Paeds Flashcards
Normal obs in a neonate
Heart rate: 120-160
Resp rate: 30-60
BP: 60/30 - 90/60
Normal obs in infants, school age, adults
Infant
HR - 100-160
RR - 30-40
School age
HR - 70-120
RR - 18-30
Adult
HR 60-100
RR 12-20
What is epiglottitis and what is its main cause?
Life threatening emergency.
Swelling of epiglottis - can completely block airway in hours, typically caused by Haemophilus influenza B. (incidence decreased due to Hib vaccine)
Presentation of epiglottitis
Much more rapid onset than croup
- Fever, sore throat, stridor
- Drooling (painful throat prevents swallowing)
- Tripod position (sat forward with hands on knees - easier to breathe)
- Difficulty/painful swallowing and muffled voice
Investigations of epiglottitis
Direct visualisation by senior staff (to not distress patient)
Lateral X ray of neck shows “Thumb sign” (Swollen eipglottis pressing on trachea like a thumb)
Management of epiglottitis
- Immediate Senior Bleep to those able to provide airway support (Endotracheal Tube may be needed from anaesthetics, ENT etc).
- Oxygen
- IV Abx and steroids
Do not examine due to risk of airway obstruction
What is croup, and what is its most common cause?
Acute URTI causing oedema in the larynx of young children (6m-2y)
Parainfluenza virus most common
(AKA Laryngotracheobronchitis)
Presentation of croup
Usually preceded by non specific cough, rhinorrhoea etc.
- Harsh barking cough, worse at night
- Stridor (do not examine throat if stridor - may precipitate airway obstruction)
- Fever
- IWOB
Give signs of IWOB
- Nasal flaring
- Intercostal and subcostal recessions
- Tracheal tug
- Use of accessory muscles
- Head bobbing
- Grunting
- Increased resp rate
Investigations of croup
- Clinical diagnosis (dont examine throat)
- Posterior-anterior X Ray - steeple sign (subglottic narrowing)
Management of Croup
Single oral dose of oral dexamethasone (0.15mg/kg) to all children regardless of severity.
Should resolve in 48 hours.
If not, or if severe, oxygen + Nebulised adrenaline
What cause of Croup goes on to cause epiglottitis
Croup caused by diphtheria causes epiglottitis and has a high mortality
Causes of HAP
Early (<5 days admission) - S pneumoniae
Late (>5 days admission) - S aureus, gram negative bacteria (P aeruginosa, H influenzae)
Causes of CAP (bacterial, viral and fungal)
Bacterial
- S pneumoniae (most common)
- H influenzae
- S aureus
Viral
- Influenza virus
- Parainfluenza
- RSV
Fungal
- Chlamydia trachomatis
Management of pneumonia in children
- Amoxicillin first line.
- Macrolides used if jirovecii or chlamydia.
- Co-amoxiclav if influenza
Most commonly affected lobe in pneumonia
Right middle/lower due to it being wider and more vertical than left bronchus, facilitating aspirate passage
What is pneumocystis pneumonia?
Unicellular eukaryote - opportunistic infection in AIDS. Causes extra pulmonary manifestations (Hepatosplenomegaly, lymphadenopathy and choroiditis)
What is bronchiolitis? What is its main cause?
Acute bronchiolar inflammation usually caused by RSV. Most common LRTI in under 1s.
Maternal IgG from breast feeding usually provides protection against RSV
Risk factors for bronchiolitis
- Formula fed, or breastfed <2 months (less maternal IgG)
- Smoke exposure
- Immunodeficiency
- Siblings in school
How does bronchiolitis present
- Dry cough
- Increasing breathlessness
- Wheezing w/ fine inspiratory crackles
- Difficulties feeding due to dyspnoea
- Coryzal symptoms (fever, rhinorrhoea, blocked nose, watery eyes)
When should referral be considered in bronchiolitis? And when is it immediately urgent
- Resp rate >60
- Inadequate intake or clinical dehydration
Urgent
- Apnoea
- Severe resp distress
- Central cyanosis
- O2 sats <92
- Unwell looking
How is bronchiolitis investigated and treated?
Clinical diagnosis, nasopharyngeal secretions may show RSV
Supportive management
- Humidified oxygen via nasal cannula if O2 <92%
- NG tube feeding
- Suction if excessive upper airway secretions
What is Cystic Fibrosis
A phenylalanine deletion on the CFTR (CF transmembrane conductance regulator) gene on chromosome 7, causing secretions to become much thicker. Mainly affects pancreas and lungs.
Autosomal recessive.
How does CF affect the pancreas and the lungs
Pancreas - thick pancreatic and biliary secretions block ducts, causing pancreatitis (autodigestion), cholangitis and lack of digestive enzymes in GI tract.
Causes failure to thrive, steatorrhoea and endocrine dysfunction e.g. CF diabetes.
Lungs - Impaired mucociliary clearance. Causes an obstructive pattern and thick immobile secretions = repeat S aureus and P aeruginosa infections.
Earliest presentation of CF in neonates?
Meconium ileus - Meconium isnt passed and instead causes a blockage in the intestine.
Clinical features of CF
- Meconium ileus
- Chronic cough, wheeze and recurrent infections (S aureus, P aeruginosa and H influenza)
- Nasal polyps and sinusitis
- Pancreatic insufficiency (steatorrhoea, malabsorption)
- GORD
- Clubbing
Investigations of CF
- Newborn guthrie heel prick screening (Immunoreactive trypsinogen)
- GOLD: Chlorine sweat test. Pilocarpine induces sweating. Sweat has more chlorine (>60mmol/L)
- Faecal elastase (pancreatic insufficiency)
CF Lifestyle advice
- High calorie, high fat diet
- No smoking
- Regular exercise and physio
- Flu vaccines
Respiratory management of CF
- Chest physio and exercise
- Bronchodilator (Salbutamol)
- Mucolytic (Dornose Alfa)
- Nebulised Tobramycin if pseudomonas
- Prophylactic flucloxacillin for life
Digestive management of CF and problems caused by it (5)
- High calorie high fat diet
- Fat soluble vitamins (ADEK)
- Pancreatic enzyme replacement (Creon)
- PPI - omeprazole
- Ursodeoxycholic acid (make bile more soluble)
Complications of CF + life expectancy
Life expectancy <40
CF related diabetes
Liver/biliary cirrhosis
Recurrent URTI
Malabsorption
- Delayed puberty
- Osteoporosis
- Infertility
What is otitis media and what is it caused by?
Inflammation of the middle ear (between tympanic membrane and oval window).
Most commonly secondary to viral URTI (RSV and rhinovirus) but ear infection is bacterial (S. pneumoniae, Moraxella catharallis, H influenzae, S aureus)
How does Otitis media present and what would you see on examination?
- Earache and tugging on ear
- Fever, hearing loss, discharge
On examination
- Tympanic membrane is red and bulging outwards. Loss of light reflex
- May be perforation and discharge
Management of Otitis media
Usually self limiting (3 days)
Give Abx if:
- >4 days and no improvement
- Systemically unwell
- immunocompromised
- If under 2 and bilateral otitis media
- Discharge or perforation
Define otitis externa with some main risk factors and causative bacteria
- Infection of the outer ear canal.
- Swimming, hot/humid climate, trauma, use of hearing aids/earplugs
- P aeruginosa, S aureus.
Presentation and examination of otitis externa
- Ear pain, itching, hearing loss, fullness in ear
- Tender pinnus/tragus, normal tympanic membrane
What is glue ear? What can unilateral glue ear suggest?
Otitis Media with Effusion. Chronic ear infection or eustachian tube dysfunction can cause a build up on viscous inflammatory fluid, causing conductive hearing loss.
Unilateral OME can suggest a middle ear tumour.
How does glue ear normally present and what do you see on examination?
- Conductive hearing loss and aural fullness
- Dull grey tympanic membrane, lack of light reflex, and a bubble trapped behind tympanic membrane
Management of glue ear
Most cases resolve in 3 months. Otherwise, non surgical (hearing aid, autoinflation) or surgical intervention may be needed (Myringotomy and grommet insertion)
What is a grommet, and how is it used in glue ear
Negative pressure in middle ear causes fluid accumulation leading to glue ear. A grommet is a small pipe that is placed into the tympanic membrane to keep pressure the same on either side by allowing air to enter the middle ear.
It is inserted after a myringotomy (incision in tympanic membrane to drain fluid in middle ear).
How long do grommets stay in? What is some lifestyle advice to avoid infection
6-12 months, but some can be long term.
Avoid water! and regular ENT check ups
Give the two types of deafness with possible causes
Conductive - When sound waves not conducted through outer ear to eardrum. Causes: eardrum perforation, fluid in middle ear, earwax buildup.
Sensorineural - Damage to inner ear (cochlea) or to nerve pathways from ear to brain. Causes: Aging, loud sound exposure, Meniere’s disease.
How can the deafnesses be differentiated on examination
Conductive
- Rinnes: Bone conduction > Air conduction (negative result)
- Webers: Heard more in the bad ear
Sensorineural
- Rinnes: Air conduction > Bone conduction (Positive - Normal result)
- Webers: Heard more in the good ear
What are the most common causes of deafness
Ear wax, otitis media, otitis externa
What is otosclerosis, what are 3 features
Autosomal dominant replacement of normal bones in ear with spongy vascular bone.
- Conductive deafness
- Tinnitus
- “Flamingo tinge” to tympanic membrane
- Family history
What causes a post viral wheeze?
Bronchoconstriction in response to inflammation and oedema following an RSV or Rhinovirus infection
Who does post viral wheeze normally affect, and how is it managed
Preschoolers <3 years
SABA, nebulised ipratroprium bromide or 5 days oral prednisolone
Define orbital cellulitis with its main cause
Infection of fat and muscle cells posterior to orbital septum. Commonly due to URTI from sinuses and is a medical emergency with high mortality.
Caused by S aureus, HiB and streptococcus.
Risk factors for orbital cellulitis
- Childhood (7-12)
- Previous sinus infection
- Lack of Hib immunisation
- Recent eyelid infection
- Ear/face infection
Presentation of orbital cellulitis
- Swelling/redness of eye
- Severe ocular pain, worse on movement
- Reduced acuity
- Eyelid oedema and ptosis
- Exophthalmos (AKA Proptosis)
Differentiation between orbital and periorbital cellulitis
Periorbital/preseptal does not have reduced visual acuity or pain with eye movement.
Imaging used for orbital cellulitis
CT with contrast - look for inflammation of orbital tissue
Management of orbital cellulitis
Hospital admission and 7-10 days of IV antibiotics - Cefotaxime
Define preseptal/periorbital cellulitis and who is it more common in
Preseptal is when the infection is anterior to orbital septum. Includes eyelids, skin and subcutaneous tissue but does not affect the orbit or its contents.
More common in kids under 21 months
Causes of preseptal cellulitis (causative bacteria)
- S aureus
- S epidermidis
- Streptococcus
presentation and management of periorbital cellulitis
- Red swollen surrounding tissue of eye
- NO visual disturbances or affect to eye muscle.
Managed with oral co amox
What is squint and how is it investigated
Eyes pointing different directions
AKA Strabismus
- Misalignment of the visual axes. Can be concominant (imbalance in extraocular muscles - Convergent more common than divergent) or because one is paralysed (rare, due to paralysis of extraocular muscles)
Detected using corneal light reflex to check symmetry of light reflection
How does an innocent (flow) murmur sound?
- Soft
- Short
- Systolic
- Symptomless (no thrill, added sounds, cyanosis, SOB etc)
- Situational (quieter when standing, only when unwell etc)
Features of a murmur that suggest bad murmur
- Louder than 2/6
- Diastolic
- Louder standing
- Symptoms (failure to thrive, feeding difficulty, cyanosis, SOB)
Where are the pan systolic murmurs heard
Mitral regurgitation - Mitral (5th intercostal, mid clavicular)
Tricuspid regurgitation - Tricuspid (5th intercostal, left sternal edge)
Ventricular septal defect - Left lower sternal border
Where are the ejection systolic murmurs heard
Aortic stenosis - Aortic (2nd intercostal, right sternal edge)
Pulmonary stenosis - Pulmonary (2nd intercostal left sternal edge)
Hypertrophic obstructive cardiomyopathy - (4th intercostal left sternal edge - just above tricuspid)
What is patent ductus arteriosus, give risk factors
Abnormal connection between descending aorta and pulmonary artery. Usually close with first breaths. Aorta has greater pressure than pulmonary vessels, causes a left to right shunt, causing pulmonary hypertension and right heart strain and RVH. Increased pressure then causes LVH
- Prematurity
- Born at high altitude
- Maternal rubella infection
Murmur and features on examination associated with patent ductus arteriosus
Continuous crescendo-decrescendo “machinery” murmur.
- Left subclavicular thrill
- Large volume, bounding, collapsing pulse
- Wide pulse pressure
- Apex heave
Management of PDA
Indomethacin or ibuprofen - usually closes the connection in neonates. Given after 1 week, to allow time to close on its own
Monitoring until 1yo
What sound does an atrial septal defect make
Mid (AKA ejection) systolic, crescendo-decrescendo murmur loudest at upper left sternal edge. Also has a fixed split heart sound (doesn’t change with breathing)
Pathophysiology of atrial septal defect
Blood shunts from left atrium to right. Hence, blood flows to lungs (ACYANOTIC) but increased right heart flow causes right heart overload and strain. Can lead to right heart failure and pulmonary HTN.
Most common congenital heart defect in adults, 50% dead by 50
How can pulmonary HTN cause Eisenmenger syndrome
Pulmonary HTN increases so much the pulmonary pressure > systemic pressure. Reverses the L2R shunt and causes it to become R2L, so blood bypasses lungs and becomes cyanotic.
Give the 2 main types of ASD
Ostium Secondum (70%, associated with Holt-Oram syndrome (tri-phalangeal thumbs))
Ostium primum (associated with abnormal AV valves)
What are ventricular septal defects
Most common congenital heart disease. 50% close spontaneously.
- Congenital VSDs are associated with chromosomal disorders (Down’s, Edwards, Pataus etc) and congenital infections.
How are most VSDs detected
In utero (20 wk scan). Post natally, failure to thrive, features of heart failure, pan systolic murmur.
What is transposition of the great arteries
Most common CHD at birth. Cyanotic heart disease in which aorta leaves the right ventricle and pulmonary artery leaves left ventricle. (positions switched).
Causes oxygenated blood to flow round the lungs, and deoxygenated blood to flow around the body
Investigation signs of ToGA
- Loud single S2
- Prominent RV impulse
- “egg-on-side” appearance on CXR
Management of ToGA
- Maintaining the ductus arteriosus with prostaglandins to flow oxygenated blood from the aorta to pulmonary artery for oxygenation
- Surgical is definitive
4 congenital abnormalities in Tetralogy of Fallot
VORP - cause right to left cardiac shunt; blood bypasses lungs.
Ventricular Septal Defect - Blood shunts between ventricles. Oxygenated and deox. mix. Deox more into left than ox into right.
Overriding Aorta - Aorta further right than normal. RV sends deox blood into it
RV Hypertrophy - Due to added resistance of LV, ensures deox blood is shunted to left, rather than the other way.
Pulmonary stenosis - RV outflow obstruction makes it harder for deox blood to reach lungs
What is tetralogy of fallot
4 congenital abnormalities causing an increase in deoxygenated blood around the body. Causes cyanosis, and the child may develop hypercyanotic “tet” spells with increased need (crying, feeding etc), causing a “squatting position”, resp distress, syncope, tachypnoea.
Risk factors for TOF
- Family history
- Diabetic mum
- Down’s
- Alcohol in pregnancy
- Rubella
X ray and ECHO signs of TOF
X - Boot shaped heart
Echo - RV hypertrophy
Treatment of TOF and tet spells
Surgical repair
Tet spells - Beta blockers, oxygen, morphine, sodium bicarbonate, phenylephrine
What is pulmonary atresia
Pulmonary valve doesn’t form properly, meaning blood cant reach lungs. Requires alternative pathway to lungs.
What is Perthes Disease
Degenerative hip joint condition affecting 4-8yo. Due to avascular necrosis of the femoral head (femoral epiphyses), followed by revascularisation and reossification over 18-36 months. 5x more common in boys
Signs and timeframe and XRay of Perthes Disease
- Progressive hip pain over weeks without trauma
- Limp, stiff, reduced hip movement
Early- Widened joint space
Later- Decreased femoral head size/flattening, sclerosis
Management and complications of Perthes
Most resolve with conservative management, e.g. bracing to keep femoral head in place. If >6 yo, or severe deformity, surgery.
- Osteoarthritis
- Premature fusion of growth plates
What is rheumatic fever and what can repeat exposure cause. What type of hypersensitivity is it
Type 2 hypersensitivity to a recent strep pyogenes infection (strep throat - 2-4 weeks after).
Rare in west, causing joint pain and carditis. Repeat exposure can cause fibrosis of valves, causing regurgitations
What can be found histologically on the hears of people with rheumatic fever
Aschoff bodies (granulomatous bodies)
Diagnostic criteria for rheumatic fever
Revised Jones criteria (JONES-FEAR)
Evidence of recent infection (group A antigen test, positive throat culture, strep antibodies (ASO antibody titre)) + 2 major signs or 1 major 2 minor.
- Joint arthritis
- Organ inflammation (carditis+murmur)
- Nodules under skin (firm, painless)
- Erythema marginatum (red splodgy rash all over)
- Sydenham’s chorea
- Fever
- ECG (prolonged PR)
- Athralgia without arthritis
- Raised ESR/CRP
What valve diseases does rheumatic fever cause
Acute - Mitral and aortic regurgitations
Chronic - Mitral stenosis
Management of rheumatic fever
Oral penicillin V for 10 days and NSAIDs
Define GORD in infants
Commonest cause of vomiting in infancy. Normal to regurgitate feeds but GORD when it starts to cause distress. Caused by a weak sphincter which normally resolves by 1 year
Presentation of GORD in children
Signs of distress more than usual post feed vomiting
- Chronic cough
- Hoarse, excessive crying, especially while feeding
- Milky vomits and regurgitation after feeds or after being laid flat
- Poor weight gain
Gastro red flags in children and what they may mean
- Not keeping feeds down +- projectile/forceful vomiting (pyloric stenosis or intestinal obstruction)
- Bile stained vomit and/or abdominal distention (intestine obstruction)
- Haematemesis or malaena (peptic ulcer, oesophagitis, varices)
- Respiratory symptoms (aspiration/infection)
- Rash, angioedema (milk protein allergy)
- Apnoeas
Management of GORD in children
Usually doesn’t need medical therapy.
- 30 degree head up position during feeds
- Sleep on back
- Ensure not overfeeding, and burp regularly
- Thickened formula
- Gaviscon with feeds if bad
What is Sandifer’s syndrome
A rare condition causing brief episodes of abnormal movements usually associated with GORD
- Torticollis: Forceful contraction of the neck muscles causing twisting of the neck
- Dystonia: Abnormal muscle contractions causing twisting movements, arching of the back.
Usually self resolves but important differential is infantile spasms and seizure
How does pyloric stenosis present and what is it caused by? What are associated electrolyte changes
Usually presents in 2nd to 4th weeks of life, with
- Projectile vomiting (~30mins after a feed)
- Constipation and hydration
- Palpable mass in upper abdo
- Hypochloraemic, hypokalaemia alkalosis due to persistent vomiting.
Caused by hypertrophy of the circular muscles of the pylorus
How is pyloric stenosis diagnosed and managed
Diagnosed with ultrasound
Managed with Ramstedt pyloromyotomy
What is Coeliac disease
A sensitivity to the gluten protein. Repeated exposure leads to villous atrophy causing malabsorption. Children normally present before 3yo. Normally affects small bowel, particularly the jejunum
How does coeliac present
Often asymptomatic, low threshold for testing
- Failure to thrive
- Diarrhoea
- Abdominal distention
- Anaemia
- Mouth ulcers
- Dermatitis herpetiformis - itchy, blistering skin rash that typically appears on the abdomen
Genetic association with coeliac disease
HLA-DQ2 (90%)
HLA-DQ8
Investigations for Coeliac
Antibodies
- Anti-TTG and Endomysial antibodies (IgA - undetectable if IgA deficiency)
- Anti-DGPs (Deaminated Gliadin Peptides)
Endoscopy and intestinal
- Crypt hyperplasia
- Villous atrophy
- Increased intraepithelial lymphocytes
- Lamina propia infiltration
Gluten free diet trial
Treatment of Coeliac
Gluten free diet
Possible complications of untreated coeliac
- Malnutrition/vitamin deficiency
- Anaemia
- Osteoporosis
- Non hodgkins lymphoma
- Small bowel adenocarcinoma
Disease associations with coeliac
Autoimmune
- T1DM
- Thyroid disease
- Autoimmune hepatitis
- PBC/PSC
- Down’s
Causes of childhood constipation
Idiopathic or functional - no underlying cause
Secondary:
- Hypothyroidism
- Hirschsprung’s Disease
- Cystic fibrosis
- Hypercalcaemia
- Dehydration
- Low fibre diet
- Medication induced e.g. opiates
How does constipation present in children and what posture might they take?
- Less than 3 stools a week
- Hard stool difficult to pass
- Rabbit dropping (bristol stool type 1)
- Abdominal pain, waxes and wanes with passage of stool. Possibly a palpable abdominal mass
- Overflow soiling
- Poor appetite
- Straining, pain, bleeding
Retentive posturing
- Straight legged
- Tiptoed
- Back arched
Red flag symptoms suggesting underlying disorder in childhood constipation
- Reported from birth or first weeks of life
- Meconium took >48 hours
- Ribbon stool pattern
- Weakness in legs
- Faltering growth
- Distension
- Disclosure or evidence of mistreatment
At what age is faecal incontinence considered pathological?
4 years old.
Usually a sign of chronic constipation, causing stretching and desensitisation of the rectum.
Indications of idiopathic constipation
- Start after first few weeks of life, obvious precipitating factors
- Meconium in less than 48h
- Growth normal
- No neurological deficit or problems
- Changes in diet
Management of constipation in kids, including if there is impactions, or if the child is <6 months
Diagnosis of idiopathic can be made if no red flags
- Movicol Paediatric Plan first line (contains Polyethylene glycol 3350 and electrolytes)
- Add stimulant laxative if no disimpaction (Senna)
- Lifestyle advice: High fibre, hydration, exercise, reduce risk factors
If Impaction:
- May need disimpaction regime with high dose of laxatives
<6 months
- Bottle fed: Water between feeds, gentle massaging and bicycling legs
- Breast fed: Unusual to be constipated when breast fed
Non pharmacological management of constipation
Encourage toilet visits
- Scheduling visits
- Bowel diary
- Star charts
What are possible causes of diarrhoea and vomiting in children
- Infection (gastroenteritis)
- IBD/IBS
- Lactose intolerance
- Coeliac
- Cystic fibrosis
Viral causes of gastroenteritis
Rotavirus
Norovirus
Highly common and contagious
Adenovirus possible but more subacute
What does E coli cause
E coli is a normal intestinal bacteria. Spread through contact with contaminated faeces, unwashed salad and contaminated water.
E coli 0157 produces shiga toxin, causing cramps, bloody diarrohea, vomiting. Shiga toxin destroys bloody cells and leads to haemolytic uraemic syndrome.
Abx increase risk of HUS so avoid if E coli.
What does C jejuni cause and how does it look histologically
Travellers diarrhoea. Most common cause of bacterial gastroenteritis worldwide. Gram negative, curved/spiral
Spread through
- Raw/undercooked chicken
- Untreated water
- Unpasteurised milk
Incubation 2-5 days and 3-6 days of symptoms
- Abdominal cramps
- Bloody diarrhoea
- Vomiting and fever
Azithromycin or ciprofloxacin if severe
What does shigella cause, and how is it spread, and how is it treated
Spread through faeces contaminated drinking water, swimming pools, food. Incubation 1-2 days, symptoms usually resolve within a week without treatment.
Bloody diarrhoea, cramps, fever.
Shigella produces the shiga toxin that causes HUS.
Azithromycin or ciprofloxacin in severe cases
What does salmonella cause
Spread through raw eggs or chicken, or food contaminated with small animal poo. Symptoms usually resolve in a week.
Watery diarrhoea that can be associated with blood or mucus, abdo pain, vomiting. Abx only in severe cases
What are some other infective causes of diarrhoea
(fried rice, pork, parasitic infection)
Bacillus Cereus - Fried rice left at room temp. Sx start in 5 hours, resolves in 24 hours. Vomiting first and diarrhoea.
Yersinia Entercolitica - Gram negative bacillus, spread through pork. Affects children. Key symptom is lymphadenopathy. In adults this causes right sided mesenteric lymphadenopathy (mimicking apendicitis)
Giardiasis - Microscopic parasite. Live in small intestine of mammals, releasing cysts in their stools, which contaminate food and water. Treated with metronidazole
Staph aureus toxin
Produces enterotoxins on food such as eggs, dairy and meat. Cause intestine inflammation, causing diarrhoea, profuse vomiting, abdo cramps and fever. Sx settle in 12-24 hours
What does chronic diarrhoea in an infant suggest?
Cows’ milk intolerance
How does clinical shock due to dehydration present
- Decreased consciousness
- Cold extremities
- Pale skin
- Tachycardia and tachypnoea
- Weak peripheral pulses
- Prolonged cap refill
- Hypotension
Symptoms of hyponatraemic dehydration
Jittery movements
Increased muscle tone
Hyperreflexia
Convulsions
Drowsiness/coma
How to rehydrate dehydration
- 50ml/kg low osmolarity oral rehydration solution over 4 hours.
What is irritable bowel syndrome, how does it present and how long should symptoms last
Abdominal pain or
Bloating or
Change in bowel habit and stool constitution (watery, loose, hard, mucus)
Pain relieved with defecation.
> 6 months.
Diagnosed through exclusion and if
- Altered stool passage
- Abdominal bloating
- Symptoms made worse by eating
- Passage of mucus
Red flags in bloody diarrhoea
- Rectal bleeding
- Unexplained weight loss
- FH of bowel or ovarian cancer
- > 60y onset
Investigations in IBS, including cancers that mimic it (not necessarily in kids)
- FBC (check anaemia)
- Inflammatory markers
- Coeliac serology
- Faecal calprotectin
- CA125 (ovarian cancer) CA19/9 (pancreatic)
*Ovarian presents similar, just much older. E.g. 50yo woman with bloating, abdo pain. Non specific
Non medical management of IBS
Lifestyle advice
- Fluids
- Regular small meals
- Low FODMAP diet
- Limit caffeine, alcohol, fatty foods
- Reduce stress
- Change fibre depending if constipation or diarrhoea
CBT may be used
Medical management of IBS
- Loperamide for diarrhoea (slows down bowel)
- Linaclotide for constipation (laxative)
Pathophys of appendicitis
Appendix sits at end of caecum. Trapped stool or other obstruction causes infection and inflammation, which quickly causes gangrene and rupture. Rupture releases contents into abdomen, causing peritonitis and possibly sepsis.
How does appendicitis present
- Severe central abdominal pain that moves to RIF over time.
- Tenderness in McBurney’s point (2/3 of the distance from belly button to ASIS (Anterior Superior Iliac Spine))
- Rovsing’s sign (palpation of left iliac fossa causes pain in RIF)
- Guarding
Rebound tenderness and percussion tenderness if progression to peritonitis
How is appendicitis diagnosed
Usually made clinically:
- Pain moving centrally to RIF
- low grade pyrexia
- minimal vomiting
CT GOLD Standard
Ultrasound in women (rule out ovarian cancer and gynae pathology)
Diagnostic laparoscopy if negative, with appendectomy in same procedure
Key appendicitis differentials
Ectopic pregnancy - bHCG will be raised (test to rule out)
Ovarian cysts - Pelvic and IF pain, not always right, can rupture or torsion
Meckels diverticulum - Malformation of distal ileum, usually asymptomatic but can inflame, rupture, bleed, volvulus, intussusception.
Mesenteric adenitis - Inflamed lymph nodes. Often associated with tonsilitis or URTI
Appendix mass - Omentum surrounds and sticks to inflamed appendix. Treated with abx and supportively. Appendectomy once acute infection resolves
Complications of appendectomy
- Bleeding, infection, pain scars
- Bowel adhesions, causing obstruction
- Damage to nearby organs
- Veneous thromboembolism
What is bowel intussusception, what age does it normally affect
When a portion of the bowel invaginates into the lumen on the adjacent bowel, most commonly around the ileo-caecal region. This increases bowel size and narrows lumen, causing ostruction.
Usually affects infants 6-24 months. Boys 2x as often
Presentation of intussuception. What does the infant do during attacks?
- Intermittent severe crampy progressive abdo pain
- Inconsolable crying
- During attack the infant will raise knees up and turn pale
- Vomiting
- Bloodstained stools “red-currant jelly” late sign
- Sausage shaped mass in upper right quadrant
May present with viral URTI preceding illness
Investigation and management of bowel intussusception
Ultrasound is investigation of choice - target like mass
- Managed with reduction by air insufflation.
- OR Barium enema
Complications of intussusception
Obstruction
Gangrene
Perforation
Death
What is Meckel’s diverticulum and how does it present. What is a complication it’s known for? What happens to its mucosa?
Congenital diverticulum of the small intestine. Remnant of omphalomesenteric duct and contains ectopic ileal, gastric or pancreatic mucosa
Usually asymptomatic but can present with abdominal (RLQ) pain, rectal bleeding or intestinal obstruction. It is the biggest cause of painless massive GI bleeding between 1 and 2y.
How is Meckels diverticulum investigated and managed
Meckels scan
- 99m Technetium pertechnetate scan, which has an affinity for gastric mucosa
Managed
- Laparoscopic surgery or diverticulectomy.
- Small bowel resection and anastomosis.
Rule of 2s
Meckel’s diverticulum
- 2% of population
- 2 inches long
- 2 feet from ileocaecal valve
- 2x as likely in boys
- 2yo when it causes GI bleed
- 2 types of ectopic tissue (pancreatic and gastric (susceptible to ulcer))
What is hirschsprung’s disease
Congenital absence of nerve cells of the parasympathetic myenteric plexus are absent in the distal bowel and rectum.
Known as Auerbach’s and Meissner plexuses.
Causes uncontrolled peristalsis, effectively being an obstruction.
Associations of Hirschprung’s
3x more common in males
Downs syndrome
Neurofibromatosis
Waardenburg syndrome
Presentation of Hirschprung’s
Delay in passing meconium
Chronic constipation
Abdo pain/distension
Vomiting
Poor weight gain and failure to thrive
How is Hirschprung’s investigated and managed
Abdominal X ray
Rectal biopsy GOLD
Managed
- Rectal washout/bowel irrigation
- Definitive: Surgery to affected colon segment
What is a Hirschprung associated complication
Hirschsprung-Associated Enterocolitis
Inflammation and obstruction of the bowel. 2-4 weeks of birth with fever, abdo distension, bloody diarrhoea, features of sepsis.
Can lead to toxic megacolon and perforation
IV Antibiotics, fluid resus, decompression of bowel
What is biliary atresia
Blockage or absence of extrahepatic bile duct, causing jaundice due to high conjugated bilirubin, as it is not being excreted in the bowel.
What are the types of biliary atresia
Type 1: Proximal ducts present, but common duct obliterated
Type 2: Atresia of the cystic duct, and systic structures found in porta hepatis
Type 3: Atresia of left and right ducts to the level of the porta hepatis (most common)
How does biliary atresia present
- Jaundice extending beyond physiological 2 weeks
- Dark urine and pale stools
- Appetite and growth disturbance
- Hepatosplenomegaly
Investigations for biliary atresia
- Unconjugated and conjugated bilirubin: Bilirubin may or may not be raised, but conjugated will be raised for sure.
- Ultrasound of biliary tree
- Percutaneous liver biopsy/intraoperative cholangioscopy
Management and complications of biliary atresia
Surgical - Kasai portoenterostomy (attach small intestine to liver opening, allowing bile excretion)
- Progressive liver disease
- Cirrhosis
- HCC
If surgery unsuccessful, may need transplant
What can cause jaundice in the first 24 hours? How about between 2-14 days
First 24 always pathological
- Rhesus haemolytic disease
- ABO haemolytic disease
- Hereditary spherocytosis
- G6PD Deficiency
2-14 days
- Usually physiological and associated with breastfeeding
Causes of prolonged neonatal jaundice (>14 days)
- Biliary atresia
- Hypothyroid
- Galactosemia
- UTI
- Breast milk jaundice
- Prematurity
What is cows milk protein allergy/intolerance
Usually seen in the first 3 months of formula fed children,
can rarely be seen in exclusively breastfed infants.
CMPA for immediate (<2 hours, IgE mediated)
CMPI if mild/moderate and delayed (several days, non IgE mediated)
Features of CMPI/A
Occurs in first 3 months of life:
- Regurgitation and vomiting
- Diarrhoea
- Urticaria
- Colic symptoms (crying, irritability)
- Wheeze, chronic cough
- Rarely anaphylaxis
Cows milk protein intolerance has the bloating, wind, diarrhoea and vomiting, but no rash, angio-oedema, sneezing or coughing.
How is CMPA investigated
skin prick/patch testing
total IgE and specific IgE (RAST) for Cows milk protein
Avoiding cows milk should fully resolve issues
Management of CMPA
Avoid cow’s milk
If formula fed
- Extensive hydrolysed formula first line replacement
- If intolerance, can be started on milk ladder
Breast feeding
- Breast feeding mother should avoid dairy products
- May need maternal calcium supplements
- Hydrolysed formula milk when breastfeeding stops until 12 months, for at least 6 months
Possible causes of intestinal obstruction
- Meconium ileus
- Hirschprung’s disease
- Oesophageal/duodenal atresia
- Intussusception
- Intestinal malrotation
Presentation of intestinal obstruction
- Persistent vomiting
- Abdominal pain/distention
- Failure to pass stool/wind
- Bowel sounds (tinkling early and absent later)
Investigations in bowel obstruction
Abdominal X ray
- Dilated loops of bowel proximal to obstruction and collapsed distal.
- Absence of air in rectum
Management of bowel obstruction
- NBM
- NG Tube and draingage
- IV fluids
- Surgical definitive
What is Toddler’s diarrhoea
Chronic, non specific diarrhoea, between 1 and 4 years of age. Is a diagnosis of exclusion
Features of toddlers diarrhoea
Frequent, poorly formed, offensive stools
Food material easily recognisable
Child is normally well, active and has unimpaired growth. Normal appetite and normal/increased fluid intake.
No positive findings on examination or lab investigations
Management of toddlers diarrhoea
Paternal reassurance, avoidance of full strength fruit juice.
Faeces normally becomes firm when child is toilet trained or by 3 years
What is failure to thrive
Poor physical growth and development
Faltering growth if they fall in centile spaces (e.g. distance between 75th and 50th centile)
- 1 if birthweight <9th centile
- 2 if birthweight 9-91st centile
- 3 if birthweight above 91st centile
Causes of failure to thrive
Inadequate intake
- Maternal absorption
- Neglect
- Poverty
Difficulty feeding
- Poor suck (cerebral palsy)
- Cleft lip/palate
- Pyloric stenosis
Malabsorption
Increased energy requirements
- Hyperthyroid
- Cystic fibrosis, heart disease
- Chronic infection
Inability to process nutrition
How do BMI and Mid parental height suggest inadequate growth
- Height more than 2 centiles below mid parental height centile
- BMI below 2nd centile
What is Crohn’s disease
Chronic inflammation of the entire GI tract (mouth to anus). Terminal ileum and colon most commonly affected. Affects white people more
Risk factors for Crohns
Family history
Smoking
White people
OCP
Diet low in fibre
NSAID
Genetic association with Crohns
NOD2/CARD15 gene mutation
What is the inflammation pattern of crohns
Transmural inflammation with areas of healthy bowel in between known as skip lesions, giving a cobblestone appearance.
Signs and symptoms of Crohns (Think LOWER GI Tract)
- Aphthous mouth ulcers
- Abdominal tenderness and diarrhoea
- Perianal lesions- skin tages, fissures, abscesses, ulcers, etc
- Weight loss and failure to thrive
Extra intestinal manifestations of Crohns
Skin
- Perianal/mouth ulcers
- Erythema nodosum
- Pyoderma gangrenosum
MSK
- Arthritis
- Seronegative spondyloarthropathy
- Clubbing
Eyes:
- Conjunctivitis
- Iritis
Investigations in Crohn’s
Faecal calprotectin raised
Serology
- pANCA Negative (more in UC)
- ASCA positive (more in Crohns)
Endoscopy + Biopsy
- Endoscopy: Skip lesions, cobblestoning, strictures
- Biopsy: Transmural inflammation, non caseating granulomas, goblet cells present
Small bowel enema
- High sensitivity/specificity for examination of terminal ileum
- Stricturs (Kantor’s string sign)
- Proximal bowel dilation
- Rose thorn ulcers
- Fistulae
Treatment of Crohns
Stop smoking, NSAID
Induce remission
- Glucocorticoids: Budesonide (mild), prednisolone (moderate), IV hydrocortisone (very severe)
- Immunosuppressant: Azathioprine or methotrexate
- AntiTNF (infliximab)
Maintain remission:
- Azathioprine
Indications for surgery in crohns
80% of patients
- Sticturing terminal ileus disease (ileocaecal resection)
- Perianal fistulae (Diagnosed with MRI, treated surgically and draining seton left in to prevent abscess formation)
- Perianal abscess (Surgical incision and drainage)
Complications of Crohns
Small bowel cancer
Colorectal cancer
Osteoporosis
Perianal fissure/fistula/abscess
Anaemia/malnutrition
Define Ulcerative Colitis
Relapsing and remitting bowel disease that usually involves rectum and can extend up large bowel, up to ileocaecal valve (does not affect anus).
3X more common in non smokers (smoking protective)
Risk factors for UC
- Family History
- HLAB27
- NSAIDs
- Infections
- Not smoking
- Chronic stress/depression
UC Pattern of inflammation, what course does it follow, and how does damage lead to one of its characteristic features
Continuous inflammation affecting only the mucosal layers. Usually starts at rectum, working its way proximally, never past the ileocaecal valve.
Relapsing remitting course (flares with new damage, followed by healing)
Regenerating mucosa forms a scar that looks like polyps (pseudopolyps)
Sign of UC
- LLQ and tenesmus
- Bloody, mucusy diarrhoea
- Abdominal pain, urgency, weight loss and malnutrition
Extraintestinal manifestations
- Uveitis
- Colorectal cancer
- Erythema nodosum
- Pyoderma gangrenosum
- Arthritis
- PSC!
Investigations in UC
Colonoscopy
- Avoid colonoscopy if severe (perforation risk)
- Red, raw mucosa
- Continuous inflammation
- Loss of haustrations
Biopsy
- Pseudopolyps, crypt abscesses, goblet cell depletion, inflammation limited to mucosal layers
What is the most common extra-intestinal manifestation of Crohns and UC
Arthritis
PSC and uveitis more common in UC
Classification of UC
Mild <4 stools/day, small amount of blood
Moderate 4-6 stools/day, varying amounts of blood
Severe 6+ bloody stools/day
Management of UC
Induce remission
Rectal (topical) aminosalicylate - mesalazine/sulfasalazine. Add high dose oral aminosalicylate, and then oral corticosteroid, if extensive or if remission not achieved in 4 weeks.
Maintain remission
Aminosalicylate + azathioprine.
If severe/non responsive,
Colectomy is curative
Complications of UC
PSC
Bowel perforation
Toxic megacolon
Colonic adenocarcinoma
Strictures and bowel obstruction
What is fulminant UC and what is its treatment
Sudden, acute, severe UC flareup
> 10 bowel movements
Continuous bleeding
Abdominal tenderness
Toxicity
Colonic dilation
Managed in hospital
- IV corticosteroid
- IV ciclosporin or infliximab
Consider colectomy
Predisposing factors to UTI in kids
How can constipation cause it
- Infrequent voiding
- Hurried micturition
- Obstruction by full rectum (constipation)
- Poor hygiene
- Neuropathic bladder
- Vesicoureteric reflux - developmental anomaly found in 35% UTI cases
Causative organisms for paediatric UTI
- E coli
- Proteus
- Pseudomonas
Presentation of UTI in babies and older children
Babies/infants non specific
- Poor feeding, irritability, pain, fever, vomiting, urinary frequency
Older children
- Fever, suprapubic pain, vomiting, dysuria, urinary frequency, incontinence, haematuria
- Temp >38 and loin pain suggest upper UTI (pyelonephritis)
Suspect in kids with unexplained fever, vomiting, abdo pain and/or poor feeding
Investigations of UTI
Urine dip - Clean catch best method, but urine collection pads can be used. Avoid other methods. Positive - leukocytes and nitrites.
MSU Culture
Management of UTI in children
- <3 months, refer to paeds
- > 3 months with upper UTI, admit, 7-10 days of antibiotics
- > 3 months lower UTI, 3 days trimethoprim, nitrofurantoin, cefalexin or amoxicillin
How should recurrent and atypical UTI be investigated
Recurrent - abdominal USS <6 weeks
Atypical - Abdo USS during illness
Should also be done for children under 6 months
What is vesicoureteric reflux
Abnormal backflow of urine from bladder into ureter and kidney. Relatively common abnormality of the urinary tract which predisposes to UTIs.
Ureters are displaced laterally, entering at a more perpendicular fashion.
How can VUR present
- Antenatal period scan: Hydronephrosis
- Recurrent childhood UTI
- Reflux nephropathy (chronic pyelonephritis secondary to VUR)
- Renal scarring may produce more renin, causing hypertension
How is VUR diagnosed
Micturating cytourethorgram
May use a DMSA (Dimercaptosuccinic Acid) scan to assess for damage, check for scarring.
Indications for MCUG
Atypical or recurrent UTIs in kids under 6 months
Family history
Dilatation of the ureter on US
VUR
Grading of VUR
1 - Reflux into ureter, no dilation
2 - Reflux into renal pelvis, no dilation
3 - Mild/moderate dilation of the ureter, renal pelvis and calyces
4 - Dilation of the renal pelvis and calyces and moderate ureteral tortuosity
5 - Gross dilation and tortuosity
What is haemolytic uraemic syndrome? What triad is associated with it?
Thrombosis in the small vessels around the body, usually triggered by Shiga toxins, either from E coli 0157 or Shigella. Abx used to treat these also increase risk
Usually follows a gastroenteritis bout and has the classic triad:
- Microangiopathic haemolytic anaemia (destruction of RBC due to thromboses in small vessels causing shearing)
- AKI
- Thrombocytopenia (low platelets)
Presentation of HUS
Diarrhoea is first symptom, turns bloody in 3 days. One week after onset, HUS symptoms start
- Fever
- Abdo pain
- Lethargy and pallor
- Bruising
- Haematuria
- Jaundice
- Confusion
- Reduced urine output
Management of HUS
Supportive treatment
- Hypovolaemia (IV fluids)
- Hypertension
- Severe anaemia and renal failure (blood transfusion and haemodialysis)
What is a paediatric inguinal hernia, what predisposes to it, and how is it treated?
Commoner in males as testis migrate from posterior abdominal wall through inguinal canal, but can occur in females if a patent processus vaginalis.
Children presenting in first few months of life at risk of strangulation
Treated with herniotomy without implantation of mesh.
What are umbilical hernias in children
Relatively common and may be found on newborn exam.
Resolve on their own by 3 years
What are the 3 main complications of hernias
Incarceration - Cannot be reduced back into position
Obstruction - Hernia causes a blockage
Strangulation - Cuts off blood supply causing ischaemia. Surgical emergency.
What is Marasmus
Severe malnutrition caused by an overall deficiency in caloric intake (protein and energy). Usually kids under 5, in developing countries.
Results in extreme fat and muscle loss, causing stunted growth, severe weight loss and immunodeficiency.
Common in areas of famine or severe malnutrition
Presentation of Marasmus
- Severe weight loss
- Emaciation
- Prominent bones, sunken eyes, thin, dry skin
- Irritability
- Growth failure
- Weakness
Treatment of Marasmus
Rehydration
Gradual intro of calories
Micronutrient supplementation
Long term nutritional rehabilitation and infection management
Complications of Marasmus
- Immunodeficiency leading to severe infection
- Electrolyte imbalance (hypokalaemia)
- Hypoglycaemia
- Growth retardation
What is Kwashiorkor
Severe protein malnutrition that occurs despite sufficient caloric intake. Often areas where diet is primarily starchy or carbohydrate heavy with little protein.
Children often appear puffy due to generalised oedema (hypoalbuminaemia), especially in legs and face.
Presentation of Kwashiorkor
- Oedema (legs, face)
- Moon face
- Depigmented hair
- Enlarged, fatty liver
Risk factors for kwashiorkor
Sudden breastfeeding cessation
Poverty
Insufficient protein, high carbohydrate
Food insecurity/scarcity
Complications of kwashiorkor
High mortality if untreated
Heart failure (due to severe oedema)
Sepsis
Severe diarrhoea
Refeeding syndrome if not treated properly
Management of kwashiorkor
Electrolyte and fluid imbalance correction (slow, prevent osmotic demyelination syndrome)
Gradual nutritional rehabilitation, protein rich etc
What is neonatal hepatitis syndrome
Inflammation of liver of newborns usually in first months of life. Can be due to viral infection, genetic disorders, or may be idiopathic.
Inflammation leads to impaired bile flow, damaging liver
Causes of neonatal hepatitis syndrome
Viral (cytomegalovirus, hepatitis B)
Metabolic disease (galactosemia, tyrosinaemia)
Genetic disorders (alpha 1 antitrypsin deficiency)
Family history and prematurity are RF
How does neonatal hepatitis syndrome present
- Jaundice >first 2 weeks, prolonged
- Hepatomegaly
- Dark urine and pale stools
- Poor feeding, failure to thrive
Management of NH Syndrome
- Treatment of underlying cause
- Fat soluble vitamin supplementation (ADEK)
- Ursodeoxycholic acid to aid bile flow
- Liver transplant if severe
What is enuresis?
Majority of children are day and night continent by 3/4. If there is an involuntary discharge of urine by day or night, in a child aged 5 years or older, absent of congenital or acquired defects of the nervous system or urinary tract, this is enuresis.
Primary - Never achieved continence
Secondary - Child has been dry for at least 6 months
Causes of primary enuresis
- Overactive bladder - small volume urination prevents development of bladder capacity
- Fluid intake, (esp. fizzy drinks, juice, caffeine) have diuretic effect
- Failure to wake during deep sleep
- Psychological distress
How is primary enuresis investigated and managed
- 2 week fluid intake, toileting diary
- Try to establish underlying cause
Management
Lifestyle:
- Reduced fluid intake in evenings
- Pass urine before bed
- Positive reinforcement - avoid blame/shame/punishment (star chart for positive behaviours, e.g. going to the toilet before bed)
- Enuresis alarms (requires long term training (>3 months) some may find this a burden/frustrating)
What are some secondary causes of enuresis
- UTI
- Constipation (bowel pressing on bladder)
- T1DM
- New psychological problem (bullying, stress, etc)
- Maltreatment
What is diurnal enuresis
Daytime wetting, dry at night. More frequent in girls.
- Urge incontinence: overactive bladder, little warning before leak
- Stress incontinence: leakage during physical exertion, cough, laugh
Other causes;
- UTI
- Psychosocial
- Constipation
Pharmacological treatment of enuresis
Desmopressin - Vasopressin analogue (anti-diuretic). Reduces volume of urine produced by kidneys, taken at night, for nocturnal enuresis. Can be used shorter term
Oxybutinin - Anticholinergic, reduces contractility of bladder. Helpful in overactive bladder case
Imipramine - Tricyclic antidepressant. Helps somehow
What is Phimosis, what are its causes
The inability for the foreskin to be retracted over the glans. Can be physiological or pathological (caused by scarring or inflammation)
Physiological: Normal, 90% resolve by age 3.
Pathological: Much less common, but caused by infection, scarring, trauma (forceful retraction), chronic inflammation/infections. Fibrosis of the preputial ring prevents retraction. Recurrent infection/inflammation may arise from poor hygiene
Symptoms of phimosis
- Difficulty retracting foreskin
- Painful urination
- Ballooning of foreskin during urination
- Recurrent infections and balanitis
How should Phimosis be investigated and treated
urinalysis, swabs, clinical examination.
Treatment
- Expectant if under 2
- Topical steroids
- Circumcision or preputioplasty if severe or recurrent
- Good hygiene!
Complications of phimosis
Recurrent balanitis
Urinary retention
What is Hypospadias
A condition where the Urethral meatus (opening) is placed on ventral (under) side of the penis, towards scrotum. Also epispadias, where the meatus is displaced to dorsal (top) side of the penis
Significant risk factor: Family history
What is hypospadias normally characterised by
- Ventral urethral meatus
- Hooded prepuce
- Chordee (head of penis bends down - ventrally)
- Urethral meatus may open more proximally (Can be subcoronal, midshaft or penoscrotal)
What is hypospadias sometimes associated with?
- Cryptorchidism (undescended testes)
- Inguinal hernia
Management of hypospadias
May not need treatment if very distal.
Surgery normally after 4 months (usually 12 months of age). Essential child NOT circumcised before surgery, as foreskin can be used in procedure.
Surgery aims to correct meatus position and straighten penis
What is Wilms’ tumour
Wilms’ nephroblastoma, one of the most common childhood malignancies (typically presents under 5). Kidney tumour
What is Wilms’ tumour associated with
- Beckwith-Wiedemann syndrome
- WAGR syndrome (Wilms, Aniridia, Genitourinary malformations, mental Retardation)
- hemihypertrophy
- loss of function mutation on WT1 gene on C11
Features of Wilms tumours
Child under 5 presenting with abdomen mass.
- Painless haematuria
- Flank pain
- Unilateral
- HTN
- Lethargy, weight loss
- 20% metastasise to lung
How should a Wilms tumour be investigated and managed
- Unexplained enlarged abdo mass = arrange paediatric review within 48 hours
- USS to visualise kidneys, CT/MRI for staging, biopsy for definitive diagnosis
- Managed with nephrectomy of affected kidney
- Chemo and radio may be needed
- Prognosis good - 80% cure
What is Nephritic syndrome, what how does it presents and what are its most common causes in kids
Inflammation of nephrons of kidneys.
Presents with:
- Haematuria
- Oliguria (low urine)
- Hypertension (Na+ retention)
- Oedema
- Slight proteinuria BUT <3.5g of protein in 24hrs (Anymore = nephrotic syndrome)
Most common causes of nephritis in kids are post-strep glomerulonephritis and IgA nephropathy
What is Post strep glomerulonephritis
Kidney inflammation that occurs 1-3 weeks after a B haemolytic strep infection (e.g. tonsilitis caused by Strep pyogenes, or skin infection). IgG/IgM/C3 Immune complexes deposit in glomerular basement membrane causing activation of complement and inflammation
Type 3 hypersensitivity.
Strep pyogenes is beta haemolytic, group A
Presentation of post strep glomerulonephritis
Recent (1-3 weeks) tonsilitis, or skin infection (6 weeks)
Proteinura and microscopic Haematuria
Oliguria
Peripheral oedema
Hypertension
Signs of recent infection/sore throat history!
Investigations of PSG
Throat swab & culture - Strep pyogenes
Anti-streptolysin O titre - increased
Low C3
Renal biopsy results:
- Acute, diffuse, proliferative glomerulonephritis
- Endothelial proliferation with neutrophils
- Immunofluorescence: “Starry sky” appearance caused by IgG, IgM, C3 deposits
- Electron microscopy: subepithelial humps caused by lumpy immune complex deposits
Differences between PSG and IgA nephropathy
PSG
- 1-2 weeks post URTI
- Proteinuria>haematuria (which is microscopic)
- Low complement
IgA
- 1-2 days post URTI
- Young males
- Macroscopic haematuria
Management and complications of PSG
No specific
(Penicillin for underlying strep, Furosemide for oedema/HTN, use ACEi if very severe)
- Pulmonary oedema
- Hypertensive encephalopathy
- Severe AKI
Define IgA nephropathy, and what conditions is it associated with
AKA Berger’s disease. IgA deposition in mesangium of kidney (Bowman’s capsule)
Commonest cause of glomerulonephritis worldwide. Presents as macroscopic haematuria in young people (teenagers, YA).
Associated with Henoch-Schonlein Purpura (IgA vasculitis), coeliac, alcoholic cirrhosis
Type 3 hypersensitivity (antigen-antibody complex deposition)
Presentation of IgA nephropathy
Young male, recurrent macroscopic haematuria, starting 1-2 days post recent URTI.
Management of IgA nephropathy
Isolated haematuria, or minimal proteinuria <1000mg/day - no treatment, just follow up.
ACE inhibitors main treatment
Corticosteroids if failure to respond or low eGFR.
Investigations of IgA nephropathy
Urinalysis - Macroscopic haematuria
C3/C4 - NORMAL
Renal biopsy
- Immunoflourescence: IgA and C3
- Histology: Mesangial proliferation, immune complexes
Complications of IgA nephropathy
Worse than post-strep
25% develop end stage renal failure
High proteinuria (>2g/day), hypertension, smoking mark poor prognosis
Brief overview of goodpastures, what type of hypersensitivity is it
Type 2 hypersensitivity
AKA Anti-GBM (Glomerular Basement membrane) disease, autoantibodies attack type 4 collagen in glomerular and alveolar membrane causing haematuria and haemoptysis (bloody cough first)
Anti-GBM and p-ANCA positive
Treated with corticosteroids
What is nephrotic syndrome
Glomerular BM is damaged and becomes permeable to protein.
Triad
- Proteinuria (>3.5g/24hrs)
- Hypoalbuminaemia (lost in urine)
- Peripheral oedema (loss of oncotic pressure)
Other 4 features of nephrotic syndrome
Hyperlipidaemia (causing frothy urine)
Hypercoagulability (frothy urine)
Hypertension
Susceptibility to infection (Loss of Ig in urine)
Most common causes of nephrotic syndrome
Most common cause in children: Minimal change disease.
Also due to intrinsic kidney disease:
- Focal segmental glomerulosclerosis
- Membranoproliferative glomerulonephropathy
What is minimal change disease
Most common nephrotic in children, usually presents before 8. Aetiology not usually clear.
Associated with Hodgkins lymphoma, leukaemia and NSAID use.
Causes oedema, proteinuria and low albumin, in a usually otherwise well child.
How is minimal change disease investigated
Urinalysis - Small molecular weight proteins and hyaline casts
Renal biopsy
- Light microscopy - normal
- Electron microscopy - fusion of podocytes and effacement of foot processes
Minimal change disease management
Oral corticosteroids
1/3 have just 1 episode
1/3 have infrequent relapse
1/3 have frequent relapse which stop before adulthood.
Risk factors for pyelonephritis
Female
Structural urological abnormalities
Vesico-ureteric reflux
Diabetes
What is pyelonephritis and whats its causes
Inflammation of kidney from bacterial infection. Affects renal pelvis and parenchyma. Usually ascending.
Main cause is E Coli (gram negative, anaerobic rod)
Klebsiella
Enterococcus
E coli
Pseudomonas
Staph aureus
Main symptoms of pyelonephritis
Triad
- Fever
- Loin/back pain
- Pyuria (WBC/pus in urine)
Otherwise;
- Dysuria
- Frequency
- Suprapubic discomfort
- Systemic illness
- Renal angle tenderness on exam
- Haematuria
Investigations of pyelonephritis
Examination
- Tender loin
- Renal angle tenderness
Urine dip - nitrites, leukocytes, blood
Midstream urine MC+S
CT for imaging
Management of pyelonephritis
IV fluids and broad spectrum antibiotics (Co-Amox 14 days)
Drain obstructed kidney and remove catheter
If pyelonephritis not responding to treatment, what should you suspect
- Renal abscess
- Kidney stone, obstructing catheter
Complications of pyelonephritis
Renal abscess
Progression to chronic - which can progress to end stage renal failure. DMSA Scan used in recurrent pyelonephritis to assess for renal damage.
What is eczema
Atopic condition (Atopic dermatitis) causing inflammation of skin.
Occurs mostly over flexor surfaces (Inside of elbows and knees) but also:
- Face
- Neck
- Trunk
- (Face and neck in infants, flexor surfaces and creases of face and neck mostly in older kids)
Pathophys and presentation of eczema
What exacerbates eczema in seb derm cases
- Skin barrier defect provides entrance for irritants, microbes, allergens, creating an immune response. Most common pathogen is staph aureus. Malassezia also exacerbates eczema in seborrheic dermatitis cases
- Red, itchy rash affecting trunk, face, neck, flexor surfaces, and extensor surfaces in young kids
How is eczema managed
Flare treatment and maintenance
Pharmacological:
- Simple emollients to start if mild
- Topical corticosteroids (hydrocortisone mild, clobetasone butyrate if moderate etc.)
- Topical calcineurin inhibitors (tacrolimus)
- Oral antihistamine
Non pharm:
- Avoid triggers
- Wet wrap therapy for severe or chronic flares
What is eczema herpeticum
Viral skin infection in patients with eczema caused by herpes simplex virus 1 (HSV-1) or Varicella Zoster virus (VZV). Can be associated with a coldsore in the patient or close contact.
Causes widespread, painful, vesicular rash with systemic symptoms (fever, lethargy, irritability, reduced oral intake and lymphadenopathy). Leaks pus and leave punched out ulcers with red base after vescicles burst.
Management and complications of eczema herpeticum
Viral swabs used to confirm, but treat first.
Treated with oral aciclovir unless severe (then IV).
Can be life threatening if immunocompromised. Bacterial superinfection can occur
What is psoriasis
Chronic autoimmune recurrent psoriatic skin lesions. Genetic association.
Worsened by stress, environmental factors, irritation, infection, etc.
Sunlight generally improves symptoms
Subtypes of psoriasis
Plaque: Most common, well-demarcated red, scaly patches on extensor surfaces, sacrum and scalp.
Guttate: Most common in kids. Small raised papules on trunk and limbs. Can turn into plaques. “Teardrop lesions”. Often triggered by Strep throat infection, often resolves within 3-4 months
Pustular: Rare, pustules under erythematous skin, leaks non infective pus, occurs on palms and soles. Treated as medical emergency
Presentation of psoriasis
Plaque most common, Guttate most in kids, often triggered by throat infection.
Dry, flaky, scaly, faintly erythematous skin lesions, that appear in raised and rough plaques. Most commonly in extensor surfaces of elbows and knees and on scalp.
Signs suggesting it:
- Auspitz: small points of bleeding, when plaques scraped off
- Koebner: psoriatic lesions to areas of skin affected by trauma
- Residual pigmentation: After lesions resolve.
How does psoriasis affect the hands
Causes psoriatic arthritis with nail pitting, discolouration, thickening and onycholysis (seperation from nail bed). Subungal hyperkeratosis and loss of nail also.
Psoratic arthritis in 10-20%.
Comorbidities associated with psoriasis
- Psoriatic arthritis
- Metabolic syndrome
- CVD
- VTE
- Obesity, HTN, T2DM, Hyperlipidaemia
- Psychological distress (Anxiety, depression)
Exacerbating factors of psoriasis and which drugs trigger it
- Trauma
- Alcohol
- Withdrawal of steroids
- Drugs: BB, lithium, antimalarials, NSAIDs, ACEi, infliximab
- Strep infection (Guttate)
Management of Psoriasis
Regular emollients. Stepwise approach:
- 1: Potent corticosteroid + vitamin D analogue (applied seperately! - Day/Night), for up to 4 weeks.
- 2: Vit D analogue twice daily
- 3: Potent corticosteroid twice daily OR Coal tar preparation 1/2 times a day.
Secondary care management of psoriasis
Phototherapy:
- Narrowband UV B light 3 times a week
- Adverse effects: Skin ageing, squamous cell cancer
Systemic:
- Oral methotrexate if joint disease.
- Ciclosporin
How is scalp psoriasis managed
Potent topical corticosteroids once daily for 4 weeks.
Shampoo or mousse can be used, with/without a topical agent before application of the corticosteroids
Face, flexural and genital psoriasis management
- Mild/moderate potency corticosteroid 1/2 times a day for 2 weeks
Considerations using topical corticosteroids
- Topical steroids can cause skin atrophy, striae, rebound symptoms, hence using on flexural surfaces less.
- Topical used over large area can cause systemic symptoms
- 4 week break before next round of topical steroids
- No longer than 8 weeks, potent steroids for no less than 4
Give vit D analogue examples, what do they do
Calcipotriol (dovonex), calcitriol etc
Decrease cell division and differentiation, reducing epidermal proliferation. Can be used long term, and do not stain or smell like coal. Reduce scale and plaque thickness but not redness.
Avoid in pregnancy! (risk of hypercalcaemia, or calcium deposition in fetal kidneys)
What is Acne Vulgaris
Inflammation and obstruction of the pilosebaceous follicle with keratin plugs which results in comedones, inflammation and pustules. Sebaceous glands produce sebum, increased production traps keratin. Comodones can be open (blackheads) or closed
Associated with colonisation of anaerobic bacterium Propionibacterium acnes
Typically affects the face, neck and upper trunk.
Presentation of acne, including the types of scarring
Comedones
- Dilated sebaceous follicle, white if closed, black if open
Inflammatory lesions when follicle bursts, causing papules (small lumps) and pustules (small lumps with yellow pus)
Inflammation may be excessive causing nodules and cysts
Scarring can be:
- Hypertrophic (lumps)
- Ice-pick (indentations)
- Hyperpigmentation (darkening of skin)
What is unique about drug induced acne and what is acne fulminans
Drug Induced - monomorphic
Fulminans - Includes systemic upset, requires hospital admission and responds to oral steroids
Classifications of acne
Mild: Open and closed comedones, may have sparse inflammation
Moderate: Widespread non inflammatory lesions and nuerous papules and macules
Severe: Extensive inflammation, nodules, pitting, scarring.
Management of mild/moderate/severe acne
Mild - 12 week topical combination therapy
- Topical adapalene and topical benzoyl peroxide
- Topical tretinoin and topical clindamycin
- Topical benzoyl peroxide and topical clindamycin
Moderate/severe - 12 week course of Topical adapalene and benzoyl peroxide with oral lymecycline or doxycycline
Important considerations with oral abx in acne
- Tetracyclines contraindicated in women breastfeeding, pregnant or in children under 12. Erythromycin can be used
- Topical retinoid or oral benzoyl peroxide should be co prescribed with oral abx to prevent resistance
- Using antibiotics for >6 months may cause gram negative folliculitis, treat with oral trimethoprim
Which of these should not be used to treat acne
monotherapy with topical or oral antibiotic, or just both together.
Due to risk of resistance
Other possible treatment options for acne
Oral retinoids (TERATOGENIC)
COCP in women
Co-cyprindiol (most effective COCP but has higher risk of VTE)
Isotretinoin - reduces sebum production. Strongly teratogenic, must be on reliable contraception and stop for a month before pregnancy
Side effects of tretinoin
- Dry skin/lips
- Photosensitivity
- Depression, anxiety, aggression, suicidal ideation
- Rarely, stevens johnsons syndrome or toxic epidermal necrolysis
What is Stevens-Johnsons syndrome
Stevens Johnsons and Toxic Epidermal Necrolysis are the same thing, just on less than 10% and more than 10% of the body respectively.
A disproportional immune response causes epidermal necrosis
Causes of SJS/TEN
Medications
- Anti-epileptics (lamotrigine, carbamazepine,phenytoin)
- Penicillin
- NSAID
- Allopurinol
Infections
- HSV
- Mycoplasma Pneumonia
- Cytomegalovirus
- HIV
Certain HLA
Presentation with rash description of SJS
Starts non specific (fever, cough, sore throat, itchy skin) followed by purple rash that spreads and blisters.
Skin starts to break away and shed, leaving raw tissue underneath. Can affect mucuous membranes of mouth and eyes, causing inflammation, blistering and shedding.
Rash is maculopapular with target lesions, that can turn into vescicles or bullae.
- Nikolsky sign positive in erythematous areas (blisters and erosions appear with gentle rubbing)
- Mucosal involvement and systemic symptoms
Management of SJS/TEN
Medical emergency, immediate admission.
Treated with steroids, immunoglobulins and immunosuppression
What is allergic rhinitis
Type 1 hypersensitivity (IgE mediated)
Nose becomes sensitised to triggers such as dust mites, grass, tree, pollens, pets, mould. Can be:
- Seasonal
- Perennial (year round)
- Occupational
Features of allergic rhinits
Sneezing
Bilateral clear nasal discharge
Post nasal drip and itching
Itchy red swollen eyes
Management of allergic rhinits
- Allergen avoidance, hoovering, washing pillow cases.
- Oral/intranasal antihistamines, followed by oral/intranasal corticosteroids if ineffective.
Nasal decongestants can be used but only short term. Using them long term can cause tachyphylaxis (need more for same effect), and rebound hypertrophy of the nasal mucosa upon withdrawal
What are urticaria
Pale, pink, raised skin that are itchy. Allergic response. Mast cell and histamine mediated.
Can be acute (allergic, virus, bites, contact) or chronic
- Chronic idiopathic - no known cause
- Chronic inducible (sunlight, temperature, exercise, stress)
- Autoimmune (associated with autoimmune disease - antibodies target mast cells)
Managed with antihistamines, e.g. Fexofenadine. Sedating antihistamine (chlorphenamine) can be used at night
Short course of oral can be used
How can allergies be tested
- Skin prick testing
- Patch testing
- RAST testing (measures IgE)
(check for sensitivity, not allergy)
- Food challenge testing (requires specialised unit)
Drug causes of hives
Penicillin
Aspirin
NSAID
Opiates
What is anaphylaxis
Severe allergic response characterised by sudden and rapidly progression Airway Breathing and Circulation symptoms
Airway - Swelling of throat and tongue, causing hoarse voice and stridor
Breathing - Wheeze and dyspnoea
Circulation - Hypotension, tachycardia
Also causes
- Urticaria/angioedema
- Itching
- Collapse
Management of anaphylaxis
IMMEDIATE IM adrenaline 500mcg on the anterolateral aspect of the thigh (>12yo). Can be repeated every 5 mins if necessary.
A - Secure airway
B - Provide oxygen/salbutamol
C - IV fluid bolus
D - Lie flat to improve cerebral perfusion
E - Look for flushing, urticaria, angioedema
How does adrenaline dose change with age
<6 months 100-150mcg
6 months-6 years - 150mcg
6-12 years - 300mcg
12+ - 500mcg
How can anaphylaxis be measured post event
All children should be monitored, in case of biphasic reaction.
Serum mast cell tryptase should be measured to confirm diagnosis within 6 hours.
Provide adrenaline auto injector, with BLS training.
Causes of nappy rash
Irritant dermatitis - Most common cause, due to urinary ammonia and faceces, does not affect creases
Candida dermatitis - Erythematous rash which involves flexures and has satellite lesions
Seb Dermatitis - Erythematous rash with flakes, that may also affect scalp
Psoriasis - Red scaly rash that may be present elsewhere
Treatment of nappy rash
Disposable nappies
Expose to air
Apply barrier cream or steroid cream
Candidal nappy rash treated with topical imidazole
What is kawasaki disease and whats the main complication to be scared of
It is a systemic, medium sized vessel vasculitis. Typically under 5.
Big complication is a coronary artery aneurysm
Clinical features of kawasaki disease
Persistent high fever (>39C) for more than 5 days. Key findings:
- Widespread erythematous maculopapular rash and desquamation (skin peeling) on palms and soles
- Strawberry tongue
- Red, cracked lips
- Cervical lymphadenopathy
- Bilateral conjunctivitis
Phases of kawasaki disease
Acute: Child most unwell with fever, rash and lymphadenopathy 1-2 weeks
Subacute: acute settle, desquamation and athralgia occurr and risk of coronary artery aneurysms. Lasts 2-4 weeks.
Convalescent stage: Symptoms settle and bloods return to normal. 2-4 weeks
Management of Kawasaki disease
High dose aspirin to reduce thrombosis risk
IV immunoglobulins to reduce risk of coronary artery aneurysm
Why is aspirin normally avoided in children
Reyes syndrome risk
What is measles
RNA paramyxovirus, spread by aerosol transmission. Has a 10-14 day incubation period and patient is infective from prodrome until 4 days after rash start.
MMR Vaccine vaccinates against it
How does measles present
Prodrome
- Irritable, conjunctivitis, fever
Followed by main features
- Koplik spots (white spots (grains of salt) on the buccal mucosa) appear before the rash
- Rash (Starts behind ears (3-5 days post fever) and spreads to whole body. Discrete maculopapular rash that becomes blotchy and confluent. Desquamation typically spares palms and soles)
Management of measles
Measles is self resolving 7-10 days post symptoms. Isolate until 4 days post symptom resolution
Notifiable disease to UKHSA
Vaccinate contacts within 72 hours
Complications of measles
Otitis media - most common
Pneumonia - most common cause of death
Encephalitis
Diarrhoea
Meningitis
Hearing loss
Vision loss
Death
What is Scarlet Fever
Erythrogenic toxins produced by Group A haemolytic streptococci (Strep pyogenes), more common in kids 2-6 years, peak at 4.
Presents as widespread rough “sandpaper” rash following a Group A Strep infection (e.g. tonsilitis).
Spread via respiratory droplets
Presentation of Scarlet Fever
2-4 day incubation period and presents with:
- Fever 24-48 hours
- Strawberry tongue
- Rash (fine punctuate erythema “pinhead” which appears first on torso and spreads, sparing palms and soles. Red-pink, blotchy, macular rash with rough “sandpaper” skin. Desquamination occurs)
- Cervical lymphadenopathy
- Flushed face, sore throat, malaise.
How is scarlet fever diagnosed and managed?
- Throat swab to confirm
- Oral Penicillin V for 10 days
- Azithromycin alternative
- Notifiable disease
- Can return 24 hours after commencing antibiotics
Complications of scarlet fever
Usually mild but:
- Otitis Media (most common)
- Rheumatic fever
- Post streptococcus glomerulonephritis
are possible
What is Rubella
Rubella virus (part of togavirus family), highly contagious and spread via respiratory droplets. 2 week incubation. Infective from 7 days before symptoms to 4 days after rash
Presents with erythematous macular rash and is notifiable.
Children stay off school 5 days, avoid pregnant women
Presentation of rubella
Prodrome: low grade fever
Rash: Erythematous maculopapular rash initially on face before spreading to rest of body.
Lymphadenopathy: Suboccipital and postauricular
How is rubella managed
Supportive.
Notify UKHSA
Children stay off school and avoid pregnant women
What can rubella in pregnancy cause
Congenital rubella syndrome
Damage most likely in 8-10 weeks
- Senisorineural deafness
- Congenital cataracts
- Congenital heart defects
- Cerebral palsy
- Hepatosplenomegaly
- Microphthalmia
(Deafness, blindness and congenital heart disease is a triad for this condition)
How is rubella in pregnancy diagnosed and managed
- IgM antibodies raised in mother.
- Hard to distinguish from parovirus B19 clinically, so worth checking both.
Management
- Inform local health protection unit
- Advise non immunised to avoid rubella contacts,
What is Parvovirus B19
DNA virus which causes a range of clinical presentations.
Can go anywhere from mild fever to full rash.
Rash presents bright red on both cheeks (AKA Slapped cheek syndrome) before reticular rash appears over trunk and limbs. (rarely palms/soles)
As rash appears, child is no longer infectious.
A child with previously diagnosed parvorvirus B19 notices a recurrence of the rash. What can cause this and how is it treated?
Warmth (warm bath, heat, fever) can trigger rash again, but treatment and school exclusion are unnecessary
What patients are at particular risk from Parvovirus B19
- Immunocompromised
- Pregnant
- Haematological conditions (sickle cell, thalassaemia, hereditary spherocytosis, haemoly
tic anaemia)
What does parvovirus B19 (slapped cheek syndrome) cause in pregnancy and how is it investigated
- Miscarriage/fetal death
- Severe fetal anaemia
- Hydrops fetalis
- Maternal pre-eclampsia like syndrome (hydrops fetalis, placental oedema, oedema in mother)
IgM to parvovirus (acute infection, last 4 weeks)
IgG parvovirus long term immunity
Rubella antibodies (Important differential!)
What is roseola infantum and what are its main complications
Caused by HHV-6 and HHV-7 (human herpes virus)
High fever for 3-5 days, then disappears suddenly. Rash then appears for 1-2 days. Mild erythematous macular rash across legs, arms, trunk and face, not itchy.
Main complication is febrile convultions due to high temperature
If immunocompromised, GBS, myocarditis, thrombocytopaenia.
What is Zika caused by and what does it cause
Zika virus, spread by Aedes mosquito. Can be spread sexually.
Congenital Zika
- Microcephaly
- Fetal growth restriction
- Vetriculomegaly, cerebellar atrophy.
What does varicella zoster virus and when are vaccines indicated
- Primary: Chicken pox, indicated in healthcare workers and contacts of immunocompromised patients.
- Reactivation in dorsal root ganglion (usually at later age): shingles, indicated in those 70-79
Both are live attenuated vaccines
Chicken pox presentation and management
- Initial fever
- Itchy rash that starts on face/trunk, then spreads. Starts as small red macules, that rapidly progress to vescicles (blisters) that rupture and crust over, forming scabs. Happens over 5 days. Most infectious 1-2 days before rash, and infective until all scabs have crusted over.
- Mild systemic symptoms (malaise, fatigue)
Management of Chicken pox
- Trim nails, keep cool
- Calamine lotion
- Varicella Zoster Immunoglobulin (VZIG) if immunocompromised or newborn with peripartum exposure.
Complications of chicken pox
Bacterial infection of the lesions - can be small cellulitis or necrotising fasciitis caused by invasive group A streptococcal infection. NSAIDs increase risk of NF!!
Rare
- Pneumonia
- Encephalitis
- Shingles/Ramsay Hunt syndrome (reactivation of virus)
What does healed varicella pneumonia leave behind
Calcific miliary opacities. Dense, with no uniform size.
At what age of gestation is chicken pox most concerning, how is it treated
<20 weeks. Causes congenital varicella syndrome (developmental problems)
Treated with Varciella Zoster immunoglobulins. If infection around time of delivery, use IVIG and aciclovir
Who can benefit most from Chicken pox post exposure prophylaxis
- Significant exposure to varicella zoster or herpes zoster
- Clinical condition increasing risk of severity (immunosuppression, neonates, pregnant)
- No antibodies to varicella virus
VZIG
What is the risk of chicken pox in pregnancy
Fetal varicella syndrome (+5x risk of pneumonitis to mother)
- Risk is 1% <20 weeks g, unlikely >28 weeks
- Causes skin scarring, microphthalmia, limb hypoplasia, microcephaly, learning disabilities
Other risks include
- Shingles in infancy (dorsal root ganglion reactivation)
- Severe neonatal varicella
When should PEP be given in chicken pox in pregnancy
Oral aciclovir between day 7-14 post exposure.
What is diphtheria
Infection that causes fever, sore throat with grey pseudomembrane and lymphadenopathy. Vaccinated against in 6-in-1 vaccine (toxin vaccine).
Caused by Cornyebacterium diphtheriae which releases an exotoxin encoded by B-prophage, which inhibits protein synthesis by catalysing ADP-ribosylation of elongation factor 2 (EF2)
Presentation of diphtheria
Recent visitor to Eastern Europe/Russia/Asia
- Sore throat with “diphtheric membrane” - grey, pseudomembrane on posterior pharyngeal wall.
- Bulky cervical lymphadenopathy
- Neuritis
- Can cause heart block
Diphtheric membrane on tonsils caused by necrotic mucosal cells. Systemic distribution can cause necrosis of myocardial, neural and renal tissue, causing heart block, neuritis, peripheral neuropathy (motor loss) etc
How is diphtheria investigated and managed? What agar is used for culture?
- Throat swab and culture - using tellurite agar or Loeffler’s media
- Managed with IM penicillin or diphtheria antitoxin
What is Scalded Skin Syndrome
A skin infection caused by Staph aureus in which exfoliative toxins (ETA and ETB) cause widespread erythema and blistering, which burst, causing desquamation that resemble burns.
The lesions do not affect mucosal surfaces, distinguishing it from TEN.
Presentation of Scalded skin syndrome
Usually under 5
- May be preceded by fever, irritability, malaise
- Widespread erythema followed by large, flaccid blisters that easily rupture. These then peel (desquamation), resembling a scald.
- Mucosal surfaces are UNAFFECTED
Management and complications of SSS
Managed with wound care (cleaning) supportive (hydration/fluid balance), and antibiotics (fluclox or vancomycin if MRSA)
- Secondary infection (cellulitis/pneumonia) or dehydration and electrolyte imbalance are main concerns.
What is whooping cough and what is significant about the vaccine
Gram negative bacterial infection Bortadella pertussis, typically presenting in children. Sometimes called 100 day cough
Notifiable disease.
Child has severe coughing fits in which child struggles to take air between coughs.
Vaccinated against but vaccine nor immunisation provide lifelong protection
Phases of whooping cough presentation
Catarrhal phase - 2 weeks (extremely contagious)
- low grade symptoms, fever, rhinorrhoea, cough.
Paroxysmal phase 1-6 weeks
- Uninterrupted “whooping” coughing that can result in vomiting, collapsed lung, broken ribs and apnoea
- O2 decrease can cause death
- Inspiratory whoop
- Usually worse at night or after feeding
Convalescent phase (healing)
- Cough subsides over weeks/months
Diagnostic criteria and investigations of whooping cough
Unexplained acute cough >14 days + at least:
- Paroxysmal cough (Paroxysmal = in attacks/episodes)
- Inspiratory whoop
- Post-tussive vomiting
- Undiagnosed apnoeic attacks in children
Investigated for using
- Nasal swab culture for Bodetella pertussis
- PCR and serology
Management of whooping cough
Notifiable, notify UKHSA
Oral macrolide (azithromycin, clarithromycin etc) if cough started within 21 days.
Oral prophylaxis for household contacts
School exclusion until 48 hours after starting antibiotics.
Possible complications of whooping cough
Symptoms usually resolve in 8 weeks but severe cough can cause damage:
Bronchiectasis!
Pneumonia
Rib fractures
Encephalopathy/Seziures
What is Polio
Poliomyelitis, caused by poliovirus. Spread through faeco-oral and respiratory routes.
Mainly affects kids’ nervous systems, can lead to paralysis.
Attacks the anterior horn cells of the spinal cord, causing flaccid paralysis.
Usually vaccinated in 6in1 (inactivated vaccine), so rare here but endemic in afghanistan, pakistan and nigeria.
Main concern with polio
Respiratory failure
Long term post polio syndrome, causing muscle weakness and fatigue for decades
Permanent paralysis
What is meningitis
Inflammation of the leptomeninges due to an infection of the meninges and CSF.
Usually due to N Meningitidis (gram negative diplococci) or Strep pnuemoniae
Notifiable disease
What are the most common bacterial causes of meningitis <3 months, <6 years and >6 years
Neonatal (<3 months)
- Group B strep (acquired from mother at birth - more common in low birth weight or prolonged ROM)
- E coli
- Listeria monocytogenes (avoid cheese)
<6 years
- N mengitidis
- S pneumoniae
- H influenza
> 6 years
- N meningitidis
- S pneumoniae
Why is group B strep more common in neonatal meningitis
Group B strep lives harmlessly on maternal vagina
How do bacterial causes of meningitis present on film
- N meningitidis - Gram negative diplococci (Only one that causes non blanching rash!)
- S pneumoniae/Group B strep - Gram positive cocci in chains
- Listeria monocytogenes - Gram positive bacillus
Viral causes of meningitis
- Coxsackie virus
- HSV
- Varicella Zoster virus
- Mumps
Usual signs and symptoms of meningitis (including special tests)
Signs
- Neck stiffness, headache, photophobia (avoids light)
- Phonophobia (avoid sound)
- Papilloedema (optic disk swelling)
- Non blanching rash (N meningitidis only)
Pyrexia, reduced GCS
Kernig sign
- Patient lie on back, flex leg and knee to 90. Straightening leg causes neck pain
Brudzinski sign
- Lie patient on back and passively flex neck to chest, this will cause involuntary hip and knee flexion
How does Meningitis present in children/neonates
Can be non specific
- Hypotonia
- Poor feeding
- Lethargy
- Hypothermia
- BULGING FONTANELLE
Lumbar puncture if under 1 year with fever/unwellness
What does a non blanching rash suggest
Meningococcal septicaemia
Investigations in meningitis
Blood culture 1st line
Lumbar puncture GOLD
Bacterial
- Cloudy/yellow
- High protein
- Low glucose
- High WCC (neutrophil)
Viral
- Clear appearance
- Protein small raise/normal
- Normal glucose
- WCC high (Lymphocytes)
Contraindications to lumbar puncture
Meningococcal septicaemia (non blanching rash presence)
Any sign of raised ICP
- Focal neurological signs
- Papilloedema
- Significant bulging of the fontanelle
- Disseminated intravascular coagulation
- Cerebral herniation
Management of meningitis in neonates
<3 months -
IV Cefotaxime and amoxicillin
> 3 months - IV Ceftriaxone
+ Dexamethasone ONLY if > 3 months and bacterial
Prophylaxis of contacts:
- Ciprofloxacin
(Contacts within 7 days prior to onset at greatest risk)
Management of meningitis in non neonates
Primary care
- Immediate IM Benzylpenicillin if meningococcal suspected
Hospital
- Cefotaxime or Ceftriaxone + Dexamethasone
- Add amoxicllin if <3 or >50 to cover Listeria
- Contact tracing and Ciprofloxacin for contacts
Complications of meningitis
What’s it called when a meningococcal patient gets adrenal insufficiency
- Hearing loss! (sensorineural)
- Cerebral palsy
- Seizures, memory loss, cognitive impairment
- Infection can cause sepsis and intracerebral abscess
- Pressure can cause brain herniation and hydrocephalus
Meningococcal can lead to Waterhouse-Friedrichsen (adrenal insufficiency secondary to adrenal haemorrhage)
What is encephalitis and what is its main cause in children
Inflammation of the brain, commonly due to viral cause.
Common cause in children is HSV-1 from cold sores but can also be due to HSV-2 from genital herpes, contracted at birth (common in neonates)
Herpes simplex encephalitis characteristically affects temporal lobes
What are some other causes of encephalitis
VZV (Chickenpox)
Cytomegalovirus (immunodeficiency)
EBV (infectious mononucleosis, enterovirus, adenovirus, influenza)
How does encephalitis present
- Altered concsciousness/cognition
- Unusual behaviour
- Acute onset neurological symptoms (e.g. aphasia)
- Acute focal seizures
- Fever
Investigations in encephalitis
- LP: CSF clear with lymphocytosis and elevated protein
- PCR for HSV
- CT: Medial temporal and inferior lateral changes.
- MRI preferred imaging
EEG shows localised discharges at 2Hz
Management of encephalitis
IV Aciclovir
What is impetigo
Superficial skin infection usually caused by Staph aureus or Strep pyogenes. Contagious, and children should be kept off school during disease course.
Can be primary or secondary to eczema, scabies, insect bites
Gold crust characteristic of Staph infection
Pathophys of impetigo
Can be bullous or non bullous - bullous is always staph aureus.
Non bullous
- Typically around nose/mouth, where exudate from golden crust. Does not cause systemic symptoms
Bullous
- Staph aureus produce epidermolytic toxins that break down proteins that hold skin together, forming 1-2cm vescicles that burst forming a golden crust. These eventually heal without scarring.
Bullous more common in neonates and children. When severe and widespread, it is called staphylococcal scalded skin syndrome.
Presentation of impetigo
- “Golden Crust” from skin lesions typically found around mouth
- Very contagious - stay off school!
- Spread through itching of scabs
Management of impetigo
Non-bullous/not systemically unwell - hydrogen peroxide 1% cream
Bullous
- Topical fusidic acid
- Topical mupriocin if fusidic resistant
Extensive disease
- Oral flucloxacillin
Keep off school until lesions are crusted/healed or 48 hours post starting Abx
Complications of impetigo
Usually responds well to treatment but if not;
- Cellulitis
- Sepsis
- Scarring
- Post strep glomerulonephritis
- Staph scalded skin syndrome
- Scarlet fever
What is toxic shock syndrome, how does it present and how is it managed
Caused by a severe systemic reaction to staphylococcal exotoxin TSST-1 superantigen toxin.
Previously caused by infected tampons
Presents with fever (>39C), hypotension, diffuse erythematous rash with desquamation, and involvement of 3 or more organ systems.
Managed with IV fluids and antibiotics
How is HIV transmitted (3)
- Unprotected sexual activity
- Mother to child (breastfeeding, pregnancy, birth - can be any stage)
- Mucous membrane, blood, open wound exposure to infected blood or body fluid. (Sharing needles, needle stick, blood splash in eye).
How can vertical transmission of HIV be prevented
Delivery
- Vaginal if viral load <50/ml
- C Section if >50/ml
- Give IV Zidovudine during C section if unknown or >10,000
Prophylaxis
- Low risk (<50/ml in mother) zidovudine for 4 weeks
- High risk (>50/ml) zidovudine, lamivudine and nevirapine 4 weeks
Do not breastfeed, regardless of load
How can HIV be tested for, and when should it be tested
HIV antibody screen - Checks for antibodies against HIV. Can be false positive, due to antibodies crossing placenta. Can also take 3 months post exposure to develop antibodies.
HIV viral load - Tests directly for viruses in blood.
Test when
- Babies to HIV positive parents
- When immunodeficiency suspected (e.g. recurrent illness)
- Risk factors such as IV drug use, needle stick or sexually active
What can be given for prophylaxis against Pneumocystis jirovecii Pneumonia (PCP)
Co-trimoxazole
Goals of treatment in HIV
Antiretroviral therapy
- Normal CD4 count
- Undetectable viral load
What is the BCG vaccine
Vaccine that offers limited protection against TB. Given to high risk infants. Greenbook advises:
- All infants in areas of UK with > incidence of TB than 40/100,000
- All infants with parent or grandparent from country with TB
- Previously unvacinated, tuberculin negative contacts of TB patients.
Contains live attenuated Mycobacterium bovis, also prevents leprosy.
Must have tuberculin test first.
What are febrile convulsions
A type of seizure that occur in children with a high fever. Typically occur between 6 months and 5 years, not associated with pathology.
Usually found in early viral illness, last less than 5 mins and mostly tonic-clonic
What are the types of febrile convulsion
Simple - <15 mins, generalised, no reccurence within 24 hours (may be solitary), complete recovery within an hour.
Complex - 15-30 mins, focal seizure, repeat within 24 hours
Febrile status epilepticus - >30 mins
How is febrile convulsions diagnosed
Diagnosis of exclusion.
- Epilepsy
- Meningitis
- Space occupying lesions
- Syncopal episode
- Electrolyte abnormalities
Typical presentation
- 18 month child with 2-5 min tonic clonic seizure during a high fever. Due to underlying viral illness or bacterial such as tonsilitis. Source of infection should be investigated.
Management of febrile convulsions
First seizure or complex - admit to paediatrics.
Ongoing - can be managed at home, but call ambulance if >5 mins.
- If recurrent, benzodiazepine (rectal diazepam or buccal midazolam) can be used.
What is the prognosis of someone with febrile convulsions, with risk factors for further seizures
1/3 will have further febrile convulsions.
Increased risk of epilepsy (2.5% for no risk, much higher if all or complex convulsions)
Risk factors for further seizures:
- Age <18 months
- Fever <39
- Shorter duration of fever before seizure
- Family history
If a child in the first few months of life has brief spasms, what is this condition?
Infantile spasms (West Syndrome)
- Brief spasms in the first few months of life
- Key features: Flexion of head, trunk, limb and extension of arms (Salaams attacks), which last 1-2 seconds and can repeat up to 50 times a day.
- Usually secondary to a serious neurological condition (tuberous sclerosis, encephalitis, birth asphyxia)
- Vigabatrin and prednisolone are possible treatments.
- Poor prognosis - 1/3 dead by 25
What is Lennox-Gastaut syndrome
Possible extension of infantile spasms, affecting 1-5 yo.
- Presents with atypical absences, falls and jerks. Atonic seizures
- 90% of patients will have moderate-severe mental handicaps
- Ketogenic diet may help
What are some associated symptoms with epileptic seizures
- LoC
- Aura
- Post ictal state (confusion, irritability, fatigue, difficulty speaking)
- Incontinence
- Tongue biting
- Sweating, salivation, abnormal, groaning
Management of tonic-clonic seizures
First line: Sodium valproate (only in males as teratogenic - neurodevelopmental delay)
In females: Lamotrigine
What are focal seizures, how do they present and how are they treated
Seizures affecting 1 area of the brain.
Usually start in temporal lobe, affecting hearing, speech, memory and emotions.
Simple: Remains conscious, no post ictal symptoms and memory of event
Complex: LOC. Impaired memory, post ictal.
Treated with:
First line: carbamazepine or lamotrigine
Second line: sodium valproate or levetiracetam
(reverse of tonic-clonic!)
Give the 4 lobes, and explain how a focal seizure affecting them presents
Temporal: Aura - Rising epigastric sensation. Followed by dejavu, hallucinations, automatisms (doing weird things on autopilot).
Frontal (motor) - Head/leg movments, posturing, jacksonian march (start in certain muscle group and move). Post ictal weakness
Parietal (sensory) - paraesthesia
Occipital (visual) - Floaters/flashes etc
What are absence seizures and how are they managed
Typically in children. Goes blank, stares into space and abruptly back to normal. Last 10-20 seconds.
Managed with Sodium valproate or ethosuximide
What are atonic and myoclonic seizures, and what conditions do they suggest?
Atonic - drop attacks (lapses in muscle tone) - <3 mins - suggest lennox-gastaut syndrome
Myoclonic - Brief muscle contractions (sudden jump). Patient usually awake. Happen as part of juvenile myoclonic epilepsy
What are grand mal and petit mal seizures
Grand - Tonic clonic
Petit - Typical absence
How should seizures be investigated, indications for imaging, and random investigation thats high for some reason
Investigate in kids after second simple seizure
EEG and brain MRI
MRI considered when:
- First seizure under 2 years
- Focal seizures
- No response to medication
Also do
- ECG (exclude cardiac cause)
- Electrolytes
- Blood cultures, urine cultures and lumbar puncture to rule out sepsis, encephalitis, meningitis
(prolactin is also raised immediately after a seizure for some reason)
MoA and side effects of sodium valproate
First line in all except focal
Works by increasing GABA activity, relaxing brain
- Teratogenic
- Liver damage
- Hair loss
- Tremors
MoA and side effects of lamotrigine
Na+ channel blocker and suppresses glutamate release, reducing excitability of neurones
- Blurred vision
- Leukopenia
- Stevens-Johnson syndrome (life threatening rash) or DRESS syndrome
First line in women/pregnant
Carbamazepine MoA and side effects
Sodium channel blocker, reduces excitability of neurones
- Agranulocytosis
- Aplastic anaemia
- Dizziness
- Rash
Side effects of ethosuximide
Night terrors
Rash
What is status epilepticus and how is it managed
A seizure >5 mins, or >2 seizures without regaining consciousness. Medical emergency
- ABCDE approach
- IV lorazepam in hospital or buccal midazolam or PR diazepam in community
If ongoing
- IV phenytoin or phenobarbital
What is benign rolandic epilepsy
Childhood epilepsy (4-12)
At night/when waking up.
Typically partial (e.g. paraesthesia affecting face)
Centrotemporal spikes on EEG.
Excellent prognosis
What shows on EEG in petit mal seizures
3Hz generalised, symmetrical spike on EEG
Define Tuberculosis, what is it caused by?
Granulomatous resp and non resp infection. Type 4 hypersensitivity. Notifiable
Mycobacterium tuberculosis, acid fast bacilli. Slow dividing and have high oxygen requirements - difficult to culture.
As it is acid fast, a Ziehl-Neelsen stain must be used, turning them bright red against a blue background.
1.7b cases worldwide - mostly latent in South Asia/Sub Saharan Africa
Stages of TB infection
Primary - TB phagocytosed but resists killing (waxy mycolic capsule prevents binding - acid fast) Focal, caseating granuloma forms (Ghon focus). If it involves hilar lymph nodes, it becomes a Ghon complex
Latent - Bacteria dormant, patient asymptomatic. Sputum test will be negative but Mantoux will still be positive
Secondary - Immunocompromised patients, TB reactives and patient is symptomatic and infectious.
Miliary - Lymphatogenous spread to other organs, causing systemic symptoms
When TB travels to vertebral bodies, what is this called?
Pott’s Disease
Extrapulmonary manifestations of TB
TB meningitis
Vertebral bodies (Pott’s disease)
Cervical lymph nodes (scrofuloderma)
TB pericarditis
Renal/GU tract
How might TB present
- Cough with haemoptysis
- Fever, night sweats, lethargy, weight loss
- Lymphadenopathy
- Erythema nodosum
- Dyspnoea and clubbing, if long standing
How is active TB investigated
Chest X ray (signs on other card)
Sputum culture - 3 deep cough sputum culures, which stain red with Ziehl-Neelsen stain.
Nucleic acid Amplification Test - Done on urine or sputum if under 15 or has HIV.
Chest X ray signs in TB
Primary
- Patchy consolidations
- Pleural effusion
- Hilar lymphadenopathy
Latent
- Ghon complex
Secondary
- Nodular consolidation with cavitation (gas filled spaces) in upper lung
Miliary
- “Millet Seeds” uniformly distributed throughout lung
Investigations in Latent TB
Mantoux screening - Intradermal injection of purified protein derivative which causes a type 4 hypersensitivity reaction. After 72 hrs, >15 mm induration is strongly positive, and suggests infection. 6-15 may be due to BCG or due to previous TB.
Interferon gamma release assay - Blood mixed with TB. If previous contact, will release interferon gamma.
What can cause false negative in TB investigation
Recent infection
HIV
Sarcoidosis
Lymphoma
What vaccine helps prevent TB
BCG
Intradermal injection of live attenuated Mycobacterium bovis. Protects mostly against severe and complicated TB, but less against pulmonary TB.
Treatment of Active TB
RIPE - two months course
Rifampicin
Isoniazid (+ Pyridoxine)
Pyrazinamide
Ethambutol
Then R and I for 4 further months
What is prescribed with isonazid and why?
Pyridoxine (vitamin B6)
Helps prevent peripheral neuropathy
Treatment of latent TB
RI for 3 months
Rifampicin
Isoniazid (+Pyridoxine)
OR Isoniazid for 6 months
Side effects of TB treatment drugs
R- rifampicin –> red urine/sweat
I- isoniazid –> peripheral neuropathy
P- pyrazinamide –> gout, hepatitis
E- ethambutol –> optic neuritis
All can also cause hepatitis
MoA of TB drugs
Rifampicin - inhibits bacterial RNA polymerase
Isoniazid - Inhibits mycolic acid synthesis
Pyrazinamide - Inhibits Fatty Acid Synthetase, disrupting bacterial membrane function
Ethambutol - Inhibits cell wall synthesis
What are the effects of rifampicin and isoniazid on CYP450
R - Liver enzyme inducer
I - Liver enzyme inhibitor
What is autistic spectrum disorder
Deficit in social interaction, communication and flexible behaviour. Classified under DSM-5/
Uusally present in childhood but may manifest later.
Clinical features pf autistic spectrum disroder
Usually present before 2-3 yo but may manifest later.
Impaired social interaction
- Lack of eye contact
- Delay smiling
- Avoids physical contact
- Cannot read cues
- Difficulty making friends and not wanting to socialise
Communication
- Delay, absence or regression in language development
- Lack of appropriate non verbal communication (eyes, smiling etc)
- Difficulty with imaginative or sarcastic behaviour
- Repetitive use of phrases or words
Behaviour
- Interest in patterns, objects, numbers > people
- Sterotypical repetitive movements (hand flapping etc)
- Intense, deep interests that are persistent and rigid
- Anxiety and distress outside normal routine
- Extremely restricted food preferences
Also associated with higher head circumference to brain volume ratio
How is autism managed
Goals: Increase functional independance and QOL:
- Learning, development, social skills
- Decrease disability/morbidity
- Aid families
Non pharm:
- Educational and behavioural interventions
- Family support and counselling
Pharm:
- SSRIs: Reduce symptoms like stereotyped behaviour, anxiety
- Antipsychotics if aggression or self injury
- Methylphenidate if associated ADHD
What is anorexia nervosa and what is its diagnostic criteria
Most common cause of child admission to psych.
Patient believes themselves to be fat, despite low or normal weight.
DSM-5 criteria
- Restriction of energy intake leading to significantly low body weight
- Intense fear of gaining weight, despite underweight
- Disturbance in the way their body is perceived
Features of anorexia nervosa
- Weight loss
- Amenorrhoea (HPA axis disruption (P))
- Lanugo (fine, soft) hair
- Hypotension
- Hypothermia
- Anxiety and depression
Complications of anorexia nervosa
Hypogonadism and amenorrhoea
- Lack of gonadotrophin (LH/FSH) from pituitary, hypogonadism in ovaries.
Cardiac
- Arrhythmia, cardiac atrophy, sudden cardiac death.
Low BMD
Highest mortality of ANY psych condition
Management of anorexia
Individualised eating disorder focused CBT
Maudsley anorexia nervosa treatment for adults (MANTRA)
Anorexia focused family therapy in children and young people (CBT 2nd line)
How might bloods change in anorexia
- Low FSH, LH, oestrogen, testosterone
- Hypokalaemia
- Low T3
- Hypercholesterolaemia
- Impaired glucose tolerance
G’s and C’s raised: growth hormone, glucose, salivary glands, cortisol, cholesterol, carotinaemia (orange coloured skin (carrot lol))
Most other things low
What is Bulimia nervosa
Binge eating followed by purging, but inducing vomiting or taking laxatives.
Unlike anorexia, body weight tends to stay roughly normal.
Lack of control during eating episodes, and associated compensatory behaviours (vomiting, laxatives, exercise etc), occuring at least 1nce weekly for 3 months.
Self evaluation unduly influenced by body shape/weight
How does Bulimia present
Normal(ish) body weight
- Erosion of teeth
- Swollen salivary glands
- Reflux
- Mouth ulcers
- Calluses on knuckles from scraping on teeth (Russell’s sign)
Alkalosis if repeat vomiting
What are undescended testes and what are possible complications
Normally, testes develop in abdomen, migrate down through inguinal canal and into scrotum.
In 5% of boys, they may not descend (cryptochoridsm). May be palpable in inguinal canal.
Can lead to testicular torsion, infertility and testicular cancer.
Risk factors for undescended testes
- Family history
- Low birth weight
- SGA
- Prematurity
- Maternal smoking
Management of undescended testes
Most will descend in firt 3-6 months. If not, orchidopexy.
If bilateral, review urgently.
What are retractile testicles
Testicles that move back into inguinal canal when cold or cremasteric reflex is triggered.
What is testicular torsion and how does it present
Medical emergency
Twisting of spermatic cord causing ischaemia and necrosis.
- Severe sudden pain that may refer to lower abdo.
- Swollen tender testis retracted upwards (high riding)
- Lost cremasteric reflex
- Elevation doesnt ease pain (Prehn’s sign)
4 risk factors for testicular torsion
- Adolescent
- Bell clapper deformity
- Cryptochordism
- Trauma
Management of testicular torsion
Emergency surgery within 6 hrs.
Bilateral detorsion and orchidopexy (fixing to scrotal sac)
If unviable, Orchiectomy
Manual detorsion if surgery not possible for 6 hrs
What is Kallmann’s syndrome
As part of an X linked recessive trait, Kallmann’s is a cause of delayed puberty secondary to hypogonadotrophic hypogonadism.
Thought to be failure of GnRH-secreting neurones to migrate to hypothalamus
How does Kallmann’s present and whats it typical picture
TP
- Boy with lack of smell and delayed puberty
Presentation
- Delayed puberty and lack of smell
- Hypogonadism, cryptochordism
- Low sex hormones
- LH, FSH levels low
- (normal height)
- Cleft palate, visual/hearing defects in some patients
How is Kallmann’s managed
Testosterone supplementation
Gonadotrophin supplementation may result in sperm production if fertility desired
When is normal puberty, and how does it normally happen
8-14 in girls
9-15 in boys
Both take about 4 years and girls usually have pubertal growth spurt first.
In girls, breast buds -> pubic hair -> menstrual periods (~2 years post start)
In boys, enlargement of testicles -> then of penis -> darkening of scrotum -> pubic hair and deepening of voice
Staged with tanner staging
What is Hypogonadism and what are its types
Hypogonadism - Lack of sex hormones (oestrogen or test), that normally rise just before puberty, causing a delay.
Can be hypogonadotrophic (deficiency of LH and FSH) or hypergonadotrophic (lack of response to LH and FSH by gonads)
Causes of hypogonadotrophic hypogonadism
- Previous damage to hypothalamus/pituitary
- GH deficiency
- Hypothyroidism
- Hyperprolactinaemia
- Chronic conditions (CF, IBD)
- Excessive dieting/exercise (esp in girls)
- Kallmann Syndrome
Causes of hypergonadotrophic hypogonadism
Gonads fail to respond to stimulation. Lack of negative feedback means anterior pituitary produces increased LH and FSH.
- Damage to gonads (T Torsion, Cancer, Infections)
- Congenital absence
- Kleinfelter’s (XXY)
- Turner’s (XO)
How is hypogonadism investigated
Start investigations in boys at 14 or girls at 13 if no evidence of puberty, OR no progress in 2 years.
Investigate for
- Anaemia/Coeliac
- Early morning LH/FSH
- Thyroid function
- IGF-1 (GH deficiency check)
- Prolactin
- X ray of wrist (Bone density)
- MRI brain (pituitary/olfactory bulbs (Kallmann))
What is precocious puberty in boys and girls
development of secondary sexual characteristics before 8 years in females and 9 years in males.
<8yo in girls
<9yo in boys
More common in girls
How can precocious puberty present
Girls
- Thelarche (Breast development)
- Pubic (adrenarch)/underarm hair growth
- Menarche
- widening of hips and body fat distribution
Boys
- Facial, pubic, underarm hair
- Deep voice
- Enlarged testes/penis
- Increased muscle mass
How can precocious puberty be classified
Gonadotrophin dependent (central/true)
- Premautre activation of HPG axis
- FSH and LH RAISED
Gonadotrophin independent (pseudo/false)
- Excess sex hormones
- FSH and LH LOW
What are central and peripheral causes of precocious puberty
Central
- Idiotpathic (Most common, esp girls)
- Brain lesions (tumours, infections, malformations e.g. hydrocephalus, radiation)
- Mutations
Peripheral
- Less common, moreso have a cause (tumour etc)
- Ovarian cysts/tumours
- Testicular tumours
Bilateral test enlargement - GNRH from intracranial lesion
Unilateral - Gonadal tumour
Small - Adrenal cause (tumour/hyperplasia)
In girls it is normally idiopathic and follows normal course
What is congenital adrenal hyperplasia
Autosomal recessive deficiency in cortisol and aldosterone production, and overproduction of androgens from birth.
Lack of cortisol = extra ACTH = excess adrenal androgens, causing virilisation of females and young males.
Pathophysiology of CAH
21 hydroxylase converts progesterone to aldosterone and cortisol. Progesterone is also used to make testosterone, but this conversion does not rely on the 21-hydroxylase enzyme.
In CAH, there is a deficiency of 21-hydroxylase. Hence, the extra progesterone gets converted to testosterone, causing patient to have low aldosterone, low cortisol and abnormally high testosterone.
Why does skin pigmentation occur in CAH
Anterior pituitary responds to low levels of Cortisol by producing extra ACTH. A byproduct of this production is Melanocyte Stimulating Hormone production, stimulating production of melanin in cells
Causes of congenital adrenal hyperplasia
Most common: 21-hydroxylase deficiency
- Impairs conversion of 17-hydroxyprogesterone to 11-deoxycortisol, causing cortisol deficiency and excess androgen production
11-beta hydroxylase deficiency
- Results in HTN due to excess deoxycorticosterone
17-hydroxylase deficiency
- mineralocorticoid excess and low androgen and estrogen levels
Clinical features of Congenital adrenal hyperplasia
Depend on deficiency and severity.
Virilisation
- Excessive androgen exposure makes females present with ambiguous genitalia and male features
Salt wasting crisis
- Dehydration, hypotension, electrolyte imbalances
- 75% of 21-hydroxylase deficiency
Precocious puberty
Infertility
Height and weight acceleration, deep voice, facial hair, absent periods, large penis, small testicles
Skin hyperpigmentation (due to excess ACTH causing melanocyte stimulating hormone release)
How is congenital adrenal hyperplasia diagnosed
ACTH stimulation testing
- Evaluates adrenal gland’s response to ACTH, with abnormal increase in 17-hydroxyprogesterone indicating CAH
Management of CAH
Hydrocortisone (glucocorticoid) - Reduce ACTH levels and minimise androgen production
Fludrocortisone if mineralocorticoid deficiency
Females with virilisation may need surgery
What are glucocorticoids and mineralocorticoids
Glucocorticoids e.g. cortisol, main stress hormone. Reduce inflammation, raise glucose, suppress immune system. Levels fluctuate, highest in morning and during stress. Released in response to ACTH from anterior pituitary
Mineralocorticoids e.g. Aldosterone. Act on kidneys to control salt and water balance. Released by adrenal in response to renin. Aldosterone acts on kidneys to increase sodium reabsorption and potassium excretion from blood.
What are some hypothalamic tumours and how do they present
Hypothalamic Hamartoma
- Benign, associated with gelastic (laughing) seizures and precocious puberty
Craniopharyngioma
- Benign, derived from Rathke’s pouch, cause growth failure, delayed puberty, diabetes insipidus
Gliomas
- Usually cause visual disturbance and hydrocephalus due to CSF obstruction and associated with neurofibromatosis type 1
Germinomas
- Hypopituitarism, precocious puberty, DI
What is androgen insensitivity syndrome (overview)
X linked recessive condition. End organ resistance to test causes genotypically male (46XY) children to have female phenotype.
Presents with:
- Primary amenorrhead
- Little/no axillary and pubic hair
- Undescended tests -> groin swelling
- Breast development (testosterone -> oestradiol)
Buccal smear or chromosomal analysis.
Manage with orchidectomy
When should obseity in children be investigated
Consider intervention if BMI at 91st centile or above
Consider comorbidity assessment if 98th centile or above
Overweight if BMI >85th centile and obese >95th centile
What are some epidemiological associations with childhood obesity
- Asian - 4x more likely
- Female
- Taller children
Causes of obesity in children
Lifestyle factors!
GH deficiency
Hypothyroidism
Down’s
Cushing’s
Prader-Willi syndrome
Consequences of obesity in kids
Ortho problems
- Slipped upper femoral epiphyses
- Blount’s disease (developmental abnormality of tibia -> bowed legs)
Psychological consequences
- Bullying, low self esteem
Sleep apnoea
Benign intracranial HTN
Longer term
- T2DM, HTN, IHD
When does weight loss in a newborn baby become concerning
Weight loss in first 5 days can be normal
Breast fed ~10%
Formula fed ~5%
Should be back to birth weight by day 10
What is Down’s syndrome
Tisomy 21 (3 copies), causing characteristic physical features e.g. flattened facial profile, upward slanted eyes, single palm crease.
Also presents with intellectual disability, developmental delays, and increased risk of certain conditions.
What are the face features associated with Down’s
- Brachycephaly (small, flatback head)
- Flattened, round face
- Upward slanting eyes
- Epicanthal folds
- Brushfield spots in iris
- Small, low-set ears
- Protruding tongue
What are the most common cardiac complications of Downs
In order of commonness:
Endocardial cushion defect (AV Septal canal defects)
Ventricular septal defect
Atrial septal defect
Tetralogy of fallot
Patent ductus arteriosus
What are other features associated with Downs
Single palmar crease
Hypotonia
Congenital heart defects
Duodenal atresia
Hirschprung’s disease (aganglionic bowel = constipation)
Later complications of Downs
- Sub/infertility
- Learning difficulties
- Short stature
- Repeated resp infection and glue ear
- Hypothyroidism
- Alzheimer’s
- ALL
- Atlantoaxial instability
What antenatal screening is done for Downs
Best: Combined test (11-14 weeks)
- USS measures nuchal thickness (back of fetal neck). >6mm is significant.
- bHCG. Higher=greater risk
- PAPP-A (pregnancy associated plasma protein A) - Lower result=greater risk
Triple and Quadruple tests also done if booked later (14-20 weeks)
T: bHCG, AFP (lower=risk), and serium oestriol (lower=risk)
Q: adds inhibin A (higher=risk)
All bloods are maternal
What antenatal testing is done for Downs
If higher risk (>1 in 150), either second screening, or diagnostic test.
NIPT - second screening but non invasive, so may be preferred. Analyses cell free fetal DNA (cffDNA) in maternal blood. 99% sensitivity and specificity
Diagnostic tests:
Chorionic Villus Sampling - USS guided biopsy of placental tissue <15 weeks
Amniocentesis - later in pregnancy, when enough amniotic fluid to take safe sample
What tests should be regularly done in Downs, and name some MDT involved in their care (probably dont need to know but watch them ask)
- Thyroid (2 yearly)
- Echocardiogram
- Regular audiometry and eye checks
Occupational therapy
Speech and language therapy
Physiotherapy
Dietician
Paediatrician
GP
Health visitors
Cardiologist for congenital heart disease
ENT specialist for ear problems
Audiologist for hearing aids
Optician for glasses
Social services for social care and benefits
Additional support with educational needs
What are the Trisomy disorders
Trisomy 21 - Downs
Trisomy 18 - Edwards
Trisomy 13 - Pataus
How do Edwards and Pataus present
Pataus
- Microcephalic, small eyes
- Cleft lip/palate
- Polydactyly
- Scalp lesions
Edwards
- Micognathia (small lower jaw)
- Low-set ears
- Overlapping of fingers
- Rocker bottom feet (convex foot bottom - present in both)
How do Edwards and Neural Tube Defects show on Quadruple test
E: Low HCG, Oestriol and AFP
NTD: Raised AFP
What is Klinefelter syndrome
When a male has an additional X chromosome, becoming 47XXY instead of the normal 46XY
Extra X chromosomes (48XXXY etc) can occur, having more severe features
Chromosomal Nondisjunction
How does Klinefelter present and whats prognosis like
Develop as normal until puberty, then develop features
- Taller
- Wider hips
- Gynaecomastia
- Weak muscles, small testicles, reduced libido
- Shyness
- Infertility
- Low test but high gonadotrophin
Life expectancy close to normal. Slight increase in risk of:
- Breast cancer (still less than F)
- Osteoporosis
- Diabetes
- Anxiety/depression
What is Turner’s syndrome and how does it present
When a female has a single X chromosome, making them 45 XO. (O refers to an empty space). Caused by either presence of only 1 X or deletion of short arm of one.
- Short stature, webbed neck, widely spaced nipples
- Cubitus valgus (when arm is extended down with palm facing out, angle of forearm is exaggerated)
- Underdeveloped ovaries with reduced function (infertile)
- Late/incomplete puberty
- Primary amennorhoea
- Lymphoedema in neonates (feet)
- Horseshoe kidney
- Bicuspid aortic valve causing ejection systolic murmur
What conditions are associated with Turners
- Recurrent otitis media and UTI
- Coarctation of aorta and bicuspid valve, causing ejection systolic murmur
- Hypothyroid
- Obesity, diabetes, HTN, osteoporosis
- Learning disabilities
- Autoimmune disease (thyroid, crohns)
What is Fragile X syndrome
Trinucleotide repeat disorder, affecting FMR1 (Fragile X Mental Retardation 1) gene on X chromosome. (CCG)
Affects boys much more severely than girls
Presentation and diagnosis of Fragile X
- Learning difficulties
- Large low set ears, long narrow face, high arched palate
- Macroorchidism
- Hypotonia
- Autism
- Mitral valve prolapse
- Antenatal by Chorionic villus sampling or amniocentesis
- Analysis of CCG repeats using restriction endonuclease digestion and Southern blot analysis
What is Duchenne Muscular Dystrophy and how does it present
X linked recessive inherited disorder or dystrophin genes required for normal muscle function.
- Progressive proximal muscle weakness from 5 years.
- Calf pseudohypertrophy
- Gower’s sign: Child uses arms to stand up from squat position
What do investigations show in Duchenne muscular dystrophy and what is its prognosis
- Raised CK
- Genetic testing definitive
Prognosis
- Most cant walk by 12
- 25-30 yo life expectancy
- Associated with Dilated Cardiomyopathy
What is Noonan syndrome
Autosomal dominant condition (C12 maybe?) “Male Turners”
- Webbed neck, widely spaced nipples, short stature, pectus carinatum and excavatum
- Ptosis
- Tringular face
- Lowset ears
- Factor XI deficiency and pulmonary valve stenosis
What is Prader Willi Syndrome?
Prader-Willi Syndrome is a loss functional genes on the proximal arm of chromosome 15.
Can be due to a deletion of chromosome, or when both are inherited by mother.
Called Angelman syndrome if deletion is from mother (or both inherited from father)
How does Prader Willi present
Hypotonia during infacny
Constant hunger that leads to obesity
Dysmorphic features
Hypogonadism and infertility
Short stature
How is Prader Willi managed
Growth hormone, aimed at improving muscle development and body comp.
What is Angelman Syndrome
Deletion of MATERNAL chromosome 15, or inheritance of both from father. Like Prader Willi but the other way round.
How does Angelman Syndrome present
- Fascination with water
- Happy demeanour
- Widely spaced teeth
- Hand flapping
- Epilepsy
- Abnormal sleep patterns
- Dysmorphic features
What is William Syndrome and how does it present
Random microdeletion on chromosome 7.
- Starburst eyes
- Wide mouth/big smile
- Small chin
- Elfin-like facies
- Very friendly and sociable
- Short stature
What is William syndrome associated with
Supravalvular aortic stenosis
ADHD
Hypertension
Hypercalcaemia (low calcium diet in management)
What is Osteogenesis imperfecta, and how does it present
Group of disorders affecting collagen formation, cause bones to be brittle. Autosomal Dominant
- Hypermobility
- Blue sclera
- Fractures following minor trauma
- Deafness seconday to otosclerosis
- Dental imperfections
How do main bone investigations present in Osteogenesis imperfecta
Calcium, phosphate, PTH, ALP usually normal
How is Osteogenesis imperfecta managed
Bisphosphonates to increase BMD
Vit D supplementation
What is Rickets, and what are predisposing factors
Inadequately mineralised bones, causing soft and easily deformed bones. (osteomalaica, but in kids)
Usually due to vit D deficiency
- Dietary deficiency of calcium (e.g. developing countries)
- Prolonged breastfeeding
- Unsupplemented cows milk formula
- Lack of sunlight
How does Rickets present
Abnormalities
- Genu varum (bow legs) - younger kids
- Genu valgum (knock knees) - older kids
Also:
- Aching bones/joints
- Rickety rosary (swelling of costochondral junction)
- Kyphoscoliosis
- Crainotabes (soft skull delayed closure of sutures)
- Harrison’s sulcus
Investigations in rickets
Serum 25-hydroxyvitamin D - low
X ray - osteopenia (radiolucent bones)
Calcium and phosphate maybe low
ALP and PTH maybe high
Management of rickets
Oral vit D - Ergocalciferol + calcium supplementation
*Bow legs normally self resolve by 4
What is transient synovitis and how does it present
Transient inflammation of the synovial membrane of the hip following a viral URTI. Most common cause of hip pain in children aged 3-10.
- Limping
- Refusal to weight bear
- Hip/groin pain
- NO/LOW GRADE FEVER (If fever, treat for septic!)
Management of transient synovitis
- Exclude septic ASAP. If generally unwell, admit. Otherwise, significant improvement within 48 hours, with full recovery in 1-2 weeks.
What is septic arthritis
Infection within a joint. Most common in under 4s. Emergency, can destroy joint and cause sepsis.
Common complication of joint replacement
How does septic arthritis present
Single, hot, swollen, red joint
Non weight bearing
Stiffness and reduced motion
Systemic symptoms (fever, lethargy, malaise)
What bacteria commonly cause septic arthritis
Staph aureus
N gonorrhoea (sexually active)
Group A strep (pyogenes - under 5)
H influenzae
E coli
Investigations of septic arthritis, and how long should abx be done for
Joint aspiration
- Yellow/cloudy, high WCC, culture positive, neutrophils
- Send for gram staining, culture, antibiotic sensitivity and crystal microscopy
- Take before antibiotics
Blood culture.
3-6 weeks,
What scoring criteria is used to diagnose septic arthritis
- Fever>38.5 (high grade)
- Non weight bearing
- Raised ESR
- Raised WCC
What is osteomyelitis and what are its types
Infection of bone/marrow
Haematogenous
- Results from bacteraemia, monomicrobial
- Most common form in children
- Vertebral osteomyelitis is most common in adults
Non haematogenous
- Contiguous spread from adjacent infection; tissues, bone, direct injury/trauma to bone
- Most common form in adults, often polymicrobial
Risk factors for the 2 types of osteomyelitis
Haem
- Sickle cell, IV drug use, immunosuppression, IE
Non haem
- Diabetic foot, DM, PAD, penetrating injury, cellulitis
What microorganisms most commonly cause osteomyelitis
Staph aureus most common
P aeurginosa (gram negative rod)
Salmonella (important in sickle cell)
N gonorrhoea
M Tuberculosis
What is the imaging modality of choice in osteomyelitis. What might you see on initial imaging investigation
MRI, X ray can be normal, but possible signs are:
- Involucrum/sequestrum (fallen leaf sign)
- Periosteal thickening
- Lytic lesions
- Cortical bone less
Management of Osteomyelitis
6 weeks flucloxacillin
Clindamycin if allergic
Surgical debridement may be needed
(abscess, failure to respond, vertebral osteomyelitis)
What is slipped upper/capital femoral epiphysis
Rare hip condition seen usually in obese boys, where head of femur is displaced along growth plate, postero-inferiorly. ~12 years.
Presentation of slipped upper femoral epiphysis
Hip pain, can be longstanding, usually following minor trauma (disproportionate to pain)
- High, groin, thigh, knee pain
- Leg preferred in external rotation, restricted internal rotation due to pain.
- Painful limp
- Can be bilateral or unilateral
Investigation and management of slipped upper femoral epiphysis
X ray normally diagnostic (antero-posterior and lateral, frog leg views)
Managed surgically with internal fixation, with a single cannulated screw in the centre of the epiphysis
Complications of SUFE
Osteoarthritis
Avascular necrosis of femoral head
Chondrolysis
Leg length discrepancy
What is Osgood-Schlatters disease with pathophys
Inflammation at the tibial tuberosity, where the patella ligament inserts. Common cause of anterior knee pain.
Tibial tuberosity is at epiphyseal plate. Stress from running, jumping etc causes apophytis (ligament inflammation). Multiple avulsion fractures, where patella pulls away bits of bone, causing a visible lump under the knee. This starts hard and tender but eventually heals to be non tender.
Presentation of Osgood Schlatter
- Visible/palpable hard lump at tibial tuberosity
- Pain in anterior aspect of knee
- Pain exacerbated by activity
Management of Osgood Schlatter and what is the main complication
Supportive
- Ice
- Reduction in activity
- NSAID
Physiotherapy after to strengthen joint
Complication: Full avulsion fracture - tibial tuberosity is pulled away from rest of tibia
What is Developmental Dysplasia of the Hip, what can it lead to and when is it normally picked up?
Congenital hip abnormality causes instability and potential for subluxation (partial) or full dislocation.
Can lead to weakness, recurrent dislocation, abnormal gait, or early degenerative changes.
Usually picked up during newborn examination or when child presents with hip asymmetry.
Risk factors for developmental dysplasia of the hip
- First degree family history
- Breech from 36 weeks
- Breech at birth if 28 weeks
- Multiple pregnancy
- Female
- Firstborn
How is developmental dysplasia of the hip screened for
During NIPE Exam 6-8 weeks.
Features suggesting DDH:
- Different leg lengths
- Restricted hip abduction on one side
- Significant bilateral restriction in abduction
- Different in knee level when hips flexed
- Clunking of hips during special tests
If breech, do USS at 6 weeks ALWAYS
DDH Screening special tests
Ortolani test - baby on back with knees and hips flexed. Palms on baby’s knees with thumbs on inner thigh and four fingers on outer thigh. Gently abduct and apply pressure behind legs to see if legs dislocate anteriorly
Barlow test - Baby on back with hips adducted and flexed to 90 and knees bent to 90. Gentle downward pressure applied to knee to see if femoral head will dislocate posteriorly.
(clicking is a common finding -> hip will be normal on USS. Clunking more likely to indicate DDH, requires USS)
Management of DDH
Most will stabilise by 3-6 weeks
If <6 months of age, Pavlik harness is fitted and kept on permanently, holding the femoral head in the correct position and allowing acetabulum (hip socket) to take correct shape.
Pavlik harness keeps hips flexed and abducted.
Usually removed after 6-8 weeks.
What is discoid meniscus
A congenital abnormality where the meniscus (usually C shaped) ends up disc shaped, commonly affects lateral meniscus. 6-10 years
Makes the meniscus broader, thicker and more circular causing pain, swelling, clicking, decreased range of motion and locking/giving way of the knee
Types of discoid meniscus
- Complete: Meniscus fully covers tibial plateau
- Incomplete: partially covers
- Wrisberg: Lacks posterior tibial attachments, much more instability, clicking and locking
Investigations and complications of a discoid meniscus
- MRI is Gold standard imaging
Untreated:
- Early onset osteoarthritis
- Post meniscectomy: pain, instability, join degeneration etc
What is Juvenile Idiopathic Arthritis
Inflammatory arthritis lasting >6 weeks in someone younger than 16.
If there are systemic symptoms its called Still’s disease
Presentation of Stills disease
- Subtle salmon pink rash
- High swinging fevers
- Enlarged lymph nodes
- Weight loss
- Joint inflammation/pain
- Muscle pain
- Pleuritis/pericarditis
Investigations in JIA
ANA may be raised (associated with anterior uveitis)
RF negative
Raised: CRP, ESR, platelets and ferritin
What are important types of JIA
Oligoarticular - 1 joint, girls under 6, anterior uveitis (refer to ophthalmology) ANA positive
Polyarticular - >5 joints, symmetrical, may have fever, anaemia, reduced growth
Enthesitis related - Involves inflammation where tendon inserts into muscle. HLAB27, psoriasis, anterior uveitis.
Psoriatic - Skin psoriasis and associated hand changes (pitting, onycholysis, dactylitis, enthesitis)
How is JIA managed
Paediatric rheumatology
- NSAID
- Steroids
- DMARD (methotrexate etc)
- Biologics (Anti-TNF etc)
What is Scoliosis, with types, presentation and examination
- Lateral (coronal plane) spinal curvature >10 degrees, often has vertebral rotation.
- Affects females most and can be congenital, neuromuscular, syndromic (marfans, ehlers danlos)
- Affects females more
- Uneven shoulders, hips, ribcage asymmetry, back pain
- Adams forward bend test, rib hump on side of bend.
- Cobb angle>10 = scoliosis. >50 progress into adulthood.
What is Torticollis
A condition where the head is tilted one way but rotated to the opposite side.
Can be congenital or acquired
Presents with head tilt to one side and rotation to other. Palpable mass or tightness in sternocleidomastoid (fibrosis)
USS to assess SCM
Physio, botulinum toxin, surgery etc for management
Good prognosis if physio, resolved by 1 yr
How does physiological jaundice present, and why does it occur
Mild jaundice and scleral ictera from 2-7 days, resolves in 10.
Fetal RBC break down quicker, but bilirubin normally excreted via placenta. At birth, no placenta, so rise in bilirubin while liver develops and starts removing bilirubin
What are causes of jaundice in the first 24 hours
ALWAYS pathological
Increased production
- Haemolytic disease of the newborn
- ABO or Rhesus haemolytic disease
- Haemorrhage
- G6PD deficiency
- Sepsis!
Decreased clearance
- Prematurity
- Breast milk jaundice
- Neonatal cholestasis
- Extrahepatic biliary atresia
- Gilbert syndrome
What are some complications of neonatal jaundice
Kernicterus - Bilirubin crosses blood brain barrier causing CNS damage. Presents with less responsive, floppy, drowsy baby with poor feeding.
Deafness
Developmental delay
Acute bilirubin encephalopathy
What are some causes of jaundice >14 days
- Biliary Atresia
- Hypothyroidism
- Galactosaemia
- Breast milk clearance
- Prematurity
- Congenital infection (CMV, toxoplasmosis)
What tests should be performed in prolonged jaundice
- Conjugated/unconjugated bilirubin
- Direct Coombs antiglobulin test
- TFT
- FBC/blood film
- U&E and LFT
- Urine MCS
Baby presents with anaemia and jaundice. Mother had bleeding early in pregnancy. Whats going on
Haemolytic disease of the newborn (Rhesus disease)
How is neonatal jaundice managed
Treatment threshold chart - GA of baby (hours) against total bilirubin
Phototherapy first line, extremely high may require exchange transfusion (remove blood from neonate, replace with donor)
How does phototherapy work
Blue light (little/no UV) is used to break down unconjugated bilirubin into isomers, meaning they can be excreted in bile and urine without conjugation.
Measure rebound bilirubin 12-18 hours later to ensure no further treatment needed
Why does Neonatal Hypoxia occur and what can it cause
When contractions occur, the placenta cant carry out gas exchange, leading to hypoxia. Extended hypoxia leads to anaerobic respiration and a drop in heart rate (bradycardia).
Further hypoxia reduces consciousness and drop in respiratory effort, worsening hypoxia. Extended hypoxia leads to hypoxic-ischaemic encephalopathy, can cause cerebral palsy.
How to resuscitate a newborn
(First 30 secs)
- Dry and warm baby ASAP.
- Assess babys tone (floppy?), breathing (chest moving?), HR (Ideally >100bpm)
If not gasping/breathing or HR<100
- open airway and give 5 inflation breaths (5 breaths 2/3 secs each, aiming for chest rise)
Reassess HR and chest movements
- If HR60-100, continue with ventilation breaths 40/60 a min.
- If HR<100, begin compressions, at 3 compressions to 1 breath. (90 compressions and 30 breaths per min)
- Reassess HR every 30 seconds
What are 4 reasons a baby may need resuscitation
Hypoxia
Hypovolaemia
Hypoglycaemia
Hypothermia
What score is used to determine if a baby needs resuscitation? When should it be done?
APGAR - 1, 5 and 10 mins after birth
A - appearance (colour)
- 0: Blue/pale
- 1: pink, but extremities blue
- 2: Pink
P - Pulse
- 0 No HR, 1 for <100, 2 for >100
G - Grimace (reflex irritability - suctioning, gentle slap on soles of feet etc)
- 0: No response, 1: grimace/weak cry, 2: vigorous cry, pull away etc
A - Activity
- 0: Limp, 1: some flexion of arms/legs, 2: Active motion, well flexed limbs
R - Respiration
- 0: No breathing, 1: weak, irregular, gasping breaths, 2: Strong, regular breathing, crying
> 7 = good
4-6 = moderate low
<3 = Bad
What is placental transfusion
Delayed cord clamping - significant fetal blood in placenta, allows it time to enter baby circulation. Improves Hb, iron stores, BP, reduces intraventricular haemorrhage, necrotising enterocolitis.
Does cause more neonatal jaundice.
If they require resus, dont wait.
What is Neonatal Respiratory Distress Syndrome
Premature neonates - usually <32 weeks, before lungs start producing surfactant. Causes high surface tension in alveoli, causing atelectasis (lung collapse) as alveoli and lungs cant expand.
Causes inadequate gas exchange, causing hypoxia, hypercapnia, respiratory distress.
What does X ray show in RDS and how is it managed
X ray shows ground glass appearance (bilateral infiltrates)
Management
- Antenatal steroids (Dexamethasone) to mother with suspected/confirmed preterm labour, increases surfactant production.
- Intubation/ventilation of child
- Endotracheal surfactatnt
- CPAP
- O2 sats maintained 91-95
Short and long term complications of respiratory distress syndrome
Short
- Pneumothorax
- Infection
- Intraventricular haemorrhage
- Apnoea
- Pulmonary haemorrhage
- Necrotising enterocolitis
Long
- Chronic lung disease of prematurity
- Retinopathy of prematurity
- Neurological, hearing, visual impairment
When is surfactant produced in neonates
24-34 weeks gestation, by type 2 alveolar cells
What is Caput Succedaneum
Fluid collection on the scalp, outside the periosteum, and hence, crosses suture lines.
Caused by a traumatic, prolonged, or instrumental delivery. Usually no discoloration of the skin, and resolves on its own in days
Caput SuccaDAYneum (Crosses Sutures) - resolves within a few days
What is Cephalohaematoma
AKA traumatic subperiosteal haematoma. (between skull and periosteum)
Caused by damage to blood vessels in traumatic, prolonged, instrumental delivery.
Presents as discolouration and lump, which does not cross suture lines.
Resolves on its own over months. Risk of anaemia and jaundice.
cephalohaematoMONTH (doesn’t cross sutures) - resolves within a few months
What is a common complication of a forcep delivery
Facial paralysis - Caused by damage to facial nerve, one sided symptoms. Function returns on its own in a few months
What is Erbs palsy and how does it present
Damage to C5/C6 nerves in brachial plexus during birth. Associated with shoulder dystocia, traumatic/instrumental birth, or high birth weight.
Leads to weakness of shoulder abduction and external rotation, arm flexion and finger extension.
Causes waiters tip deformity:
- Internally rotated shoulder
- Extended elbow
- Flexed wrist pronated (facing backwards)
- Lack of movement.
(as if someone is discretely trying to take something being passed from behind)
Function returns spontaneously in months
How does fractured clavicle present and whats its main complication
- Lack of movement and asymmetry in affected arm
- Asymmetry of shoulders, affected arm lower
- Pain/distress on movment
Complication - injury to brachial plexus, causes nerve palsy
When should Hypoxic Ischaemic Encephalopathy be suspected, and what are some causes
- Events that could lead to hypoxia during the perinatal or intrapartum period
- acidosis (pH < 7) on the umbilical artery blood gas,
- poor Apgar scores
- Multi organ failure
Caused by:
- Maternal shock
- Intrapartum haemorrhage
- Prolapsed cord
- Nuchal cord (cord wrapped around baby neck)
How is HIE graded
Mild: poor feeding, generally irritable, hyper alert. Resolves in 24 hrs
Moderate: Lethargy, hypotonic, seizures. Takes weeks to resolve. 40% Cerebral palsy
Severe: Reduced consciousness, apnoea, flaccid, absent reflexes.
50% mortality, 90% palsy
When is therapeutic hypothermia used in HIE
When baby is close to term. Target 33-34C, measured with rectal probe. 72 hrs, then rewarmed over 6 hrs.
Reduces inflammation and neurone loss after initial injury. Reduces risks of complication
What is meconium aspiration syndrome and what are some risk factors
Respiratory distress in newborn caused by meconium in trachea. More common post term (44%>42 weeks).
Higher rates in
- Maternal HTN
- Pre eclampsia
- Chorioamnionitis
- Smoking
- Substance abuse
What vitamin needs to be supplemented in neonates
Vitamin K!
IM in thigh shortly after birth.
OR orally, immediately, 7 days and 6 weeks
What is blood spot screening
Blood spot screening - Day 5-9. Heel prick gets blood drops.
- Sickle cell
- CF
- Congenital hypothyroid
- Phenylketonuria
- MCADD
- MSUD
- IVA
-GA1
- Homocystin
What is Bronchopulmonary dysplasia
Chronic lung disease affecting premature infants, especially those on oxygen therapy. Results from lung injury caused by oxygen, pressure from ventilation and inflammation.
Pathophys of bronchopulmonary dysplasia
- Fewer, larger, simplified alveoli.
- Ventilator induced airway pressure damage and overdistension of alveoli
- Oxygen toxicity (rich oxygen species damage lung cells including alveolar epithelium and endothelial cells of blood vessels.
- Inflammation
Signs/symptoms of bronchopulmonary dysplasia
- Tachypnoea
- Persistent oxygen need
- Wheezing
- Failure to thrive
- Persistent infections
Investigations and complications of bronchopulmonary dysplasia
CXR - lung overinflation, atelectasis
History of O2/ventilation need >36 weeks in preterm infant.
- Pulmonary HTN
- Recurrent infection
- Developmental delay
- Growth retardation
- SIDS
What infections can be passed from mother to child in pregnancy
TORCH
T - Toxoplasmosis
Other (Syphilis, VZV, HIV)
R - Rubella
C - Cytomegalovirus
H - Herpes simplex
What is Toxoplasmosis caused by
Toxoplasma gondii (often from contaminated food or cat faeces)
Obligate intracellular protozoan
What are the RCH caused by
Rubella
CMV
Herpes simplex
All viral
What damage does Toxoplasmosis cause
Neurological
- Cerebral calcification
- Hydrocephalus
- Chorioretinitis
Ophthalmic
- Retinopathy
- Cataracts
In HIV, How can cerebral toxoplasmosis be managed and how does it present on CT
Pyrimethamine plus sulphadiazine, 6 weeks
Ring enhancing lesions
How do the TORCH infections present
T: Chorioretinitis, hydrocephalus, intracranial calcifications
R: Cataracts, Congenital Heart defects, sensorineural hearing loss, developmental delays
CMV: Sensorineural hearing loss, microcephaly, jaundice, hepatosplenomegaly
HSV: Vesicular skin lesions, encephalitis
How can TORCH infections be investigated
- Serology on maternal and infant blood (IgM, IgG)
- PCR testing for viral DNA
- USS (Fetal abnormalities - hydrocephalus, calcifications)
- Amniocentesis
What is necrotising entercolitis
Bowel disorder affecting premature neonates. Part of the bowel becomes necrotic and can lead to perforation, peritonitis, shock and sepsis
Risk factors for NEC
- Premature or very low birth weight
- Formula feeds
- Respiratory distress/assisted ventilation
- Sepsis
- Patent ductus arteriosus
How does necrotising enterocolitis present
- Feeding intolerance
- Green bilious vomit
- Distended tender abdomen
- Absent bowel sounds
- Blood in stools
How is NEC investigated
X ray
- Dilated bowel loops
- Bowel wall oedema
- Pneumatosis intestinalis (intramural gas)
- Pneumoperitoneum (free gas in peritoneal cavity - implies perforation)
- Air both inside and outside bowel wall
Management of NEC and complications of short bowel syndrome
NBM
IV fluids
TPN
ABx
Surgical emergency - short bowel syndrome is a complication.
Complications of NEC
- Perforation and peritonitis
- Sepsis
- Strictures
- Abscess
- Recurrence
What is Gastroschisis
Congenital defect in abdominal wall causes organs to protrude directly through the hole.
This normally presents to the right of the belly button.
Requires surgical correction, should be covered with cling film in mean time
How does Gastroschisis usually present
Abdominal organs protrude through hole to right of belly button.
No protective covering, meaning they can be irritated by amniotic fluid.
Isolated defect, no association
More common in young (teenage) mothers.
Good prognosis after surgery
What is Omphalocele
AKA Exomphalos
Abdominal organs protrude through abdominal wall (usually at the belly button), but are covered by an amniotic sac, made of amniotic membrane and peritoneum.
Unlike gastroschisis, has some associations, and associated with advanced maternal age.
What conditions are associated with Exomphalos/Omphalocele
- Bekwith-Wiedemann syndrome
- Downs (Trisomy 21, but also, 13 and 18)
- Cardiac and kidney malformations
How is Exomphalos/Omphalocele managed
C section indicated to reduce risk of sac rupture.
Staged repair - to allow lung development
- Sac allowed to granulate and epithelialise
- Forms a shell, when child big enough, contents can be put back into abdomen.
What are the types of bowel atresia and oesophageal atresia
Bowel (usually small bowel)
- Duodenal, Jejunal, Colonic
Oesophageal
- Oesophageal atresia with tracheosophageal fistula (TEF) most common
- Can be isolated atresia
- Results in a blind pouch or disconnected oesophagus
Presentation of bowel vs oesophageal atresia
Bowel
- Bilious vomiting
- Abdominal distension
- Failure to pass meconium
Oesophageal
- Drooling/choking post birth
- Difficulty swallowing
- Coughing, gagging, cyanosis
- Abdo distension
Investigations in bowel and oesophageal atresia
Prenatal USS
- Bowel: Polyhydramnios and bowel loops.
- Oesophageal: Polyhydramnios
X ray:
- Bowel: Dilated bowel loops. Double bubble sign in duodenal.
- Oesophageal: Confirm diagnosis - blind ending oesophagus. Air in stomach if TEF
OA will block NG tube being passed to stomach
Which atresia is polyhydramnios most common in
Oesophageal - impaired swallowing of amniotic fluid.
Also seen in duodenal atresia, less frequently in other bowel atresias.
Associations with bowel atesia
Downs (duodenal)
CF (jejunal/ileal atresia)
Associations with Oesophageal atresia
VACTERL abnormalities
- Vertebral
- Anorectal
- Cardiac
- Transoesophageal
- Renal
- Limb
- Downs, Trisomy 18
Immediate management of the atresias + Long term complications
Nasogastric decompression and fluid resuscitation (+prevention of aspiration in oesophageal)
Oesophageal: GORD, Oesophageal strictures, TEF
Bowel: Short bowel syndrome (if resected), malabsorption, need for nutritional support
Causes of bilious vomiting in a neonate
Duodenal atresia
- Few hours post birth, AXR shows double bubble sign
Malrotation with volvulus
- Incomplete rotation during embryogenesis, 3-7 days post birth
- Emergency, volvulus may cut off blodd supply, causing peritoneal signs
- Treat with Ladd’s procedure
Necrotising enterocolitis
- 2nd week of life
- Dilated bowel loops, pneumatosis, portal venous air
Meconium ileus
- 24-48 hrs, associated with abdo distension, CF
- Air-fluid levels on AXR
What is neonatal sepsis and what is it normally caused by
Infection in neonatal period. Non specific presentation; low threshold for treatment and high suspicion. Most common in late preterm infants
- Early (<72 hrs) Group B strep (Lives harmlessly in maternal vagina)
Late onset (7-28 days - post delivery environment, contact from parents)
- E coli (2nd most)
- Staph epidermidis
- Pseudomonas
- Klebsiella
- Enterobacter
- Staph aureus
Risk factors for Neonatal sepsis
- Vaginal GBS
- GBS sepsis in previous birth
- Maternal sepsis, chorioamnionitis, fever>38C
- PROM
- Early rupture of membranes
- Prematurity
- Current maternal UTI
Presentation of neonatal sepsis
Non specific
- Resp distress (grunting, nasal flaring, use of accessory muscles, tachypnoea)
- Tachycardia
- Jaundice
- Seizures (if meningitis)
- Vomiting
- Temperature (Can be high or low)
Investigations for neonatal sepsis
- Blood culture definitive. Ideally 2 cultures, to distinguish contamination
- FBC, CRP
- Blood gases (metabolic acidosis concerning)
- Urine MCS
- Lumbar puncture
Management of Neonatal sepsis
- IV Benzylpenicillin with gentamicin, first line.
- Remeasure CRP 18-24 hours after presentation, if <10 and negative culture, cease Abx
Maintain
- O2 sats
- Fluid/electrolyte status
- Prevention of hypoglycaemia and metabolic acidosis
What can be used to prevent apnoea of prematurity
Tactile stimulation
IV Caffeine
Brief overview of neonatal hyopoglycaemia
Normal term often have hypoglycaemia in first 24 hours, which is usually fine because they can use ketones and lactate as fuel. ~<2.6mmol/L
Transient hypoglycaemia common in the few hours post birth!
What can cause persistent/severe hypoglycaemia
- Preterm birth
- Maternal DM
- IUGR
- Hypothermia
- Neonatal sepsis
- Nesidioblastosis
- Beckwith-Wiedemann syndrome
Features of neonatal hypoglycaemia and management
May be asymptomatic - no treatment just breast feeding and monitoring.
Autonomic
- Jitteriness
- Irritability
- Tachypnoea
- Pallor
Neuroglycopenic
- Poor feeding/sucking
- Weak cry
- Hypotonia
- Seizures
- Drowsy
- Apnoea and hypothermia
If symptomatic, or very low,
- Admit to neonatal unit and IV infusion of 10% dextrose!
How many pregnancies are complicated by diabetes
1 in 20. 87% of these are gestational diabetes.
2nd most complicatin of pregnancy after HTN.
How is gestational diabetes screened for
Oral Glucose Tolerance Test
- ASAP After booking, again at 24-28 weeks.
- Fasting >5.6, 2-hour glucose >7.8
How is gestational diabetes managed
See in joint diabetes and antenatal clinic within week
If fasting glucose <7
- diet and exercise
- If doesnt work in 1-2 weeks, start metformin
- If that doesnt work add SHORT ACTING insulin
If fasting glucose >7m start insulin
Glibenclamide if cannot tolerate metformin, or decline insulin
How is pre existing diabetes managed in pregnancy
- Weight loss to BMI 27
- Stop all meds except metformin and start insulin
- Folic acid 5mg/day, pre conception to 12 weeks
- Detailed anomaly scan, including 4 heart chambers
- Retinopathy worsens during pregnancy
Glucose targets in diabetes
Fasting <5.3
1 hr post meal <7.8
2 hr post meal <6.4
Considerations in hypothyroidism in pregnancy
- Thyroxine safe in pregnancy, crosses placenta so need to increase dose by up to 50%
- Serum TSH measured each trimester and 6-8 weeks post partum
- Safe to breastfeed on thyroxine
- Complications include, miscarriage, anaemia, SGA, pre-eclampsia
How does pregnancy affect thyroid hormones
There is an increase in thyroxine-binding globulin, increasing total thyroxine but not free thyroxine
What does untreated thyrotoxicosis cause in pregnancy
Increases risk of
- Fetal loss
- Maternal heart failure
- Premature labour
What is a rise in Thyroid hormone during first trimester
Transient Gestational Hyperthyroidism
TSH receptor activated by HCG - increases in first trimester, decreases in 2 and 3
How is hyperthyroidism treated in pregnancy
Propylthiouracil!
(Risk of severe hepatic injury though)
Carbimazole associated with increased risk of congenital abnormality so not used
Keep maternal free thyroxine in upper 3rd of normal, so fetus gets enough thyroid hormone
Thyrotrophin receptor stimulating antibodies checked 30-36 weeks
NO RADIOIODINE
What is a cleft lip and palate
1in1000. Most common congenital abnormality affecting orofacial.
- Polygenic inheritance
- Maternal antiepileptic use increases risk
- Lip results from failure of fronto-nasal and maxillary processes to fuse
- Cleft palate from failure of palatine processes and nasal septum to fuse
Problems caused by cleft lip and palate
Feeding: Orthodontic devices
Speech: speech therapy
Increased risk of otitis media
Management of cleft lip and palate
Lip repaired first first week-3 months
Palate repaired 6-12 months
What is group B strep
Strep agalctiae. Transferred from mother to baby during labour. Harmless in maternal vagina but can cause serious infection; Sepsis, pneumonia, respiratory distress, meningitis
Late onset (7-89 days): Meningitis, bacteraemia, focal infections (bone joint tissue)
How is GBS prevented and what are its complications
Recto-vaginal swab for GBS at 35-37 weeks
Intrapartum antibiotics for at risk or confirmed
- Neurodevelopmental impairment (esp meningitis)
- High mortality (10-20%)
Risk factors for listeria infection
Listeria monocytogenes (Gram positive rod)
- Maternal consumption of contaminated food (Unpasteurised dairy, deli meat, smoked seafood)
- Immunocompromised
- Preterm birth
Investigations of listeria infection
Blood culture
CSF culture
Placental/cord culture
CSF analysis shows elevated protein, low glucose, increased WBC (pleocytosis)
Effect of listeria on child
Sepsis, meningitis, pneumonia
Management of listeria
IV Amoxicillin or ampicillin
+ Gentamicin
What is herpes simplex encephalopathy
Encephalitis caused by HSV-1
Usually attacks the temporal lobes, but also inferior frontal
Features of herpes simplex encephalopathy
- Fever, headache, psychiatric symptoms, seizures, vomiting
- Focal temporal lobe signs: Anterograde/Retrograde amnesia, Auditory hallucinations, Aphasia (Wernicke’s - posterior part of superior temporal gyrus), emotional changes, recognition changes
Investigation and management of HSV encephalitis
- CSF: lymphocytosis, elevated protein
- PCR for HSV
- CT: Medial temporal and inferior frontal changes (e.g. petechial haemorrhages). MRI preferred.
- EEG lateralised period discharges at 2Hz
Managed with aciclovir
How is hearing tested in children
Newborn - Otoacoustic emission test
Infants - Auditory brainstem response test
6-9 months - Distraction test
<2.5yo - Recognition of familiar objects
>2.5yo - Performance or speech discrimination testing
>3yo - Pure tone audiometry
How/when should you do CPR on a child (not baby)
when HR <60bpm (bradycardic).
Start with 5 rescue breaths, then 15 compressions: 2 breaths. 100-120/min, lower half of sternum.
Main causes of meconium ileus
Meconium hasnt passed.
CF
Hirschprungs
Big differentials to rule out
Red flag symptoms in a child
Really Sick Babies Get Antibiotics
1. Recessions (moderate or severe chest wall recessions)
2. Skin turgor reduced
3. Blue or mottled appearance
4. Grunting
5. Asleep (does not wake if aroused)
Shaken baby triad
Retinal haemorrhage, Subdural haematoma, Encephalopathy
What is hand foot mouth disease
Self limiting condition caused by coxsackie A16 and enterovirus 71
- Causes mild coryzal symptoms
- Oral ulcers
- Red vescilces on palms and feet
How are headlice diagnosed and treated
Diagnosed: Fine toothed combing of wet or dry hair
Malathion, wet combing, dimeticone, isopropyl myristate and cyclomethicone, Patient can choose
No school exclusion
What is infantile colic
Relatively common, benign presentation where baby (<3 months) has colic. Self resolves.
What is immune thrombocytopenic purpura in children
Immune/idiopathic reduction in platelet count.
Antibodies created against glycoprotein IIb/IIIa or Ib-V-IX complex.
Typically more acute in children, and normally follows infection or vaccination.
TYPE 2 HYPERSENSITIVITY
Features of ITP
Pupuric rash - non blanching spots of bleeding under the skin
Bruising
Bleeding less common - usually presents as nose or gum bleeding
Investigations in ITP
full blood count
- should demonstrate an isolated thrombocytopenia
blood film
bone marrow examinations is only required if there are atypical features e.g.
lymph node enlargement/splenomegaly, high/low white cells
failure to resolve/respond to treatment
Management of ITP in kids
Usually no treatment required
- ITP resolves in 80% of children within 6 months, with or without treatment
Avoid trauma (e.g. team sports)
If platelet count very low
- Steroids, IV immunoglobulins, platelet transfusion EMERGENCY only
How does ITP Contrast in adults compared to kids
More chronic, childrens tends to be acute and self resolves
More likely to bleed (catastrophic uncommon)
Managed with oral prednisolone
IV immunoglobulins raises platelet count faster
What is evans syndrome
ITP associated with autoimmune haemolytic anaemia
What is fanconi anaemia
Autosomal recessive
- Aplastic anaemia, increased risk of AML
- Neurological changes
- Short stature and thumb/radius abnormalities
- Cafe au lait spots (look like spilt tea or coffee)
What are the acquired haemolytic anaemias
Acquired (immune mediated - Coombs positive)
- Autoimmune: Warm/cold antibody type
- Alloimmune: Transfusion reaction, haemolytic disease of the newborn
- Drugs: Methyldopa, penicillin
Acquired
- Microangiopathic haemolytic anaemia: TTP/HUS, DIC, malignancy, pre-eclampsia
- Prosthetic heart valves
- Malaria
- Zieve syndrome: Coombs-negative haemolysis
Life threatening asthma exacerbation criteria
SpO2 <92%
PEF <33% best or predicted
Silent chest
Poor respiratory effort
Agitation
Altered consciousness
Cyanosis
What is intestinal malrotation associated with
- exomphalos,
- congenital diaphragmatic hernia
- intrinsic duodenal atresia
5 Ts of Cyanotic Heart Disease
The 5 Ts of Cyanotic Heart Disease, Truncus arteriosus (1 trunk), Transposition of the great arteries (2 great vessels), Tricuspid atresia (tri), Tetralogy of Fallot (tetra), Total anomalous pulmonary venous connection (5 words)
