Paediatrics Flashcards
Childhood vaccinations at age 8 weeks / 2 months
Diphtheria/tetanus/pertussis/Haemophilus influenza type B(HiB)/ Hep B (6 in 1 vaccine)
Men B
Rotavirus (oral)
Childhood vaccinations at age 12 weeks / 3 months
Diphtheria/tetanus/pertussis/Haemophilus influenza type B/ Hep B (6 in 1 vaccine)
Pneumococcal conjugate vaccine (PCV)
Rotavirus
Childhood vaccinations at age 16 weeks / 4 months
Diphtheria/tetanus/pertussis/Haemophilus influenza type B/ Hep B (6 in 1 vaccine)
Men B
Childhood vaccinations at age 12-13 months
Hib B/Men C
PCV
MMR
Men B
Childhood vaccinations at age 3 yrs 4 months
Diphtheria, tetanus, pertussis, polio
MMR
Childhood vaccinations at age 12-13 yrs
HPV types 6,11,16,18 (both boys and girls)
Childhood vaccinations at age 14 yrs
Men ACWY
Tetanus/diphtheria/polio
Developmental milestone: sits without support
7 months (>9 months = red flag)
Developmental milestone: stands independently
12 months (>12 months = red flag)
Developmental milestone: Walks unsupported
13 - 15 months (>18 months = red flag)
Developmental milestone: Pincer grip
10 months (>12 months = red flag)
Developmental milestone: Drawing
2 1/2 yrs
Developmental milestone: 2-3 words / understands name
1 year
Developmental milestone: 6-10 words
15 - 18 months
Developmental milestone: startling at loud noise & follows face
2 months (>3 months = red flag)
Developmental milestone: smiling
6 weeks (>8 weeks = red flag)
Developmental milestone: plays near others but not with them
2 yrs
Developmental milestone: joining two words
2 yrs (>2 yrs = red flag)
Developmental milestone: stranger fear
7 months (>10 months = red flag)
Paeds BLS compression to breath ratio
15:2
First step of paeds BLS
5 rescue breaths before commencing CPR
Peads foreign body airway obstruction (FBAO)
5 back blows 5 thrusts (abdo if >1yr & chest if <1yr)
Neonatal life support Step 1
dry & stimulate baby
Neonatal life support Step 2
5x inflation breaths if still gasping/not breathing with open airway
Neonatal life support Step 3
CPR if not breathing/ HR < 60
ratio 3:1 (compression : ventilation)
APGAR score groups
0-3 = bad 4-6 = moderate 7-10 = good
Risk factors for Sudden Infant Death Syndrome (SIDS)
prone sleeping parental smoking prematurity bed sharing male sex
Protective factors for SIDS
breast feeding
supine sleeping
Most common genetic cause fo trisomy 21
meiotic non-disjunction of chromes 21 (known as full trisomy 21), has 3 full chromosome 21
Risk factors for trisomy 21
↑maternal age, previous child with down syndrome
Physical features of trisomy 21
hypotonia epicanthal folds brushfield spots on iris flat nasal bridge single palmar crease small low set ears short stature
Trisomy 21 investigations to confirm diagnosis
chromosomal karyotype
fluorescent in situ hybridisation (FISH)
Congenital heart defects associated with trisomy 21
atrioventricular septal defect (AVSD) most common
ASD, VSD, tetralogy of fallot
Screening of congenital heart defects in trisomy 21
all neonates require an echo
Congenital GI defects in trisomy 21
duodenal / oesophageal atresia
imperforate anus
How frequent is trisomy 21 related hearing loss
90% of pts have some extend of hearing loss
Hearing screen for trisomy 21
Screen hearing at birth, 6 months, 12 months and annually there after
Trisomy 21 related visual problem at birth
congenital cataracts (absent red reflex - leukocoria)
Thyroids screening for trisomy 21
annual TFTs
↑ risk of hypothyroidism
Trisomy 21 related cancer
↑ risk of acute lymphoid leukaemia & acute myeloid leukaemia
Most common trisomy 21 related sleep problem
Obstructive sleep apnoea (60% of children)
sleep study recommended age 3-4 yrs
Orthopaedics disorders associated with trisomy 21
atlanto-axial instability
scoliosis
Monitoring tests for Trisomy 21 pts
hearing screen: at birth, 6 months, 12 months and then annually
TFTs: at birth, 6 months, annually
Eye screening: at birth, 6 months, then yearly till age 5
Sleep study: age 3-4
echo: at birth
coeliac disease screen
leading cause of death in trisomy 21 pts after age 40
dementia
Trisomy 13 (patau syndrome) presentation
microcephaly
polydactyly
small eyes
midline facial defects
Trisomy 13 (patau syndrome) prognosis
very poor, usually stillborn/spontaneously aborted
if born alive usually dead in a week
which is more common Trisomy 18 (edward syndrome) vs Trisomy 13 (patau syndrome)
Trisomy 18 (edward syndrome) is 2nd most common autosomal trisomy Trisomy 13 (patau syndrome) is 3rd most common autosomal trisomy
Most common management of Trisomy 21/18/13 if detected prenatally
abortion of the foetus
Trisomy 18 (edward syndrome) presentation
low birth weight microcephaly micrognathia prominent occiput small facial features (microstomia/micropthalmia) overlapping fingers rocker bottom feet
Trisomy 18 (edward syndrome) prognosis
often stillbirth/death in labour
<10% survive to age 1 year
Fragile X inheritance pattern
X linked dominant inheritance
Fragile X presentation
intellectual disability macrocephaly long face large ears macro-orchidist hyperflexibility
Fragile X genetic cause
expansion of CGG triplet repetition on the FMR1 gene
Noonan syndrome
Autosomal dominate
Features: webbed neck, pectus excavatum, short stature, low set ears
Pierre-Robin syndrome
Features: micrognathia, posterior displaced tongue (can cause airway obstruction)
Prader-Willi syndrome
Features: hypotonia, hypogonadism, obesity, T2DM
Williams syndrome
Features: elfin face, learning difficulties, friendly/extroverted personality, Supravalvular aortic stenosis
Cri du Chat syndrome
Features: characteristic cat like cry, feeding difficulties, poor weight gain
DiGeorge syndrome
Features: CHD, abnormal facies, cleft palate, developmental delay
Turner syndrome genetic cause
complete or partial absence of second X chromosome in females, 45XO/45X
Turner syndrome features
poor growth short stature lymphoedema of hands and feet webbed neck shielded chest wide spaced nipples wide carrying angle absent pubertal development infertility
Turner syndrome associated cardiac abnormalities
bicuspid aortic valve
coarctation of the aorta
Hormone levels in turner syndrome
LH & FHS ↑ Antimullerian hormone↓
Klinefelter’s syndrome genetic cause
males with extra X chromosome (47XXY)
Klinefelter’s syndrome features
tall & slender physique wide hips small firm testes impotence ↓ facial & pubic hair gynaecomastia learning disability
Hormone levels in Klinefelter’s syndrome
↓ testosterone, LH & FHS ↑
Klinefelter’s syndrome associated cardiac abnormalities
↑ risk of mitral valve prolapse
cancer associated with Klinefelter’s syndrome
↑ risk of male breast cancer & germ cell tumours
Klinefelter’s syndrome management
testosterone replacement (as pt enter puberty) intracytoplasmic sperm injection if they are trying to conceive
Neurofibromatosis (NF) types
NF-1:
chromosome 17 gene mutation
NF-2:
chromosome 22 gene mutations
Neurofibromatosis type 1 presentation
cafe au lait spots
axillary & inguinal freckles
neurofibromas
Iris hamartomas
Neurofibromatosis type 2 presentation
bilateral acoustic neuromas/vestibular schwanomas cafe au lait spots juvenile cataracts meningiomas intracranial schwanomas (multiple)
Investigating Neurofibromatosis (NF)
MRI/CT scan
genetic testing
Differentiating Neurofibromatosis (NF) types 1 and 2
NF-1 : more common in children, usually >6 cafe au lait spots
NF-2 : more common in adults, usually <6 cafe au lait spots
Neurofibromatosis (NF) differential diagnosis
tuberous sclerosis
which is differentiated by presence of ash-leaf spots (seen under UV light), retinal hamartomas, epilepsy
Cystic fibrosis (CF) genetics
abnormalities in salt and water transport across epithelial surfaces due to mutations in CF transmembrane conductance regulator (CFTR) gene on chromes 7
most common mutation in caucasians = DF508 (delta F508)
Ethnic group is at ↑ risk of cystic fibrosis
white population
↓ incidence in africans/hispanic/asian
Pathophysiology of cystic fibrosis
impaired salt & water transport by epithelial cells leads to thick sticky excretions, which can affect the pancreas/GI tract/Bilairy tree/resp system/sweat
Presentation of cystic fibrosis in neonates
meconium ileus/delayed passage of meconium
prolonged jaundice
Presentation of cystic fibrosis in older children
recurrent chest infections/chronic pulmonary disease wet sounding cough purulent sputum wheezes nasal polyps failure to thrive steatorrhoea
Investigating cystic fibrosis
found on heelprick test (day 5-7 after birth)
Sweat test (↑ Cl- concentration >60mmol/L)
genetic testing
CXR
Lung function test (FEV1/FVC ↓)
stool elastase (for pancreatic dysfunction)
Common pathogens in cystic fibrosis pts
staph aureus H influenzas pseudomonas aeroginosa aspergillus Burkholderia cepacia
Managing respiratory problems in cystic fibrosis pts
chest physio & mucous clearance techniques
ABx
mucolytics e.g. dornase alfa
Management of pancreatic insufficiency in cystic fibrosis
confirm via stool elastase test
pancreatic enzyme therapy
Recommended diet for cystic fibrosis pts
high fat, high protein, high calorie diet
Fertility problems related to cystic fibrosis
almost all males suffer from azoospermia so should be counselled on IVF for conception
Biological treatments of cystic fibrosis
lumacaftor & Ivacaftor
to treat homozygous pts for DF508, help increase CFTR protein numbers
Presentation of meconium ileus
24-48h post birth with failure to pass meconium, abdo distension and bilious vomiting
NB seen in ~20% of CF pts
Management of meconium ileus
surgical decompression
Genetic cause of sickle cell disease
autosomal recessive gene defect of the 17th nucleotide of the beta chain leading to the substitution of valine instead of glutamic acid
screening for sickle cell disease
part of the routine heel prick test screening on day 5-7 after birth
timeline of presentation for sickle cell disease
symptomatic presentation between age 3-6 months as HbF levels fall
presentation of sickle cell disease
jaundice pallor anaemia growth restriction failure to thrive lethargy systolic flow murmur
The spleen in sickle cell disease
↑ risk of infection by encapsulated organisms e.g. pneumococcus
highest risk of overwhelming infection in <3y/o
recurrent infections lead to autosplenectomy
Vaso-occlusive crisis in sickle cell
most common type of crisis
obstruction of micro circulation by sickle cells leading to ischaemia
precipitating factors of vaso-occlusive crisis in sickle cell
cold, infection, dehydration, exertion
presentation of vaso-occlusive crisis in sickle cell
swollen joints
pain
tachypnoea
priapism
if major vessels may present as thrombotic stroke/acute sickle chest syndrome
aplastic crisis in sickle cell
temporary cessation of erythropoiesis leading to severe anaemia
trigger of aplastic crisis in sickle cell
parvovirus B19 infection
presentation of aplastic crisis in sickle cell
generally rapid drop in Hb over 1 week with spontaneous recovery
may have high output congestive HF
sequestration crisis in sickle cell
sudden enlargement of spleen leading to ↓ Hb & circulatory collapse which causes hypovolaemic shock
at risk groups for sequestration crisis in sickle cell
young children snd babies
presentation of sequestration crisis in sickle cell
↓ Hb, ↑reticulocytes, splenomegaly
management of recurrent sequestration crisis in sickle cell
splenectomy
differentiating sequestration crisis in sickle cell & aplastic crisis in sickle cell
aplastic = ↓ Hb but no ↑reticulocytes
sequestration ↓ Hb, ↑reticulocytes, splenomegaly
Acute chest crisis in sickle cell
vaso-occlusive crisis of the lungs
diagnostic criteria for Acute chest crisis in sickle cell
new pulmonary infiltrates on CXR + ≥ 1 of
- cough
- fever
- sputum production
- tachypnoea
- dyspnoea
- hypoxia
investigating sickle cell disease
FBC (↓ Hb, ↑reticulocytes) blood film (sickle cells) haemoglobin electrophoresis (to confirm diagnosis, absence of HbA, but presence of HbS)
general management of sickle cell disease
Patient & parental education
folic acid/zinc/Vit D supplementation
unconjugated pneumococcal vaccine (from age 2)
oral penicillin prophylaxis
hydroxycarbamide (,2y/o to ↓ frequency of crisis by stimulation HbF)
blood transfusion
treatment of sickle cell disease in pregnancy
prophylactic LMWH due ↑ risk of prematurity/neonatal death/low birth weight
low dose aspirin 75mg from 12 weeks
Duchenne muscular dystrophy (DMD) inheritance
X-linked recessive
Duchenne muscular dystrophy (DMD) pathophysiology
mutation leads to absence of dystrophin protein leading to muscle degeneration/necrosis with muscle being replaced by adipose tissue
Presentation of Duchenne muscular dystrophy (DMD)
delayed motor milestones calf hypertrophy waddling gait/inability to run Gower's sign (climbing up legs when standing up) heel contractures lordosis ↓ tendon reflexes ↓muscle tone
Investigating Duchenne muscular dystrophy (DMD)
Creatine kinase (↑10-100x normal levels) genetic testing muscle biopsy (check for dystrophin protein)
Normal test result excluding Duchenne muscular dystrophy (DMD)
normal creatine kinase excludes diagnosis of DMD
Managing Duchenne muscular dystrophy (DMD) early stages
Physiotherapy
knee-foot-ankle orthosis
corticosteroids e.g. prednisolone (prolongs ambulation)
Managing Duchenne muscular dystrophy (DMD) late stages
mobility aids
respite care
NIV
regular cardiology reviews (6 monthly)
Spinal muscular atrophy (SMA)
slow progressive atrophy & weakness of limb muscles due to SMN1 gene mutation, leading to lower motor neurone weakness
generally autosomal recessive
Features of Spinal muscular atrophy (SMA)
muscle weakness & wasting preserved intellect flaccid weakness hypotonia ↓ tendon reflexes fasciculation's
most common type of Spinal muscular atrophy (SMA)
SMA type II most common (chronic infantile SMA)
Investigating Spinal muscular atrophy (SMA)
creatine kinase (normal) genetic testing
Charcot-Marie-Tooth disease
heterogenous group of peripheral neuropathies which is the most common inherited neuromuscular disorder
usually autosomal dominant inheritance
Presentation of Charcot-Marie-Tooth disease
slowly progressive (CMT1 most common onset by age 10)
muscle weakness & wasting (starting in intrinsic foot muscles)
muscle weakness spreads to lower legs & thigh
sensory loss following same pattern as muscle weakness (especially ↓vibration & light touch)
generalised tendon areflexia
Necrotising enterocolitis (NEC)
ischaemic inflammatory bowel necrosis
most common GI emergency in neonates
Risk factors for necrotising enterocolitis (NEC)
prematurity
↓ birth weight
PDA
presentation of Necrotising enterocolitis (NEC)
classically in preterm infants within first 2 weeks of life abdo distension altered stool pattern bloody mucoid stool bilious vomiting ↓ bowel sounds lethargy
investigating necrotising enterocolitis (NEC)
FBC
ABG/VBG
baseline biochem
AXR (dilated bowel loops, intramural gas, Ringler sign)
AXR findings in necrotising enterocolitis (NEC)
dilated bowel loops
bowel wall oedema
intramural gas (pneumatosis intestinalis)
portal venous gas
Rigler sign
Football sign (air outlining falciform ligament)
managing necrotising enterocolitis (NEC)
Nil by mouth NG tube to decompress bowel IV fluids/parenteral nutrition IV ABx (cefotaxime +metronidazole/clindamycin) surgery
Exomphalos (omphalocele)
abdo contents herniated into umbilical cord via umbilical ring, viscera covered by a membrane
Gastroschisis
abdominal contents herniating into amniotic sac without covering membrane
usually to right side of umbilicus
Investigating gastroschisis & exomphalos
maternal AFP (↑) USS
Managing exomphalos
surgical repair fo defect, abdominal contents returned to abdomen
Managing gastroschisis
surgical repair
requires more pre-op care than exomplhalos with IV fluids, radiant heaters etc
congenital diaphragmatic hernia
incomplete fusion of diaphragm leading to herniation of abdo contents into thorax which causes pulmonary hypoplasia
common side of congenital diaphragmatic hernia
left side
liver plugs space on right
congenital diaphragmatic hernia prenatal presentation
often prenatal diagnosis (polyhydraminos & via routine USS)
congenital diaphragmatic hernia presentation
presents soon after birth cyanosis tachypnoea chest wall asymmetry absent breath sounds on affected side bowel sounds audible on chest wall
Managing congenital diaphragmatic hernia
intubate & venitalte at minimal pressures orogastric tube (to locate stomach on X-ray) surgery to fix diaphragm
Hirschsprung’s disease
congenital condition characterised by partial/complete colonic functional obstruction associated with absence of parasympathetic ganglion cells = tonically constricted lamina = functional obstruction
Disease associated with Hirschsprung’s disease
Down’s syndrome
Hirschsprung’s disease initial presentation
failure to pass meconium in first 48h of life
repeated bilious vomiting
abdo distension
explosive passage of liquid & foul smelling stools (especially post PR exam)
failure to thrive
later presentation of Hirschsprung’s disease
chronic constipation resistant to treatment
investigating Hirschsprung’s disease
AXR
contrast enema (contracted distal bowel & dilated proximal bowel)
rectal biopsy
Hirschsprung’s disease treatment
Surgery
Hirschsprung’s disease prognosis
most pts acquire normal fecal continence & normal bowel habits
Meckel’s diverticulum
true diverticulum due to failure of the vitelline duct to obliterate
most common congenital abnormality of the small bowel
Location of Meckel’s diverticulum
in distal ileum close to ileocaecal valve
Meckel’s diverticulum rule of 2’s
occurs in 2% of population
within 2 feet from ileocaecal valve
2 inches long
Meckel’s diverticulum presentation
generally asymptomatic
painless Gi bleeding = haematochezia
intractable constipation
Meckel’s diverticulum investigations
AXR (for bowel obstruction)
Meckel’s scan
CT abdo
Intussusception epidemiology
usually seen age 3-12 months
peak age 9 months
commonest part of bowel affected by Intussusception
ileocaecal region
lead point is often an enlarged lymph node (peters patch) in terminal ileum
Intussusception presentation
paroxysmal colicky abdo pain drawing knees up to chest crying early vomiting blood PR (red current jelly stools) child normal between bouts of pain
Investigating Intussusception
Abdo USS (target sign/doughnut sign)
AXR
diagnostic enema
Mangement of Intussusception
drip & suck (IV fluids & NG tube)
radiological reduction via air enema
surgical reduction
Umbilical hernia
herniation of peritoneal sac covered with skin
generally spontaneously resolves in most children
Umbilical hernia presentation
bulge at umbilicus with overlying skin
easily reducible
Umbilical hernia management
generally observed till age 4-5 yrs if small
surgical closure if large (if asymptomatic then by age 2-3 yrs)
Inguinal hernia
due to patent processus vaginalis allowing abdominal contents to herniate into inguinal canal, presenting as bulge lateral to pubic tubercle
Inguinal hernia management
urgent surgical management indicated due to ↑ risk of strangulation
pyloric stenosis
infantile hypertrophic pyloric stenosis due to hypertrophy of the pyloric sphincter narrowing the pyloric canal
risk factors for pyloric stenosis
first born
male
family history
exposure to erythromycin in first 2 weeks of life
time of presentation of pyloric stenosis
between 2-8 weeks of age
rare after 12 weeks of age
Presentation of pyloric stenosis
non bilious vomiting within 30-60 minute of feeding projectile vomit
upper abdominal mass (olive)
baby remains hungry after feed
frequency/intensity of vomiting ↑ over several days
investigating pyloric stenosis
ABG/VBG (hypochloraemic, hypokalaemic metabolic alkalosis)
Abdo USS
classic blood gas finding for pyloric stenosis
hypochloraemic, hypokalaemic metabolic alkalosis
Management of pyloric stenosis
Ramstedt’s pyloromyotomy
Biliary atresia
progressive idiopathic necroinflammatory process involving the extra hepatic biliary tree leading to fibrosis
time of presentation of biliary atresia
usually between 2-8 weeks after birth
presentation of biliary atresia
usually seen in term infant with normal birth weight persistent jaundice play stools/dark urine failure to thrive hepatosplenomegaly
Investigations for biliary atresia
total & conjugated bilirubin (↑ conjugated bilirubin)
LFTs (generally ↑, disproportionate ↑ GGT)
Liver histology (gold standard)
management biliary atresia
surgery (portoenterostomy), best outcome if surgery before 8 weeks of age ursodeoxycholic acid (to encourage bile flow)
oesophageal atresia
blind ending oesophagus presenting with frothing at mouth, feeding difficulties, chocking, respiratory distress
oesophageal atresia investigation
antenatal USS (polyhydraminos, smaller/no stomach bubble) antenatal MRI (small stomach, oesophageal pouch)
oesophageal atresia management
surgery
suctioning oesophageal pouch till surgery
Risk factors of duodenal/oesophageal atresia
related to trisomy 21/13/18
twins
NB duodenal atresia is particularly related to trisomy 21
duodenal atresia presentation
abdo distension
bilious/non-bilious vomiting
presents in first days of life
Investigations for duodenal atresia
AXR (double bubble sign)
Volvulus/midgut rotation
a spectrum of rotation & fixation disturbances of the intestines occurring during embryonic development,
volvulus is complete twisting of a loop of intestines
Presentation of volvulus
rapid onset bilious/non bilious vomiting lactataemia metabolic acidosis oligouria hypotension feeding intolerance
Volvulus/midgut rotation investigations
Volvulus = clinical diagnosis AXR (double bubble sign, air fluid levels) contrast studies (duodenojejunal junction displaced in malrotation)
Managing Volvulus/midgut rotation
surgical treatment (even of asymptomatic malrotation due to risk fo volvulus) Ladd's procedure = treatment of choice
hydrocele
collection of serous fluid between the layers of tunica vaginalis around testicles/along spermatic cord
usually disappears age 1-2 yrs
most common hydrocele in children
communicating hydrocele i.e. patent processus vaginalis allowing fluid to drain into scrotum from peritoneum
presentation of hydrocele
scrotal enlargement (non tender, smooth cystic swelling, below/anterior to testicle)
transluminates with pen torch
swelling confined to scrotum i.e. able to get above it
managing hydrocele
clinical diagnosis
usually self limiting, so observe
repair if not resolves after 2 yrs of age
cryptorchidism
unilateral/bilaterally undescended testes, i.e. not present within the dependent portion of the scrotal sac
when to refer cryptorchidism
specialist referral age 6 months (corrected) if still undescended with surgical correction in next year
presentation of cryptorchidism
testes may be palpable in upper portion of scrotum/inguinal canal or may be absent (indicates intra-abdominal location)
Management of cryptorchidism
if still undescended by age 3 months =pathological
referral to specialist before 6 months
surgical repair by 12-18 months of age
cryptorchidism complications
risk of infertility if delayed diagnosis (especially >2y/o)
↑ risk of testicular torsion
↑ of testicular cancer
Hypospadias
congenital abnormality of penis where urethral opening is somewhere along ventral aspect of penis
Hypospadias common location
90% have meatus on/near glans = distal hypospadias
Hypospadias associated condition
if associated with cryptorchidism then may suggest disorder of sexual differentiation
Posterior urethral valves
cause obstruction of urethra
most common cause if UTI in male infants
Posterior urethral valves presentation
poor, intermittent dribbling urine stream
±frequent UTIs
Posterior urethral valves complications
can cause high pressure & detrusor hypertrophy leading to vesicoureteric reflux causing hydronephrosis
Posterior urethral valves diagnostics
voiding cystourethrography (VCUG) = gold standard postnatally NB most prenatal diagnosis
Posterior urethral valves treatment
endoscopic ablation = gold standard
meconium aspiration syndrome (MAS)
respiratory distress in the newborn due to presence of meconium in the trachea usually secondary to foetal hypoxia
meconium aspiration syndrome (MAS) risk factors
post term infants (>42 weeks) fetal distress oligohydramnios chorioamnionitis NB rare in <34 weeks gestation
meconium aspiration syndrome (MAS) presentation
meconium/green stained amniotic fluid green/blueish staining of skin at birth floppy baby ↓ APGAR score rapid/laboured/absent breathing bradycardia signs of post maturity (skin peeling, long stained nails)
managing meconium aspiration syndrome (MAS)
suctioning
O2/ventilatory support
surfactant (if severe)
infant respiratory distress syndrome (IRDS)
know as surfactant deficient lung disease or hyaline membrane disease
usually seen in preterm infants due to surfactant deficiency
Risk factors for infant respiratory distress syndrome (IRDS)
prematurity
male infant
c-section delivery without maternal labour
maternal diabetes
Presentation of infant respiratory distress syndrome (IRDS)
tachypnoea nasal flaring grunting intercostal/subcostal recession cyanosis ↓ air entry on auscultation
infant respiratory distress syndrome (IRDS) investigations
ABG (↓ PaO2, ↑PaCO2, metabolic/respiratory acidosis)
CXR (air bronchograms, reticular granular pattern)
echo (to rule out congenital heart disease)
Prevention of infant respiratory distress syndrome (IRDS)
maternal corticosteroids (dexamethasone) tocolytics (to delay premature delivery by ~48h while giving steroids) e.g. nifedipine
infant respiratory distress syndrome (IRSD) management
surfactant replacement therapy (via ET tube)
O2/assisted ventilation
Transient tachypnoea of the newborn (TTN)
delayed absorption of fluid in the lungs leading to ineffective gas exchange
commonest cause of respiratory distress in newborn period
Presentation of Transient tachypnoea of the newborn (TTN)
tachypnoea (DUHH ITS in the fucking name) respiratory distress (nasal flaring/grunting/subcostal/intercostal recession, crackles)
Transient tachypnoea of the newborn (TTN) investigations
ABG (↓ PaO2, ↑PaCO2)
CXR (hyperinflation, fluid in horizontal fissure, prominent perihilar vascular markings)
Transient tachypnoea of the newborn (TTN) management
supplementary O2
usually self limiting on 1-2 days
Persistent pulmonary hypertension of the newborn (PPHN)
defined as failure of the normal circulatory transition that occurs after birth, i.e. ≥ 1 of the fetal shuts fail to close leading to persistently elevated pulmonary pressures
Risk factors for Persistent pulmonary hypertension of the newborn (PPHN)
male gender
C-section
large for gestational age babies
asthma
Persistent pulmonary hypertension of the newborn (PPHN) presentation
tachypnoea respiratory distress (nasal flaring/grunting/subcostal/intercostal recession, crackles) loud S2 right ventricular heave cyanosis
Persistent pulmonary hypertension of the newborn (PPHN) investigations
echocardiogram = definitive diagnostic test (↑ pulmonary artery pressure, tricuspid regard, altered RV size/function)
Retinopathy of prematurity (ROP)
proliferative disorder of immature retinal vasculature, due to vasculature of retina only reaching periphery at age of 1 month and being susceptible to oxidative damage
most common cause of preventable childhood visual impairment
Risk factors for Retinopathy of prematurity (ROP)
prematurity (especially , <32 weeks)
low birth weight (especially ≤1250g)
O2 therapy
respiratory distress
Management of Retinopathy of prematurity (ROP)
laser photocoagulation (treatment of choice)
screening for Retinopathy of prematurity (ROP)
all infants born <32 weeks/ <1501g get weekly/fortnightly screening
hypoxic ischaemic encephalopathy (HIE)
the neurological sequelae of perinatal asphyxia
Diagnostic criteria of hypoxic ischaemic encephalopathy (HIE)
Metabolic acidosis with pH <7
Base deficit -12
APGAR score = 5 at 10 min & continued need for resuscitation
presence of multi organ failure
evidence of encephalopathy (hypotonia, abnormal oculomotor/pupillary movements, weak/absent suck reflex, seizures)
hypoxic ischaemic encephalopathy (HIE) causes
maternal haemodynamic compromise
uterine conditions e.g. uterine rupture
placental/umbilical cord conditions e.g. abruption
infection
Management of hypoxic ischaemic encephalopathy (HIE)
therapeutic cooling (to minimise secondary brain injury), within 6 h of birth
Periventricular/intraventricular haemorrhage
haemorrhage related to perinatal stress affecting the highly vascularised subependymal germinal matrix
commonest intracranial haemorrhage in newborns
Risk factors for periventricular/intraventricular haemorrhage
prematurity lowe birth weight IRDS hypoxia sepsis
Presentation of Periventricular/intraventricular haemorrhage
diminished/absent mono reflex hypotonia lethargy apnoea poor/absent suck shrill cry convulsions bulging/tense fontanelle posturing ↓GCS
Periventricular/intraventricular haemorrhage investigations
transfontanelle USS = investigation of choice
Periventricular/intraventricular haemorrhage management
mainly supportive
Neonatal hypoglycaemia
hypoglycaemia is commonly seen in first 24h post birth
Neonatal hypoglycaemia threshold
<2.6mmol/L
severe <1.4mmol/L
causes of persistent/severe neonatal hypoglycaemia
preterm large for gestational age hypothermia neonatal sepsis gestational diabetes
neonatal hypoglycaemia presentation
often asymptomatic jittery seizures tachypnoea weak cry drowsy hypotonia poor feeding
Management of neonatal hypoglycaemia
If asymptomatic:
encourage feeding & monitor blood glucose
If symptomatic:
buccal glucagon
IV glucose (10%) generally slow infusion but may require bolus if LOC/seizures
define neonatal sepsis
serious bacterial/viral infection in the blood of babies within 28 days of birth
time frame of neonatal sepsis
early onset (EOS): within 72h of birth late onset (LOS): 7-28 days after birth
Causative organisms for neonatal sepsis
Group B strep (75% of EOS)
E.coli
Risk factors for neonatal sepsis
mother with previous Group B Strep infection
prematurity
low birth weight
maternal chorioamnionitis
Presentation of neonatal sepsis
subacute onset of respiratory distress tachycardia apnoea jaundice seizures ↓ feeding lethargy fever (often fluctuates)
Investigating neonatal sepsis
Blood cultures
CRP (↑, helps guide management & monitor progress)
urine MC&S
LP
Management of neonatal sepsis
IV benzylpenicilin & gentamicin (usually 10 days)
guided by CRP & culture results (if both negative stop ABx after 48h)
physiological neonatal jaundice
due to RBC breakdown & immature liver function usually presents 2-3 days post birth & resolves by day 10 very common (up to 40% of neonates)
early neonatal jaundice
presents within 24h of birth
ALWAYS PATHOLOGICAL
causes include haematological disease (e.g. ABO incompatibility), congenital infection
prolonged neonatal jaundice
jaundice that persists >14 days in term/ >21 days in premature infants
causes: hypothyroidism, breast milk jaundice, Gi problems (e.g. biliary atresia)
causes of conjugated hyperbilirubinaemia in the newborn
biliary atresia
cystic fibrosis
neonatal hepatitis
Risk factors for significant neonatal jaundice
male gender gestational diabetes low birth weight jaundice in first 24h of life previous sibling requiring phototherapy preterm
presentation of neonatal jaundice
jaundice (usually first visible in face & forehead) drowsiness
neurological signs (muscle tone changes, seizures, altered cry)
NB neurological signs are Red flags and must be treated to prevent kernicterus
kernicterus
chronic bilirubin encephalopathy with deposition of unconjugated bilirubin in the basal ganglia and/or brain stem nuclei
leads to cerebral paresis, movement disorders, intellectual impairment
Investigating neonatal jaundice
bilirubin levels (serum bilirubin or transcutaneous bilirubinmeter) LFTs infection screen Haemolysis screen TFTs
Managing neonatal jaundice
phototherapy (as per treatment threshold on bilirubin charts) exchange transfusion (as per bilirubin chart threshold)
haemolytic disease of the newborn
due to transplacental passage of maternal antibodies causing immune haemolytic of the fetal/neonatal RBCs
may be due to naturally occurring antibodies e.g. ABO or sensitising events e.g. Rhesus alloimmunisation
presentation of haemolytic disease of the newborn
hydrops fetalis/polyhydramnios
jaundice
pallor
hepatosplenomegaly
investigating haemolytic disease of the newborn
indirect coombs test (+ve for antibodies)
foetal blood sampling (Rh typing)
FBC (↓Hb, ↑reticulocytes)
Neural tube defects (NTDs)
abnormal closure of the neural plates results in NTDs
risk factors for Neural tube defects (NTDs)
family history
folate deficiency
anti-epileptic drugs (sodium valproate, carbamazepine)
investigating Neural tube defects (NTDs)
MRI = gold standard
USS (antenatal screening)
AFP ↑ (antenatal screening at 16-18 weeks)
Prevention of Neural tube defects (NTDs)
folic acid supplementation (400 mcg/day for everyone until 12 weeks of gestation, 5mg if high risk)
risk factors for congenital heart defects
family history consanguineous unions intrauterine infection e.g. rubella drugs/toxins e.g. lithium or alcohol lack of folic acid gestational diabetes
most common congenital heart defect
Ventricular petal defect (VSD)
Ventricular petal defect (VSD) presentation
if small = asymptomatic
if larger = presents around 5-6 weeks post birth
exercise intolerance
feeding intolerance
harsh systolic murmur loudest at sternal edge (pan systolic)
Investigations for congenital heart defects
CXR
ECG
Echocardiogram
Atrial septal defect (ASD) presentation
generally missed in children and diagnosed in adults
soft systolic ejection murmur at left sternal edge and fixed S2 splitting
Atrioventricular septal defect (AVSD) presentation
similar to ASD &VSD dyspnoea cyanosis signs of HF in newborn pan systolic murmur
Complication of Atrioventricular septal defect (AVSD)
life long follow up needed due to development of AV valve regurgitation and left ventricular outflow obstruction
Patent ductus arteriosus (PDA) presentation
failure to thrive difficulty feeding poor growth continuous machinery murmur loudest in left infraclavicular area/upper left sternal edge hyperactive precordium systolic thrill at left sternal edge
Patent ductus arteriosus (PDA) management in preterms
indomethacin used to stop prostaglandin production & causing duct to close
General management of congenital heart defects
Surgical closure especially if symptomatic
Coarctation of the aorta presentation
poor feeding lethargy tachypnoea congestive HF shock BP in upper limbs > lower limbs systolic murmur in left infraclavicular area
coarctation of the aorta management in neonates
Prostaglandin E1 to maintain ductus arteriosus
surgery/balloon angioplasty to repair defect
tetralogy of fallot (TOF)
right ventricular hypertrophy
ventricular septal defect
right ventricular outflow tract obstruction
overriding aorta
tetralogy of fallot (TOF) presentation
poor feeding
breathlessnes
agitation
dyspnoea on exertion
squatting to rest while exercising (characteristic for R→L shunt)
Tet spells (intense crying, cyanosis, ↓intensity of murmur)
ejection systolic murmur
tetralogy of fallot (TOF) management
Prostaglandin E1 to maintain patent ductus arteriosus if unwell
asap surgical repair if unwell
surgical repair age 3-6 months if not unwell
transposition of the great arteries (TGA)
not compatible with life if no communication between the 2 circuits e.g. VSD/ASD/PDA
transposition of the great arteries (TGA) presentation
cyanosis soon after birth tachypnoea respiratory distress congestive HF (if large VSD) single loud S2, no murmur
Truncus arteriosus
single outflow tract
presents as congestive HF & cyanosis
Phimosis
non retractile foreskin associated with infection & scarring
presentation of phimosis
ballooning during micturition non retractile foreskin recurrent balanophosthitis painful micturition recurrent UTI's swelling/erythema/tenderness of prepuce
Management of phimosis
expectant management if <2yrs old
plastic surgery/circumcision if persistent >2y/o
paraphimosis
foreskin retracted & left behind glans leading to vascular engorgement & oedema of the distal glans
medical emergency, may need circumcision
Balnatitis/balanophosthitis
inflammation of the glans or glans & prepuce usually due to poor personal hygiene in uncircumcised males
Cleft lip/palate
relatively common congenital abnormality with a complex aetiology but it is associated with chromosomal/teratogenic syndromes
~30% have associated syndromes
cleft lip/palate presentation
obvious gap in newborn lip (usually upper lip)
gap in palate on palpation of roof of mouth
difficulty feeding (especially from bottle)
poor weight gain
Cleft lip/palate mangement
surgical repair in a stepwise fashion
lip closure at 3 months
palate closure at 6-12 months
anorectal malformations (ARMs)
range of conditions
generally diagnosed in early neonatal period
relatively common congenital abnormality
presentation of anorectal malformations (ARMs)
absence/abnormal location of anus
look for anal pit in males
looks for 3 classic peritoneal openings in females
anorectal malformations (ARMs) management
early surgical management crucial
Cerebral palsy
umbrella term for non progressive disease of the brain originating during the antenatal/neonatal/early postnatal period when brain neuronal connections are still evolving
Classifications of cerebral palsy
Spastic : intermittently ↑ tone, pathological reflexes
Athetoid/dyskinetic: hyperkinesia (storm movements), dsytonia, chorea, athetosis
ataxic: loss of orderly muscular coordination = abnormal force/rhythm/accuracy of movements
mixed type: a combination of the above
cerebral palsy presentation
↓ APGAR score delayed developmental milestones (especially motor & speech) retention of primitive reflexes spasticity/clonus contractures toe walking muscle tone abrnomalities
cerebral palsy associated conditons
learning disability ~50%
communication difficulty ~50%
epilepsy ~30%
Management of cerebral palsy
MDT approach psychological support is key oral baclofen/diazepam for spasticity botulin toxin for focal spasticity mobility aids & orthotics
chickenpox infection
caused by varicella zoster virus, highly infectious but generally only mild to moderate disease which is self limiting
presentation of chickenpox
pyrexia
itchy vesicular rash (generally starts centrally, like dew drops on rose pedals)
generally crops of lesions that eventually crust over
headache
malaise
chickenpox school exclusion
school exclusion & avoidance of pregnant woman until all lesions are crusted over
Measles
highly infectious disease caused by measles virus which has been becoming more frequent due to ↓ uptake of MMR vaccine
Measles presentation
prodrome of fever/irritability/conjunctivitis/coryza/cough
koplik spots (white spots on oral mucosa)
maculopapular rash (spreading from behind ears/head down to trunk)
high fever
Measles school exclusion
5 days from onset of rash
measles complications
pneumonia
otitis media
encephalitis
subacute sclerosing panencephalitis
chickenpox complications
varicella pneumonia
encephalitits
Mumps
acute systemic infectious disease caused by an RNA paramyxovirus which spreads via respiratory droplets
usually seen in school aged children
Mumps presentation
non specific symptoms e.g. mails, fever, headache, myalgia
unilateral/bilateral parotitis
orchitis (swollen oedematous scrotum)
Mumps school exclusion
5 days of school exclusions from onset of parotitis
Complications of mumps
epididymo-orchitis (sub fertility/infertility)
defaness (not permanent)
pancreatitis
Rubella presentation
prodrome (low grade fever, headache, mild conjunctivitis)
maculopapular rash (starts on face then spreads, fades after 3-5 days)
cervical/suboccipital/postauricular lymphadenopathy *
erythema infectiosum other names
fifth disease, slapped cheek syndrome
cause of slapped cheek syndrome (erythema infectiosum)
parvovirus B19
presentation of erythema infectiosum
prodrome (fever, malaise, headache, rhinitis, sore throat)
bright red macular erythema of bilateral cheeks sparing the nasal bridge/perioral areas
arthralgia/arthritis
complications of parvovirus B19 infection
transient aplastic crisis due to ↑RBC turnover e.g. in sickle cell pts, thalassaemia etc
Scarlet fever
exotoxin mediated disease secondary to bacterial function by an erythrogenic toxin producing strain of strep pyogenes
normal age of presentation of scarlet fever
peak at 4y/o
usually seen between 2-6 y/o
scarlet fever presentation
sudden onset fever lasting 24-48h
rash (appears on second day of illness, starting on neck/chest, coarse ‘sandpaper’ texture with fine punctuate erythema i.e. pinhead)
strawberry tongue
Management of scarlet fever
Notifiable disease
10 days of penicillin V (azithromycin if penicillin allergic)
school exclusion for scarlet fever
return 24h after initiating Abx
hand-foot-mouth disease
viral illness of childhood caused by cocksackie virus A16
usually seen in children <10y/o
presentation of hand-foot-mouth disease
prodrome (low fever, cough, abdo pain, malaise, loss of appetite) oral lesions (begin as macule that develop into vesicles and then erode) skin lesions (on palms/soles & in between fingers/toes, starts as macule progressing to vesicles)
school exclusion for hand-foot-mouth disease
not necessary
molluscum contagiosum presentation
rash (pearly papule with central umbilication, firm & smooth, usually found in clusters on trunk/extremities)
NB >50 lesions/facial lesions imply immunocompromise
Roseola infantum (sixth disease)
common febrile illness of childhood caused by Human herpes virus 6 (HHV 6)
usually seen in children between 6 months and 2 years of age
Presentation of roseola infantum
3-5 days of high fever (40°C), peaks in early evening
exanthema presents after fever resolves (2-5mm pink-red macules/papules)
maybe be associated with febrile seizures
pertussis (whooping cough)
URTI caused by bordetella pertussis which is characterised by a severe cough
NOTIFIABLE DISEASE even when suspected only on clinical grounds
Presentation of pertussis
prodrome: 2-3 days of coryza
dry hacking cough (usually worse at night, may cause vomiting)
inspiratory whoop (caused by forced inspiration against closed glottis after coughing fit)
Management of pertussis
macrolide Abx e.g. clarithromycin
School exclusion for pertussis
21 days from onset of symptoms or 48h after Abx started
croup (laryngotracheobronchitis)
URTI seen in infants & toddlers usually between 6 months and 3 years of age
caused by parainfluenza virus
Croup presentation
general non specific URTI
cough (seal like/barking = characteristic)
stridor
respiratory distress (nasal flaring, inter/subcostal recession/tracheal tug/tachypnoea)
lasts 3-7 days
croup scoring system
westley score
croup mangement
single dose oral dexamethasone (0.15mg/kg)
avoid agitating child (i.e. do not examine throat)
admit if moderate/severe croup
Bronchiolitis
Lower respiratory tract infection caused by respiratory syncytial virus (RSV)
generally seen in infants under the age of 2 with peak incidence between 3-6 months of age
Risk factors for severe bronchiolitis
prematurity low birth weight age <12 weeks congenital heart disease chronic lung disease
Croup presentation
prodrome: 1-3 day history of coryza symptoms
persistent cough (seal like/barking = characteristic)
stridor
respiratory distress (nasal flaring, inter/subcostal recession/tracheal tug/tachypnoea)
wheeze/crackles
poor feeding
rhinitis
fever (<39°C)
croup management
single dose of oral dexamethasone (0.15mg/kg) to all children regardless of severity
supportive therapy (O2, feeding support) self limiting, lasting 3-7days
Epiglottitis
a cellulitis of the supra glottis with the potential to cause airway compromise caused by haemophilia influenzas type B (HiB)
rare but serious infection
epiglottitis presentation
sore throat odynophagia fever inability to swallow secretions = drooling muffled voice tripod positioning
epiglottitis investigations
fibre-optic laryngoscopy = gold standard
lateral neck X-ray (thumb sign)
Management of epiglottis
oral/IV ABx (usually IV)
may require intubation/tracheostomy
Impetigo
common superficial skin infection cause by strep pyogenes or staph aureus
Bullus impetigo presentation
thin roofed bullae, tend to rupture spontaneously
often painful
Non bullous impetigo presentation
tiny pustules/vesicles which rapidly erode into a honey coloured crusted plaque
especially on face, around the mouth & nose
Management of impetigo
hydrogen peroxide 1% cream
topical Abs (fusidic acid)
Oral flucloxacillin if systemically unwell (erythromycin if penicillin allergy)
impetigo school exclusion
until all lesions crusted over & healed
or 48h after commencing ABx
Laryngomalacia
congenital abnormality of the larynx that predisposes to supraglottic collapse during the inspiratory phase
commonest cause of stridor in infants
often associated with GORD
Mesenteric adenitis
inflammation of mesenteric lymph nodes after viral illness
presents as fever, RLQ pain, nausea, vomiting
Kallman’s syndrome
delayed puberty secondary to hypogonadotrophic hypogonadism
x-linked recessive trait
presents with anosmia, delayed puberty, cryptorchidism
↓ sex hormone levels, ↓/normal FSH/LH
Kawasaki disease
idiopathic self limiting vasculitis
usually seen in children age 6 months to 5 years
more common in the asian population
Kawasaki disease presentation
Fever (≥39°C for ≥5days) conjunctival injections polymorphous rash erythema/oedema of palms/soles ±desquamation cervical lympadenopathy bright red cracked lips strawberry tongue
Kawasaki disease diagnosis
clinical
no diagnostic tests available
Management of kawasaki disease
Aspirin (high dose) IV immunoglobulin (IVIG)
complications of kawasaki
coronary artery aneurysm (screen with echo)
Henoch-Schönlein Purpura (HSP)
IgA mediated mediated autoimmune hypersensitivity vasculitis of unknown aetiology
usually seen between the ages of 4-6 years
most common vasculitis of childhood
Henoch-Schönlein Purpura (HSP) presentation
often preceded by URTI or GI infection arthralgia ± oedema abdo pain ± nausea & vomiting palpable, non blanching purpuric rash over buttocks & extensors surfaces of arms and legs renal disease
Management of Henoch-Schönlein Purpura (HSP)
NSAIDs for joint pain
consider corticosteroids if nephrotic range proteinuria
monitor renal function (BP & urinalysis at 6 & 12 months)
Febrile seizures
a seizure occurring in a febrile child between the ages of 6 months and 5 years without other underlying causes
Peak incidence of febrile seizures
18 months of age
simple febrile seizure
generalised tonic clonic seizure lasting <15min and do not recur within 24h/the same febrile illness
complex febrile seizure
≥1 of the following:
- focal seizure/focal features
- duration between 15-30min
- recurrence within 24h/same febrile illness
febrile status epilepticus
seizure >30 min duration
Trigger for febrile seizures
rapidly rising temp (usually early in illness)
presentation of febrile seizures
normal post ictal examination
generally tonic clonic seizures lasting <5min
quick recovery of consciousness
no sequelae
Referring a febrile seizure pt
if 1st febrile seizure unable to exclude serious illness complex seizure <18 months old status epilepticus
Management of febrile seizures
mainly parental education
e.g. call 999 if seizure >5min
give PR diazepam/buccal midazolam if >5min & repeat at 10 min
consider IV phenytoin if still continuing
Complications of febrile seizures
reoccurrence in 1/3 pts
↑ risk of developing epilepsy
otitis media
infection of the middle ear space occurring often in childhood
presentation of otitis media
otalgia (tugging at ear in younger children) irritability sleep disturbance fever malaise
Investigations for otitis media
otoscaopy (bulging tympanic membrane, red/yellow/cloudy tympanic membrane, air fluid level behind tympanic membrane, discharge in auditory canal if tympanic membrane perforation)
Management of otitis media
admit if <3 months & temp > 38°C / acute complication e.g. meningitis suspected
antipyretics & analgesia
Abx ( amoxicillin 1 st line, or erythromycin if penicillin allergy)
when to give ABx in otitis media
if ≥ 4 days duration & no improvement, systemically unwell, immunocompromised, perforation & discharge, <2y/o with bilateral AOM
Meningococcal disease causative organism
Neisseria meningitidis (gram -ve, commensal in nasopharynx)
Meningococcal disease
leading cause of infective deaths in early childhood
mostly seen in <5 y/o
peak age is in under 1 y/o
Presentation of Meningococcal disease
rapid onset of illness (febrile illness >24h unlikely to be meningococcal disease) fever, irritability, leg pain, headache stiff neck photophobia back rigidity bulging fontanelle seizures altered mental status ↓ level of consciousness non blanching purpuric rash hypotonia
Investigating Meningococcal disease
clinical suspicion
Blood cultures
lumbar puncture
Management of Meningococcal disease
< 3 months = cefotaxime/ceftriaxone +ampicillin/amoxcillin (to cover listeria)
> 3 months = cefotaxime/ceftriaxone
anticoagulation for DIC
complications of Meningococcal disease
sensorineural hearing loss
Disseminated intravascular coagulation
↑ ICP
Waterhouse- Friedrich syndrome
testicular torsion presentation
sudden onset intense scrotal pain pain associated with nausea & vomiting pain preceded by sport/physical activity absent cremaster reflex scrotal swelling/oedema/erythema
testicular torsion investigations
DO NOT delay surgical exploration if clinical suspicion is high
Management of testicular torsion
scrotal exploration (emergency surgery) bilateral orchioplexy
Appendicitis in children <4 y/o
uncommon but often presents as perforation if it does occur
Appendicitis presentation
abdo pain ( typically starting centrally then moving to RLQ/RIF, constant pain with intermittent cramps which is aggravated by movement)
anorexia
nausea & vomiting
Rovsing’s sign positive (palpation of LLQ = ↑ pain in RLQ as inflamed peritoneum is stretched)
Investigations for appendicitis
abdo USS/ CT abdomen
FBC
CRP (↑)
Managing appendicitis
appendectomy (laparoscopically)
Risk factors for paediatric asthma
atopy family history allergies passive smoking prematurity low birthweight
presentation of paediatric asthma
wheezing episodes/SOB/chest tightness/cough (symptoms often worse at night/early morning)
Investigating paediatric asthma
spirometry (↓FEV1/FVC ratio)
response to bronchodilators on spirometry
peak expiratory flow (↓)
CXR (normal)
managing paediatric asthma step 1
Inhaled short acting beta agonist (SABA) e.g. salbutamol
managing paediatric asthma step 2
SABA + low dose inhaled corticosteroids
managing paediatric asthma step 3
NB Step 2 = SABA + low dose inhaled corticosteroids
add leukotriene receptor antagonist (LTRA)
managing paediatric asthma step 4
NB Step 3 = Trial of LTRA
stop LTRA if ineffective and add LABA
Acute asthma in children management
Salbutamol via inhaler, or nebuliser with O2 if hypoxic
ipratropium bromide
oral/IV corticosteroids
nebuliser/IV magnesium sulphate
sign of life threatening asthma
SpO2 <92%, PEF < 33% silent chest cyanosis poor respiratory effort confusion agitation LOC
sign of severe asthma
SpO2 <92% HR >125 if >5y/o or >140 if 2-5y/o RR >30 if >5y/o or >40 if 2-5y/o use of accessory muscles inability to complete full sentences
causative organism for septic arthritis in children
staph aureus
Most commonly affected joint for septic arthritis in children
hip, knee, ankle
presentation of septic arthritis in children
easy to miss as localised signs may be absent
hot/swollen/painful joint
restricted movement of affected joint
unwillingness to weight bear/move affected joint
fever
investigating septic arthritis in children
joint aspirate for culture/MC&S (↑WCC)
FBC/CRP/blood cultures/U&Es/LFTs
USS/X-ray of joint
managing septic arthritis in children
joint drainage & Abx (according to local guidelines but often flucloxacillin)
Kocher diagnostic criteria for septic arthritis in children
fever >38.5 °C
non weight bearing
↑WCC
↑ESR/CRP
Slipped upper femoral epiphysis (SUFE)/slipped capital femoral epiphysis (SCFE)
due to weakness in proximal femoral growth plate allowing displacement of the capital femoral epiphysis
most common hip disorder in adolescent age group
SUFE epidemiology
more common in boys
peaks around age 13 for boys and age 11.5 for girls
SUFE risk factors
OBESITY**
endocrine disorders (e.g. hypothyroidism)
puberty
male gender
SUFE presentation
hip/groin discomfort/pain limp abnormal gait leg externally rotated loss of internal rotation of leg ↓ Range of movement may have knee pain
SUFE investigations
bilateral AP X-ray (kleins line does not intersect femoral head)
lateral frog leg X-ray ( +ve Bloombergs sign)
Management of SUFE
immobilise/non weight bearing
provide analgesia
surgical referral
single screw internal fixation
Classical presentation of SUFE
overweight/obese teenage boy
transient synovitis
self limiting inflammatory disorder common in young children often triggered by a viral infection e.g. URTI
Peak incidence age 5-6 yrs
Presentation of transient synovitis
discomfort/pain (less severe than septic arthritis, often still able to weight bear) limp abnormal gait ↓ Range of movement positive log roll systemically well
managing transient synovitis
analgesia
rest
usually self limiting
Perthes disease
self limiting disease of the femoral head with necrosis, collapse, repair and remodelling , essentially avascular necrosis of the nucleus of the proximal femoral epiphysis
Epidemiology of perthes disease
typically unilateral
5:1 male:female ratio
usually seen in boys aged 4-8 yrs
presentation of perthes disease
hip pain progressively worsening over several weeks limp stiffness ↓ Range of movement no history of trauma
investigating perthes disease
bilateral hip X-ray (femoral collapse & fragmentation)
lateral frog leg X-ray (widening of joint space)
both X-rays show (flattening of femoral head, and ↓ femoral head size)
managing perthes disease
physiotherapy
surgery if >6y/o
Developmental dysplasia of the hip
spectrum of mild dysplasia with stable hip to established hip dysplasia with subluxation and instability
affects 1-3% of newborns
Developmental dysplasia of the hip risk factors
female gender (6:1 female:male ratio) breech presentation family history oligohydramnios macrosomia
Developmental dysplasia of the hip presentation
often on NIPE examination/6 week baby check
positive ortolans’s and Barlow’s test (i.e. able to dislocated & relocate the hip joint)
limited hip abduction
Screening for developmental dysplasia of the hip
USS screening for all pts with the following
- first degree relative with history of hip problems in early life
- breech presentation at/after 36 weeks gestation
- multiple pregnancy
All babies are screened view Barlow/Ortolani test at NIPE/6week check
Investigating developmental dysplasia of the hip
USS of hips
Hip X-ray if >6months of age
developmental dysplasia of the hip management
stabilisation with Pavlik harness if <5months
if failed stabilisation/>6 months old =surgery
juvenile idiopathic arthritis (JIA)
collection of chronic paediatric arthropathies characterised by onset <16 yrs and presence of objective arthritis for >6 weeks
Presentation of juvenile idiopathic arthritis (JIA)
> 6 week duration joint pain erythema joint swelling fever morning stiffness ↓ ROM pink salmon coloured rash
managing juvenile idiopathic arthritis (JIA)
NSAIDs
steroids
methotrexate (1st line if >1 joint affected)
Osgood-Schlatter disease
overuse syndrome of the paediatric population typically affecting young athletes during adolescent growth spurts
more common in boys
one of the most common causes of knee pin in active adolescents
Osgood-Schlatter disease presentation
gradual pain/swelling below knee
pain worse on activity/better at rest
pain over tibial tuberosity
Toddlers diarrhoea
commonest cause fo chronic diarrhoea in young children
characterised by undigested food in stool & systemically well child
Cow’s milk protein intolerance
one of the commonest allergic disorders in young children, usually seen in 1st year of life (especially formula fed infants
Cow’s milk protein intolerance presentation
failure to thrive ↓ growth velocity skin reaction (urticaria/angioedma) Nausea & vomiting diarrhoea abdo pain
gastroenteritis in children
frequently rotavirus
very common in <5y/o
Managing gastroenteritis in children
encourage fluid intake & continue feeding
offer ORS if ↑ risk of dehydration
IV fluids if dehydrated
IV fluids for dehydrated children
if shocked 100ml/kg
if not shocked 50ml/kg
coeliac disease
systemic autoimmune disease triggered by dietary gluten peptides
HLA DQ2 & HLA DQ8 associated
coeliac disease presentation
failure to thrive diarrhoea abdo distension faltering growth persistent mouth ulcers
investigating coeliacs disease
total IgA
IgA-tTG (tissue transglutaminase)
endomysial antibody
small bowel biopsy
GORD in children
very common especially in <1y/o due to immature sphincters
NB smalll amounts of asymptomatic effortless regurgitation after feeding (possetting is normal)
Presentation of GORD in infants
stressful meal times long feeds inappropriate volume of feeds regurgitation vomiting irritability at meal times
managing GORD in infants
feeding position (30°, head up)
review feeding volume
trial of gaviscon
constipation in children presentation
difficult/painful defectation straining long interval between stools faecal incontinence anal fissure
Red flags for constipation
symptoms from birth/in first weeks of life overflow soiling >48h to pass meconium ribbon stools leg weakness abdo distension + vomiting abnormal appearance of anus abnormal reflexes
Managing constipation in children
1st line: paediatric movicol
2nd line: add stimulant laxative if no dissimpaction after 2 weeks e.g. senna or decussate
3rd line: if still not working substitute stimulant laxative for lactulose
Reflex anoxic seizures
syncopal episodes secondary to emotional/painful stimuli
usually seen in children aged 6 months - 2yrs
30-60 sec on tonic jerking of limbs but no post ictal phase
no treatment needed
Breath holding spells
vigorous crying followed by blocked respiration resulting in cyanosis, LOC, opisthotonic posturing
Infantile spasms (west syndrome)
seen in babies aged 4-8months
Salaam attacks of head bobbing/torso flexion/arm flexion
usually spasm occur in clusters (ie repeated 50x), generally symmetrical & bilateral
CT (diffuse/localised brain disease) & EEG
Treatment = vigabatrin
poor prognosis
absence seizures in childhood
onset usually age 3-10yrs
presenting with behavioural arrest/starring attacks lasting 5-10 secs, with no aura or post-octal phase
Management : 1st line = sodium valproate/ethosuximide/lamotrigine
Tonic clonic seizures in childhood
contraction of limbs followed by extension & arching of back lasting 10-30 seconds
cyanosis & apnoea
post ictal phase up to 30 min
tongue biting common
Management: lamotrigine or levetiracetam
Benign rolandic epilepsy/benign focal epilepsy
children aged 4-10yrs, more common in boys
nocturnal seizures especially on waking characterised by facial twitching & aphasia
most children outgrow these & no treatment required
Status epilepticus in children
prolonged seizure >30min or recurrent seizures without full return to baseline between seizures
managing status epilepticus in children
at 5 min = Buccal midazolam/rectal diazepam (0.5mg/kg)
repeat at 5-10 min after first dose
at ~25min = phenytoin IV (20mg/kg) over 20 min
if not terminated = RSI & intubation
causative organisms for paediatric sepsis
neonates <72h after birth = group B strep
neonates 72h-28 days after birth = coagulase -ve staph
infants/young children = staph pneumoniae, neisseria meningitidis
Abx for paediatric sepsis
cefotaxime/ceftriaxone + gentamicin is commonly used
contraindications for Lumbar puncture
coma suspected ↑ ICP cardiovascular/respiratory compromise suspected cerebral herniation coagulopathy/thrombocytopenia local infection
Septic screen in children
Blood cultures urine MC&S Lumbar puncture ABG CXR/AXR FBC/CRP/U&Es/LFTs/Coagulation
definition of neutropenic sepsis
neutrophil count <500 cells/microlitre (<0.5x10^9) in a patient having anticancer therapy + temp >38.5°C or other clinical features of sepsis
Abx management of neutropenic sepsis
Tazocin (piperacillin + tazobactam)
Pneumonia in children causative organism
strep pneumonia = most common causative organism
first line Abx for penumonia in children
amoxicillin
UTI in children causative organisms
E. coli most common
UTI presentation in children
Fever (>39°C) lethargy poor feeding frequency dysuria abdo pain
UTI investigation for children
clean catch urine for urinalysis (+ve nitrites, +ve leukocytes) & MC&S (↑WBC, diagnostic culture)
management of UTI in children
<3 months old = refer to peads
> 3 months = cephalosporin/co-amoxiclav for 7-10 days
recurrent UTIs in children
should raise question of child abuse
Continence in children
majority of children achieve day & night time continence at age 3-4
enuresis
involuntary discharge of urine day/night/both in a child ≥5 y/o in absence of congenital/acquired defects of the nervous system of the urinary tract
primary vs secondary enuresis
primary = never previously acquired continence
secondary = in a child who has previously been dry for >6months
Management of enuresis
1st line = advice on fluid intake & toileting behaviour
2nd line= reward system
3rd line = enuresis alarm
4th line = desmopressin (particularly in 7y/o for short term control e..g a sleep over/school trip)
Haemophilia
X-linked recessive bleeding disorder
Haemophilia A = factor VII deficiency (more common)
Haemophilia B = factor IX deficiency
present with recurrent/severe bleeding, easy bruising, pronged bleeding episodes, recurrent nose bleeds
Investigations: aPTT (↑), plasma factor VIII/IX (↓/absent), PT (normal)
Management: Type A (prophylactic factor VIII)
Type B (recombinant factor IX)
Neuroblastoma
solid tumour arising from the developing sympathetic nervous system
majority of pts diagnosed by age 5
location usually adrenal/paraspinal sites
presents with abdo distension, abdo mass, fatigue, bone pain, constipation, hepatomegaly, weakness paralysis
FBC ( pancytopenia), USS abdo (shows mass), CT/MRI urinary catecholamines ( VMA/HVA ↑)
Wilms tumour/nephroblastoma
most common renal malignancy of childhood presenting between age 2-5
presents as asymptomatic abdominal mass, flank pain, UTIs, haematuria, pallor
Urinalysis (↑RBC, ↑protein), abdo USS, CT/MRI
management: nephrectomy followed by chemo
Osteosarcoma
most common primary bone malignancy in children, usually seen age 13-16
presents with worsening bone pain over weeks/months, which is worse at night, firm mass/swelling, limping
75% in knee/proximal humerus
X-ray (sunburst appearance of calcified soft tissue, conman triangle of subperiosteal bone), ALP (↑), LDH (↑)
management: surgery + chemo
Ewings sarcoma
rare cancer, usually occurs in teenagers
presents as mass/swelling in long bones, pelvis or skull with pain, erythema, weight loss, malaise
X-ray (bone destruction and overlying onion skin layers of periosteal bone), biopsy
Management: chemo (VIDE)
brain tumours in children
brain = most common site of solid tumours in children, mainly infratentorial, astorcytomas & medulloblastomas are most common
presents with headache, vomiting, gait abnormalities, co-ordination problems, papiloedma
Headache (worse in morning, frequent, gradually working)
MRI/CT head
Management: surgery/chemo/radiotherapy
Retinoblastoma
embryonal tumour of the retina usually seen in <5y/o with a peak at 18 months of age
presents with leukocoria (absent red reflex), strabismus, visual problems, pseudo-orbital cellulitis, ocular pain (indicates advanced disease)
fundoscopy and examination under GA, MRI
Management: enucleation & implant
Leukaemia in childhood
most common diagnosed cancer in children, with peak incidence between 2-3 yrs of age
Acute lymphoblastic leukaemia (ALL) = 80% of childhood leukaemia
Acute myeloid leukaemia (AML) = 15% of childhood leukaemia, most common in infants
presents with anaemia, thrombocytopenia, hepatosplenomegaly, lymphadenopathy
often vague non specific symptoms
FBC/blood film (pancytopenia, ↑blast cells)
bone marrow aspirate/biopsy
CT/MRI
management: chemotherapy
allogenic bone marrow transplant
Prognosis of childhood leukaemia
leading cause of death in childhood
ALL better prognosis than AML
Childhood lymphoma
lymphoproliferative disorder, non-hodgkins type is more common in children
presents with painless, progressive lymphadenopathy (rubbery, asymmetrical), fatigue, fever, malaise, night sweats, ↓weight
FBC (thrombocytopenia, neutropenia), excisions node biopsy (diagnostic) CT/MRI chest/abdo/pelvis
Management: watchful waiting, chemotherapy, radiotherapy
ADHD
a disorder of inattention, hyperactivity, impulsivity which affects ~5% of children
usually diagnosed at age 3-7
more common in boys
Diagnostic criteria for ADHD
≥ 6 of the following symptoms which have persisted for ≥6months to a degree that is maladaptive & inconsistent with developmental level
symptoms present in ≥2 settings
Inattention:
Poor attention to details at work/school, Difficulty sustaining attention during tasks, Does not listen when spoken to directly, Inability to complete tasks/instructions at work/school, Struggles to organize tasks/activitie, Prefers to avoid tasks that require a high amount of mental effort, Loses things necessary to complete tasks, Easily distracted, Forgetful
Hyperactivity & impulsivity:
Fidgets or squirms in seat, Often leaves their seat during inappropriate situations, Restless, Unable to carry out tasks quietly, Talks excessively, Answers questions prematurely or for others, Difficulty waiting their turn, Interrupts other people
management of ADHD in children
CAMHS referral
education & advice
regular exercise & healthy diet
pharmacological
Methylphenidate (monitor heigh & weight 6 monthly)
lisdexamfetamine or atomoxetine (2nd line)
Monitoring children on pharmacological therapy for ADHD
Monitor height & weight
monitor BP & ECG (drugs potentially cardiotoxic)
Autism spectrum disorder (ASD)
a disorder characterised by persistent impairments of social communication, restricted, repetitive and stereotyped patterns of behaviours/interests/activities
more common in males
Presentations of autism spectrum disorder (ASD)
impaired social communication & interaction
language delay/regression
verbal & non-verbal communication impairment
repetitive, rigid, stereotyped interests/behaviours/activities
motor stereotypes (e.g. rocking, spinning)
feeding difficulties
sensory interests (e.g. examining objects closely)
Investigations for autism spectrum disorder (ASD)
ASD screenign tools
Management of autism spectrum disorder (ASD)
early educational & behavioural interventions
SALT
occupational therapy
family support and counselling
Rickets
changes caused by deficient mineralisation of the growth plates of long bones
presents with slow growth rate, bone pain, bony deformities (bow legs, knock knees), late dentition
management: Calcium & Vit D supplementation, phosphate salts
Assessing puberty stages
Tanner stages are used in boys and girls
Normal onset of puberty
Males: 12-13 y/o
Females: usually round 11y/o
First sign of puberty in boys
testicular enlargement
First sign of puberty in girls
breast development
Delayed puberty in boys
absence of testicular development i.e. testicular volume <4ml at age 14
Delayed puberty in females
absence of breast development by age 13 or primary amenorrhoea with normal breast development by age 15
average age of menarche
13 years
Causes for delayed puberty
central
Constitutional delay of growth and puberty (CDGP), chronic disease, malnutrition, excessive physical exercise, hypothyroidism
Peripheral
Boys: testicular damage, Prader-willi/Noonas/Klinefelters
Girls: Turner, PCOS
Precocious puberty in boys
in boys before age 9
Precocious puberty in girls
in girls before age 8
NB 5-10x more common in women)
Types of Precocious puberty
gonadotrophin dependent (central precocious puberty)
most common, premature HPG axis activation
↑FSH/LH
e.g. CNS tumours
gonadotrophin independent (precocious pseudo puberty)
les common, production of sex independent of HPG axis
↓FSH/LH
↑ testosterone/estradiol
e.g. congenital adrenal hyperplasia
Investigating precocious puberty
FSH/LH levels
testosterone
oestrogen
USS pelvis
paediatric fluid resuscitation
20ml/kg NaCl 0.9% over 10 minutes
if ≥40-60ml/kg required call PICU
Paediatric maintenance fluids
100ml/kg/24h for first 10kg
50ml/kg/24h for second 10 kg (11-20kg)
20ml/kg/24h for every kg >20kg
to calculate rate
rate (ml/h) = total daily requirements/24
Dehydration fluids in children
50ml/kg (~5%) deficit add 50ml/kg/24h as fluid replacement on top of maintenance
100ml/kg (~10%) deficit add 100ml/kg/24h as fluid replacement on top of maintenance
Red flags for developmental milestones
developmental regression/loss of previously acquired skills/milestones
parental concerns
hand preference in infant <1y/o
marked hyper/hypotonia
lack of response to sound/visual stimuli
poor interaction with parent/other children
Red flags for headaches
headache waking them up at night/present at waking worse on coughing/bending over persistent vomiting fever/neck stiffness/photophobia confusion altered level of consciousness change in gait/balance seizures focal neurology school absences due to headache
Non accidental injuries red flags
no history of trauma
unwitnessed trauma
injury incompatible with developmental stage
delayed presentation
changing history
fractures in child <1y/o
multiple fractures
presence of other injuries
fractures of different ages
injuries to sites not usually exposed to trauma
lack of concordance between given MOI and injury
Fever red flags
≥38°C in <3 months old ≥39°C in 3-6 month old non blanching rash/mottled skin child appears unwell to HCP ↓ fluid intake/ ↓ urine output does not wake when roused/does not stay awake signs of dehydration bulging fontanelle seizures persistent fever >5days
Features of innocent murmurs
systolic
musical/vibratory quality
does not radiate
Vary with respiration & positioning
Migraine in children
very common (~10%), most common cause of primary headache in children
Presentation of migraine in children
headache lasting 4-72h usually unilateral, usually frontal/temporal with a pulsating/throbbing character
may be associated with nausea & vomiting, photophobia or photophobia
Managing migraine in children
NSAIDs (ibuprofen)
NB Ibuprofen is more effective than paracetamol
Tension headache in children
2nd most common cause of headache in children, can be episodic or chronic
Triggers for tension headaches
stress (physiological, social, emotional)
disturbed sleep pattern
mental tension
Presentation of tension headaches
generalised bilateral headache, usually less severe than migraine, pressure like non-throbbing pain, often occipital/frontal
described as tight band around head
Managing tension headaches in children
advice on triggers
simple analgesia
TCAs (for recurrent/chronic TTH)
Fetal alcohol syndrome presentation
failure of growth (↓ head circumference, ↓ weight, ↓ length), irreversible (i.e. stunted for life)
craniofacial abnormalities (microcephaly, flat philtre, micro/retrognathia, microphtalmia, cleft lip/palate)
presence of congenital abnormalities (e.g. congenital heart defects)
neurodevelopment abnormalities ( e..g developmental delay, learning difficulties, mental health problems, behavioural problems)
Diamond blackfan syndrome
congenital hypoplastic anaemia that usually presents in infancy
presents with severe/life threatening in first few months of life as severe hypo plastic microcytic anaemia
treated with ciclosporin A + prednisolone
Caput succedaneum
poorly defined subcutaneous collection of serosanguinous fluid,soft puffy swelling, spreads over suture lines and midline
soft puffy swelling
due to prolonged labour or use of venous delivery
Cephalohaematoma
subperiosteal haematoma that develops shortly after birth, usually in parietal region, does not spread across suture lines
may cause jaundice as haematoma resolves
Erbs Palsy
injury to upper trunk of the brachial plexus (C5/C6)
causes loss of motion of shoulder with limp arm that is adducted & internally rotated
absent bicep reflex, intact grasp reflex
due to excessive lateral traction on neck during labour
Klumpke’s palsy
injury to lower trunk of brachial plexus (C7/C8/T1)
causes paralysis & weakness of hand, loss of grasp reflex, may cause Horner’s
due to excessive traction on arm during delivery
Juvenile idiopathic arthritis (JIA)
arthritis occurring in someone who is less than 16 years old that lasts for more than 6 weeks. Systemic onset JIA is a type of JIA which is also known as Still’s disease
presentation includes pyrexia, salmon-pink rash, lymphadenopathy, arthritis, uveitis, anorexia and weight loss
ANA may be positive (especially in oligoarticular JIA)
rheumatoid factor is usually negative
NBP pauciarticular JIA refers to cases where 4 or less joints are affected. It accounts for around 60% of cases of JIA
