Paediatrics Flashcards
Mechanism of bilirubin production
Heme in Hb - biliverdin - bilirubin (and albumin) - liver - conjugated with glucuronide then excreted into SI, taken up into blood - urine - urobilirubinogen or metabolised by bacteria - stercobilin
Bilirubin effect on brain
Kernicterus - acute bilirubin encephalopathy, crosses bbb and stains basal ganglia causing permanent damage
Features of kernicterus
Lethargy, poor feeding, irritable, shrill cry
Hypertonic - opisthotonos
Seizures, coma
When does bilirubin start having an effect
When unconjugated bilirubin level > albumin binding capacity
Only when young as bbb matures quickly so higher levels can be tolerated better
Complications of kernicterus
Choreoathetoid cerebral palsy
Learning difficulties
Sensorineural deafness
Bilirubin level which is jaundice
> 80umol/l
3 categories of jaundice causes and examples of each
Increased haemolysis - rhesus incompatibility, ABO incompatibility, G6PD, spherocytosis, sepsis
Decreased secretion - liver dysfunction/post hepatic
Dehydration
What is ABO incompatability caused by and features
some group O women have IgG anti-A-haemolysin which crosses placenta
Hb normal or slightly reduced, no splenomegaly
G6PD - who and what to do
Avoid some drugs
Mediterranean, East, Africa
Causes of sepsis in neonatal jaundice
GBS - ascending infection, PROM, prematurity
TORCH screen
Features of liver dysfunction/post hepatic neonatal jaundice
Chalky pale stools
Conjugated bilirubin collects in liver and damages
Check for dehydration in neonatal jaundice?
7-8 nappies a day
Mucous membranes
Weight loss
Assessing neonatal jaundice
Preterm Septic/unwell Family history Maternal blood group Maternal infection Extent - how much of body, rate of rise (>10mmol/h = concerning), transcutaneous screening tool on sternum, sx (sleepy, poor feeding - phototherapy if sx)
Inv neonatal jaundice
Transcutaneous bilirubin
FBC and blood film for reticulocytes and fragmented cells
Blood group and DCT
Bilirubin - conjugated accumulates in liver and damages
Sepsis inv
Causes of baby jaundice >1d
Physiological
Infection
Haemolysis
Crigler-Najjar - decreased conjugation of bilirubin and glucuronic acid in liver
Why physiological jaundice - 5
Immature enterohepatic circulation - reduced conjugations
High Hb conc as physiolgical Hb release
RBC life span shorter than for adults (70d vs 120)
Reduced gut flora - reduced bile pigment elimination
Breastfed - dehydration - reduced elimination
5 causes of prolonged jaundice
Breast milk jaundice - unconjugated, fades by 4-5w Hypothyroid - unconjugated Infection - unconjugated Metabolic liver disease - conjugated Biliary atresia - conjugated
Features of hypothyroid in baby
Reversible neuro problems/developmental delay Dry skin, coarse facies Prolonged jaundice Constipation On Guthrie test
When is bilirubin conjugated in prolonged jaundice
Metabolic liver disease
Biliary atresia
What is biliary atresia
Angiopathy causes absence of hepatic bile ducts
Can cause toxic damage to liver cells and liver failure requiring transplant
Hepatosplenomegaly, dark urine, pale stools
Inv prolonged jaundice
Split bilirubin - conjugated vs unconjugated
Unconjugated high = breast fed or physiological
Conj shouldn’t be >10-20% total
Radionucleotide scan to see liver drainage
Manage biliary atresia causing prolonged jaundice
Kasai procedure creates bile duct from SI,, mostly successful if <60 days old
Manage prolonged jaundice
Phototherapy - blue light converts bilirubin to soluble products
Exchange transfusion if not improving with phototherapy or increasing rapidly. Warm blood, umbilical artery and vein
ADR of photherpay for jaundice - 4
Eye damage
Dehydration
diarrhoea
Difficult to control tempmerature
Sepsis screen in neonates
Urine
Blood cultures
LP
+- cxr
RF for neonatal sepsis - 5
PROM (>18h) Maternal inf Preterm labour Foetal distress Central line/catheter
Where does sepsis come from in neonate - 4
Environment
Placenta
Ascent from vagina
During birth
Early onset neonatal sepsis timing and bacteria
<48h of birth
E. coli and listeria
Late on neonatal sepsis timing and bacteria
> 48h
Staph a
E. coli
GBS
Presentation of neonatal sepsis
Labile temperature Lethargy Poor feeding Resp distress Collapse DIC
Line infection in neonatal sepsis
Coag neg staph
Manage sepsis in neonates
ABC Ventilation, inotropic, fluids FBC, CRP, glucose Cultures X-ray LP for culture, glucose, protein, WCC, gram stain Stool, throat, urine culture Abx: Early - benzylpenicillin and gentamycin - cefotaxime (meningitis). - amoxicillin (listeria - purulent conjunctivitis, maternal infection ) Late - fluclox and gentamycin, cefotaxime (meningitis)
Sensitising events for rhesus haemolytic disease
Threatened miscarriage
Amniocentesis
Chorionic villus sampling
Birth
Sx of rhesus haemolytic disease
Jaundice, kernicterus Yellow vernix CCF - oedema, ascites Hepatosplenomgaly Progressive anaemia, bleeding Hydrops fetalis - severely affected oedematous foetus with stiff, oedematous lungs
Manage rhesus disease
Inv:
- Check for anti-D antibodies in all rh- mothers at 28 and 34w
- May need foetal blood sampling and intraperitoneal transfusion if large number
- Regular USS and amniocentesis
Deliver baby before severe haemolysis
Trt:
- Exchange transfusion - remove maternal antibodies, if Hb <70
- Phototherapy
- Immunisation with anti-D antibodies at 28w, reduces need for exchange transfusion
- Maternal antibodies will persist for some time and continue to cause some haemolysis
What is respiratory distress syndrome
Deficiency in alveolar surfactant - atelectasis - resp failure - reduced CO, hypotension, acidosis, renal failure
Major factors in resp distress syndrome and why - 2
Premature - alveoli develop at 24w, surfactant at 24-36w with peak at 32w
C section - no stress response to encourage fluid reabsorption
Signs of RDS - 5
Increased work of breathing - nasal flaring, grunting, apnoea/dyspnoea Tachypnoea Chest wall recessions Cyanosis CXR - round glass, not hyperinflated
Differentials of RDS - 7
Transient tachypnoea of newborn - due to fluid, resolves in 24h Meconium aspiration Pneumothorax Diaphragmatic hernia CHD Metabolic acidosis Hypoxic-ischaemic encephalopathy
Treatment of RDS
Prevent with steroids if preterm birth risk
O2
Support resp eg CPAP, ventilation
Surfactant via NGT
Complications of RDS - 4
Chronic lung disease of prematurity
Retinopathy of prematurity
Infection or trauma secondary to incubation
Impaired head growth from steroids
What is chronic lung disease of prematurity and 2 complications
Still requiring o2 at >=36w gestational age or still requiring o2 after 28d
Bronchopulmonary dysplasia - injury to lungs from mechanical ventilation, or delayed maturation - wean slowly +- steroids
CXR - hyperventilated, reticular markings
- Necrotising bronchiolitis with alveolar fibrosis
- Cardiomegaly indicates high pulmonary pressure
- Pertussis and resp infections can cause resp failure - give RSV prophylaxis
Cause of retinopathy of prematurity, what it causes and prevention/trt
O2 and prematurity derange VEGF, causing vascular proliferation at junction of retina.
Causes retinal detachment, fibrosis, blindness, early glaucoma (in teens)
Prevent by running at lower O2, and treat with laser and intravitreal anti-VEGF
RF: premature, slow weight gain, low birth weight, anaemia, twin to twin transfusion (the donor), maternal smoking/drugs,
RF for meconium aspiration - 4
Post term
Chorioamnionitis
Maternal hypertension or pre eclampsia
Smoking or substance abuse
4 broad causes of hypoxic injury and presentation
Hypoxic-ischaemic encephalopathy, need resuscitation at birth
Mostly from problems in labour:
- uterus - excessive contractions
- cord - compression or prolapse
- placenta - poor function, pre eclampsia, abruption
- baby - cardioresp adaptation failure at birth
Effects of HIE - 3
Brain damage
Bradycardia
Liver, kidney, GI damage
Poor prognostic factors in HIE - 3
Slow rate of improvement
Irregular breathing at 30 mins
APGAR low at 20 mins
Manage HIE - 5
Resuscitate, ventilate
Hypothermia jacket (33.5) for 72h as long as:
1) >36w, 2) clinical evidence of deficiency (apgar), 3) cerebral function being monitored. = halves cerebral palsy rates, reduces delayed neuronal death in days after cytotoxic death
Fluid restriction as transient renal impairment
Inotropes and volume support for hypotension
Monitor hypoglycaemia and electrolytes - early feeding, monitor until BM >2.5 3 times
Mortality of prematurity
40% die on labour ward if <24w
95% disability if 23w
Causes of prematurity
Unknown cause - 40%
Smoking
Poverty
Malnutrition
Manage prematurity
Capable centre
O2 and ventilation - nasal, CPAP, mechanical
Temperature - plastic bag, incubator
Cannula as fluids lost through skin
NGT for small feeds - low birth weight formula if <2kg
- encourage day 1 expression from mum
- aim to remove by 36w
- nutritional supplements - vit D and iron, as got from placenta in 3rd trimester, phosphate to prevent osteopoenia
Monitor glucose
Weights of low birth weight, very low and extremely low
Low <2500g
Very low <1500g
Extremely low <1000g
Normal head and lengths at term
33cm head circ
50cm length
What is small for gestational age, 4 acute complications and long term risks
<10th percentile birth weight for gestational age
Risk: hypoglycaemia, hypothermia, foetal death, congenital infection
Long term - obesity and CHD
Types of iugr
Symmetrical - early pregnancy, head/abdo circs/length proportional
Asymmetrical - late pregnancy, head circ > abdo circ and length
Causes of IUGR - 4
Poverty
Twins
Congenital infection
Placental insufficiency
Complications of prematurity
Immature resp centre - bradycardia, apnoea, desaturate <32w
Hypothermia
Hypoglycaemia (<2.6) - give TPN and monitor BM for 1st 2 days. Feed early - most of growth in 3rd trimester
PDA
Infection - IgG mostly crosses placenta in 1st 6m, but can get GBS or nosocomial - coag neg staph or fungal
NEC
Preterm brain injury
Retinopathy of newborn
Bronchopulmoanry dysplasia
Cerebral palsy
OSteopoenia
What is NEC, sx, inv and treat, and long term outcome
Lack of bowel flora and immunoglobulins = bacterial invasion and ischaemia.
- more likely if not breast fed
- feed intolerance, vomiting, bile, distended abdo, blood in stool - perforate - shock
- can cause sepsis and death
- WCC raised, abn vital signs
Broad spec abx, parenteral nutrition, mech vent and circulatory support
Echo to check if reduced perfusion due to heart defect
Long term - strictures, malabsorption, poor neurodevelomental outcome
PDA? Sx, inv and treatment in newborn
Bradycardia, apnoea, difficult to wean off ventilation, bounding pulse, signs of HF
Investiate with echo
Close with ibuprofen or indomethacin (Pg synthetase inhibitor)
Why prematurity hypothermia and consequences
Large surface area, minimal sc fat, naked, thin skin
Can cause hypoxia, hypoglycaemia and unable to gain weight due to increased energy expenditure
What is preterm brain injury and what does it cause
IVH +- ischaemia of parenchyma
Blood vessels supplying ventricles very thin and cerebral blood flow not yet regulated so changes in systemic circ pressure can cause bleed
RF - RDS, pneumothorax
Causes hemiplegia, hydrocephalus (head circ increasing rapidly and bulging fontanelle)
What is cerebral palsy
Brain injury due to IVH - affects fine motor skills, conc, behaviour, abstract reasoning
Inv of osteopoenia of newborn and prevent
Raised ALP
Phosphate supplements to prevent if <1.5kg
Risk of GBS infection to baby
10% colonisation
20-30% of women are colonised
When to prevent GBS infection and how?
Proven in pregnancy, or high vaginal swab
- give IV penicillin durin labour
Presentation of GBS and manage
First 12h, with pneumonia, PPHN or septic shock
Give resp support and abx
What is in heel prick test and when
At 5d old
- Hypothyroid
- CF
- Sickle cell
- PKU
- MCADD
What to give on NNU discharge
Palivizumab - RSV prophylaxis
What is apnoea and causes
No resp effort for >20s, or less time if cyanosis and bradycardia
- Apnoea of prematurity - most common
- Central - less CNS stimuli to resp muscles - causing no airflow or chest wall movement
- Obstructive - pharyngeal instability/collapse, nasal obstruction. No airflow but have chest wall movement
- Mixed - 50% of term babies
Differentials of apnoea - 2
Normal neonatal periodic breathing - 3+ periods with no resp effort lasting 3+s in 20s periods, but no colour or hr change
Subtle seizures
Specific causes of apnoea
Apnoea of prematurity - from day 2-7 CVS - hypotension, hypertension, anaemia, PDA Resp - pneumonia, obstuction, RDS GI Infection CNS - IVH, seizure, hypoxic injury Metabolic Pain Meds - maternal, opiates, prostin Poorly positioned head and neck
Manage apnoea - 3 monitor, 3 treat
If under 34w, O2 sats monitor until had 1w with no episodes. >34w, only monitor if unstable
Apnoea monitor detects abdo wall movement
Ensure patent airway
Tactile stimulation - rub soles of feet
Positive pressure ventilation, high flow nasal cannula
Caffeine - relaxes SM and stimulates cardiac muscle and CNS
Rf for asthm
Low birth weight Family history Bottle fed Atopy Male Pollution
Features of asthma history
Wheeze more than once Night sx Sx between excerbations Triggers Atopy
Manage asthma
Salbutamol spacer 3x a week = add inhaled ICS Review diagnosis and check technique then - LABA and low dose ICS - increase ICS/LABA Montelukast (LTRA), theophylline Increase ICS again Specialist PO prednisolone
All - individual asthma plan and inhaler leaflet
Emergency asthma trt
O2 Salbutamol 5mg (2.5 if <5) nebs with 0.25mg ipratropium bromide 100mg hydrocortisone IV IV Mg Aminophylline Continuous nebs ITU
Asthma red flags
Tiring Hr >200 - senior review Hr dropping - crash call Absent breath sounds Neuro deterioration
When to discharge with asthma
Off o2 and inhalers >4h intervals
Instructions for inhaler <5yo
Spacer and mask
Aerosol so shake for 15s to mix with propellant
Tilt to open mask for babies
1 spray metered dose
Wait 10s or 10 breaths then repeat
Wash with warm soapy water and leave to dry and change every 6m
Inhaler for >5yo - 3 types
Turboinhaler: powder - suck
Easi-breathe: breath activated, doesn’t need coordination, can take top off and use as MDI in exacerbation
>10oy accuhaler metered dose inhaler
What is bronchiolitis
commonest lung inf in infants, exp prem and lung diseae
70% RSV
Bronchioles become infected and inflammed with increased mucus secretion so airways blocked
Presentation bronchiolitis
Mostly <6mo
Low grade fever and coryza then dry cough, fever, wheeze (high pitched, exp>insp), recession, increased rr
Can cause resp distress, low sats, nasal flaring
End insp crackles
Hyperinflation on cxr
Inv bronchiolitis
PCR nasopharyngeal secretions - aspirated
CXR to rule out pneumothorax
Bloods
ABG
Treat bronchioliiss
O2 if sats <92%
IV fluids or NGT
May need CPAP
Steroids and neb adrenaline but not routine
Isolate according to virus
No response to salbutamol as not bronchospasm
Palivizumab RSV monoclonal antibody in SCID, CHD, NNU as prophylaxis
What is CF
Aut recessive
Defective gene causing defective protein - CF transmembrane conductance regulator - abnormal Cl transport - sticky mucus builds up outside cell
Where does CF affect
Lungs- - mucus build up and impaired ciliary function
Pancreas - thick secretions block ducts - pancreatic enzyme def and malabsorption
Intestines - Thick meconium - meconium ileus
Sweat glands - salty
CF presentations - 4
Meconium illeus - bilious vomiting, abdo distension, delay in passing meconium
Recurrent chest inf
Intestinal malabsorption - pancreatic enzyme deficiency
Newborn screening
CF diagnosis
1 of: newborning screening OR sibling with CF
AND
1 of: increased sweat chloride conc OR 2 identified CF mutations OR abn nasal epithelial ion transport (nasal potential difference)
Manage CF
Monitor FEV1 for disease progression
Daily physio x2 and exercise
Neb DNAase or hypertonic saline to decrease viscosity of secretions for clearance
Neb pseudomonal antibodies if colonised
Prophylactic abx and rescue abx (PO then IV), central venous catheter if recurrent
Pancreatic enzymes - creon
Double lung transplant - last resort
High calorie diet (150%) - may need gastrotomy to achieve this
Lifestyle advice for CF
Avoid others with CF and infected people
Avoid stables or compost - aspergillus fumigated
Avoid jacuzzis - pseudomonas
NaCl tablets in hot weather/exercise
Annual flu vaccine
Clean and dry nebulisers thoroughly
Complications of CF - 5
Distal intestinal obstruction syndrome Recurrent resp infections, bronchiectasis, chronic lung disease Low body weight Infertility CF related diabetes
Manage low body weight in CF
Pancreatic enzyme replacement, high calorie, supplements, NGT/PEG
Diffference betweeen constipation and DIOS
DIOS - terminal ileum and prox colon obstuction instead of whole bowel - see faecal loading on axr, palpable mass in RIF = dehydrated thick faeces
Cause of DIOS in CF and treatment
Lack of pancreatic enzymes or non compliance
Hot weather/salt deficiency
Cleared with oral gastrograffin
Screening for CF
Guthrie - raised immunoreactive trypsinogen, then screened for common CF mutations. 2 = sweat test
= pilocarpine electrical stimulation and sweat collection
Viral wheeze timing
<2yo. Not by 5yo as immune to most viruses
Peaks at 5d then gets better by 7-10d, cough can last 4w
RF and features of viral wheeze
Smoking in pregnancy
Bronchiolitis as baby - makes airways hyperreaactive
Associated with RTi
Difference of bronchiolitis and wheeze
Fine insp crackles in bronchiolitis
Manage viral wheeze
Salbutamol +- steroids trial for 8w
Severe = neb salbutamol +- steroids and monitor
CXR to check for other cause if not improving, eg pleural effusion (USS)
Supportive - fluids, no resp distress, NGT to avoid exhaustion
Most common causes of pneumonia in children
Virus most common
Newborn - group b strep, gram neg enterococcus
Infants - RSV, H infl, strep pn, pertussis, staph a, chlamydia trachomatis
>5yo - strep pn, chlamydia trachomatis, mycoplasma pneumoniae
All ages - mycobacterium TB
Signs of pneumonia - 5
poor feeding malaise Resp distress Temp high (>39) End insp coarse crackles
Inv pneumonia kids
CXR
Sputum/blood culture
Treat pneumonia in kids
Mostly viral if <2yo - no abx
Abx - amoxicillin
Culture TB
Slow growing mycobacterium
Wait 6 weeks
Positivity low, especially in children
TB in body
Primary complex - heals or progresses
Disseminated = lung apices, meninges, spine, nodes - active or dominant
Extra-pulm, CNS and miliary more common in kids
Normally primary, not latent reactivation
Resistance in TB
MDR = to R and I XDR = to aminoglycosides and fluoroquinolones
Signs of TB - 5
Malaise Anorexia Failure to thrive Cough Low grade fever
Screen for TB
Screen for latent - Mantoux test - inject antigens intradermally and look for induration >5mm in 48-72h = type 4 sensitivity reaction
- Can be false pos if recent vaccine or active TB
- Can be false neg if <6mo
Interferon gamma release assays - false negs <5yo
CXR if either positive
Diag TB
Culture and Ziehl-Neelson stain of sputum x3 - aspirate <5yo in morning as no sputum production
CXR
Treat TB and prevention
Rifampicin - 6m
Isoniazid - 6m
Pyrazinamide - 2m
Ethambutol - 2m
CNS - dexamethasone and 12m abx - check LFT, eyes and HIV first
Latent - R and I for 3m as 10% chance of activation
Prevention - BCG 65-70% effective, mostly against more severe miliary and CNS
What is whooping cough and signs
Bordatella Pertussis, infants or >14yo, droplet spread with 10-14d incubation
Week of coryza then spasmodic cough (can last 100), with inspiratory whoop (insp against closed glottis)
Vomiting
Worse at night or after feeds, better when crying
Diagnose whooping cough
PCR nasal swab
Complications of whooping cough
100d cough Pneumonia Severe and fatal if <6mo Petechia on cheeks Conjunctival/retinal bleed, seizures, hypoxic encephalopathy from coughing
Manage whooping cough
Macrolide - erythromycin, within 21d of onset
Notifiable
Admit if <6m and severe spasms, cyanosis attacks
Upper airway obstuction acute managemet
Calm
Don’t examine throat
Organised
Observe for hypoxia or deterioration
Neb adrenaline and alert anaesthetist if severe
Tracheal injubation if resp failure from secretions, obstruction or exhaustion
Features of common cold and trt
Clear or purulent nasal discharge and blockage
Persistent cough for 4w
Viruses - rhinovirus, coronovirus, RSV
Reassure parents, paracetamol, ibuprofen
Most common cause of sore throat
Pharyngitis - inflamed pharynx and soft palate
Local nodes enlarged and tender
Viruses - adenoveritus, enterovirus
Older - group a B-haemolytic strep
What is croup, main danger, cause and age range
Laryngotracheobronchitis
Mucosal inflammation and increased secretions
Most dangerous = oedema in supraglottic area which can cause narrowing of trachea
95% viral - parainfluenza, RSV
6m-6yo in autumn
Signs of croup
Fever and coryza, onset over days, then -
Barking cough
Harsh stridor and hoarseness. If at rest = bad
Sx worse at night
Resp distress
Manage croup
Admit if <12m, upper airway obstuction or unsure about diagnosis
Steroids - oral and neb reduce severity and duration
Neb adrenaline if stridor at rest
O2 if agitated
Differentials for croup and key differences
Bacterial trachietis - staph a, pseudomembranous, high fever, toxic, rapidly progressive obstruction
Acute epiglottitis - over hours, cannot drink, salivating, toxic and very ill, temp 38.5, muffled voice, soft whimpering stridor
What is acute epiglottitis
Life threatening emergency
Intense swelling of epiglottis and surrounding tissues by H influenzae B
Sx of epiglotitis
No cough Very painful throat - can’t swallow or speak Very ill and acute Temp >38.5 Soft inspiratory stridor Drooling Distress
Manage epilottitis
Urgent admission and contact anaesthetist, paediatrician, ENT
ICU
Intubate under GA or tracheostomy
Blood cultures and IV cefuroxime/ceftriaxone
Causes of wet cough
<6yo
Acute - viral, bacteria, pertussis
Subacute - 3-8w, should be resolving
- post-viral, or pneumonia
Chronic >8w
- bronchiectasis: CF, primary ciliary dyskinesia, untreated infection (ISS), persistent collapse
- persistent bacterial bronchitis - ?primary ciliary dyskinesia
- recurrent aspiration
- immune problem - recurrent/unusual infections
What is linked to neonatal rhinitis and bronchitis?
Kartagener syndrome - primary ciliary dyskinesia:
1) sinusitis - neonatal rhinitis, persistent nasal discharge
2) bronchitis
3) dextracardia
Heterogenous genetic make up and manifestation
Assoc with CHD, asplenia, hydrocephalus, renal disease
Causes of pleural effusions - 3
Infectious - parapneumonic (pneumonia, lung abscess, bronchietasis),
- non-TB bacterial pneumonia - staph a, strep pn, h infl (<5yo), group a strep (>5)
- CXR if pneumonia and not improving after 48h of treatment
Malignancy
Congestive heart failure
3 stages of parapneumonic effusion
- Exudative - clear fluid from pneumonia, low WCC
- Fibropurulent - complicated - deposition of fibrin in pleural space causing septations and loculations
- increased WCC
- thickened fluid = pus (empyema) - Organisational - fibroblasts infiltrate and intrapleural membranes are reorganised to become thick and nonelastic
- prevent re-expansion
- impair function
- persistent pleural space with potential for infection
- spontaneous healing or chronic empyema
Investigate pleural effusion
CXR Confirm on chest USS Blood culture including anaerobes Sputum culture FBC - anaemia, WCC, platelets Electrolytes - SIADH? Antistreptolysin O titre Diagnostic tap if suspect malignancy, pleural fluid microbiology Chest CT if plan to operate
Manage pleural effusion
IV abx then PO
Chest drain
Intrapleural fibrinolyic is complicated effusion
Inhaled foreign body - features and inv
Average 3yo
Quick onset, choke, cough
CXR - shadowing, compare insp and exp film to see what’s not deflating (blocked)
Bronchoscopy to identify object
Positive cardiac screening
RR >60 Apnoea >20s at a time or with cyanosis Recession, nasal flaring Cyanosis Visible pulsation, heaves, thrills on precarious Murmur - absent if large defect Absent/weak femoral pulses Pulse ox at 6-12h - inv if difference between limbs >2% or o2<95% (esp in otherwise well child)
RF for cardiac disease - 5
Antenatal scans or genetic abnormalities Family history Teratogens or substances Conditions - epilepsy, diabetes, SLE Viruses in 1st trimester
Circulatory changes at birth
Before birth, LA pressure is low as minimal blood return from lungs, so blood shunts through foramen ovale from RA to LA
At birth, resistance to pulmonary flow decreases so blood goes here from RA, then LA pressure increases, closing FO
Ductus arteriosus closes in first hour so f lif - prevent with prostaglandins (prostin), close with NSAIDs (ibuprofen)
Signs of innocent murmur
[4S] Systolic left Sternal edge aSymptomatic Soft Gone by 24hold, often heard in febrile illness or anaemia due to increased CO
Signs of pathological murmur and inv
Loud, wide area, harsh, other findings
Echo, CXR, ECG
Which heart abnormalities are critical and why
PDA dependent - baby will deteriorate when it closes around 2d old:
- pulmonary atresia
- hypoplastic left heart
- tetralogy of fallot
- transposition of great arteries
- tota anomolous pulmonary venous drainage (into RA)
- tricuspid atresia
- truncus arteriosus
What murmur is diastolic, left sternal border machinery
PDA
Which murmur is ejection systolic, fixed splitting of 2nd heart sound
ASD
Which murmur is pansstolic, lower left sternal border
VSD
Which murmur is ejection systolic, upper left sternal border
Pulmonary stenosis
Which murmur is upper left border, crescendo decrescendo
Coarctation of the aorta
ASD murmur and sx
Ejection systolic upper left sternal edge, fixed splitting of 2nd heart sound
Apical pancystolic murmur from AV regurg if partial AVSD
Often asymptomatic, may have recurrent chest inf/wheeze or arrhythmias in adulthood
VSD murmur
Pansystolic, left lower sternal border
PDA murmur, pulse and complications
Machinery, diastolic, upper left sternal border beneath left clavicle
Increased pulse pressure - bounding
HF and pulmonary htn
>1m after EDD = persistent PDA
Pulmonary stenosis murmur
Ejection systolic
Upper left sternal border
Coarctation of the aorta murmur
Crescendo decrescendo
Upper left sternal border
Aortic or pulmonary stenosis presentation in child
Normally well
2 CHD causes of sick neonate collapsed with shock
Coarctation
Hypoplastic left heart
3 Causes of left to right shunt and presentation
Breathless or asymptomatic
ASD, VSD, PDA
CHD causing breathless but not cyanosis child
Left to right shunt - ASD, PDA, VSD
CHD causing blue child
Right to left shunt
- Tetralogy of fallot, TGA
Mixing: AVSD, complex congenital heart disease
Symptoms of heart faiure in child
Breathless. Increasing on exertion or feeding
Sweating
Poor feeding - interrupted - sweat, become breathless and pale
Vomiting
Recurrent chest infections
Palpitations or chest pain
Signs of HF in child
Tachycardia, tachypnoea Peripheral cyanosis Poor weight gain Murmur or gallop rhythm Hepatosplenomegaly
Causes of heart failure in infant - 4
Obstructed duct dependent circulation
- hypoplastic left heart,
- critical aortic valve stenosis,
- severe coarctation,
- interruption of aortic arch
Causes of heart failure in child - 3
Left to right shunt - ASD, VSD, large PDA
Causes of heart failure in adoelscent - 3
Eisenmenger
Rheumatic fever
Cardiomyopathy - unexplained deaths in family <30yo? Pacemakers <50yo?
Presentation of CHD
Antenatal USS 18-20w then detailed echo Murmur HF Shock Cyanosis
Causes of CHD
Maternal disorder - diabetes, SLE, rubella
Maternal drugs - warfarin, foetal alcohol syndrome
Chromosomal - Down’s, Edwards, Patau’s, Turner’s
Inv PDA
CXR and ECG normal
Echo to visualise duct
Close PDA and why
Decrease risk of bacterial endocarditis and pulmonary vascular disease
With coil or occlusion device around 1y
NSAIDs
2 types of ASD
Secundum - centre of septum, involves foramen ovale
Primum - partial AVSD - between bottom of atrial septum and AV valves, abnormal valves
Inv ASD
CXR - cardiomegaly, enlarged pulmonary arteries, increased pulmonary vascular markings
ECG - secundum = partial RBBB and right axis deviation, from RV enlargement
Echo - anatomy. Main diagnostic tool
Manage ASD
Treat if causing RV diataion
Secundum - cardiac catheterisation and occlusive device
Primum - surgical correction
Treat at 3-5yo to prevent RHF and arrhythmias
VSD - what is small? Sx and inv and trt of small VSD
<3mm = small
Asymptomatic
Loud pansystolic murmur at lower left sternal edge, quiet P2
ECG and cxr normal, echo shoes abnormality
Close spontaneously
Prevent bacterial endocarditis by good dental hygiene
Large VSD sx, inv, treat
Same size or bigger than aortic valve
HF with SOB and failure to thrive, recurrent chest infections. Always cause pulmonary hypertension
Signs - tachycardia, tachypnoea, active recording, hepatomegaly, soft pansystolic murmur, apical middiastoic murmur, loud p2
CXR shows cardiomegaly, pulm vessel enlarment and oedema
ECG shows biventricular hypertrophy by 2mo (tall qrs)
Echo shows defect
Diuretics for HF and captopril (ACEi)
Additional calorie input
Surgery at 3-6m to treat pulmonary htn, HF and prevent long term damage
Features of tetralogy of fallot and sx
VORP:
VSD, Overriding aorta, Rv hypertrophy, subPulmonary stenosis causing RV outflow obstruction
Sx: cyanosis, hypercyanotic spells (TIA, stroke, MI, death) followed by sleep, squat on exercise
Signs - clubbing, loud harsh ejection systolic murmur at left sternal edge from day 1
Diagnosis of ToF
Antenatally
Inv ToF
CXR - small boot shaped heart from RV hypertrophy, increased pulmonary vascular markings
ECG - normal at birth, then RV hypertrophy
Echo - features
Manage ToF
<6mo - medical, tube from subclavian to pulmonary artery or RV outflow balloon dilatation if cyanosis at birth
6m - definitive surgery to close VSD and relieve outflow obstruction
Hypercyanotic spells - treat if >15m with
- sedation, pain relief
- IV propanolol
- fluids, bicarbonate
- artificial ventilation to reduce metaboic o2 demand
Transposition of great arteries abnormalities
ASD, VSD and PDA to allow mixing
Presentation and inv for TGA
Day 2 when PDA closes so reduced mixing - cyanosis, second heart sound loud, no murmur
Inv - cxr = narrow mediastinum and egg shaped heart, increased pulmonary vascular markings. ECG normal. Echo shows vessels
Manage TGA
Maintain mixing with prostin infusion or balloonatrial septoplasty to make FO flap incompetent
Operate in first few days of life
Complication of left to right shunt and treatment
Eisenmenger: sx from shunt decreases as grow, but pulm arteries become thickened and resistance increases. 10-15yo, shunt reverses and become cyanosis
Life expectancy 40-50yo
Treat high pulmonary blood flow, transplant
What is AVSD and common associated condition
Common in Down’s syndrome
Failure of endocarditis cushions - 5 leaflet valve between atria and ventricles
Causes pulmonary hypertension
Presentation of AVSD and treatment
Antenatal USS Cyanosis at birth HF att 2-3w of life No murmur Medical management for HF and surgical repair at 3-6m
What is tricuspid atresia
Absence of tricuspid valve - small and nonfunctioning right heart
Need ASD and VSD to live
Mix blood through ASD = cyanosis
Manage tricuspid atresia
Shunt from pulmonary to subclavian artery, reducing cyanosis
Pulmonary artery banding reduces breathlessness
Fontan proceedure - IVC and SVC go into pulmonary arteries
Presentation of aortic stenosis
Aortic valve leaflets partly fused, restricting exit from LV
May be critical stenosis - duct dependent (HF)
Asymptomatic
Chest pain/reduced exercise tolerance/syncope on exertion if severe
Signs - small volume slow rising pulse, ejection systolic murmur, carotid thrill
Inv aortic stenosis
CXR - post-stenotic dilatatation of ascending aorta, enlarged LV
ECG - LV hypertrophy
Manage aortic stenosis
Balloon valvotomy if sx on exercise or high resting pressure gradient
May require valve replacement eventually
HF - diuretics and digoxin, plus IV furosemide if still sx
Findings of pulmonary stenosis on exam and inv
Asymptomatic
Ejection systolic murmur, ejection click, RV heave if severe
CXR - normal or post-stenosis dilatation of pulmonary artery
ECG - RV hypertrophy
Manage pulmonary stenosis
When pressure gradient very high, with transcatheter balloon dilatation
What is coarctation of the aorta
Arterial duct tissue encircles aorta at point of duct insertion - aorta constricts when duct closes
Features of CoA and associated condition
Present at d2 with collapse when duct closes
VSD usually present
Radiofemoral delay
Assoc with Di George
Manage CoA
Stent or surger by 5yo to avoid pulmonary hypertension
Hypoplastic left heart syndrome?
Underdevelopment of left side of heart:
- LV very small
- mitral valve very small
- aortic valve atresia
- Ascending aorta small and coarctation
Diagnosis of HLHS and presentation
Antenatal USS
Profound acidosis and CVS collapse at birth
Manage hlhs
Neonatal - Norwood procedure
6m or 3y - Fontan procedure
Sx of inf endocarditis and who is at risk
Risk if CHD Fever, anaemia Clubbing, splinter haemorrhages Necrotic skin changes Splenomegaly
Most common cause of inf endocarditis
Strep viridans
Manage inf endo
Penicillin and aminoglycoside IV 6w
Cause of cardiomyopathy
Dilated - inherited` secondary to metabolic disease or viral infection
Features of dilated cardiomyoathy
Large poorly contracting heart
Suspect if HF and dilated heart
Treatment dilated cardiomyopathy
Diuretics, ACEi, carvedilol (b blocker)
Treat myocarditis
Most improve spontaneously
May need a transplant
Causes of pulmonary hypertension - 4 classes
1) Pulmonary artery - pressure high from heart - VSD, AVSD, PDA idiopathic, HIV
2) Pulmonary vein - pressure must be higher to return to heart - left sided heart disease, pulmonary vein stenosis or compression
3) Pulmonary thromboembolism
4) Respiratory - chronic obstructive or premature lung disease, interstitialung disease, upper airway obtruction, sleep apnoea
Manage pulmonary hypertension
Fix shunts if present - at 6 months
Inhaled nitrous oxide
IV magnesium sulphate
Sildenafil - oral phosphodiesterase inhibitor
Bosentan - endothelin receptor antagonist
GMP
Anticoagulation - heparin, aspirin or warfarin
Heart and lung transplant only option if not treated and becomes pulmonary vascular disease
Features of colic
First few weeks of life, resolves by 4mo
Crying, pulling up legs, excessive flats for >3h on 3+ days a week
Assoc with feeding difficulties
Manage colic
Grandparent involvement, reduce stress, reassurance
Movement
Let baby finish first breast first
Severe and persistent could be CMPI or GORD - 2w trial of protein hydrolysed formula and consider GOR treatment trial
Crying - how to help parents - 5
Take concerns seriously Help them recognise hungry/tired Encourage vocal, vestibular or tactile stimulation Baby centred approach Involve health visitor
Causes of excessive crying - 5
Infection - middle ear, URTI, meningitis Unrecognised fracture Oesophagitis Severe nappy rash and constipation Testicular torsion
Constipation description
<3 stool a week
Or excessive hardness with strain/pain
With reluctance to feed
Long standing - overdistended - reduced urge to defecate
Causes of constipation
Function - lack of fibre, poor diet, reduced fluid intake, ignoring urge Hypothyroid Hypocalcaemia Painful fissure Anorectal abnormalities eg atresia Hirschprung’s
Red flag sx for constipation
Failed to pass meconium in first 48h - Hirschprung’s
Failure to thrive - hypothyroid, coeliac
Neuro:
Abnormal lowerlimb neuro/deformity - lumbosacral pathology
Sacral dimple/central pit - spina bifida occulta
Anus:
Abnormal position, patency, appearance - Anatomy
Bruising or multiple fissures - abuse
Examination for constipation
Palpable mass/distinction - constipation, Hirschprung’s
DRE by specialist if suspect pathology
Spine - spina bifida occulta
Manage constipation
Advice - - obey call to stool (toilet retraining) - gastrocolic reflex - dietary fibre and fluid 1st line laxative to evacuate overloaded rectum completely - macrogol softener eg polyethylene glycol and electrolytes (movicol paediatric plan). Escape over2w until resolved impaction 2nd - stimulant senna or sodium picosulphate Follow treatment with maintenance Enema if oral fails
Dehydration 5 risks
Low birthweight and <6mo 6+ diarrhoea stools in 24h 3+ vomits in 24h Unable to tolerate fluids Malnutrition
Why dehydration in kids?
Bigger surface area to weight ratio - higher insensible water losses
Higher basal requirements
Immature renal tubular reabsorption
How much insensible losses and basal fluid requirements
Insensible losses - 300ml/kg2/d or 15-17ml/kg/d
Basal requirements - 100-120ml/kg/d
Dehydration %s
5-10% = clinical dehydration >10% = shock
3 types of dehydration
Isonatraemic - proportional losses
Hyponatraemic - diarrhoea/drinking hypotonic solution = sodium lost more than water - fall in plasma sodium - water shifts from ECF to ICF - increase in brain volume and shock
Hypernatraemic - high insensible losses - fever/hot/dry envt or profuse low-sodium diarrhoea - water loss > sodium loss = hypertonic ECF compared to ICF so water shifts to ECF = reduced signs of dehydration
- water drawn out of brain and cerebral shrinkage = jitttery, increased tone and reflexes, altered consciousness, multiple small cerebral haemorrhages
Investigate dehydration
Stool culture if septic, blood/mucus, immunocompromised
Plasma electrolytes, urea, creatinine, glucose if going to give IV fluids or suspect hypernatraemia (neuro signs)
Bloodculture ifstarting abx
MAnage dehydration
Oral rehydration - fluid deficit replacement (50ml/kg) over 4h as well as maintenance
IV fluids - bolus if shock, and replace deficit over 24h
Fluid replacement over 48h if hyperntaramia to avoid cerebral oedema and seizures and monitor sodium
Abx if sepsis, extraintestinal bacterial spread, salmonella gastritis <6mo, malnourished or immunocompromised, specific bacteria or protazoa eg shigella, cholera, giardiasis, c dif with pseudomembranous colitis
No antidiarrhoeals or anttiemetics as will prolong excretion of bacteria
Fluid requirements
Maintenance: 100ml/kg/24h for first 10kg
50ml/kg/24h for next 10kg
20ml/kg/24h for the rest
Emergency boluses: 20ml/kg/24h (1st 10kg)- 20ml/kg/24h (2nd 10kg) - 10ml/kg/24h (other)
Correct fluid deficit: weight x % deficit x 10
CAuses of failure to thrive and what is it
Head circ preserved relative to weight
Drop 2 centile
1) inadequate intake - environmental, suck/swallow or anorexia from chronic illness
2) excessive loss - diarrhoea, vomitingg
3) malabsorption - coeliac, CF
4) inadequate use eg syndromes
5) excess requirements eg malignancy, CF, chronic infection, resp, renal failures
Initial managemen of failrule to thrive - 3
Increase energy intake
Diet and behavioural modification
Monitoring growth
Contributing factors to failure to thrive
Difficulty at home - neglect, abuse, deprivation
Feeding - unskilled, inadequate breast milk
Physiological - idiosyncratic growth pattern, normal child (look at family, preterm, alert and responsive)
History in failure to thrive
Food diary Process of feeding Diarrhoea, vomiting, cough, lethargy Iugr, premature Normal development Family Psychosocial problems at home
Examination for failure to thrive
Malabsorption - distended abdo, thin buttocks, miserable
Chronic resp disease - chest deformity, clubbing
Signs of Hf or nutritional deficiencies
Inv failure to thrive
Bloods:
FBC, ferritin, UE, glucose, LFT, calcium, TSH, crp
Immunoglobulins
MSU
Specific testS: IGF-2 - eg IBD Coeliac serology Sweat test Stools
Imaging:
CXR
Renal/CNS USS
Skeletal survey - dwarfism, abuse
Manage failure to thrive
GP, health visitor, paediatric dietician, clinical psychologist
Admit if <6m and severe, require active feeding
commonest causesss of gastroentteritis
Rotavirus (most)
Norovirus (most in adults)
Astrovirus, adenovirus
Bacteria causes - less common in developed countries - blood in Stools
- Campylobacter jejuni - severe abdo pain
- shigella and salmonella - blood and pus, pain and tenesmus
- cholera and E. coli - profuse, rapidly dehydrating diarrhoea
Presentation of gastroenteritis
Loose,watery stools Vomiting High pitched cry and inconsolable - hypernatraemia No fever History of contact with DV/abroad Dehydration and shock
Assess dehydration and shock
Weight loss CRT, BP, HR, weak pulse, rr UO Skin turgor, mucus membranes, fontanelle Pale/mottled, sunken eyes - assesses CSF
Mimics of gastroenteritis
systemic - sepsis
Local inf - resp, otitis media, hep a, uti
Surgical - pyloric stenosis, intussusuceptiotn, appendicitis, NEC, Hirschprung’s
Metabolic - dka
Renal - hus
Inv gatroentereitis
Clinical diagnois
Stool culture if septic appearance or travel hx or no improvement in 7d- bacteria, ova, cysts, parasites
Bloods and UEs if requiring fluids
Blood culture if starting abx
Manage gastroenteritis
Monitor weight
continue breastfeeding
ORT - diarolyte fluid challenge (5ml 5mins) then 50ml/kg over 4h
NGT if won’t take ORT
Fluids - dextrose, saline, potassium
Ondansetron to reduce - vomit, need for fluids, need for admission
Monitor UE, creatinine, glucose
Hypernatraemia - half rehydration rate - so rate = (maintenance x2 + rehydration)/48 = hourly
Complications of gastroenteritis
Dehydration
Malnutrition
Temporary sugar intolerance after DV with explosive water acid stools - give temporary lactose free diet
Post-enteritis enteropoathy - resolves spontaneously
Features of GORD
Recurrent regurg/vomiting but still gaining weight as normal and otherwise well
Common in infancy
Due to inappropriate relaxation of lower oesophageal sphincter due to functional immaturity
4 risk factors for GORD
Mainly fluid
Mainly horizontal posture
Short intra-abdo length of oesophagus
Malrotation/previous exomphalos
Differentials for GORD
CMPI
Physiolgical, overfeeding
Inv GORD
Clinical diagnosis, observe feeds
If atypical hx, complications or failure of treatment response:
- 24h oesophageal ph monitoring
- endoscopy with biopsy to identify oesophagitis
Complications of GORD
Failure to thrive - bleeding = iron deficiency
Oesophagitis - heamatemeiis, heartburn, iron deficiency anaemia
Pulmonary aspiration - pneumonia, cough, wheeze, apnoea
Dystonic neck posturing - Sandifer syndrome
Manage GORD
Mild - reassure, avoid overfeeding, feed upright, add thickeners
Significant - H2 antagonist ranitidine or PPI omeprazole. Infant gaviscon
If medical therapy fails or oesophageal stricture = Nissen fundoplication
What is coeliac disease
Gluten sensitive AI diseae of SI
T cell mediated
Immunological response to environmental factor (gliadin) and genetics - HLADQ2/8
Prestaiotan of coeliac diseae
Chronic Pale, loose stools 2-3x/d Faiure to thrive Vague abdo pain Pallor
Rf for coeliac diseae
Family
AI - diabetes, thyroid
Coeliac inv findings
Histology - crypt hyperplasia and villus atrophy, intraepithelial lymphocytes - on SI biopsy
Serology - tTG antibodies, endomyseal antibodies
Malabsorption
Sx resolve and growth catches up with gluten withdrawal
complications of coeiac
Anaemia - iron/folate def
Osteoporosis
Cancers - small bowel lymphoma
Main causes of encropresis and soiling and manage
Constipation - give osmotic laxative macrogol
Behavioural - healthy toileting habits
What is functional abdo pain and manage
All inv normal, no weight loss or bowl sx
Periumbilical, doesn’t move or change
Brief, no recognisted trigger
Screen forcoeliac and constipation, reassure nd explain
UC and crohn’s presentaitaon
UC - rectal bleeding, diarrhoea, colicky pain, weight loss, growth faiure
CD - lethargy, ill health, GI sx
Inv UC
Rule out infective colitis
Endoscopy - confluent pancolitis
Histology - mucosal infl, crypt damage, ulceration
SI to rule out extracolic inflammation - CD
Locations of CD and effects
Mouth - oral facial granulomatosis
Small intestines - delayed puberty
Distal proctitis - tenesmus and watery diarrhoea
Lungs - granulomatous, transmural - strictures, fistulae
Mostly distal ileum and prox colon
Inv crohn’s
Inflammatory markers
iron def anaemia
serum low albumin
Upper GI endoscope and ileocolonoscopy = non-caseating epithelioid granulomas
SI imaging = narrowing, fistulae, thickening, mucosal irregularities
Manage UC
Mild - aminosalicylates (mesalazine) for induction and maintenance, +- topical steroids if confined to rectum and sigmoid
Acute exacerbation - systemic steroids and immunomodulators (azathioprine)
Maintain remission - immunomodulators (azathioprine) +- low dose steroids
Severe - biologics (infliximab, ciclosporin) for resistant disease
Surgery if ineffective
Severe fulminating = emergency - fluids, steroids, ciclosporin
Colonoscopic screening regularly 10y after diagnosis as risk of adenocarcoma
Manage crohn’s
Fully liquid diet for 6-8w
Steroids
Immunosuppresssion - azathioprine, mercaptopurine
Anti-TNF - infliximab, adalimumab
Enteral nutrition to correct growth failure
surgery
Differentials for malabsorption
Poor diet, iron deficiency
Protein losing enteropathy ie lymphangiectasia - secondary to heart disease, antitrypsin in stool
When to suspect lactase deficiency
First feed = watery diarrhoea
Causes of fat malabsorption - 2
Cholestatic liver disease or bilailry atresia - bile salts dont enter duodenum
Lymphatic leak or obstuction prevents chylomicrons reaching thoracic duct and systemic circulation - lymphangiectasia
Cause of nutrient, water, electrolyte malabropstiotn - 4
Short bowel syndrome from resection (congenital abn or NEC)
Loss of terminal ileum from CD resection - lack of bile acid and B12 absorption
Exocrine pancreatic dysfunction eg CF - lipase, protease, amylase
Loss of absorptive area - coeliac
MEsenteric adenitis - what is it and featuress
? Exist?
Large mesenteric nodes on laparoscopy, normal appendix
Non specific/RIF pain, assoc with cervical lymphadenopathy and URTI, resolves in 24-48h
What is the most common cause of diarrhoea in toddlers and what is its cause
Toddler/chronic nonspec diarrhoea
Persistent loose stools, varying consistency, often with undigested vegetables
Children well and thriving
Dysmotility of gut and fast transit diarrhoea, improves with age
Differentials for toddler diarrhea - 3
coeliac
Excessive fruit juice
Temporary cows milk allergy after gastroenteritis
What is typhoid and diagnosi
Salmonella typhi - gr neg bacilli
Foecal oral transmission, <10d incubation
Diagnose = culture of: bile, blood, bone marrow aspirate (gold standard)
Treat typhoid
3rd gen cephalosporin ofloxacin
Causes of soiling - 4
Developmental - haven’t learnt or physical/learning difficulty
Biological - GI illness, fistula, previous pain, now constipation and overflow diarrhoea
Behavoral - fear, ignore signs
Contextual - stressful life events
Manage soiling
Toilet training - star chart, foot support
Constipation - fluids, laxative, diet
Tropical infections with short incubation periods
<10d Gastro Typhoid Plague Viral haemorrhagic fevers - lassa, dengue, Ebola
Tropical inf with medium incubation period
21d
Malaria
Trypanosomiasis
Leptospirosis
Tropical inf with long incubation period
>21d Viral hepatitis Malaria - dormant in liver TB HIV Schistosomiasis Amoebic liver abscess
Suggestive features in acute abdo pain
Hard faeces - constipation African/Mediterranean - sickle cell Recent URTI - renal disease Periodic and vomiting - abdo migraine Travel - TB PICA - do blood lead level and ferritin
3 categories of acute abdo pain causes and examples of each
Surgical - intussuseption, appendicitis, inguinal hernia, peritonitis, inflamed meckel’s diverticulum
Medical - dka, HSP, gastroenteritis, IBD, uti, pyelonephritis, sickle cell, mesenteric adenitis
Extra-abdo - URTI, lower lobe pneumonia, testicular torsion, menstruation or PID
Tests in acuteabdo pain
Urine dip
AXR, USS, CTKUB
Barium
Bloods - FBC, CRP
Symptoms of appendicitis
Anorexia
Slight vomiting
Central and colicky pain then RIF, worse with movement
Signs of appendicitis
Flushed face with oral fetor
Fever 37.2-38
Tenderness and guarding in RIF - McBurney’s point
Diagnosis of appendicitis - 5
Clinical - Rosvig sign
Axr - foecolith, perforation
FBC
Urine dip - leukocytes can be raised as appendix can be near bladder or ureter, nitrates shouldn’t be raised
USS - thick and noncompressible appendix with increased blood flow
Treatment appendicitis
Appendectomy if. Uncomplicated
Compicated - mass, abscess, perforaiotan, generalised guardian = fluid resusc and iv abx
Primary damage causing head injury
Penetration injury
BV injury - EDH, SDH, SAH
Neural tissue - diffuse axonal injury, focal cerebral contusion/laceration
Secondary damage causing head injury
Cerebral oedema Hypotension Hypoxia Seizures Hypoglycaemia Infection
Urgent CT head for child indications
Poor breathing effort, unresponsive/only to pain
Suspect NAI
Post-traumatic seizure
GCS<14 initially of <15 2h later
Suspected open or depressed skull fractur, sign of basal skull fracture (haemotympanum, Battle’s sign, CSF leak)
Focal neuro signs
<1yo with bruising or swelling >5cm on head
Head injury indications for admission and observation
Amnesia >5m Loc >5m witnessed ABnomal drowsiness 3+ vomiting Dangerous mechanism of injury
Process of testes migration and when it goes wrong
Form on urogenital ridge of post abdo wall, migrate towards inguinal canal guided by gubernaculum (under influence of AMH). Then enveloped by processus vaginalis (tongue of peritoneum) which is obliterated after birth - failure = inguinal hernia or hydrocoele
Cause of inguinal hernia and who/where
Patent processus vaginalis
More often in boys, premature, on right side
Presentations of inguinal hernia - 4
Intermittent swelling in groin or scrotum on straining or crying
Irreducible, firm and tender lump lateral to pubic tubercle
Groin swelling may become more prominent on raising intra abdo pressures pressing on abdo
May be unwell, irritable, vomit
Manage inguinal herniae
Sustained gentle compression under opioid anaesthesia will reduce most
Surgery delayed for 24-48h to allow oedema to reduce
Emergency surgery if not reducing as risk of strangulation:
- within 2d if <6w
- within 2w if <6m (narrower canal = more likely to incarcerate)
- within 2m if <6y
umbilical hernia - management
Large or symptomatic - operate at 2-3yo
incarcerated - reduce by compression and operate within 24h
Most will resolve by 4-5yo, if not, refer to surgery
Diaphragmatic hernia - inv and treatment and complication
X-ray at birth = opacification as no air entered bowel yet. At 6h = bowel loops in chest
Causes pulmonary hypoplastic as impeded development and pulmonary htn
Treat with iv suxamethonium to stop breathing at birth and prevent air entering lungs
ECMO into jugular vein and carotid
What Is Hirschprung’s disease and 4 complications
Congenital absence of ganglion cells from myenteric and submucosal plexus in a segment of colon. 75% rectosigmoid, 10% entire colon
Causes narrow and contracted segment, functional GI obstuction, constipation and megacolon
Presentaitaon of hirschprung’s diseae
Failure to pass meconium within 24h
Abdo distension
Bile stained vomit - late
complications of Hirschprung’s - 5
GI perforation Bleed Ulcer Enterocolitis — life threatening, sometimes c dif Short gut syndrome after surgery
Test/Inv for Hirschprung’s
Faeces on abdo exam
DRE = tight anal sphincter, explosive discharge of stool and gas on withdrawal
Diagnose with rectal suction biopsy of agangiolic section, with staining for ache +ve nerve excess
Anorectal manometry or barium studies -gives idea of length of segment
Treat Hirschprung’s
Excision of aganglionic segment and anastamosing normally innervated bowel to anus
May need colostomy
What is intussusception and where
Invagination of prox bowel into distal segment - telescope
Commonly ileum into caecum via ileocaecal valve
Presentation of intussusception
Most common cause of intestinal obstruction in kids, peak at 3m-3yo
- paroxysmal, severe colicky pain and pallor - pale around mouth and draws up legs during episode,s then lethargic afterwards
- Refusal of feeds
- vomitting , can be bile stained
- dehydration
- palpable sausage shaped mass
- red current jelly stool with blood stained mucus (sloughing of mucus due to ischaemia or pressure from constipation)
- abdo distension and shock
>4yo: less likely to have rectal bleeding, longer hx over 3w+ and other pathology, eg CF, peutz-Jeghers, hsp
6mo, intermittent colicky pain, vomiting and dehydration
Intussusception
Cauuseso f intussusception
Anything in gut that encourages telescoping - meckels, polyps, Peyers patch hypertrophy, hsp, lymphoma, tumour
Inv and management of intussusception
USS = doughnut or target sign
Trt - NGT, NBM, fluids, call paeds surgeon
Cross match blood
Reduce with air enema (rectal sufflation - 75% success)
If fails or perforates = reduction at laparoscopy or laparotomy
Complications of intussusception - 5 and pathophysiology
Shock
Sepsis
Haemorrhage
Peritonitis and gut necrosis - from stretching and constrictiotn of mesentery - venous obstruction - enorgement and bleeding from mucosa -ischaemia - fluid loss and perforation, peritonitis, gut necrosis
features and inv of neonatal intestinal obsturction
Bilious vomiting
X-ray and big stomach
- duodenal atresia = 2 bubbles, no gas distal to stomach - diagnosed in utero, more common in downs, bile/milky vomit depending on location
- midgut malrotation causing volvuus (should be 3x90 anticlockwise)
Cause of pyloricstenosis and presentation - 7
Hypertrophy of pyloric muscle causes gastric outlet obstruction
3-8w:
- projectile milky vomit after feed, increase in frequency and force overtime - then hungry after. No bile i nvomit
- no diarrhoea, often have constipation
- visible peristalsis
- dehydrated
- weight loss if late presentaitaon
- hypochlorameic metabolic alkalosis with low Na and K
- fhx
Inv pyloric stenosis
Test feed - gastric peristalsis mayy be seen from leftto right across abdo
Pyloric mass - olive shaped - in RUQ
Can see visible peristalsis and distended stomach during feed
USS if exam unremarkable
VBG/UE = metabolic alkalosis, low na and cl
Manage pyloric stenosis
Correct fluid and. Electrolyte disturbances ith IF fluids
Definitive = ramstedt’s pyloromyotomy - divide hypertrophic muscle down to mucosa
When does testicular torsion normally happen
Adolescents or perinatal - hormone related?
More if undescended
Presentation of testicular torsion - 5
Sudden onset pain in scrotum, groin or lower abdo, often referred to abdo or inuinal region with minimal pain in testis itself
Red and swollen
Hx of self limiting episodes
Cremasteric reflex absent
Worse on elevation - differentiates it from epididymitis (better on elevation)
Manage testicular torsion
Within 6-12h or risk viability
Surgical exploration mandatory, if confirmed:
- fix contralateral testis as anatomical predisposition where not anchored properly
Doppler USS to look at flow in testicular bv may differentiate torsion from epididymitis (NOT before surgery )
Differential for testicular torsion
Epididymitis - better on elevation, can see on USS that not torsion, normally <5yo
Idiopathic scrotal oedema - goes away in <5d, give anti inflamamtories
Torsion of testicular appendage - over 1-2d, may be felt, small hydrocoele, just before puberty
Testicular pain growing over 1-2d, just before puberty - what and treatment
Torsion of testicular appendage - hydatid of morgagni = embryological remnant on upper pole of testis
Torsion due to rapid enlargement in response to gonadotropins
Tortid hydatid may be felt
Treat with surgical exploration and excision of appendage
what is volvulus and 2 types
Twisting of structure around itself
Sigmoid - most common
Caecal
Sigmoid volvulus sx and exam, inv and treatment
Constipation, abdo bloating , nausea, (vomiting - late sign)
O/E - distended abdo, tympanic to percussion
AXR - coffee bean sign
Treat - sigmoidoscope decompression and leave flatus tube in situ
Caecal volvulus sx and exam, inv and treatment
Colicky abdo pain, vomiting, abdo distension
AXR - coffee bean, long axis from right lower quadrant to epigastrium or LUQ
Treat - endoscopic decompression or surgical intervention via caecostomy
Balanoposthitis sx and treat
Extensive redness, purulent discharge
Peak 3yo, recurs in 1/3
Treat - abx (topical or systemic), topical steroids
What is balanitis xerotica obliterans
Progressive scarring presenting as pathologically non-retractile (phimosis) with white thickening of foreskin, can extend onto glans, into meatus and ultimately urethra
foreskin retractable?
Not normally in infancy, as prepuce is adherent to underlying glans to protect non-keratinised glandular and meatal squamous epithelium from urine
- inflammation, ulceration, ammoniacal dermatitis/nappy rash
Medical indications for circumciion
BXO
Recurrent balanoposthitis causing refractory sx
Prophylaxis of recurrent UTI, especially if congenital uropathy - posterior urethral valves or vesicoureteric reflex - or limited renal reserves
What is hydrocoele
Patent processus vaginalis, narrow enough to prevent inguinal hernia, but may allow peritoneal fluid to leak into testis
Presentation of hydrocoele
Asymptomatic scrotal swelling, often bilateral, may have blue colour
Tense or lax
Non tender and transilluminate
Manage hydrocoole
Mostly resolve spontaneously
Surgery if persist beyond 24m
Differentiate hydrocoele from inguinal hernia - 2
Can getabove hydrocoele, cannot get above hernia
Tender and non-reducible = strangulated hernia
Signs of hernia obstruction - 3
Bilious vomiting
Pain
Absolute constipation
Malrotation mechanism and presentation n
Mesentery not fixed at duodenojejunal flexuure or ileocaecal region, base is shorter than normal, predisposed to volvulus
Present with: obstruction (Ladd bands obstructing duodenum, or volvulus)
Compromised blood supply - signs = urgent laparotomy - superior mesenteric arterial blood supply to SI and proximal LI compromised
Bilious vomiting = urgent upper GI contrast study
Normally first 1-3d of life but can be up to 3w
Management of malrotatiotn - 3
Scan with contrast or AXR
Untwist volvulus, mobilise duodenum and place in non-rotated position (caecum and appendix in LIF) - mesentery broadened
Remove appendix to avoid future confusion with appendicitis
What is NEC
Air in abdo wall
Tense, swollen, red abdo, unwell baby
Manage - conservative - fluid, TPN, recovery in 7-10d
Operate if fails, or perforate
RF for gastroschiisis - 4
Economic disadvantage
Young mother
Smoking
Cannabis in 1st trimester
Manage gastrochisis - immediate andlong term
Decompress with NGT and wrap in cling film
Put in silo tube and sqeeze every couple of days to push back into abdo - avoids anaesthetic, can check bowel for atresia etc first
Long term - erythromycin prokinetic dose and lansoprazole (for 1y) to increase appetite and prevent reflux
Complications of gastroschisis - 6 short term, 2 long term
Cardiac defects likely Dehydration, hypothermia, infection Short bowel can cause liver failure Abdo pressure increased during return = pressure on pelvic veins, kidneys and lungs = intraabdo compartment syndrome - check legs still pink and crt - avoid by returning slowly Long term - - malrotation causing vomiting/retching due to reduced gastroduodenal angle -reduced appetite
What is exomphalos, prognosis and treatment
GI in bag with Wharton’s jelly and amnion
LEss good outcome than gastrochisis as often with cardiac problems, trisomy 13 (midline defects) - many die in utero, short life expectancy
Minor - close (<5cm)
If big - keep clean and wait until big enough and cardioresp stable - >12mo
Sx of tracheo-oesophageal fistula
Vomit all feeds
NGT won’t go down - seen as loop on X-ray
Risks of trachoe oesophageal fistula
Prone to laryngomalacia and reflux - cough and aspiration - bronchiectasis if not treated
Complication of surgery - damage to thoracic duct - chylothorax
2 types of necklumps
Thyroglossal cyst - remnant of thyroid duct
Branchial cyst or sinus (uncovered, fluid leaks) - cleft from anterior border of scm, can track back to tonsillar fossa
cause of undescended testes and where
Arrested along normal pathway of descent
Can ascend to inguinal position during childhood due to shortening of cord structures
How common is undescended testes and time line of descent
1% of neonates
30% of premature - 25% bilateral in these
- as testicular descent via inguinal canal is in 3rd trimester
-15-25w = transabdo phase, gubernaculum thickens and shortens to pull testes down
-25-35w = inguinal scrotal phase
-2-3m = testosterone surge can cause undescended testes to descend
3 types of undescended testes
Retractable - can be manipulated into bottom of scrotum without tension but retract into inguinal region due to pull of cremaster muscle
Palpable - palpated in groin but cannot be manipulated into scrotum - can be ectopic, outside normal line of descent (peritoneum, femoral triangle)
Impalpable - no testis felt, may be in inguinal canal, intra abdo or absent
exam for undescended testes
Massage contents of inguinal canal towards scrotum into a palpable position
Inv for undescended testes
USS - not very reliable, only when bilateral impalpable to verify pelvic organs
Hormonal - measure serum testosterone in response to IM injection of HCG - confirms presence of testicular tissue in children ith bilateral impalpable testes
Laparoscopy - gold standard - under anaesthesia.
- first do inguinal exam to ensure testis not in inguinal canal, ensure in abdo and viable
Manage undescended testes
Watch and wait until 6m
Orchiopexy - surgical placement of testis I scrotum - for:
- fertility - optimise spermatogenesis as lower temp in testis
- reduced risks of torsion and trauma
Fertility in undescended tests after orchiopexy
Bilateral impalpable = usually sterile
Bilateral palpable = 50% reduced
Unilateral - fertility normal
Complications of undescended testes and manage
Malignancy - higher dysplastic abnormalities and higher risk of malignancy - bilateral and intra abdo have greatest risk. Cannot self exam unless operated on
Cosmetic and psychological - prosthesis can be used if absent, but wait until can have adult sized
What is vesicoureteric reflex
Abnormal backflow of urine from bladder into ureters and kidney - uterers displaced laterally, meaning they’re more perpendicular and shorter intramural course, leading to vesicoureteric junction being less effective
Predisposes to UTI
Sx of vesicoureteric reflex
Mild - none
Severe - infection, pyelonephritis, renal scarring - reduced renal blood flow - htn
Inv vesicoureteric reflex
Abdo USS
Voiding cystourethrogram with contrast
Radionuclide cystogram for renal scarring
Treating vesicoureteric reflex
Grade 1-2 - tell parents how to recognise UTI, always send for MCS
Grade 3-5 - prophylactic abx low dose daily
Normally improves or disappear over time as ureters get longer and junction valve improves as grow - most by 1yo, almost all by 5yo
Surgery to remove blockage or repair valve if no improvement/significant sx
Features of UTI incl inv
Fever and vomiting
Dipstick - polymorphs (>10^8). Mixed = contaminants
USS for hydronephrosis
Micturition cystourethrogram for vesiculoureteric reflex - no need if >1yo, not recurrent, don’t suspect pyelonephritis
Technetium renography if recurrent inf, <1yo, fhx of abn - for scarring
Treat UTI
<3mo - IV amoxicillin and gentamycin
>3mo - PO trimethoprim (or nitrofurantoin, or coamox) 3d
Consider trimethoprim as prophylaxis if. - recurrent, significant GU abn, renal damage
Advice for parents if UTI - 3
Avoid constipation
Ensure fluid intake and micturition
Avoid nylon pants and bubble baths
Cleanliness - wipe front to back
Presentation, inv and manage posterior urethritis
Present with pain post-micturition +-blood
Inv - scope under GA = visible inflammation
Manage with IV steroids
Features of nephrotic syndrome
Triad:
1) proteinuria (urine PCR high)
2) oedema - face, abdo, pedal
3) hypoalbuminaemia
Causes of nephrotic syndrome and biggest RF
Mostly idiopathic minimal change - assoc with allergy and IgE
- steroid dependent, steroid sensitive or steroid resistant
Focal segmental glomerulosclerosis likely of steroid resistant
9x more common in SE Asia
Complications of nephrotic syndrome
Infection - pneumococcal peritonitis Reduced clotting High cholesterol Increased fat uptake as more lipoprotein production due to increased liver stimulated to make more protein Relapse - 85% Renal failure if repeated
Inv nephrotic syndrome
Dipstic for protein - 20% have microscopic haematuria, frothy, albuminous and casts
UE normally normal
FBC - cholesterol may be raised from increased liver stimulation, Hb raised from dehydration, albumin low so Ca low
Biopsy if older, with haematuria, htn, raised urea, unselective protein loss or treatment failure
Manage nephrotic syndrome
Daily steroids PO for 4w then every other day
- no response = IV for 3d
- 90% steroid sensitive, if not = focal segmental glomerulosclerosis
Albumin to temporarily fill blood space and fluid if shock/instability/severe sx
Extra pneumococcal vaccine if >2yo
Prophylactic penicillin when acutely nephrotic
Chicken pox prevention if not immunised (high risk of dissemination) - varicella IgG if not exposed, acyclovir IV if exposed
Monitor urine daily for 2y - neg or trace for 3 consecutive samples = remission
- 3+ or more for 3+ days = relapse - high dose until remission
Immunosuppressants eg cyclophosphamide if >2 relapses in 6m or relapsing with steroid toxicity
sx of post infective glomerulonephritis
Gross haematuria
Oliguria causes oedema
Hypertension from fluid retention
Malaise, anorexia, fever, abdo pain
Inv post infective glomerulonephritis
Dipstick for proteinuria - can be transient - and haematuria
Creatinine and urea high
Hb low due to dilute
Complete C3 low as deposited (C4 normal)
- if haven’t recovered in 8-12w, test for SLE, as both are raised in lupus glomerulonephritis
ASO titre
Microscopy - neutrophils
Treat post inf glomerulonephritis
Diuretics Calcium ch blocker amlodipine Fluid and salt restriction, protein restriction when oliguric Oral penicillin Nitroprusside if encephalopathy
Oedema resolves in 5-10d, htn, haematuria and proteinuria take several weeks
Common cause of post inf glomerulonephritis
Strep - pharyngitis, impetigo
7-21d after
Steroid SEs in children
Obesity, diabetes Poor growth Raised BP Osteoporosis Avascular necrosis of hip Adrenal suppression
Causes of nephritis in children
B haemolytic strep from URTI, viruses, bacteria HSP Toxins Berger’s disease Malignancy Renal vein thrombus
Acute glomerulonephritis features
7yo Haematuria and oliguria (increased bp and uraemia) from immune cause Periorbital oedema Fever GI disturbance Loin pain
Complicated presentations of glomerulonephritis - 3
Hypertensive encephalopathy - restless, drowsy, fits, severe headache, vomiting, reduced vision, coma
Uraemia - acidosis, twitchy, stupor, coma
Cardiac - gallop rhythm, cardiac failure/enlargement, pulmonary oedema
Blood tests for glomerulonephritis
FBC, UE C3 low, C4 normal ASOT, Anti-dsDNA (SLE), ANA, ANCA (vasculitis) Blood cultures and virology Urine culture and specific gravity
bladder capacity , ,post void capacity and rate of urine production
Age +1 x30
Empty to 10% capacity
Make 1mg/kg/h or urine
impact of dysfunctional bladder
social isolate, depression, anxiety
Incomplete emptying causing UTI - sphincter and pelvic floor muscles contract incorrectly - often also constipated
Causes of dysfunctional bladder and management
Neuro - trauma, infection (transverse myelitis), spina bifida, sacral agenesis, tumour in spine or bladder
Potty training
Primary nocturnal eneuresis due to routine change
Detrusor overactivity - on urodynamics assessment, treat with anticholinergics
<8yo - eneuresis alarm, >8yo or needed immediately = terlipressin
What is nocturnal eneuresis and 3 contributing factors
Intermittent involuntary voiding during sleep in absence of physical disease in child >5yo
1/month minimum for 3 months for diagnosis
Primary = havne’t yet had prolonged period of being dry
Second = has had prolonged dry period before
1. Defective sleep arousal
2. Nocturnal polyuria
3. Bladder factors - lack of inhibition of bladder emptying, reduced capacity, overactivity
Manage nocturnal eneuresis
Motivational therapy No fluids 2h before bed Eneuresis alarm Desmopressin - reduces urine production during sleep Treat underlying condition
Presentation of diabetes type 1
4Ts Thirst Toilet Tired Thin Peak age of onset 5-7yo and around puberty
Differentiate DM T1 and T2 on blood?
C peptide low in DM1, high until late in DM2
Manage T1DM
Admit immediately if suspect Ketones = emergency Insulin total daily requirement: 0.5-1u/kg/24h for pre puberty 1.5u/kg/24h pubertal Daily dose - 1/3 rapid, 2/3 long - 2/3 before breakfast, 1/3 before dinner As basal-bolus or continuous (change /3d) or arm monitor (change /14d)
Signs of too much insulin
Sweating, hunger, weakness, faint
Abdo pain, vomit, fit, coma
Diet requirements in DM1
Kcal requirement = 1000 + 100-200 per year of age
20% protein, 50% unrefined carbs, <30% fat
follow up for DM1
Motivational education
Check growth and fundi
Carb counting and insulin dose adjustment - DAFNE
Exercise
Puberty - growth spurt, hormones can cause some insulin in resistance
Nephropathy - urine dipstick for ACR - early morning sample
Retinopathy - for detachment
Manage hypoglycaemia
Mild/mod - oral glucose or gel
Severe - 5ml/kg of 10% IVI glucose or 0.5-1mg IV/IM glucagon
Causes of hypothyroid
Congenital - dyshormonogenesis, iodine deficiency, maldescent of thyroid, athyrosis
Acquired - Hashimoto’s, hypopituitary, trisomy 21, prematurity
Signs of hypothyroid
Asymptomatic - pos Guthrie test
Prolonged jaundice, widened posterior fontanelle
Poor feeding, sleepy, constipation, dry skin
Hypotonia, slow relaxing reflexes
Flat nasal bridge, protruding tongue
Low IQ, delayed puberty, short - if not treated
tests of hypothyroid
Low T4, high TSH
Low iodine uptake
Low Hb
Low bone age
Manage hypothyroid
Levothyroxine
Puberty trigger and hormones
By production of GnRH from hypothalamus, causing FSH and LH production
Types of precocious puberty
True = premature activation of HPA - gonadotrophic dependent
- small testes = CAH
False = from excess sex steroids - gonadotropin independent
Precocious puberty in girls - cause and inv and manage
<8yo
Normally idiopathic and familial
USS can establish cause
can give GnRH analogues to halt early ‘normal’ puberty
Precocious puberty in boys - cause and inv
<9yo
Usually organic cause
Exam testes:
- unilateral enlargement = gonadal tumour
- bilateral enlargement = intracranial lesion - MRI brain
- small testes = adrenal cause
Manage precocious puberty
GnRH analogues for girls to halt normal puberty
Manage underlying pathology
Manage behavioural issues associated with early puberty
Premature thelarche?
Breast development, age 6m-2y
Can be asymmetrical
No pubic hair or growth spurt
Non progressive and self limitng
Premature adrenarche?
Pubic hair <8yo in girls and 9 in boys
No other signs of sexual development
Normally fromearly maturation of androgen production by adrenal gland, can be adrenal hyperplasia or adrenal tumour - differentiate with urinary steroid profile
Usually self limiting
USS ovaries and uterus and bone age to exclude precocious puberty
Gonadotropin dependent causes of precocious puberty and test
Idiopathic/familial
CNS abnormalities - congenital (hydrocephalus), acquired (infection, irradiation, surgery), tumour (microscopic hamartoma)
Hypothyroid
LH ++ FSH +
Gonadotrophin independent causes of precocious puberty and test
Adrenal disorder - tumour, CAH
Ovarian tumour - granulosa cell
Testicular tumour - leydig cell
Exogenous sex steriods
FSH and LH low
What is delayed puberty and cause - 3
By 14yo in girls or 15 in boys
- Constitutional - just delayed
- Hypogonadotrophic hypogonadism - hypothalamus or pituitary problem
- systemic disease eg CF, crohn’s, anorexia
- hypothalamo-pit disorder eg tumour, Kallmans syndrome - Hypergonadotrophic hypogonadism - ovaries/testes aren’t responding - kleinefelter’s, Turner’s
Treat delayed puberty
Usually don’t need to
Testosterone (M) or oestradiol (F)
Sx of growth hormone deficiency
Small height
High cholesterol
Decreased muscle mass, poor bone density
Newborns = hypoglycaemia, small penis
Causes of GH deficiency - 5 and treat
Genetics Trauma Infection Tumour Radiation
GH replacement
Main 2 features of cerebral palsy and basic treatment
Dystonia - basal ganglia/thalamus pathology
Spasticity - cerebellar pathology
Rehab - physio, OT, orthopaedics, orthotics, muscle relaxants (baclofen targets GABA receptors), botulinum toxin (prevents nt Ach from axon endings at neuromuscular junction = flaccid paralysis)
What is cerebral palsy
Non progressive disturbance to foetal or infant brain <2yo - single incident in time
Abnormality of movement and posture, liming activity, can include learning disability and epilepsy
Causes of cerebral palsy and premature cause
Prenatal = 80% - vascular occlusion, cortical migration disorder of neutrons, structural maldevelopment
During delivery - hypoxic ischaemic injury
Postnatal - hypoglycaemia, meningitis, encephalitis, head trauma
Premature - periventricular leukomalacia = white matter necrosis near lateral ventricles
Clinical presentaitaon of cerebral palsy
Early - abn tone - abn limb/trunk posture - abn walking - delayed motor milestones - asym hand function before 12mo - feeding difficulties Primitive reflexes persist
Assess cerebral palsy functoin
Gross motor function classification system:
Level 1 - walks independently
2 - walks with some limitaiotan
3 - walks with handheld device
4 - selfmobility with limitations - uses motor device
5 - transported in manual wheelchair
Diagnosis of cerebral palsy
Clinical exam
MRI may show damage
Later = worse outcome due to deterioration in physical function (not neuro)
3 subtypes of cerebral palsy
90% - spastic - UMN, uni or bilateral, hemi/quad/diplegia (legs >arms)
Dykinetic - basal ganglia - kernicterus or HIE = chorea (irregular sudden brief), athetosis (slow writhing), dystonia (opposing muscle contraction)
Ataxic - hypotonia in trunk and limb, balance then uncoordinated, ataxia, tremor
Function of drugs in cerebral palsy
Botuinum toxin - prevents ACh release at nmj = flaccid paralysis
Baclofen = intrathecal,oral or epidural = gaba agaonist to reduce spasticity
epilepsy in children and why cause amnesia
Tendency to intermittent abnormal electrical activity in brain not related to fever - seizure = abn or excessive neuronal discharge
Commonly in hippocampus - oedematous from prolonged generalised tonic clonic seizure - sclerosis - amnesia
Features of different areas of focal seizures
Frontal - clonic movements
Temporal - lip smacking, deja vu, aura, smell change
Occipital - visual distortion
Parietal - contralateral altered sensation
Features of absence seizure
10s, can be in middle of sentence, eyes role up, can have some flickering of eyes
Unaware
Induced by hypoxia causing vasospasm - test by blowing out
Infantile spasms? And inv
West syndrome
Peak age 5yo
Head bobbing and arm jerks every 3-30s
Reduced IQ
Epileptic encephalopathy with progressive psychomotor dysfunction - multiform and irretractable seizures, cognitive regression and behavioural deterioration
EEG = hypsarrhthmia - high amplitude and irregular waves with spikes in background of chaotic and disorganised activity
Treat infantile spasm
Prednisolone
2nd - vigabatrin
Myoclonic seizure andtrt
1-4yo
‘Thrown to ground’ and brief repetitive jerking
Valproate
Differentials for epilepsy - 5
Migraine Arrhythmia Night terror Faint Tic
Causes of seeizures
Epilepsy
- 70% idiopathic, presumed genetic
- secondary = cerebral malformation or vascular occlusion or damage (inf, IVH)
- cerebral tumour
- neurodegenerative or neurocutaneous syndrome
Non-epilepsy
- febrile
- metabolic - hypoglycaemia , hypocalc, hypomagnesium, hypo/ernatraemia
- head trauma
- meningitis, encephalitis
- poisons, toxins
Diagnose epielepsy
History and eyewitness
EEG - may be normal, asym or slowing, try sleep deprivation or 24h tape/video-telemetry
MRI or CT - structural - if neuro signs between seizures, or focal seizures - tumour, vascular lesions, sclerosis
Functional - PET or SPECT for hypometabolism areas
Genetic study
Metabolic investigatiotns
Manage epilepsy
Not after 1 seizur
Only when causing significant inconvenience to life
Aim for monotherapy low dose
Give rescue therapy if prolonged - rectal diazepam or buccal midazolam
Discontinue when 2y seizure free
1st line for all generalised = valproate, 2nd = lamotrigine. Can use carbamazepine for tonic clonic
Focal - valproate or carbamazepine, lamotrigine but slow titration, 2nd - topiramate, levetiricitam
Other treatment options for epilepssy
Ketogenic diet
Vagal nerve stimulation
Surgery if well localised focus points, temporal lobectomy for temporal sclerosis
ADR of valproate, carbamazepine, lamotrigine, vigabitrin
Valproate - weight gain, hair loss, rare = liver failure
Carbamazepine - neutropoenia, hyponatraemia, rash ataxia, liver enz induction
Lamotrigine - rash
Vigabitrin - sedation, restriction of visual fields
febrile convulsions - epilepsy risk, what to do
1-2% risk - higher if neuro disorder, complex seizure or family history
Look for source of fever
Lorazepam IV, buccal midazolam or rectal diazepam after 5m for parents to give as rescue
>10m = status epilepticus treatmetn
Features of non-epileptic non-febrile seizures in kids
Breath holding - toddlers who are upset, crying, go blue and LOC with quick recover. No treatment needed, resolve spontaneous
Reflex anoxic - from pain, fever, fear causing vagal inhibition = cardiac asystole. Pallor, falls to floor, can cause tonic clonic from hypoxia - rapid recovery
Neurofibromatosis - cafe au lait spots
- bones = pseudoarthrosis, bone cysts, scoliosis, sphenoid hypoplasia
- eyes = lisch nodules, optic nerve glioma = blind
Tubular sclerosis - cortical tubers with disproportionate growth = block CSF flow causing hydrocephalus and ventriculomegaly = epilepsy, retina hamartomas. Can remove but other tubers will grow
Chiari syndrome - low lying cerebellar tonsils, often self correct with time. Crisis = sudden block of tonsils in foramen magnum = cardiorespiratory arrest and death
Agenesis of corpus callosum = infantile spasms, developmental delay, microcephaly, retinal lesions, onset 3-5m, females only
Dandy walker syndrome - aplasia/hypoplasia of cerebellar vermis = balance difficulties
What else to ask about if present with allergy
Eczema Allergic rhinitis Conjunctivitis Asthma Urticaria Insect sting hypersensitivity Anaphylaxis
What is hypersensitivity
Objectivity reproducible sx following exposure to a defined stimulus at a dose tolerated by normal people
What is allergy
Hypersensitivity reaction initiated by specific immunological mechanisms - IgE or non IgE eg coeliac
What is atopy
Personal or family tendency to produce IgE antibodies in response to ordinary exposure to potential allergens, usually proteins. Assoc with rhinitis, conjunctivitis, eczema, food allergies
Mechanisms of allergic disease and timings
Early <20m = IgE; late = intolerance, not IgE
Dendrite detects allergen, presents to T cells which release Th2 (IgE) and Il-5 which stimulate eosinophils
IgE antibodies bind to allergen, then receptor on mast cells or basophils. Cross link = release of inflammatory cytokines and chemicals eg histamine
Phases and features of allergy
Early - within minutes, from histamine release = urticaria, angioedema, sneezing ,bronchospasm
Late - 4-6h = nasal congestion of upper airways, cough, bronchospasm
Allergic rhinitis - sneeze, itchy runny blocked nose
Conjunctivitis - itchy watery red eyes
Hives - red raised itchy rash
Wheeze, tight chest, SOB, cough
Angioedema - swollen lips, tongue and eyes
Tummy pain, sick, vomiting, diarrhoea
Timing of different allergies
= allergic march
Infancy = food and eczema
Childhood = asthma, rhinitis, conjunctivitis
Prevention of allergy
Breast feeding exclusively for 3-4m reduces cows milk allergy and eczema
Probiotics
Exposure to microbes - hygiene hypothesis
Cause of secondary food allergy
Cross reactivity between protein
diagnosis of food allergey - 3
Skin prick test >3mm weal with salt watery control
Neg - very unlikely but Doesn’t rule out allergy if hx fits
Measure IgE in serum - RAST test
Ingest food under supervisor - test against placebo
Non IgE - harder to diagnose as less characteristic - depends on hx - sx = diarrhoea, vomitin, colic, blood in stool (allergic proctitis), GORD, food refusal. Cut foood out and change milk then slowly reintroduce
Severities f allergic rheinitsi and conjunctivitis
Intermittent - <4d a week or <4w at a time
Persistent - >=4d a week and >=4w at a time
Mild - normal sleep, daily activities and work/school
Mod - severe = disrupted sleep and daily activities, school/work, 1 or more troublesome sx
Manage sx of allergic rhintisi
Cough at night from postnasal drip - nasal spray (lateral and back, head down, 2 sprays in each nostril), sublingual - desensitised to decrease sx
Manage urticaria and angioeema
Urticaria - antihistamines, steroids if severe
Angioedema - maintain airway, antihistamines, steroids and adrenaline
Haematopoeisis sites and types of cell
Yolk sac <8w - liver - spleen - bone marrow from birth
Megaloblasts then macrocytes before birth, then normocytes after birth
Types of globin chains and haemoglobin
A and y before birth
Then a and B (increases after birth). By 18w = mostly a and b and hardly any y
4-8w gestation = Hb gower 1, Hb gower 2 and hb portland
After 8w gestation = HbF (2a2y)
What is HbF
2a2y
Higher affinity for o2 - advantage in hypoxic envt of foetus
Shorter life span - higher rate of haematopoeisis, predispose to neonatal jaundice
Hb level at birth and 2m after
14-21.5g/dl, decrease to 10g/dl at 2m
Causes of each type of anaemia and preterm
Iron, folic acid and vit B12 stores depleted in preterm babies so def in 2-4m
Microcytic - iron def, thalassaemia
Normocytic - chronic disease, acute blood loss, haemolytic anaemia, chronic renal failure
Macrocytic - B12/folate def, alcohol, liver diseae, hypothyroid, myeloma/myelodysplasia
Iron deficiency in kids - cause
Inadequate intake, malabsorapotin or blood loss
From breast milk (low content but 50% absorbed) or cows milk (low content and only 10% absorbed), little absorbed in solids. Must mix feeding from 6mo
Absorption increased with vit c, decreased with tannin in tea
If little improvement with supplements and dietary advice,inv for malabsorpoaitn (coeiac) or chronic blood loss (meckel’’s)
Tests for iron deficiency
Low MCV
Low MCH
Normal retic count
Low serum ferritin
Clinical features of iron def anaemia
Asymptomatic until <6-7g/dl
tired, pallor
Feed slowly, pica
What is red cell aplasia, 3 causes and 5 tests
Depletion of erythrocyte precursor cells 3 main types - congenital, transient erythroblastopoenia or childhood or parvovirus B19 Tests; Low retic count despite low Hb Neg Coombs Normal bilirubin Absent red cell precursors on bone marrow aspirate Do parvovirus serology
Causes of haemolytic anaemia - 4
Increased redcell destruction - intravascular or exxtravascula (liver, spleen)
RBC life span reduces to a few days and BM production increases x8
RBC membrane defect - Hereditary spherocytosis,
Enzyme disorder - G6PD
Haemoglobinopathies - thalassaemia, sickle cell
Immune - AI haemolytic anaemia, haemolytic disease of newborn
Exam for haemolytic anaemia
Anaemia
Hepatosplenomealy
Inv for haemolytic anaemia - 5
Increased unconjugated bilirubin Excess urinary urobilinogen Raised retic - polychromasia on blood film Abn blood film RBC shape Increased RBC precursors in BM
CAuses of anaemia in children
Increased destruction - haemolysis
Decreased production - RBC aplasia, ineffective erythropoeisis
Blood loss - GI or bleeding disorder
Bilirubin normal, retic normal or high in anaemia - causes
Blood loss or ineffective erythropoesis eg iron deficiency
Cause f anaemia with low retic
Red cell aplasia - parvo, leukaemia
What is hereditary spherocytosis and features
Diag and manage
Aut dom
Spectrin, ankyrin abn proteins in RBC membrane
Less deformable, block microvascularture in spleen
Jaundice, anaemia, splenomegaly, gallstones
Diag with blood film
Treat - oral folic acid as higher requirements, splenectomy >7yo if poor growth
requirements after splenectomy
HiB, men c and strep p vaccination
Lifelong penicillin prophylaxis
complicatiotn of spherocytosis and treat
Aplastic crisis - BM failure - no RBC
From additional parvo = 2 anaemia-inducing mechanisms
Treat with blood transfusion
What is G6PD and highest prevalenc
Africa, Mediterranean, Middle East
G6P = rate limitng enzyme in pentose phosphate pathway, essential for prevention of oxidative damage to RBC
Def = oxidant induced haemolysis
X linked inheritance
clinical manifestiaon of G6PD
Neonatal jaundice in first 3 days
Acute haemolysis precipitated by: inf, fava beans, drugs (antimalaraisl, antibiotics)
Diag G6PD and manage
G6PD activity in Rbc
May be misleadingly high during crisis As higher concentration of enzymes in reticulocytes
Educate parents about signs - jaundice, pallor, dark urine, and give list of drugs to avoid
What is sickle cell diseae and exacerbating factors
Mutation in beta-globin gene (HbS) - glutamate to valine - sticky hydrophobic pocket = sickle shaped RBC
Decreased life span, get trapped in microvascular causing ischaemia
EXacerbated by low oxygen, dehydration ad cold
Features of sickles cell and prognosis
Anaemia
Jaundice
Infection from encapsulated organisms (pneumococci, h influenzae) - due to hypersplenism secondary to chronic sickling and microinfarction in spleen
50% die before 40yo
Manage sickle cell
Prophylaxis: immunisations of pneumococcal, HiB and meningitis; oral penicillin, daily folic acid (higher RBC turnoveR)
Avoid cold, dehydration, excess exercise, hypoxia - minimise vaso-occlusive events
Hydroxyurea - increases HbF production, protective against sickle crisis
BM transplant - 90% cure rate, only if HLA-identical sibling
types of thalassaemia and prevalence where
B thalassaemia - reduced B globin, reduced Hb production, commonest in Indians
- major (no HbA, most severe) or intermedia (milder, small amount of HbA)
b-thalassaemia trait - usually asymptomatic, mild anaemia, confusion
a-thalassammis - major (hydrops), HbH (3a-globin genes affected), trait (1 or 2 a globin genesaffected - anaemia or asymptomatic)
Sx of b thalassameia
severe anaemia from 3-6mo, transfusion dependent
Failure to thrive
Extramedullary haematopoeisis - bone marrow expansion = facial features (bossing of skull and maxilla), hepatosplenomegaly - only if no transfusions
Manage and diagnose b thalassamia
Monthly lifelong blood transfusions to maintain Hb >10
BM transplant - HLA identical siblings - only cure
DNA analysis of Chorionic Villus Sampling if parents have traits
trait - hypochromia, microcytic anaeima, increased RBC count, raised HbA2
A thalassamia major -present and treat
Deletion of all 4 a gobingenes
Oedema and ascites in uutero from foetal anaemia
Requires intrauterine transfusions then monthly transfusions once born
What is ITP
commonest cause of thrombocytopoenia in childhood
Antiplatelet IgG autoantibodies destroy circulating platelets - may be increase in megakaryocytes in bone marrow as compensation
Features of ITP
PResent at 2-10yo
1-2w after viral infection
Petechia - small 1-2mm nonblanching red spots
Purpura - larger nonblanching red spots/blotched
Superficial bruising
Diag ITP and 2 differentials
Diagnosis of exclusion
Differentials: ALL or SLE
MAnage ITP
80% = Acute, benign and self limiting - remits in 6-8w
Treat if major or persistent minor bleeding
- with oral prednisolone or anti-D IV or IV Ig
Platelet transfusion if life threatening haemorrhage
Chronic ITP?
Platelets still low after 6m
Complications of blood transfusion (5) and manage
Iron overload: Heart failure Liver cirrhosis DM Infertility Growth failure
Treat with iron chelation
Inheritance and types of haemophilia
X linked recessive, but 30% sporadic
Haemophilia A - factor 8 deficiency = commonest
Haemophilia B - factor 9 def
Sx of haemophilia and manage
(If <1% factor 8) - recurrent spontaneous bleedin into joints and muscles - can cause arthritis
Prolonged bleeding
Mostly present at 1yo
recombinant factor 8/9 given IV when bleeding
Avoid IM inj, aspirin and NSAIDs
Prophylaxis if severe haemophilia to reduce chronic joint damage
Desmopressin stimulates production of factor 8 and vWF
Complications of haemophilia - 3
Transfusion transmitted inf- hep b/c, HIV
Vascular access - may be hard, central lines = thrombosis or infected
Antibodies to factor 8/9 develop in <20% - will need very high doses to treat bleeding
What is Von willebrand factor and disease
Facilitates platelet adhesion
Carries factor 8
Disease = quantitative or qualitative deficiency of vWF = can’t form platelet plug
Inheritance of Von willebrand diseae
Aut dom
Features of vonwillebrand and difference from haemophilia
Bruising, excessive prolonged bleeding, mucosal bleeding
Uncommon to get spotaneous soft tissue bleeds which you get in haemophilia
manage Von willebrand disease and ADR
Depends on type and severity
Mild - desmopressin - increases factor 8 and vWF in plasma
- cautious <1yo as can lead to hyponatraemia and seizures
Severe - plasma derived vWF as desmopressin is ineffective
Avoid IM, aspirin and NSAIDs
Organ infiltration from leukaemia
BM features and bone pai
Reticuloendoteial - hepsplen and lymph
Testicular
CNS - headache, vomitin, nerve palsies
image for leukaemia
T cell disease = mediastinal mass on cxr
Most common leukaemia in kids and prognostic factors
ALL = 80%
Poor prognosis if <1 or >10yo, high WBC, slow response to chemo
Manage ALL
Correct anaemia with transfusion
Protect kidneys with allopurinol and fluids
Combo chemo - eradicates leukaemic blasts and restores normal marrow function - for 2-3y
- 95% success
May need intrathecal chemo as cytotoxic drugs penetrate brain poorly
Co-trimoxazole to prevent pneumocystis carinii pneumonia
Brain tumour types
Most common solid tumour in children, leading cause of cancer death
Almost always primary
Astrocytoma (cortex and spinal cord), medulloblastoma (cerebella)
Sx of brain tumour
From RICP - headache, vomiting, behavioural/personality change
Visual disturbance
Exam: papilloedema, tense fontanelle, increased head circumference
Developmental delay
Inv brain tumour
MRI for biological activity
LP - With neurosurg advice only
Manage brain tumour and aim
Surgery - first line
- to treat hydrocephalus, biopsy (not if brainstem tumour) and resection
CRT - depending on tumour type and age of patient
Diagnose juvenile idiopathic arthritis - 5
- <16yo
- > 6w
- 1+ joint
- Rule out other causes eg septic, Perthes, post-trauma arthritis
- Clinical or X-ray sx
Variation in JIA
Oligo, polyarticular or systemic
Flares of a few weeks or more
Inv JIA
RhF, ANA
Anti-CCP - pos = more intensive treatment
X-ray
High risk for uveitis - screen regularly until 10yo
Examine for other AI signs - nails, hand pain, joint movement pain, scoliosis, ulcers, uveitis
Manage uveitis in JIA and complications
Methotrexate and steroid eye drops
Causes RICP, glaucoma, cataracts
Long term = sclerosis, fixed/different sized pupils
Treat JIA
NSAIDs
Steroid injections
Physio
Methotrexate - weekly, long term, start early to reduce joint damage
Systemic corticosteroids - pulsed IV as induction if severe
Biologics if severe/refractory to methotrexate
Long term progression of JIA and complications
Synovial thickening from inflammation takes a long time to decrease but fluid will clear quickly
Chronic inflam - vascularise - increased growth - leg length discrepancy
1/3 continues into adulthood
Untreated = joint destruction, flexion contractures
Growth failure from anorexia, chronic disease, systemic corticosteroids
Genetic testing mechanisms - 3
Maternal blood sample
Pre implantion genetic testing
Amniocentesis
Risk of genetic defect
Consanguinity increases risk from 2-3% to 5% of major birth defect
1/1400 eggs have de novo mutation
1/400 sperm have mutation , 75% due to paternal age
Types of mutation and inheritance
Mendelian - aut or sex linked Non-Mendelian - imprinting (problem from not inheriting what’s necessary) = maternal 15 = angelman’s, paternal 15 = prader-willi - mitochondrial - maternal - multifacorial
Inheritance - structural = dominant, metabolic = recessive
Counselling features for genetics
- Diagnose
- Estimate risk
- Communicate to family
Clinical features of downs
Round face, flat nasal bridge, upslanted palpebral fissures
Small mouth and protruding tongue, small ears
Flat occiput
single palmar crease, inturned 5th digit, wide sandal gap
Hypotonia, duodenal atresia, Hirschprung’s
CHD - AVSD, ASD, VSD
Hypothyroid, impaired vision and hearing
Long term problems fro down’s
Delayed development
Learning difficulties
Small stature
Increased infection risk and leukaemia
Epilepsy
Atlanto-occipital instability
Inv down’s syndrome
FISH technique - tell parents
Edward’s syndrome
Trisomy 18, USS 2nd trimester then amniocentesis and chromosome analysis
Low birthweight
Prominent occiput, small mouth and chin, short sternum
Flexed overlapping fingers, rockerbottom feet
Cardiac and renal malformation
Patau’s syndrome
Trisomy 13, midline defects
2nd trim USS then amnio and chromosome analysis
Structural brain defect, scalp defect, micropthalmia and other eye defects
Cleft lip and palate
Polydactyl
Cardiac and renal malformation
Prader willi, sx and manage
Random deletion of paternal chromosome 15, disrupting normal hypothalamus function
Hypotonia at birth
Distinctive facial features
Reduced growth, lack of sexual development
Learning difficulties and developmental delay, behavioural problems
Excessive appetite leading to dangerous weight gain
Manage: feed (initially poor), weight and diet, exercise, undescended testes, hormones, structure and routine
Angelman syndrome, sx, diag and manage
Deletion or malfunction of maternal chr15, affecting nervous system = physical and intellectual disabity severe
Delayed development at 6-12m, mobility problems
Distinctive behaviours and features
Feeding difficulties and reflux
Diag - FISH, chromosome analysis, dNA methylation, gene mutation analysis
Manage: Communication and behavioural therapy Physio and back brace/spinal surgery for scoliosis Ankle/foot orthoses Anti-epileptics
Turners syndrome features and when dianosed
45XO
Antenatally - foetal oedema of neck, feet and hands
Short, webbed neck, wide spaced nipples
Lymphoedema of hands and feet in neonates
Spoon shaped nails
CHD - coarctation, aortic root dilatation, bicuspid aortic valve
Puberty delayed, infertile as ovarian dysgenesis
Normal intellect
Manage turners
Growth hormone therapy
Oestrogen replacement
Kleieefelter’s features
47XXY
Infertility (first presentaiton) and hypogonadism and small testes
Gynaecomastia, female-like pubic hair distribution
Poor muscle tone
Tall
Normal intellect but some educational/psych problems
Features of Noonan syndrome
Aut dom Characteristic facies Short webbed neck, pectus excavatum, short stature CHD - pulmonary stenosis and ASD Mild learning difficulties sometimes
DiGeorge syndrome?
CATCH22 Cardiac abn - esp tetralogy of fallot Abnormal fascies Thymic aplasia Cleft palate Hypocalcaemia, hypoparathyroism 22q deletion
What is fragile x and sx
Trinucleotide repeat disorder of X chromosome Sx worse in males: Learning difficulties, autism Long thin face with large low set ears High arched palate Macro orchidism Hypotonia Females = normal to mild sx
Airway problem with genetic condition?
Pierre-robin syndrome - posterior displacement of tongue
William’s sndrome sx
Short stature Transient neonatal hypercalcaemia Supraclavicular AS Friendly, extrovert personality Learning difficulties
What is duschenne muscular dystrophy
X linked recessive
Deletion of dystrophin gene which connects muscle fibre cytoskeleton to surrounding extracellular matrix through cell membrane
Causes calcium influx, breakdown of calcium calmodulin complex and excess free radicals = myofibre necrosis
Causing elevated plasma creatine kinase
Sx of DMD - 4
Waddling gait
Gower’s sign
Language delay
Pseudohypertrophy of calves due to replacement of muscle fibres by fat and fibrous tissue
Prognosis of DMD
Not ambulance by 10-14yo
Death from resp failure and associated cardiomyopathy in late 20s
Manage DMD - 4
Physio and splints to prevent contractures
CPAP at night for weakness of intercostal muscles causing nocturnal hypoxia
Glucocorticoids - preevent scoliosis and preserve mobility
Gene altering drugs to skip nonsense mutation and produce small amount of dystrophin
Achondroplasia sx and inheritance
Aut dom, 50% de novo Short stature due to limb shortening Large head with frontal bossing Depression of nasal bridge Short and broad hands Lumbar lordosis Hydrocephalus
Marfans sx
Aut dom condition of CT
Tall, long thin limbs, arachnodactyly
Arm span greater than height
Hyperextensible joints
High arched palate
Upwards dislocation of lenses, severe myopia
Chest deformity and scoliosis
Complication of marfans
Degeneration of media of vessel walls - dilated incompetent aortic root - valvular incompetence, mitral valve prolapse and regurg - aortic aneursym may dissect or rupture Monitor with echo
PKU
Learning difficulties, seizures, microcephaly
Testing in newborn screening
Manage with phenylalanine restricted diet and anticonvulsants
Birth defect associations
[VACTORL] Vertebral Anorectal Cardiac Transoeosophagela fisttula Oesophageal atresia Renal Limb
ALL blasts
> 20% of BM, should be 1-2%
Cause of auer rods
AML, from myeloperoxidase, seen in blasts
Sx of adenotonsilar hypertrophy
Excess pharyngeal lymphoid tissue = OSA, snoring, mouth breathing, recurrent inf
Surrounding structures collapse when asleep = worse
ALL B cell genetics and treatment
Philadelphia - adults - poor prognosis
12;21 - children - good prognosis
Chemo
RF for glue ear
Boys Down’s syndrome Winter Cleft palate Atopy
Exam for glue ear
Retracted or bulging drum
Grey/yellow
Fluid level
Cause of CML and progression
CML = BCR:ABL tyrosine kinase = increased cell division of myeloid cell (allows progressions through cycle without check points)
Increased granulocytes and monocytes
Build up = hepatospenometaly, more risk of mutations = progress to AML = blast crisis
What is CLL and progression
B cell receptor interference - makes all the time, not just infection
Smudge cells
Build up in lymph system (come from blood) = lymphadenopathy
Can form tumour = non-hodgkin’s lymphoma = richter’s transformation
Sx of chronic leukaemias
Fatigue, infection, bleeding
Lymphadenopathy in CLL
Hepatosplenomegaly in CML
Also hyperuricaemia (gout) and hyperviscosity sx
Manage glue ear and ADRs
active observation for 3m
Auto inflation through balloon in nose
Surgery if persistent and bilateral, significant hearing difference, or getting worse
- grommets for 3-12m and recheck hearing after. ADR = infection, tympanosclerosis, need ear plugs to swim
Lymphoma? type of cell
Solid mass in lymph node
B cells more common - mostly diffuse large B cell, very aggressive
Burkit’s - EBV - starry sky appearance to microscope
Hodgkin’s - alcohol assoc pain, reed-sternberg cells
Lymphoma presentation
Bowel obstruction
SC compression
BM failure
From lymphoma proliferation around body
Pathogens in otiismedia
RSV, rhinovirus
Pneumococcus, H influenze, moraxella
What is tonsiliis
Pharyngitis with intense tonsillar inflammation often with purulent exudate
From group a b-haemolytic strep (systemic sx) or EBV
EBV-caused blood cancers - 2
Burkitts or Hodgkin’s
treat tonsilitis ad indications
Pen V PO or IV benzylpenicillin for 10d to avoid rheumatic fever and post strep glomerulonephrittis
Tonsillectomy:
- 7 in 1y
- 5 in 1y for 2y
- 3 in 1y for 3y
- 2w of lost school in 1y
- peritonsillary abscess - 4-6w after treated, or 2nd attack
- febrile seizures
- hypertrophy = airway obstruction, difficulty in delutination, interfering with speech
- suspicion of malignancy - unilateral enlarged = ?lymphoma
What is nappy rash and treatment
irriantcontact dermatitis if not changed regularly or diarrhoea
W shaped, flexures/skin folds spared
Erythematous and scalded appearance
Trt - dry and clean, protective emollient, mild topical steroids
Differnetial for nappy rash and treat
Candidiasis - includes flexures, anterior perineum and perianal
Satellite lesions = pathognomic
Widespread, vividly red, sharply bordered
Triggered by systemic abx
Treat - topical fungal (nystatin), oral nystatin to clear GI tract infection, cotrimoxazole cream
Common scalp condition in babies
Seborrhhoeic dermatitiss - cradle cap <2mo, unknown cause Thick yellow scales on forehead, scalp - also neck, ears, nappy area and skin folds Not itchy, child not disturbed Most resolve alone +- emollient
Small raised yellow bumps on face
Pearly-white, yellow
Nose, cheeks, eyelids, forehead, chest
Retention of keratin and sebaceous material from pilosebacious glands which are not fully formed
- sebum = white, sweat = yellow
Harmless, disappear in a few weeks, very common
Large red tumour, complications and treatment
Cavernous haemangioma - strawberry naevus
More common in females, low birth weight, premature, multiple gestations
At birth or first few weeks, as flat red area, then develops raised dimple lesion, grow up to 4x size until 4y then regress - first sign is pale area in centre
Cutaneous or internal - liver, heart, trachea, brain
Very large can cause left to right shunt and HF
Treat with b blockers if airway/brain/vision effected, as inhibits VEGF
Port wine stain?
Vascular malformation of developmental origin, ectasia of superficial dermal capillaries
Most often on face and unilateral with cut off distinct
Flat at birth, darken and thicken with age
Treat with laser if disfiguring
Assoc with congenital glaucoma and sturge-Weber syndrome
What is raised, pearly papules with central umbilication
Molluscum contagiosum, from DNA pox virus
PAinless or itchy
Disappear in a few months
Red rash on day 2-3
Erythema toxicum neonatorum
Harmless, disappears by day 5-7
Never in preterm babies
Firm yellow/white small raised bumps filled with pus - eosinophils- on dark red area of skin
Concentrated on trunk but begin on face - differentiate from lamp erythema which is only on exposed areas
Never on palms and soles
What is Mongolian blue spot
Dermal melanocytosis
Blue/black pigmented lesion/birth mark present at birth or first couple of months
80% lumbosacral, usually afrocaribbean or Asian babies
From trapping melanocytes in dermis during migration from neural crest to epidermis
No colour/size change with time - differentiate from bruise
What is naevus simplex
‘Stork bite mark’ 30-50% of children
Forehead, eyelids, nose and back of head
Distension of dermal capillaries
Fade in 12m (except bac of head and neck)
Acne in babies and manage? And assoc complicatiotns
Maternal oestrogen and progesterone
Isotretinoin, plus steroid for first 5d to prevent initial flare
Can also cause PV bleed or distended abdo from uterine dilatation in females for up to 6w
What is neonatal pustular melanosis
Heals with time, doesn’t need abx
Will leave brown marks
Causes neutrophilia
Eczema and managemet
Punched out erosions - risk of infection Can present at weaning - assoc with allergey Cream - water based (alcohol preservatives sting) Ointment - oil based Emollient to wash in Topical steroids: - mild = hydrocortisone - moderate = clobetasone butyrate - potent = betnovate - very potent = dermatovate Wet wraps and topical emolients
ADR of steroids for eczema
Striae
Petechia
Atrophy
Systemic if full body long term
complication of eczeema
Eczema herpeticum
Can cause blindness if aoraund eyes
What is impetigo and treatment
Localised highly contagious staph +- strep inf
Lesions on face, neck and hands
Red macules - rupture - yellow crusty lesions (spread rapidly)
Manage - topical abx, oral flucllox if severe
Avoid school until lesions are dry
Causes of rash with fever
Viruses - roseola infantum, slapped cheek, measles, rubella
Bacteria - scarlet fever, rheumatic fever, Lyme disease, salmonella typhi
Others - Kawasaki, JIA
Sudden high fever and generalised rash
Roseola infantum: Human herpes virus 6
40 degree for 3-5d +- sore throat, runny nose, cough, diarrhoea, swollen eyelids
Generalised macular or maculopapular rash on trunk and neck +- limbs after temperature settles - for 1-2d
Cervical lymphadenopathy
Complication = febrile seizures
red cheeks sparing nasal and periorbital regions
Slapped cheek syndrome - parvovirus B19
Common in spring
3 phases:
2-4d = bright red erythema over cheeks sparing nasal, periorbital, perioral regions
Next 1-4d = erythematous macular to morbilliform eruption affecting extensors
Days to weeks - fades and leaves reticulated lacy pattern
Complications of slipped cheek syndrome
Adults = arthralgia and arthritis
Aplastic crisis, foetal hydrocephalus and death
Rubella ?
Respiratory aerosols transmission, generally benign erythematous, 50% asymptomatic
Younger = mild constitutional sx, erythematous rash, sub occipital adenopathy, eye pain and conjunctivitis
Older = arthralgia, arthritis, thrombocytopoenia Purpura
Incubate 14-21d
Over 3d:
1. Exanthum on neck, spread to trunk and extremities within 24h
2. Begins to fade
3. Disappear
Measles
Very contagious, 90% secondary
Resp droplets or small particle aerosols, infectious before and after rash - exclude from school for 4d from rash onset
Incubate 7-10d then 3Cs: Cough, Coryza, Conjunctivitis
Maculopapular rash 2-4d after fever, starting on face with koplik spots in mouth, spread to trunk and extremities
Complications of measles
Immunodeficiency - secondary bact and viral inf
Resp - pneumonia, tracheeitiss
Neuro - febrileseizures, encephalitis, subacute sclerosing pannencephalitis
Other - corneal ulceration, diarrhoea, hepatitis, myocarditis
Sore throat, fever, strawberry tongue
Scarlet fever - group a b haemolytic strep
5-15yo, aerosol or skin contact, 1-4d incubation
Sore throat, headache, fever, flushed cheeks, rough red rash after 12-72h then fades and peels (desquamation) after 3-4d
Complications of scarletfever
Rheumatic fever
Glomerulonephrittis
Erythema nodosum
Long fever and conjunctivitis and rash
Kawasaki disease - CRASH
Conjunctivitis bilateral
Rash polymorphous
Adenopathy - acute non purulent lymphadenopathy esp cervical
Strawberry tongue or red cracked lips/mucosa
Hands and feet changes - red soles and desquamation
>5d fever
Manage Kawasaki diseae
High dose aspirin for 2w or until afebrile
IVIG within 10d of onset, once diagnosed and can repeat after 48h if no improvement
Angiography for coronary artery aneurysm risk
Shedding skin in infants and newborns
Scalded skin syndrome - staph a - toxin damages outer layer of skin
Immature immune system
Widespreadpatchy red rash with little blisters and progresses rapidly to cover up mos of skin surface = raw painful patches
Fever
Abx IV fo 2d then PO
Clean skin with soap substitute, moisturise and analgesia
What does herpes simplex virus cause
Through mucous membranes or skin - local damage
- asymptomatic
- gingivostomatitis - vesicles on lips, gums, anterior tongue, hard palate - cna’t eat or drink - with fever, can last 2w
—- PO/IV aciclovir, analgesia
- cold sores
- eczema herpeticum - widespread vascular lesions on eczematous skin = emergency
- herpetic whitlow
- blepharitis or conjunctivitis
- meningitis. Or encehalitis
chickenpox
Varicella zoster - herpes virus 3
Airborne resp droplets and direct vesicle contact, 10-21d transmission
Rash on face, torso and scalp then resto f body - vesicles with erythematous halo then central umbilicatiotn and crusting - see all stages a same time
Resolves spontaneously i 4-10d, exclude from school for 5d from onset/ until no more vesicles
Complications of chicken pox
Secondary bact inf - staph or strep - if persistent high temp
- toxic shock or necrotising fasciitis
Encephalitis - mostly cerebellitis,aseptic meningitis - a week after rash onset with cerebellar signs
Immunocompromised = disseminate - haemorrhagic lesions, pneumonitis, DIC
Give aciclovir if exposed and ISS
Red spots on tongue and hands
Hand foot and mouth - cocksackie a16
<10yo
High fever,cough,sore throat, stomach ache
Red spots on tongue/inside mouth then yellow/grey ulcers
Hands and soles - spots become blisters
HSP sx
Acute IgA mediated disorder of generalised vasculitis - small vessels of skin, GI, kidneys, joints,lung, CNS
Headache, anorexia, fever
Rash on legs and buttocks: Erythematous andmacular/urticarial - blanching papules - nonblanching palpable Purpura
Colicky abdo pain and vomiting, haematemesis, meleana
- steroids if severe
Joints - tender,, swollen and painful knee/ankle - no warmth, erythema and effusion
SC oedema
Testicular swelling (and can cause torsion )
Renal involvement -haematuria, nephrotic syndrome, can progress to CKD and hypertension - renal biopsy to determine treatment
Monitor after HSP
BP and urine for 6m as renal involvement can prevent late
Manage HSP
NSAIDs if renal function good and platelet production good
Steroids if complications
Follow up for renal complications
Meningococcal septicaemia
Neisseria meningitidis in blood stream, droplet spread with prolonged exposure
Rash - erythematous or maculopapular then petechia and purpura
Fever, malaise, vomiting, headache, drowsy then cerebral oedema
Meningococcaemia pathology - 4
Microvascular injury from endotoxins:
Vascular permeability increases hypovolaemic shock
Vasoconstrictor and vasodilation = blue and cold, or warm peripheries with bounding pulse and acidosis
Loss of thromboresistance and intravascualr coagulation causes purpura, infarction, gangrene
Myocardial dysfunction causes hypotension and electrolyte disturbance
Causes of meningitis
N men, strep Pn, h infl GBS, E. coli in neonates Chemo Fungi, virus Invade meningitis from blood - infl and leak of proteins cause oedema, alter cerebral blood flow and metabolism Endotoxins causes endothelial damage
What is glandular fever, sx and diagnosis and treatment
Infectious mononucleosis
EBV
Petechiae on palate, fever, malaise, tonsillitis/pharyngitis, lymphadenopathy, hepatosplenomegaly
Diag - atypical t lymphocytes on blood film, positive monospot test
Trt - symptomatic, corticosteroids if airway compromised. Penicillin if group a strep on tonsils, but NOT amoxicillin as can cause maculopapular rash with group a strep
Features of ADHD
Inattention hyperactivity and impulsivity
Age inappropriate
<7yo onset and duration >6m
IQ>50
Home and school/nursery, directly observed
Doesn’t meet criteria for developmental abn, anxiety or mania
Manage ADHD
PArental support and psych education
CBT if school age
Social skills training
Methylphenidate (Ritalin - CNS stimulant to increase mood and concentration), then atomoxetine (NA reuptuake inhibitor - takes longer to work)
- ADR headache, insomnia, loss of appetite
Inv ADHD
Hyperthyroid
Hearing test
What is conduct disorder
Persistent pattern of antisocial behaviour,, poor prognosis for antisocial PD
treat with parental management,family therapy, and management
Autism features
- Social interaction
- Communication
- Behaviour and interests restricted, stereotyped and repetitive
Signs of abn/impaired development <3yo
Not attributable to other developmental disorder
RF for autism
Maternal age Maternal drugs eg valproate Premature Hypoxia at birth Male Family history
Autism differentials
Learning disability
Asperers - but no language or intelligence abn
Rett - girls, severe progressive
Deafness
Screen for autism and manage
CHAT- features in toddlers Key worker assigned Parental education CBT social skills training Modify environment Special schooling Support groups
Rf for bronchiolitis
CLD, CHD
<32w
<3mo
Immunodeficiency
CF presentation in neonate, infant and child
Neonate - Guthrie, meconium, jaundice
Infant - recurrent chest inf, steatthorea, failure to thrive
Child - nasal polyp,rectal prolapse, bronchiectasis
Hypoglycaemia in neonate - what level
<2mmol/l
Stool in hyperbilirubinaemia
Chalky, white stools
What is haemolytic disease of newbordn
Maternal IgG specific to abo blood group antigens pass through placenta and case haemolysis
In first baby, no worse in subsequent pregnancies
complication of meconium aspiration
Pneumothorax
Commonest cause of RDS in newborn
transient tachypnoea of newborn
Conditions assoc with autism
Fragile x
Tourette’s
Epilepsy
Complicatiotns of gastroenteritis - 2
Haemorrhagic e coli - can cause haemolytic uraemic syndrome
Post-gastroenteretis syndrome - lactose intolerance
What is antiTTG type of Ig?
IgA
bed wettin differentials - 3
UTI
Impaction
Osmotic diuresis from diabetes
- urine dip
Causes of daytime enereiss
Lack of bladder sensation - development, psychogenic Neuropathic bladder UTI Constipation Ectopic ureter
4 causes of nephrotic syndrome
Vasculatides - HSP
Goodpasture’s
IgA nephropathy after URTI
Familial nephritis - alport’s
Features to ask if suspecting familial nephritis
Sensorineural deafness
Ocular defects
End stage renal diseae in early adulthood
X linked recessive
UTI in kids - sx and RF (4)
50% underling structural abnormality
Diarrhoa, vomit
Increased risk of UTI if - infrequent, hurried, constipation, VUR
Simple vs complex febrile convulsion
Simple: <15m, no other in 24h, no neuro problem, generalised
Complex: >15m, more than 1 in 24h, focal neuroo
When to start sc insulin after dka - 4
Clinically well
Drinking
pH normal
Ketones <1
Imagin for UTI
<6mo - always USS - during acute infection if recurrent or atypical, or within 6w if typical and recover within 48h
>6m - USS during acute infection if atypical, or within 6w if recurrent
follow all atypical/recurrent up with DMSA in 4-6m unless atypical >3yo (no need)
Investigations in newly diagnosed diabetes
TFTs
coeliac screen
hbA1c
Islet cell autoantibodies
What is polycysic kidney disease and inheritance
Aut recessive
Cystic dilatation of collecting ducts
Assoc with congenital hepatic fibrosis - with biliary disgenesis and perioportal fibrosis
Can lead to pulmonary hypoplasia
= hyponatraemia, hypertension and renal failure
UTIs, portal hypertension with haematemeis
What is abdo tumour in kids and inv and treat
Wilm’s nephroblastoma, undifferentiated mesoderm
Down regulates IGF-2
<4yo, painless palpable abdo mass
Fever, flank pain, haematuria, hypertension
USS renal pelvis distortion and hydronephrosis
CT/MRI for surgery planning
Nephrectomy and chemo
What is rheumatic fever
Group a b-haemolytic step
Causes heart valve disease, erythema nodosum, polyarthritis
Major and minor criteria in Jones diagnostic criteria
Treat: Aspirin, prednisolone
