord (wrapped around neck)
Sarnat staging
Mild - poor feeding, irritable, resolves <24hrs
Moderate - poor feeding, lethargic, hypotonia, seizures, 40% develop CP
Severe - reduced consciousness, apnoeas, flaccid, <50% mortality
Mx
- optimise ventilation, feeds
- ICU therapeutic cooling
- MDT…
Respiratory distress syndrome
- prem neonates -> surfactant deficienct
- alveolar collapse -> inadequate gas exchange
- can lead to CLDP, ROP
Px
- resp distress, raised RR
- intercostal recession, grunting, cyanosis
Ix
- XR - ground glass appearance
Mx
- dex for mother
- intubation + ventilation
- endotracheal surfactant
- CPAP, O2
Transient tachypnoea of the newborn (TTN)
- delayed resorption of fluid in the lungs, common during c-sections
Px
- raised RR, resp distress
Ix
- CXR - hyperinflation of lungs, fluid in horizontal fissure
Mx
- observe, support, O2
Meconium aspiration
- aspiration of meconium -> resp distress, airway obstruction, hypoxia, infection
Dx
- meconium-stained amniotic fluids, meconium in airways
- resp distress
- pneumonia
Mx
- supportive, O2, ventilate, suction, abx, NICUNeonatal sepsis
Neonatal sepsis
- infection in neonatal period - early onset <72hrs, late onset 7-28d
Common orgs
- GBS, E coli, listeria, klebsiella, S aureus
Neonatal sepsis RFs
- vaginal GBS
- GBS sepsis in prev baby
- maternal sepsis, chorioamnionitis, fever >38
- prematurity (IgG transfer in last 3mo gestation, baby doesn’t make own ABs until a few months old)
- early ROM
- PROM
Neonatal sepsis Px
- fever / hypothermia
- reduced tone / feeding
- resp distress, apnoea
- vomiting
- tachy/bradycardia
- jaundice <24hrs
- hypoglycaemia
- neuro sx, seizures
Neonatal sepsis Ix
- cultures, FBC, CRP, gas, urine dip, MC+S
- LP
Neonatal sepsis Mx
- benpen + gent
- cefotaxime in lower risk
- repeat CRP / cultures
Neonatal jaundice
- increased bilirubin
- <24hrs - pathological - neonatal sepsis, haemolytic disease…
- > 14d in term / >21d preterm - pathological -
- from fetal Hb breakdown, immature liver
- breastfed babies more likely to be jaundiced, prem babies worse
Neonatal jaundice causes
Increased production
- haemolytic disease of newborn, ABO incompatibility, haemorrhage, cephalohaematoma, sepsis, DIC, G6PD deficiency
Decreased clearance
- prem, breastfed, neonatal cholestasis, biliary atresia, low thyroid, low pituitary, Gilbert
Neonatal jaundice Ix
- FBC, blood film
- conjugated bilirubin
- Blood type for mother + baby
- Direct antiglobulin test (DAT) - Coombs
- TFTs
- blood / urine cultures
- G6PD levels
Neonatal jaundice Mx
- plot bilirubin levels on chart
- phototherapy
- exchange transfusion
Neonatal jaundice Cx
Kernicterus
- brain damage caused by excessive unconjugated bilirubin - crosses BBB, damages CNS
Px - floppy, drowsy baby, poor feeding
Can lead to CP, LDs, deafness
Neonatal hypoglycaemia
- transient <24hrs - normal
- <2.6 defined as neonatal hypo
Causes of persistent hypo
- prem, maternal DM, IUGR, hypothermia, sepsis…
Px
- jittery baby, irritable, pallor
- poor feeding, weak cry, drowsy, low tone
- apnoea, hypothermia
Mx
- asym - encourage feeds
- sym - NICU, IV dextrose 10%
Neonatal hepatitis syndrome
- early liver inflammation
- eg CMV, rubella, hepatitis
Px
- jaundice, dark urine
- failure to thrive
- HSM
- liver cirrhosis, bruising
DDx
- biliary atresia - no splenomegaly
- neonatal jaundice - no dark urine
Ix
- bloods - inc LFTs
- USS
- biopsy
Mx
- tx cause
- vit supplements
- liver transplant
Prematurity
- born <37wks
- associated with - smoking, alcohol, maternal comorbidities….
Mx before birth
- vaginal progesterone / cerclage to discourage
- tocolysis + nifedipine
- corticosteroids <35wks
- Mg <34wks - protect brain
Apnoeas of prematurity
- immaturity of autonomic NS -> recurrent apnoeas
- desaturations, bradycardia
Mx
- apnoea monitor
- tactile stimulation
- IV caffeine
Retinopathy of prematurity (ROP)
- abnormal dev of blood vessels in retina -> scarring, retinal detachment, blindness
- excessive vascularisation from early O2 exposure, abnormal vessels, scar tissue, VEGF
- screen evert 2wks if <32wks / <1/5kg
Mx
- laser therapy
- cryotherapy
- VEGF inhibitors
Neonatal abstinence syndrome (NAS)
- withdrawal in neonate from maternal substance use - opiates, cocaine, meth, nicotine
Px
- 3-72hrs for opiates, diazepam, SSRI, alcohol
- 1-21d for methadone, other benzos
- irritable, increased tone, high cry, tremor, seizure
- yawning, sweaty, unstable temp, fever, increased RR
- poor feeding, vomiting, low BMs, loose stools
Mx
- NAS chart
- urine sample - test for substances
- morphine sulfate - for opiate withdrawal
- oral phenobarbitone - non-opiate withdrawal
Haemorrhagic disease of the newborn (HDN)
- low vit K in newborn babies -> risk of haemorrhage
- give IM vit K at birth (can give oral)
Intraventricular haemorrhage (IVH)
- <72hrs
- USS to dx
- supportive mx, shunt for raised ICP
Cystic periventricular leukomalacia
death of white matter near lateral ventricles -> CP
more common in prem babies
Fetal alcohol syndrome
microcephaly, thin upper lip, smooth philtrum, short palpebral fissure, LDs, CP, cardiac malformations
Congenital rubella syndrome
congenital cataracts, PDA, AS, LD, hearing loss (sensorineural)
Congenital varicella syndrome
IUGR, LD, scars, skin changes, limbs not developed, eye damage
Congenital CMV
IUGR, hearing / vision loss, LD, seizures
Congenital toxoplasmosis
Intracranial calcification + hydrocephalus + chorioretinitis
Congenital zika syndrome
microcephaly, IUGR, ventriculomegaly, cerebellar atrophy
TORCH
- congenital infection
- Toxoplasmosis, Other agents, Rubella, CMV, HSV
- also syphilis, zika, parvovirus B19
Px
- HSM, fever, lethargy, reduced feeding, anaemia, jaundice
Ix
- IgM, IgG
Mx
- tx infection in mother / fetus
Sudden infant death syndrome (SIDS)
- unexplained death in infant (cot death)
RFs
- prematurity, low birth weight, smoking during pregnancy, sleeping prone, bed sharing
Minimise risk
- baby on back, head uncovered, nothing by head, 16-20 degree room temp, no co-sleeping, no smoking
Support
- The lullaby trust
- Bereavement services
CONI - care of next infant
VACTERL association
- association of birth defects, tend to co-occur
Vertebral defects
Anal atresia / malformations
- no anal opening
- surgery, colostomy first, then 6mo repair
Cardiac defects
- ASD, VSD, TOF, also truncus arteriosus, TGA
Tracheoesophageal fistula
- abnormal connection between oesophagus + trachea
- Px - choking, coughing, vomiting, cyanosis with feeding
- Mx - surgery, NICU, stomach tube feed
(O)Esophageal atresia
- oesophagus not connected to stomach - unable to feed, surgery
Renal abnormalities
- defects, kidney failure
- transplant / correction
Limb abnormalities
- eg thumbs, polydactyly, syndactyly, radial aplasia….
