Paediatrics Flashcards
What are the three fetal shunts?
Ductus venosus (umbilical vein to inferior vena cava)Foramen ovale (right atrium to left atrium)Ductus arteriosus (Pulmonary artery to aorta)
How can you keep the ductus arteriosus open and when might you want to keep it open?
Prostaglandin infusionWhen there is a cardiac abnormality causing right->left shunt.
What are features of an innocent murmur?
SoftShortSystolicSymptom-lessSituation dependent
What murmur is associated with an atrial septal defect?
Ejection systolic murmur, crescendo decrescendo
What murmur is associated with a PDA?
Machinery murmur of 2nd heart sound
What murmur is associated with Tetralogy of Fallot?
Ejection systolic murmur heard best at LUSE (pulmonary stenosis)
Which congenital heart conditions cause CYANOTIC heart disease?
Tetralogy of FallotTransposition of the great arteries
What murmur is associated with aortic stenosis? What other features are there?
Ejection systolic murmur, crescendo-decrescendo Narrow pulse pressureSlow rising pulseSoft or absent S2 S4
How is aortic stenosis managed?
If asymptomatic -> observeIf symptomatic -> valve replacement
What is the most common complication of aortic stenosis?
Left ventricular outflow tract obstruction
What conditions are associated with pulmonary stenosis?
Tetralogy of FallotWilliam syndromeNoonan syndromeCongenital rubella syndrome
How does pulmonary stenosis present?
Ejection systolic murmur - louder on inspirationOften found incidentallySymptoms can be fatigue, SOB, failure to thrive
What murmur is associated with pulmonary stenosis? What other signs are there?
Ejection systolic murmur loudest in the pulmonary areaPalpable thrillRight ventricular heave due to RV HypertrophyRaised JVP
What are causes of heart failure in: Neonates, infants, and older children?
Neonates = due to obstructed circulation (Hypoplastic left heart syndrome, aortic stenosis, coaractation of the aorta, interruption of aortic arch)Infants = due to high pulmonary blood flow (ventricular septal defect, atrioventricular septal defect, large PDA_Older children (Eisenmenger syndrome, Rheumatic heart Disease, Cardiomyopathy)
Which heart conditions cause a left to right shunt?
ASDVSDPDA
Which heart conditions cause a right to left shunt?
Tetralogy of FallotTransposition of the great arteries
Which type of shunt causes cyanosis?
Right to left
What are signs of heart failure in neonates/infants?
BreathlessnessSweatingPoor feedingRecurrent chest infectionsFailure to thrive
What are symptoms and signs of atrial septal defect?
Symptoms = wheeze, may be often asymptomaticSigns = Ejection systolic murmurFixed, widely split S2
What is seen on CXR in atrial septal defect?
CardiomegalyEnlarged pulmonary arteriesIncreased pulmonary vascular markings
How does a ventricular septal defect present?
If it’s smaller than the aortic valve (<3mm) = asymptomatic, LOUD pan systolic murmur at LLSE, quiet pulmonary S2, CXR = normal. If larger than aortic valve = presents with heart failure, recurrent chest infections, SOFT pan systolic murmur, LOUD pulmonary S2. CXR shows signs of heart failure.
How is a ventricular septal defect managed?
Smaller asymptomatic VSD = close spontaneouslyLarger symptomatic VSD = Surgical repair required
What are signs of a patent ductus arteriosus?
Continuous machinery murmurLeft subclavicular thrillBounding collapsing pulseWide pulse pressureHeaving apex beat
How is a patent ductus arteriosus managed?
In preterm infants can give Indomethacin/Ibuprofen to help close the PDAIf asymptomatic - wait to see if it closes by 1 year If symptomatic - needs closing
What is Eisenmenger syndrome and which conditions typically can cause it?
When a heart condition causing a L to R shunt, eventually causes pulmonary HTN and therefore it becomes a R to L shuntThis leads to cyanosis Causes= ASD, VSD, PDA,TOF
How is Eisenmenger syndrome managed?
Complete heart-lung transplantation required
Which congenital heart condition is associated with Turner syndrome?
Coarctation of the aortaAortic stenosis (due to bicuspid aortic valve)
How does coarctation of the aorta present?
Weak femoral pulsesMid systolic murmurTachypnoeaRadio-femoral delayApical click
How is coarctation of the aorta managed?
If critical, need to keep ductus arteriosus open with prostaglandin infusion whilst awaiting surgery
What are the 4 features of Tetralogy of Fallot?
- Ventricular septal defect2. Right ventricular hypertrophy3. Pulmonary stenosis4. Overriding aorta
How does Tetralogy of Fallot cause cyanosis?
Pulmonary stenosis means that there is higher pressure on R side of heart, this means that there is a R to L shunt through the VSD
How does Tetralogy of Fallot present?
Ejection systolic murmur (due to pulmonary stenosis)Cyanosis”Tet spells” - cyanotic episodes, infant will typically squat
What is seen on CXR in Tetralogy of Fallot?
Boot shaped heart
How is Tetralogy of Fallot managed?
Surgical repair
What is Ebstein’s Anomaly?
A congenital heart defect where the tricuspid valve is set lower than usual, causing the RA to be larger than usual and the RV to be smaller than usual
What are signs of transposition of the great arteries?
Loud single S2 Prominent right ventricular impulse
What does a continuous machinery murmur indicate?
Patent ductus arteriosus
What can an ejection systolic murmur indicate?
Aortic stenosis - LLSE (crescendo-decrescendo)Pulmonary stenosis - Pulmonary areaAtrial septal defect (crescendo-decrescendo)
Aortic stenosis vs. ASD?
Aortic stenosis = narrow pulse pressure, slow rising pulse, soft S2ASD = fixed splitting of S2
What might be seen on an ECG in an ASD?
RBBB
Which condition can cause patients with a DVT to develop a stroke?
Atrial septal defect
What are signs of respiratory distress in children?
Raised RRUse of accessory musclesIntercostal/subcostal recessionsNasal flaringHead bobbingTracheal tugging
What are causes of stridor?
Croup - stridor + barking coughAcute epiglottitis - stridor, drooling, acutely unwellInhaled foreign body - chokingLaryngomalacia
What is the cause of bronchiolitis?
RSV (Respiratory syncytial virus)
How does bronchiolitis present?
Coryzal symptoms - runny nose, watery eyes, sneezingDry coughMild feverWheezeDyspnoeaTachypnoea
When should a child with bronchiolitis be admitted?
Under 3 monthsPre-existing health condition Clinical dehydrationRR > 70Oxygen sats <92%ApnoeasDeep recessionsHead bobbing
How is bronchiolitis managed?
SupportiveSupplementary oxygen if required
Which children are at risk of severe bronchiolitis?
Bronchopulmonary dysplasiaCongenital heart diseaseCystic fibrosis
How to differentiate Asthma vs. Viral induced wheeze?
Viral induced wheeze..Features of viral illness e.g. coryza, feverPresents prior to 3 yearsNo atopy historyOnly occurs during infections
How is viral induced wheeze managed?
1st line = Salbutamol
What is the stepwise management of Asthma in under 5’s?
- SABA (e.g. Salbutamol)2. Low dose ICS or Montelukast3. Add other option4. Refer to specialist
What is the most common bacterial and viral cause of pneumonia in children?
Strep pneumoniaeRSV
How does pneumonia present?
Productive coughFeverTachypnoeaTachycardiaHypotension
How is pneumonia managed in children?
1st line = Amoxicillin2nd line = Macrolide (Clarithromycin, Erythromycin, Azithromycin)
What is croup? What is the most common causative organism?
Upper respiratory tract infection which causes laryngeal oedema, leading to stridorMost common = Parainfluenza virus
How does croup present?
StridorBarking coughLow grade feverCoryzaIncreased work of breathing
When should a child with croup be admitted?
Stridor at restRecessionsAny significant distressTachycardia
How is croup treated?
Single dose oral DexamethasoneOxygen if required
What organism causes epiglottitis?
Haemophilus influenza type B
How does epiglottitis present?
Acute onsetSore throatStridorTripod positionHigh feverDrooling of saliva
What is seen on neck XR in epiglottitis?
Thumb sign
How is epiglottitis managed?
IV CeftriaxoneOxygen
What is Laryngomalacia?
Soft larynxLarynx causes partial airway obstructionCauses chronic stridor on inhalation
How is Laryngomalacia managed?
Problem usually resolves as the larynx matures and grows
What is whooping cough?
URTI caused by Bordatella pertussis
How does whooping cough present?
Sats with coryza symptomsThen - Severe coughing fits, worse at nightInspiratory whoop at end of coughing fit May be vomitingMay be apnoea attacks
How is whooping cough treated?
Supportive careIn first 21 days - can use oral macrolide
What do infants with bronchopulmonary dysplasia receive to reduce infections?
Monthly injection of Palivizumab
What type of inheritance pattern does cystic fibrosis have?
Autosomal recessive
What are the first signs of CF?
Meconium ileusProlonged jaundice
What are features of CF?
Chronic coughThick sputumRecurrent infectionsGreasy stoolsFinger clubbingPancreatic enzyme deficiency
What are common colonisers in CF?
Staph aureusPseudomonas
What is the gold standard diagnostic investigation for CF? What does it show?
Sweat test showing increased chloride levels
How is CF managed?
Chest physioHigh calorie idetPancreatic enzyme supplementationProphylactic flucloxacilin
What are complications of CF?
DiabetesDelayed pubertyMale infertilityNasal polyps
Why are males with CF often infertile?
Absence of the vas deferens
What is primary ciliary dyskinesia?
Autosomal recessive conditionTRIAParanasal sinusitisBronchiectasisSitus invertus
What is abdominal migraine?
Episodes of central abdominal pain lasting more than 1 hourIntense and acute pinInterferes with normal activityAssociated N+V, headache, photophobia, aura
How can abdominal migraine be treated?
Dark, quiet roomParacetamolSumatriptanPropylaxis –> Pizotifen
What is classed as constipation in children?
<3 stools per week (does not apply to exclusively breastfed babies)Rabbit dropping stools
How can you differentiate between primary and secondary constipation?
Secondary constipation is from birth If meconium takes longer than 48 hours to pass, ribbon stools, faltering growth, or vomiting - referral needed
How is primary/idiopathic constipation treated?
First line in children is an osmotic laxative e.g. MovicolIf no response can add a stimulant e.g. Senna +/Lactulose
What is the main cause of reflux in babies?
Immaturity of the lower oesophageal sphincter
How can reflux in babies be managed?
Small, frequent feedsBurp regularlyKeep baby upright after feeding If still problematic can mix Gaviscon with feeds
What is pyloric stenosis?
Hypertrophy and narrowing of the pyloric sphincter (the ring of muscle between the stomach and duodenum)
How does pyloric stenosis present?
Usually presents in 2nd-4th week of lifePeristalsis tries to push food down to the duodenum but it instead ejects upwards Projectile vomiting (non-bilious)May be constipation/diarrhoeaMay be a palpable mass due to hypertrophied pyloric sphincter (often mentioned as olive shaped mass)
What blood gas results are seen in pyloric stenosis?
Low chlorideLow potassiumAlkalosis Due to baby vomiting hydrochloric acid from stomach
What are signs of clinical dehydration in children?
Decreased urine outputSunken eyesDry mucuous membranesTachycardiatachypnoeaReduced skin turgor
What are signs of clinical shock in children?
Decreased consciousnessCold extremitiesPale/mottled skinTachycardiaTachypnoeaWeak peripheral pulsesProlonged cap refillHypotension
How to calculate replacement fluids in children?
(% dehydration x kg x 10) = mls of fluids
How to calculate maintenance fluids in children?
First 10kg = 100ml/kgNext 10kg = 50ml/kgAfter that = 20ml/kg
How to calculate resuscitation fluids in children?
Resuscitation fluids = 20ml/kg EXCEPT IN….neonates, DKA, septic shock, trauma, cardiac pathology (heart failure) = 10ml/kg
What is Hirschsprung’s disease?
A congenital condition where the nerve cells of the myenteric plexus are absent = absence of parasympathetic ganglion cells along a section of the bowel Aganglionic section does not relax - causing obstruction of the bowel
What conditions are associated with Hirschsprung’s disease?
Down’s syndromeNeurofibromatosisMEN II
How does Hirschsprung’s disease present?
Delay in passing meconiumIn older children - constipation, vomiting, abdominal pain
What is the gold standard diagnosis for Hirschsprung’s disease?
Rectal biopsy
What is intussusception?
An invagination of a portion of the bowel
How does intussusception present?
Severe colicky abdominal painRED CURRANT JELLY STOOLSausage shaped mass in the RUQPale, unwell childVomiting
What is seen on abdominal ultrasound in intussusception?
Target shaped mass
How is intussusception managed?
Reduction via radiology
What is biliary atresia?
A congenital condition where a section of the bile duct is narrowed or absent , preventing the excretion of conjugated bilirubin
How does biliary atresia present?
Presents in first few weeks of life with prolonged jaundiceDark urinePale stools
How is biliary atresia diagnosed?
Raised conjugated billirubinERCP Cholangiogram
How are umbilical hernias in children managed?
Common in neonates – usually resolve by 3 yearsIf not resolved by 5 years can consider surgical repair Note: Umbilical hernias are more common in Down syndrome
What is congenital diaphragmatic hernia?
Herniation of the abdominal viscera into the chest cavity due to incomplete formation of the diaphragm
How does congenital diaphragmatic hernia present?
Pulmonary hypoplasia + hypertension| Respiratory distress shortly
What are causes of cerebral palsy?
Antenatal:Maternal infectionTrauma during pregnancyPerinatal:Birth asphyxiaPreterm birthPostnatal:MeningitisSevere neonatal jaundiceHead injury
What are the types of cerebral palsy?
Spastic (hypotonia - LMN)Dyskinetic (hyper and hypotonia (damage to basal ganglia)Ataxic (problems with co-ordination - damage to cerebellum)Mixed
How can cerebral palsy present?
failure to meet milestonesincreased/decreased tonehand preference <18mproblems with co-ordination/speech/walkingLearning difficulties
What is hydrocephalus?
Build up of CSF in the brain and spinal cord
What is the most common congenital cause of hydrocephalus? What are other causes?
Most common= Aqueductal stenosis Other: Arachnoid cystsArnold-Chiari MalformationChromosomal abnormalities
What is aqueductal stenosis?
Cerebral aqueduct that connects the 3rd and 4th ventricles = stenosed
How does hydrocephalus present?
Rapidly increasing head circumferenceBulging fontanellePoor feedingVomitingPoor toneSleepiness
How is hydrocephalus managed?
Ventriculoperitoneal shunt
What are complications of a ventriculoperitoneal shunt?
InfectionBlockageExcessive drainageIntraventricular haemorrhageOutgrowing them
What is craniosynostosis?
Skull sutures close prematurely - results in a normal head shape
What is plagiocephaly and brachycephaly?
Plagiocephaly = flattening of one area of baby’s headBrachycephaly = flattening of back of baby’s head
How is craniosynostosis investigated?
Skull XR
How does Duchenne’s muscular dystrophy present?
Weakness in pelvic musclesGower’s sign +ve (use hands on legs to help them stand up)X-linked recessive
What is the most common ocular malignancy in children ad how does it present?
RetinoblastomaLoss of red reflexStrabismusVision problems
What is the most common causative organism of scarlet fever?
Strep pyogenes
How does scarlet fever present?
Fine, pinhead erythema Rough sandpaper like texture to the skinStrawberry tongueFever, malaise, lethargySore throatCan be febrile seizures
How is scarlet fever managed?
Penicillin V - need a prolonged course of 10 days
How long does a child with scarlet fever need to be kept off school?
Until 24 hours after commencing Abx
What are complications of scarlet fever?
Otitis mediaRheumatic feverAcute glomerulonephritis
What is the most common bacterial cause of otitis media?
Strep pneumoniae
What is glue ear?
Acute otitis media with effusionMiddle ear becomes full of fluid and leads to hearing lossDue to blockage of the Eustachian tube
How is glue ear seen on otoscopy?
Dull tympanic membraneAir bubblesVisible fluid level
How is glue ear managed?
Gommets may be needed if there is a structural abnormality e.g. Down syndrome/cleft palate
What are congenital causes of hearing loss?
Maternal Rubella/cytomegalovirus Genetic deafnessDown syndrome
What are post-birth causes of hearing loss?
Jaundice (kernicterus)Meningitis/encephalitisOtitis media/glue earChemotherapy
What is cleft lip and cleft palate?
Cleft lip = split/open section of upper lip| Cleft palate = defect in hard/soft palate with opening in between mouth and nasal cavity
When does surgery for cleft lip and palate occur?
Lip = 3monthsPalate = 6-12 months
Which type of congenital neck lump transilluminates? Where does this neck lump usually sit?
Cystic hygroma| Posterior to sternocleidomastoid
What is the most appropriate hearing test in newborns? What do you do if this test is abnormal?
Otoacoustic emission test – should be done as part as the newborn hearing screening programmeIf abnormal – auditory brainstem response test
What hearing test is usually done at schools?
Pure tone audiometry
Which cells produce surfactant?
Type 2 alveolar cells
What are the 5 parts of neonatal resus?
- Warm baby2. Calculate APGAR3. Stimulate breathing4. Inflation breaths5. Chest compressions
What is used for inflation breaths?
Term babies - AirPreterm babies - Air + oxygen
What are the five parts of APGAR?
Appearance = Blue centrally, blue peripheries, pinkPulse = Absent, <100, >100Grimace = Absent, little response, good responseActivity = None, flexed arms/legs, active.Respiration = Absent, weak, good/crying
What is caput succudaneum?
Present at birthOedema of the scalp at the presenting part - typically the vertexNo discolouration associated Lump crosses suture lines
What is cephalohaematoma?
Develops several hours after birth Collection of blood between the skull and the periosteum Lump does not cross suture linesJaundice may be apparent due to blood breakdown
What is Erb’s palsy?
A result of injury to C5/C6 Internally rotated shoulderExtended elbowPronated wrist
What is the most organism responsible for neonatal sepsis?
GBS
What are features of neonatal sepsis?
Respiratory distress - grunting, nasal flaring, tachypnoeaApnoeasFeverReduced toneJaundiceSeizuresPoor feedingVomiting
How is neonatal sepsis managed?
IV Benzylpenicillin + Gentamicin (suspected or confirmed neonatal sepsis)
What are causes of persistent or severe neonatal hypoglycaemia?
Preterm birthMaternal DMIUGRHypothermiaNeonatal sepsisInborn errors of metabolismNesidioblastosisBeckwith-Wiedemann syndrome
How can neonatal hypoglycaemia present?
IrritabilityTachypnoeaPallorPoor feedngDrowsinessHypotoniaSeizures
How is neonatal hypoglycaemia treated?
Encourage normal feedingIf severe (less than 1) IV 10% dextrose
What is hypoxic ischaemic encephalopathy? What are the causes?
Damage to brain due to hypoxia during birthMaternal shockIntrapartum haemorrhageProlapsed cordNuchal cord (cord wrapped around neck of baby)
How can the risk of hypoxic ischaemic encephalopathy be reduced?
Therapeutic hypothermia after birth
When is jaundice pathological in neonates?
If it presents in first 24 hours of lifeIf it is prolonged (more than 14 days in term babies, more than 21 days in preterm babies)
What are causes of neonatal jaundice?
Can be split into causes which cause increased bilirubin production, and causes which cause decreased clearance of bilirubinIncreased production = haemolytic disease, ABO incompatibility, haemorrhage, cephalohaematoma, polycythaemia, G6PDDecreased clearance = prematurity, breast milk jaundice, neonatal cholestasis, biliary atresia, hypothyroidism, Gilbert syndrome
What is classed as prolonged jaundice?
> 14 days in term neonates>21 days in preterm neonates
What is kernicterus? How can it present?
Brain damage due to excessive bilirubin - Bilirubin can cross the BBBFloppy, drowsy babyPoor feeding
What are risk factors for necrotising enterocolitis?
VLBW // very pretermFormula fedRespiratory distressSepsisPDA
How does necrotising enterocolitis present?
Intolerance to feedsGreen bilious vomitingDistended, tender abdomenAbsent bowel soundsBlood in stools
What is seen on Abdominal XR in necrotising enterocolitis?
Dilated loops of bowelBowel wall oedemaPneumatosis intestinalis (gas in bowel wall)Pneumoperitoneum (free gas in peritoneal cavity)Football sign = air outlining the falciform ligamentRigler sign = air both inside and outside of the bowel
How is NEC managed?
NBMIV Fluids TPNSurgery
What are causes of bilious vomiting in neonates?
Necrotising enterocolitisDuodenal atresiaMeconium ileus
Neonate will double bubble sign on abdominal XR?
Duodenal atresiaDouble bubble sign = dilation of both the duodenum and the stomach.
Bilious vomiting in a neonate with CF?
Meconium ileus
Neonate with persistent salivation/drooling?
Oesophageal atresia
What are features of fetal alcohol syndrome?
MicrocephalyThin upper lipSmooth, flat philtreShort palpebral fissureLearning disabilityBehavioural difficultiesHearing + vision problemsCerebral palsy
What are features of congenital rubella syndrome?
Congenital cataractsCongenital heart diseaseLearning disabilityHearing loss
What are features of congenital varicella syndrome?
Fetal growth restrictionMicrocephalyHydrocephalusLearning difficultyLimb hypoplasiaScarring/skin changes in the dematomesCataracts
What is Exomphalos/Omphalocele and Gastroschisis?
Exomphalos/Omphacele = abdominal contents protrude through the umbilical ring - covered with a transparent sacGastoschisis = abdomianl contents protrude through defect in anterior abdominal wall - no covering sac
What are causes of jaundice presenting within the first 24 hours of life? How should it be investigated?
Investigate with a blood film analysis Rhesus haemolytic disease (RHD)ABO incompatibilityGlucose-6-phosphate dehydrogenase (G6PD) deficiencyhereditary spherocytosis
How does malrotation present?
Bilious vomitingHaemodynamic instability
What is seen on abdominal XR in meconium ileus?
Air-fluid levels
How does meconium ileus present?
Failure to pass meconium within 48hrsBillous vomitingAbdominal distension
How does meconium aspiration syndrome present?
Respiratory distress| Patchy infiltrates on CXR
What is transient tachypnoea of the newborn and how does it present?
Most common cause of respiratory distress in the newborn periodDelayed resorption of fluid in the lungsLow oxygen sats at birthResolves within a couple of days
What is seen on CXR in transient tachypnoea of the newborn?
Hyperinflation of the lungs| Fluid in the horizontal fissure
Duodenal atresia vs. Malrotation
Both present with billous vomiting Duodenal atresia = few hours after birthMalrotation = 3-7 days after birth + signs of haemodynamical instability
How is malrotation managed?
Ladd’s procedure
How does the abdomen feel in duodenal atresia?
Soft, distended
How does meconium aspiration syndrome present?
Respiratory distress| Patchy infiltrates on CXR
What is transient tachypnoea of the newborn and how does it present?
Most common cause of respiratory distress in the newborn periodDelayed resorption of fluid in the lungsLow oxygen sats at birthResolves within a couple of days
What is seen on CXR in transient tachypnoea of the newborn?
Hyperinflation of the lungs| Fluid in the horizontal fissure
Congenital infection: Sensorineural deafness + congenital cataracts + congenital heart disease (E.g. PDA)?
Rubella
Congenital infection: Cerebral calcification + Chorioretinitis + Hydrocephalus
Toxoplasmosis
Congenital infection: Growth retardation. + Purpuric skin lesions
Cytomegalovirus
What does neonatal resp distress + fluid in the horizontal fissure suggest?
Transient tachypnoea of the newborn
How do you investigate a child under 6 months with their first UTI? (Not atypical or recurrent, responds well to treatment)
Abdominal ultrasound within 6 weeks
How do you investigate a child over 6 months with a recurrent UTI?
Abdominal ultrasound within 6 weeksDMSA scan within 4-6 months
How do you investigate a child over 6 months with an atypical UTI?
Ultrasound during illnessDMSA 4-6 months after illness
How do you investigate a child under 6 months with a recurrent UTI?
Ultrasound during illnessDMSA 4-6 months after illnessMCUG
`How do you investigate a child under 6 months with an atypical UTI?
Ultrasound during illnessDMSA 4-6 months after illnessMCUG
What is classed as an atypical UTI?
Seriously ill poor urine flowabdominal or bladder massraised creatininesepticaemiafailure to respond to treatment with suitable antibiotics within 48 hoursinfection with non-E. coli organisms
How does nephrotic syndrome present in children?
Frothy urineGeneralised oedema - peripheral, ascites, periorbital, pulmonaryPallorLow serum albuminHigh urine proteinOedema
What blood results are seen in nephrotic syndrome?
Low serum albuminIncreased cholesterol and lipids
What is the main complication of nephrotic syndrome?
Hypercoagulability causes increased risk of DVT and PE
What is the most common cause of nephrotic syndrome in children?
Minimal change disease
How is minimal change disease managed?
Oral prednisoloneIf steroid resistant -> ACEi/immunnosuppresants
What is the first line treatment for nocturnal enuresis after all lifestyle measures have been trialled?
Under 7 -> enuresis alarmOver 7 -> desmopressin
Which type of polycystic kidney disease presents in neonates?
Autosomal recessive PKD
What are features of autosomal recessive PKD?
Can be seen on antenatal scans with:enlargement of collecting ductsOligohydramniosPulmonary hypoplasia (due to oligohydramnios)Potter syndrome Congenital liver fibrosis
What is a Wilm’s tumour and how does it present?
Specific type of tumour which affects the kidney in childrenMass in abdomenAbdominal painHaematuria LethargyWeight lossFever
How is a Wilm’s tumour diagnosed?
Abdominal ultrasoundUse MRI/CT to stage
How is a Wilm’s tumour treated?
Nephrectomy
What is a posterior urethral valve?
Tissue at the proximal end of the urethra, causing obstruction of urine outflow and build up in the bladderLeads to back flow to the kidney (Hydronephrosis)
How does a posterior urethral valve present?
Presents antenatally with oligohydramnios and pulmonary hypoplasia
How do you manage a neonate with undescended testes?
Watch and wait - most will descend by 3-6 months If not descended by 6 months - referral needed
What is hypospadias? How is it treated?
Congenital abnormality of the penis Urethra is displaced towards the scrotumTreated with corrective surgery at 12 months age
What is a hydrocele and how does it present? When are they normal?
Collection of fluid within the tunica vaginalisSoft, smooth non-tender swellingTransilluminatesCommon in newborn malesShould absorb by 2 years of age
What is the first line management of DKA in a child?
Resus fluid of 10ml/kg over 10 mins
How can adrenal insufficiency present in a child?
LethargyVomitingPoor feedingHypoglycaemiaJaundiceFailure to thrive
What are lab results in primary adrenal insufficiency (Addison’s)?
Low cortisolLow AldosteroneHigh ACTHHigh Renin
What are lab results in secondary adrenal insufficiency (due to pituitary)?
Low cortisolLow ACTHNormal aldosterone + Normal renin (Aldosterone is produced independently of the pituitary/hypothalamus)
What is congenital adrenal hyperplasia?
Congenital deficiency of 21-hydroxylase
What is the hereditary pattern of congenital adrenal hyperplasia?
Autosomal recessive
How does congenital adrenal hyperplasia affect hormone levels?
Low cortisolLow aldosteroneRaised androgens (testosterone)
How does a severe case of congenital adrenal hyperplasia present?
Presents in neonatal periodHyponatraemiaHyperkalaemiaHypoglycaemiaPoor feeding, dehydration, vomitingIn females - ambiguous genitalia
How does mild congenital adrenal hyperplasia present?
Presents during childhood/after pubertyFemales - tall for age, facial hair, best periods, deep voiceMales - tall for age, deep voice, large penis, small testicles Early puberty in both girls and boys
How is congenital adrenal hyperplasia treated?
Lifelong hydrocortisone + fludrocortisone
How does growth hormone deficiency present?
Presents at birthHypoglycaemiaSevere jaundiceMicropenis (in boys)If presents later in life - poor growth, short stature, slow development of movement, delayed puberty
How is growth hormone deficiency investigated?
Growth hormone stimulation test (with glucagon/insulin)MRI BrainXray of wrist to determine bone age
How is growth hormone deficiency managed?
Daily SC growth hormone (Somatropin)
How does puberty progress in girls?
Breast buds –> Pubic hair –> menstruation
How does puberty progress in boys?
Testicles enlargement –> Penis enlargement –> Scrotum darkening –> Pubic hair –> Deepening of voice
What age should delayed puberty be investigated in girls?
13
What age should delayed puberty be investigated in boys?
14
What are the different types of juvenile idiopathic arthritis? (5)
SystemicPolyarticularOligoarticularEnthesitis-relatedPsoriatic
How does systemic juvenile idiopathic arthritis present? What is seen on blood tests?
AKA Still’s diseaseSalmon-pink rashHigh swinging feversLymphadenopathyJoint inflmmation+painWeight lossSPlenomegalyRaised ESR and CRPRaised ferritin, raised platelets
What is the most important complication of systemic juvenile idiopathic arthritis?
Macrophage activation syndromeSevere activation of the immune systemCauses an acutely unwell child, DIC, non-blanching rashLOW ESR
How is juvenile idiopathic arthritis managed?
NSAIDsSteroidsDMARDsBiologics
What is Henoch-Scholein purpura and what are the four classic features?
A type of IgA vasculitis1. Purpura2. Joint pain3. Abdominal pain (GI haemorrhage, intussusception, bowel infarction)4. Renal involvement (IgA Nephritis - haematuria, proteinuria)
How is Henoch-Schonlein purpura diagnosed?
Need to exclude other more serious causes of purport - meningococcal septicaemia, leukaemia, ITP, HUSDiagnosis = urine dip, U+E, BP
How is Henoch-Schonlein purpura managed?
Mainly supportive
What is Kawasaki disease and what are the features?
A systemic medium-sized vasculitisPersistent high fever (more than 5 days)Widespread erythematous maculopapular rashPeeling skin on palms and solesStrawberry tongueCracked lipsCervical lymphadenopathyBilateral conjunctivitis
How is Kawasaki disease managed?
High dose aspirin (reduces risk of thrombosis)IV immunoglobulins (reduces risk of coronary artery aneurysm)
What is a key complication of Kawasaki disease?
Coronary artery aneurysm Needs monitoring with echos
Which virus causes hand, foot and mouth disease?
Coxsackie A virus
How does hand, foot and mouth disease present?
Starts as an upper respiratory tract infection- sore throat,t dry cough, feverThen after 1-2 days - small mouth ulcersBlistering red spots mostly on hands, feet and around mouth
How is hand foot and mouth disease managed?
Supportive
How can you differentiate between a nappy rash and a candida infection?
Signs that point to candida = Rash extending into the skin foldsWell demarcated borderCircular pattern - similar to ringwormSatellite lesions
How does Scabies present?
Incredibly itchy small red spotsTrack marks where the mites have burrowed - classically between the fingers
How is Scabies managed?
1st line = Permethrin creamAll household and physical contacts must be treated
What is crusted scabies and how is it treated?
Crusted skin with scabiesOccurs in immunocompromised patientsTreated with ivermectin
What is the most common causative organism of impetigo?
Staph aureus
How does impetigo present?
Golden crusted lesions typically around the mouth
How is impetigo managed?
1st line = Hydrogen peroxide 1% creamTopical fusidic acid is an alternativeIf widespread = oral flucloxacillin
How long do children with impetigo need to be kept off school?
Until lesions are crusted and healed , or 48 hours after starting treatment
What virus causes Roseola?
Human herpesvirus-6 (HHV-6)
How does Roseola present?
High fever that comes on suddenly, lasts for 3-5 days then disappearsThen an erythematous macular rash for 1-2 days Often diarrhoea/vomitingFebrile convulsions can occur
How does measles present?
Prodrome of fever, coryza and conjunctivitisKoplik spots - spots on Buccal mucosa. Pathogenomic for measlesErythematous macular rash which starts on the face - classically behind the ears
What are complications of measles?
Otitis mediaPneumoniaEncephalitisMeningitisHearing lossVision lossDeath
How does rubella present?
Milder erythematous rash than measlesStarts on face then spreads to bodyLymphadenopathy
How does a Parvovirus B19 infection present?
“slapped cheek syndrome”Starts with mild fever, coryza and non-specific viral symptomsThen a few days later - bright red rash on both cheeksThen a reticular (net-like) erythematous rash on trunk and limbs
When is Parvovirus B19 infection infectious? (Slapped cheek syndrome)
Prior to rash forming - not once rash has formed
What are complications of Parvovirus B19?
Aplastic anaemia - especially in those with sickle cell anaemia, thalassaemia, and haemolytic anaemias Encephalitis/meningitis
What is the most common complication of chickenpox?
Secondary bacterial infection of the lesions
What is Perthe’s disease? Who does it most commonly affect?
Disruption of the blood flow to the femoral head - leads to avascular necrosis Boys aged 4-8
What is the long-term affect of Perthe’s disease?
Over time, re-vascularisation of the femoral head leads to early hip osteoarthritis
How does Perthe’s disease present?
Gradual onset of…Pain in the hip/groinLimpingRestricted hip movement
How is Perthe’s disease diagnosed?
XR may be normal but can show sclerosis and fragmentationMay also show widening of joint space and decreased femoral head size If XR is normal can do an MRI
How is Perthe’s disease managed?
If less than 50% of the femoral head is affected - conservative managementIf more than 50% affected - plaster castMay need surgical management
What is developmental hip dysplasia?
Structural abnormality of the hipsCaused by abnormal development of fetal bones during pregnancyTendency for dislocation
What are risk factors for developmental hip dysplasia?
1st degree family historyBreech presentation from 36 weeksBreech presentation at birthMultiple pregnancy
What 2 special tests can be used to diagnose developmental hip dysplasia?
Ortolani testBarlow test
How is developmental hip dysplasia managed?
<6 months = Pavlik harness>6 months = surgery
What is Rickets?
Defective bone mineralisation caused by a deficiency of vitamin D or calcium, leading to soft/deformed bones due to secondary hyperparathyroidism
What are risk factors for Rickets?
Dark skinColder climateSpend a lot of time indoors
What are symptoms of Rickets?
LethargyBone painBone deformityPoor growthmay be symptoms of high serum calcium - stones
What bone deformities are seen in Rickets?
Bowing of legsKnock kneesRachitic rosary
What blood tests should be conducted in suspected Rickets?
Serum 25-hydroxyvitamin DLow calciumLow phosphateIncreased ALPIncreased PTH
How is Rickets managed?
Vitamin D supplementation
What is Achondroplasia? What is the hereditary pattern?
Most common cause of dwarfismAutosomal dominant
What are features of Achondroplasia?
Short limbs + short digitsNormal trunk lengthLarge headFlattened mid-face + nasal bridgeForamen magnum stenosis
What is osteogenesis imperfecta? How does it present?
A genetic condition causing brittle bones which are prone to fracture Recurrent inappropriate fracturesBlue/grey scleraHypermobilityDeafnessDental imperfections
What is slipped upper femoral epiphysis? How does it present?
When the head of femur slips along the growth plateMore common in obese children May be some trauma that triggered onset of symptomsPain is disproportionate to severity of traumaRestricted range of movement - Loss of internal rotation Painful limp
How is slipped capital femoral epiphysis diagnosed?
AP and lateral Xrays
How is slipped capital femoral epiphysis managed?
Internal fixation with a single cannulated screw
What is transient synovitis? How does it present?
Acue hip pain following a recent viral infectionLimp/inability to weight bearGroin/hip painLow grade feverSelf-limiting
When might you consider septic arthritis over transient synovitis?
High grade fever warrants investigation for septic arthritis
What are features of Down’s syndrome?
Face = upslanting palpebral fissures, prominent epicanthic folds, brush field spots in iris, protruding tongue, small low set ears, flat occipitalSingle palmar creaseSandal gapHypotonia
What are cardiac associations with Down’s syndrome?
Ventricular septal defectAtrial septal defectAV septal canal defectTetralogy of FallotPDA
What are long-term complications of Down’s syndrome?
SubfertilityShort statureRecurrent otitis mediaIncreased risk of ALLHypothyrodismAlzheimer’sLearning disability
What are clinical features of Klinefelter’s syndrome?
Lack of secondary sexual characteristicsTaller than averageSmall testiclesInfertilityGynaecomastia (increased risk of breast cancer)LH and FSH = High
Are LH and FSH high or low in Klinefelter’s?
High
What are features of Turner syndrome?
Short statureWebbed neckWidely spaced nipplesPrimary amenorrhoeaHigh-arched palateCubitus valvesLymphoedema as a neonate (esp of feet)
What are associated conditions with Turner Syndrome?
Bicuspid aortic valveCoarctation of the aortaRecurrent otitis mediaRecurrent UTI
What hereditary pattern does Noonan syndrome have?
Autosomal dominant
What are features of Noonan syndrome?
Short statureWebbed neckWidely spaced nipplesBroad foreheadDownward facing eyesLow set earsTriangular facePtosis
What conditions are associated with Noonan Syndrome?
Congenital heart disease - esp pulmonary valve stenosisUndescended testesLearning disabilityCoagulation problems
What hereditary pattern does Marfan syndrome have?
Autosomal dominant
What are features of Marfan syndrome?
Tall statureLong neckLong limbsLong fingersHigh arched palateHyper mobilityPectus excavatumPes planus (flat foot)
What conditions are associated with Marfan syndrome?
Upward lens dislocationDilation of aortic sinuses - can lead to aortic aneurysm/dissection/regurg Mitral valve prolapse - can lead to mitral regurgitationRecurrent pneumothoraxScoliosisDuctal ectasia
What medication can be used in Marfan syndrome to reduce morbidity/mortality?
Beta blocker or ACEi
What are features of Fragile X Syndrome?
Intellectual disabilityLong thin faceLarge earsHigh arched palateLarge testiclesHyper mobilityAutism/ADHDHypotonia
What are features of Prader-Willi Syndrome?
Constant insatiable hunger leading to obesityHypotonia as a babyShort statureHypogonadismLearning difficultiesAlmond shaped eyesBehavioural problems
What medication can be used in Prader Willi Syndrome?
Growth hormone
What are features of Angelman Syndrome?
Delayed developmentIntellectual disabilitySevere delay or absence of speech develop,entFascination with waterHappy demeanourWidely spaced teethInappropriate laughter
What are features of Edward’s syndrome?
Micrognathia (small lower jaw)Low set earsRocker bottom feetOverlapping of fingers
What are features of Patau syndrome?
MicrocephalySmall eyesCleft lip/palatePolydactylyScalp lesions
What are features of William syndrome?
Broad foreheadStarburst eyesFlattened nasal bridgevery friendly and sociableWide mouth - big smileSmall chin
What conditions are associated with William Syndrome?
Supravalvular aortic stenosisHypercalcaemiaADHDHypertension
What are complications of Fragile X syndrome?
Mitral valve prolapsePes planusAutismMemory problemsSpeech disorders
When should an infant be able to sit without support?
7-8 months
When should you refer a child for not being able to sit without support?
12 months
When should an infant be able to walk unsupported?
13-15 months
When should you refer an infant for not being able to walk unsupported?
18 months
When should a child be able to run?
2 years
When should a child be able to hop on one leg?
4 years
When does an infant develop pincer grip?
12 months
What are the ages for making a tower of 2, 3, 6 and 9 bricks?
2 bricks - 15 months3 bricks - 18 months6 bricks - 2 years9 bricks - 3 years
What does hand preference prior to 12 months suggest?
Cerebral palsy
When should an infant be able to say mama and dada?
By 9 months
When should an infant smile by?
6 weeks
When should you refer an infant for not smiling?
At 10 weeks
What are causes of global developmental delay?
Down’s syndromeFragile X syndromeFetal alcohol syndromeRett syndrome
What are causes of gross motor delay?
Cerebral palsyAtaxiaMyopathySpina bifidaVisual impairment
What are causes of fine motor delay?
Cerebral palsyDyspraxiaMuscular dystrophyVisual impairment
What are causes of language delay?
Hearing impairmentSocial circumstancesNeglectAutism
What are causes of social delay?
Neglect| Autism
What is the first line management for ADHD?
Methylphenidate
What are side effects of methylphenidate?
Abdominal painNauseaDyspepsia Weight loss Growth retardation