Paediatrics Flashcards
Causes of pneumonia in children
Commonly viral: adenovirus, rhinovirus, influenza, RSV, parainfluenza
2nd most common= Streptococcus pneumoniae
Presentation of pneumonia in children
Temperature (over 38.5), rapid breathing/difficulty breathing
May have cough, vomiting, chest/abdo pain, decreased activity, loss of appetite/poor feeding
Management of paediatric pneumonia
Antibiotics if indicated. CXR and bloods, sputum culture. Supportive therapy.
What is croup and its presentation
Infection of upper airway (often parainfluenza virus) leads to obstruction of breathing and a barking cough
Px: originally begins with typical cold then 3-5 days of loud barking cough, fever, hoarse voice, noisy/laboured breathing. Symptoms worse at night
How to manage croup?
Who most commonly affected?
Manage at home with comfort measures
Common between 6 months and 3 years
Presentation of asthma?
Cough (nocturnal and worsens with virus), SOB, wheeze/whistling, chest congestion or tightness
Diagnosis of asthma in children?
If over 5: spirometry, PEF, allergy testing
If under 5: need to go off the history
If under 3: may use wait and see approach
How to identify a viral induced wheeze?
No wheeze with exercise, no wheeze except when a/w viral infections
How to manage a viral induced wheeze?
Reliever inhaler for the minority=SABA=salbutamol
If SABA 2-10 puffs PRN to max 4 hourly via a spacer
Otherwise, supportive/comfort care
Natural history of bronchiolitis?
Viral infection of bronchioles, commonly by RSV
Usually affects under 2s
Mainly in the winter and spring months
There is excess mucus, inflammation, constriction and oedema
Presentation of bronchiolitis?
Symptoms increase over 2-5 days: low grade fever, nasal congestion, rhinorrhoea, cough, feeding difficulty
Usually lasts 7-10 days
Investigations for bronchiolitis?
Nasopharyngeal aspirate or throat swab
RSV rapid testing and viral cultures
FBC
Home or hospital for bronchiolitis?
Hospital if severe apnoea/resp distress: grunting, RR>70, central cyanosis, sats<92%
Consider hospital if rr>70, inadequate fluids, clinical dehydration
No role for antibiotics, steroids or bronchodilators
Pathaphysiology of cystic fibrosis
Autosomal recessive mutation in CFTR (CF transmembrane conductane regulator gene)
DeltaF508 is commonest mutation
MUCUS
Reduced airway surface liquid impedes mucus clearance allowing excessive bacterial growth
Pancreas: duct occluded in utero leading to pancreatic insufficiency (can lead to CF-related DM)
GI: increased mucus can cause meconium ileus
Biliary tree: can have cholestasis leading to neonatal jaundice
Neonatal test to identify CF
Heel prick- Guthrie test
Investigations for CF:
Diagnosis= history and positive chloride sweat test
Sweat chloride over 60mmol/L suggestive, 40-60 is borderline
CXR, sweat test, glucose tolerance test, microbiology, LFT, coag, bone profile, PFTs- all generally involved in annual assessments
Heel prick, then genetic testing, then sweat test
Why are children more at risk of epiglottitis than adults?
Epiglottis is floppier, broader, longer and angled more obliquely to trachea and have a larger tongue
Therefore higher risk of acute airway obstruction
Aetiology of epiglottitis?
Reduced since the Hib vaccination
Normally Haemophilus infleunzae and Streptococcus pneumoniae which locally invade
V rarely due to trauma or non-infectious causes
Presentation of epiglottitis
4Ds
Dyspnoea, dysphagia, drooling, dysphonia (muffled hot potato voice)
Typically no cough
Symptoms in less than 12 hours
Stridor is a late sign
Tripod position- leans forward on outstretched arms with neck extended and tongue out
Management of epiglottitis
Secure airway before further investigation
Throat swabs, bloods, lateral neck Xray (thumb print sign, thickened aryepiglottic folds, increased opacity of larynx and vocal cords)
Oxygen, nebulised adrenaline, IV antibiotics (3rd gen cephalosporins eg ceftriaxone), IV steroids, nil by mouth until airway improved
What is acute otitis media
Symptoms
Severe pain and visible inflammation of tympanic membrane lasting days-weeks
Sxs: pain, malaise, fever, coryzal symptoms
What causes otitis media
Infection from nasopharyngeal organisms migrating via eustachian tube (which is shorter wider and straighter in children)
Bacterial= S.pneumoniae
Viral=RSV, rhinovirus
Investigations for otitis media
ALWAYS test function of facial nerve on examination
Otoscopy
Discharge sent for microscopy and culture
How to manage acute otitis media
Watch and wait- most spontaneously resolve within 24 hours
Simple analgesia
Complication monitoring= mastoiditis which will need IV abx
What proportion of children will have had at least 1 episode of otitis media by age 3
more than 2/3
What is otitis media with effusion
glue ear
Viscous inflammatory fluid build up leading to conductive hearing impairment via chronic inflammatory changes and eustachian tube dysfunction
What are risk factors for otitis media with effusion?
Bottle fed, paternal smoking, atopy, genetic disorders egCF and Downs
Presentation of otitis media with effusion?
Difficulty hearing and pressure sensation
O/E: TM will be dull and light reflex is lost, may see a bubble behind the TM
How to manage otitis media with effusion?
Active surveillance- around 50% resolve within 3 months
If no resolution may need hearing aids or myringotomy and grommet insertion
Indications for grommets?
Small plastic tubes inserted in opening in eardrum
Relieve OME if hearing loss is 25-30dB on 2 occasions 3 months apart
Causes of deafness in children (infections)
Temporary=OME
Meningitis, mumps and measles can cause it
Aetiology of tonsillitis
Viral mostly
Bacterial-group A strep most common (S.pyogenes)
Most common in age 5-15
Tonsillitis- bacterial vs viral assessment
Centor score:
Age, exudate, tender/swollen anterior cervical LNs, temp over 38, absent cough
Management of tonsillitis
Viral is self limiting
Bacterial- should swab for culture and commence antibiotics (usually benzylpencillin)
What is the epidemiology of periorbital cellulitis?
Peak in under 10s
Males twice as commonly affected
Peak occurrence in later winter and early spring
What are the causes of periorbital cellulitis?
Commonly from contiguous spread from sinuses with ethmoidal sinus being most common
Others= dental infection, trauma, foreign bodies, impetigo
S. pneumoniae and S. aureus
What is the classification used for periorbital cellulitis?
Chandler classification, types i-v
What is type I of chandler classification?
Pre-septal cellulitis- inflammation and oedema anterior to orbital septum
type II of chandler classification?
post-septal, orbital cellulitis:
inflammation into orbital tissue but no abscess formation
Eyelids may be swollen and may have conjunctival chemosis with variable degree of proptosis and visual loss
type III chandler classification?
subperiosteal abscess
Pronounced eyelid oedema, conjunctival chemosis and tenderness along orbital rim with variable degree of motility/proptosis/visual acuity changes
type iv chandler classification?
intra-orbital abscess-pus inside or outside muscle cone
Proptosis, conjunctival chemosis, decreased motility and visual loss can be severe
type v chandler classification?
Cavernous sinus thrombosis
Bilateral marked eyelid oedema and involvement of CNs III, V, VI
May have sepsis signs
How to manage periorbital cellulitis?
If mild preseptal can do from home with broad spectrum empirical abx
If more extensive- hospital, IV abx, supportive therapy
If large abscesses, intracranial complications at px and in frontal sinusitis, need urgent drainage
Complications of periorbital cellulitis?
Visual related (vision loss is 11%)- start to lose red colour vision (sign of optic nerve compromise) Neurological complications eg sepsis, intracranial abscess, cavernous sinus thrombosis
Describe the types of manifest and latent strabismus
Manifest: Esotropia=eye turns in Exotropia=eye turns out Hypertropia=eye goes up Hypotropia=eye goes down
Latent: Esophoria=inwards under occluder Exophoria=outwards under occluder Hyperphoria=up under occluder Hypophoria= down under occluder
what tests to identify strabismus
Cover test (manifest squint) Cover/uncover test (latent squint)
What are potential septal defects?
Ventricular septal defect
Atrial septal defect
Atrioventricular septal defect
Tetralogy of fallot
What is the most common septal defect?
VSD
What is eisenmenger’s syndrome?
A left to right shunt switches direction due to an increase in pressure of the low oxygen-containing side
CYANOTIC
Sizes of VSD and what it may cause
Small=restrictive VSD-generally asx
Moderate=dilatation of left atrium and ventricle, at risk of congestive heart failure and arrhythmias
Large=early HF and severe pulmonary hypertension, may develop eisenmenger’s syndrome
What presentation with VSD?
tachypnoea
SOB, feeding problems, developmental issues
undernourished, forehead sweat, increased breathing work, cyanotic, may have down’s syndrome, clubbing, hyperactive precordium, thrill, systolic murmur
Murmur for VSD and where to listen?
Systolic murmur (holosystolic, pansystolic or early systolic) Best heard over tricuspid area (lower left sternal border) with radiation to right lower sternal border
Gold standard diagnosis of septal defect?
Echo
Management of VSD?
Qp/Qs (pulmonary to systemic blood flow ratio) of at least 2.0 requires surgical repair
Aim to close large VSDs within first 2 years of life
75% of small VSDs close spontaneously by age 10
What is the second most common septal defect?
ASD
What are the 5 types of atrial septal defect?
patent foramen ovale (most common) ostium secundum defet ostium primum defect sinus venosus defect coronary sinus defect (least common)
Presentation of ASD?
Vast majority are asymptomatic
Large= tachypnoea, poor weight gain, recurrent chest infections
Type of murmur in ASD, and where to auscultate?
Soft systolic ejection murmur
Best heard in pulmonary area (left upper sternal edge)
RFs for ASD
maternal smoking in first trimester, maternal diabetes, maternal rubella, maternal drug use eg cocaine/alcohol
Management of ASD?
If less than 5mm, spontaneous closure within 12 months
Surgical closure required if bigger than 1cm
What group of people is more likely to have an atrioventricular septal defect?
People with Down’s syndrome
Describe the pathaphysiology of an AVSD?
2 types
Failure of endocardial cushions to fuse properly
Complete AVSD: large left to right shunt causes excessive pulmonary blood flow leading to HF and pulmonary vascular resistance
Partial AVSD: left to right shunt and volume overload of RA and RV but the pulmonary artery pressure is only mildly elevated
Presentation of AVSD?
Tachypnoea, tachycardic, poor feeding, sweating, failure to thrive, all with a complete AVSD are symptomatic by 1 year
Prominent sternal heave, murmur
Murmur in AVSD and where to auscultate?
Ejection systolic murmur in pulmonary area (left upper sternal border)
Mid-diastolic murmur over tricuspid area (left lower sternal border)
Holosystolic murmur might be heard at apex
Management of AVSD?
Surgical management as patients would die by age 2-3 without
Describe the tetralogy of fallot?
Ventricular septal defect
Pulmonary stenosis
Right ventricular hypertrophy
Overriding aorta
Most common cyanotic congenital heart disease
Presentation of tetralogy of fallot?
Mild=usually asx, but as disease progresses, develops cyanosis
Mod-severe=cyanotic and resp distress
Extreme= pulmonary atresia or absent pulmonary valves
Murmur
If tetralogy of fallot isn’t managed, what can occur?
polycythaemia, cerebral abscess, stroke, infective endocarditis, HF, death
Murmur in tetralogy of fallot and where to listen?
Pansystolic murmur best heard over mid or upper left sternal edge
Smaller the VSD=louder the murmur
What are tet spells?
Hypoxic spells in tetralogy of fallot with peak incidence between 2-4 months of life:
Paroxysm of hyperpnoea, irritability, increasing cyanosis
Management of tetralogy of fallot?
Medical= squatting, prostaglandin infusion, beta blockers, morphine, saline bolus
Surgical management for definitive repair or palliative management
Which defects have a higher risk of HF?
Significant left to right shunt= VSD, ASD, PDA
Transposition of the great arteries
Describe the two types of transposition of the great arteries?
dextro-transposition=aorta is anterior and to the right of the pulmonary artery
levo-TGA= aorta anterior and to the left of the pulmonary artery
When do you get cyanotic heart disease?
Absent/not wide enough tricuspid/pulmonary/aortic valve Coarctation of aorta Ebstein anomaly Tetralogy of fallot TGA Truncus arteriosus
Anywhere with a right to left shunt
What is rheumatic fever?
Systemic illness 2-4 weeks after pharyngitis due to cross reactivity to group A beta-haemolytic streptococcus (S. pyogenes)
What are the diagnostic criteria for rheumatic fever? Describe
Revised Jones diagnostic criteria= positive throat culture or anti-streptolysin O/anti-DNA B titre and 2 major or 1 major+2 minor criteria
What are the major criteria in the revised jones criteria?
SPECS
Sydenham’s chorea, polyarthritis, erythema marginatum, carditis, subcut nodules
What are the minor criteria in the revised jones criteria?
CAPE CRP/ESR raised Arthralgia Pyrexia ECG-prolonged PR
Management of acute rheumatic fever?
Antibiotics=benzathine benzylpenicillin
Aspirin/NSAIDs
Assess for emergency valve replacement
Secondary prevention with abx every 3-4 weeks
What factors lead to subacute bacterial endocariditis?
Endothelial damage, platelet adhesion, microbial adherence
What organisms cause IE?
S. aureus, S. viridans, S. pneumoniae, HACEK organisms
Presentation of IE?
persistent low grade fever, heart murmur, splenomegaly, petechiae/oslers nodes/janeway lesions/splinter haemorrhages
Criteria for diagnosis of IE? describe
Modified Dukes criteria
2 major
1 major and 3 minor
5 minor
Major criteria in modified dukes?
positive blood cultures, evidence of endocardial involvement (echo)
Minor criteria in modified dukes?
predisposition, fever, vascular phenomena, immunologic phenomena, microbiology evidence, other echo findings
Management of IE?
IV antibiotics
May require surgical intervention
What factors aid reflux in GORD?
Low tone of muscular portion of lower oesophagus, short and narrow oesophagus, delayed gastric emptying, shorter lower oesophageal sphincter, liquid diet and high calorie requirement (distends stomach), significant periods recumbent
Presentation of GORD?
Distressed, unexplained feeding difficulties, hoarseness +/- chronic cough, single episode pneumonia, faltering growth, if able may report pain
When does GORD or regurgitation (=posseting) present normally
Within 2 weeks of life
How to manage a breast fed baby with gord
Use alginate eg gaviscon mixed with water after feeds
How to manage a formula fed baby with gord
1= do not over feed (less than 150ml/kg/day) 2= decreased feed volume by increasing frequency (2-3 hourly) 3= use feed thickener 4= stop thickener and use alginate added to formula
What to use after alginate if no success in GORD?
histamine antagonists or ppi
Name 5 potential causes of poor feeding
Infection, metabolic disorders, genetic disorders, structural abnormalities, neurological disorders, mum and feeding technique
Presentation of pyloric stenosis
Baby starts bringing up small amounts of milk after feeding, which gets worse over a few days
Then projectile yellow vomit (milk curdles in stomach acid)
Reduced faeces
If untreated: dehydration and not gaining weight
When does pyloric stenosis present
About 6 weeks after birth
How to manage pyloric stenosis
Pyloromyotomy (laparoscopically)
Potential presentation of IBS
Bloating, cramping, chronic or intermittent diarrhoea/constipation, urgency with defecation, incomplete sensation of defecation, passage of mucus in stool
May have dizziness, nausea, loss of appetite
How to manage IBS
Diet and lifestyle management eg small meals, more often, low fat and high carbs
How common is gastroenteritis?
Very!
At least one episode per year for most children
Common causes of gastroenteritis
Rotavirus is most common infantile (NB rotarix oral vaccine at 8 and 12 weeks)
Norovirus commonest acorss all age groups
Campylobacter is most common bacterial cause
Also E.coli and adenovirus
Presentation of gastroenteritis
Sudden onset diarrhoea +/- vomiting, abdo pain, mild fever
bloody diarrhoea if campylobacter- generally due to undercooked meat and unpasteurised milk
Management of gastroenteritis
Self limiting
Send a stool sample if ?septicaemia/blood or mucus in stool/immunocompromised
Encourage fluids (not carbonated drinks)
IV or oral therapy if dehydrated
Give full strength milk asap
Leave it 48 hours before returning to school
How long do sxs of gastroenteritis last?
Diarrhoea around 5-7 days
Vomiting around 1-2 days
Potential complications of gastroenteritis?
Haemolytic uraemic syndrome, reactive complications eg Reiter’s syndrome, toxic megacolon, acquired/secondary lactose intolerance
What counts as constipation in children?
Less than 3 complete stools/week
Hard/large stool
Rabbit droppings
Overflow soiling in children over 1
Management of simple constipation in children?
Diet and lifestyle advice- high fibre, increase fluids
Then add Macrogol eg Movicol
Then add stimulant laxative eg Senna
Consider adding in lactulose
In secondary care can do manual evacuation, antegrade colonic enema, polyethylene glycol solutions
Describe the pathophysiology of appendicitis
Luminal obstruction (faecolith or lymphoid hyperplasia, impacted stool) Decreased venous drainage and localised inflammation by commensal bacteria causes and increased pressure. This causes ischaemia which can lead to necrosis and perforation
Presentation of appendicitis
Dull peri-umbilical pain transfers to a sharp right iliac fossa pain
May have vomiting, anorexia, nausea, diarrhoea or constipation
MAGNET: migration of pain to RIF, anorexia, guarding, nausea, elevated temp, tenderness in RIF
What can be found on examination of appendicitis
Rebound tenderness and percussion pain over McBurneys point and guarding Psoas sign (pain when patient lies on left side while right thigh is flexed backward) Rovsing's sign (pain in RLQ upon palpation of LLQ)
Management of acute appendicitis
Antibiotics and laparoscopic appendicectomy
Why are children at higher risk of appendix perforation?
Tend to have delayed presentation
Two types of childhood hernia?
Umbilical and epigastric
How to manage hernias in children?
Umbilical- surgery if still present after 3 years
Epigastric- surgery only if uncomfortable or a nuisance
Describe how Crohn’s disease affects the body (microbiology and location)
Remitting and relapsing disease, affects anywhere between the mouth and the anus
Transmural inflammation, deep ulcers and fissures with cobblestone mucosa, skip lesions
Non-caseating granulomatous inflammation
Presentation of Crohns disease
Abdominal pain and bloody/mucus containing diarrhoea
Oral aphthous ulcers, perianal disease (tags, fistulae)
Extra-intestinal features=MSK, eyes, skin, renal, hepatobiliary
Investigations for IBD?
Faecal calprotectin, routine bloods, stool microscopy and culture, colonoscopy with biopsy (=definitive diagnosis and can distinguish between UC and CD)
How to manage Crohn’s disease? Acute attack
In acute attack: avoid anti-motility drugs eg loperamide as it can cause toxic megacolon
In acute attack: fluid resus, nutritional support, prophylactic heparin, corticosteroid and immunosuppressant eg mesalazine or azathioprine
How to manage Crohn’s disease? Maintenance
Azathioprine, smoking cessation
Surgery can be used- ileocaecal resection, stricturoplasty, small/large bowel resections
Course and pathophysiology of ulcerative colitis?
Relapsing/remitting
Diffuse continual mucosal inflammation of large bowel only. Begins in the rectum and spreads proximally.
Mucosal and submucosal inflammation only, crypt abscesses and goblet cell hypoplasia
What is a protective factor against UC?
Smoking!
Presentation of UC?
Bloody diarrhoea, PR bleeding and mucus discharge, increased faecal frequency, urgency and tenesmus
Extra-intestinal: MSK, skin, eyes, hepatobiliary
How to induce remission in UC?
Corticosteroid and immunosuppressant eg mesalazine or azathioprine
Maintenance management of UC?
Immunomodulators- mesalazine or sulfasalazine
Next line=infliximab
Surgery= ileostomy and complete resection= curative, but many have sub-total colectomy to begin with
Pathophysiology of Coeliac disease
T cell mediated autoimmune response.
Response to gliadin and genetic (HLA-DQ2/DQ8)
Anti-gluten CD4 t cell response, with anti-gluten antibodies, anti-tissue transglutaminase, endomysin antibodies and intraepithelial lymphocytes activated
Causes epithelial cell destruction and villous atrophy
What are the forms of coeliac disease?
Classical, atypical, latent, silent, potential
Describe the classical form of coeliac disease
Arises between 9 and 24 months
Crypt hyperplasia and villous atrophy
Features of malabsorption eg steatorrhoea, failure to thrive, anorexia
Describe the atypical form of coeliac disease?
No intestinal symptoms
Extra-intestinal symptoms eg osteoporosis, anaemia, peripheral neuropathy
Describe the latent form of coeliac disease
HLA DQ2/8 positive but normal mucosa present
Describe the silent form of coeliac disease
Damaged mucosa, positive serology, no symptoms
What is potential coeliac disease
Genetically predisposed people
What are potential extra-intestinal features of coeliac disease?
Dermatitis herpetiformis, osteoporosis, short, delayed puberty, arthritis
How to investigate for coeliac disease?
Serology
Must have had gluten in diet for at least 6 weeks prior to testing
IgA and IgAtTG, IgAEMA
Duodenal biopsy
Common causes of failure to thrive
Down syndrome, cerebral palsy, heart disease, infections, milk allergy, CF, coeliac disease, GORD
What is marasmus
Protein and energy malnutrition.
Loss of fat mass especially buttocks
Chronic diarrhoea and emaciated body type
There is NO oedema
What is marasmus usually a sign of?
Poor socioeconomic status, child abuse+neglect, lack of food resources
How to manage marasmus?
Similarly to kwashiorkor and reintroduce food slowly and correct any electrolyte imbalances
What is kwashiorkor
Inadequate protein with a reasonable calorie intake
Presentation of kwashiorkor
Fatigue, irritability, lethargy, failure to thrive, loss of muscle mass, generalised oedema, pot belly, fatty liver, prone to infections, hair and skin changes (erythematous, exfoliation, pigment, dry hair, thin nails)
What is seen in bloods for kwashiorkor?
low glucose, low protein, high cortisol and GH, low salt, iron deficiency anaemia, metabolic acidosis
Management of kwashiorkor?
Correct fluids/electrolytes- needs to be done in about 48 hours
Reintroduce foods slowly afterwards using RUTF (ready to use therapeutic foods eg peanut butter, milk powder, sugar, vegetable oil, minerals and vitamins)
Treatment takes around 2-6 weeks
Pathophysiology of Hirschprung’s disease
Congenital aganglionic megacolon disease Aganglionic segment (short/long/total) remains in tonic state so there is a failure in peristalsis Functional obstruction due to accumulated faeces
Presentation of Hirschprung’s disease
Abdominal distension, bilious vomiting, failure to pass meconium within 48 hours after birth
Males 4 times more likely
What is a big complication of Hirschprung’s disease
Hirschprung’s enterocolitis: stasis allows bacterial proliferation, which can cause sepsis and death
How to investigate for Hirschprungs
Initially a plain X ray
Gold standard=rectal suction biopsy
Management of Hirschprungs
IV antibiotics, NG tube, bowel decompression initially
Definitive= surgery to resect aganglionic section and connect unaffected bowel to dentate line
What is intussusception?
Who does it happen to?
Movement/telescoping of one part of bowel into another
Peak at 5-7 months, rare after 2 years, males twice as likely
Most cases are ileo-colic type (distal ileum passes into caecum through ileo-caecal valve)
Presentation of intussusception
Sudden onset, inconsolable crying episodes, pallor, child may draw knees up to chest
Later stages= red-currant consistency stools (blood and mucus), sausage shaped mass in RUQ
How to diagnose intussusception?
abdominal uss
How to manage intussusception?
Nonoperative=air or contrast enema
Surgical reduction if contraindication to enema
What is meckel diverticulum?
Outpouching of lower part of small intestine- a remnant of umbilical cord
Presentation of meckel diverticulum?
Most asx
In minority: pouch releases acid causing bleeding ulcers
In serious complications, can lead to peritonitis
Pouch can twist causing volvulus or intussusception
What is malrotation with volvulus?
Occurs during embryonic development at about the 10th week
Bowel twists so blood supply is cut off
Presentation of malrotation with volvulus?
Bouts of crying, pull legs into body, not passing faeces, cramps, green vomit, may become dehydrated
Most diagnosed by age of 1
How to manage malrotation with volvulus
Dx by Xray
Tx= operation- stop necrosis of bowel and may need bowel resection
What is toddler diarrhoea
Chronic nonspecific diarrhoea, at least 3 loose watery stools/day
Some alternate with constipation
Self limiting at about age 5-6
NOT due to malabsorption or serious bowel problem
What are the 4Fs for diet consideration in toddler diarrhoea
Fat, fluid, fruit juices and fibre
What is colic
Self-limiting repeated episodes of excessive and inconsolable crying for at least 3hrs a day, at least 3 days a week for at least 1 week
Occurs in up to 4 months of age
Presentation of colic
Often crying in late afternoon or evening, draws knees up and arches back
Management of colic?
REASSURANCE
Soothing strategies, parental wellbeing aids
Discourage simeticone (infracol) or lactase drops, probiotics, herbal supplements and maternal diet modification
Exclude other possible causes of distress
Describe the three types of biliary atresia
Type I= common bile duct atresia with patent proximal ducts
Type II= common hepatic duct atresia with cystic structures in porta hepatis
Type III= R and L hepatic duct atresia to level of porta hepatis (most common)
What is biliary atresia?
Extrahepatic bile ducts obliterated by inflammation and subsequent fibrosis
Presentation of biliary atresia?
Presentation shortly after birth
Persistent jaundice
Pale stools and dark urine in term infants with normal birth weights
What investigations are required in biliary atresia and what results shown?
LFTs: increased GGT, TGs normal
USS
Liver histology from percutaneous biopsy
Management of biliary atresia?
Surgery, liver transplant needed before 8 weeks
Prognosis without treatment is 18 months
Complications of biliary atresia?
Ascending cholangitis, cirrhosis, portal hypertension, liver failure, hepatocellular carcinoma
Pathophysiology of cow’s milk protein allergy
Immune-mediated allergic response to casein and whey
IgE mediated type 1 hypersensitivity or non-IgE(T cell activation)
Presentation of cow’s milk protein allergy
Acute and rapid onset (less than 2 hrs after ingestion), pruritus, erythema, acute urticaria, angio-oedema, oral pruritus, colicky abdo pain, vomiting, diarrhoea, may have resp signs
Management of cow’s milk protein allergy
Elimination diet for at least 6 months or until 9-12 months old, then reevaluate every 6-12 months
Replace formula with hypoallergenic: extensively hydrolysed or amino acid formula
What is wilson’s disease?
Autosomal recessive disorder of hepatic copper deposition
Mutations in gene ATP7B
Typical onset in 2nd-3rd decade
Presentation of wilson’s disease
HEPATIC features: acute liver failure, chronic hepatitis and cirrhosis, fulminant hepatic failure+/- haemolytic anaemia
PSYCH features: severe depression, neuroses
NEURO features: asymmetrical tremor, speaking difficulty, hypersalivation, clumsiness with hands
Kayser-fleischer rings, sunflower cataracts
May be a/w rheumatoid-osteopenia, cardiac arrhythmias, hypoparathyroidism, pamcreatitis, infertility
What investigations for wilson’s disease
Low serum caeruloplasmin
Increased urinary copper
Liver biopsy
Assay
Management of wilson’s disease
Avoid high copper food, penicillamine or zinc/trientine (chelating agents), may need liver transplant
Choledochal cysts pathophysiology?
Usually in extrahepatic ducts (CBD and HDs), sometimes in intrahepatic ducts
Type I cysts are most common-lower end of CBD joins up with pancreatic duct: pancreatic juice and bile mix leading to a weakening of bile duct wall and ballooning- can lead to pancreatitis and cholangitis
Management of choledochal cyst
USS to identify
Commonly incidental finding
Surgery for removal of cyst
Presentation of choledochal cyst
May have jaundice, intermittent abdo pain, cholangitis, peritonitis, lump, pancreatitis
Aetiology of neonatal hepatitis syndrome
in 20%- viral (cytomegalovirus, rubella, hep a/b/c)
80%- nonspecific virus
Presentation of neonatal hepatitis syndrome
Usually at 1-2 months
Jaundice, not gaining wt/ht, hepatosplenomegaly
Management of neonatal hepatitis syndrome
Ix: liver biopsy and bloods
Mx: none specific, may need vitamins, potentially a liver transplant
Presentation of liver failure in children
Increased AST and ALT with prolonged clotting +/- jaundice +/- encephalopathy
Causes of liver failure
Viruses eg HSV, EBV, CMV, Hep A/B/E
Inherited metabolic disorders eg Wilsons, mitochondrial
Toxins
Medication eg erythromycin
Autoimmune
Low blood flow eg HF
Chronic: hep C, autoimmune, haemochromatitis, alpha 1 antitrypsin deficiency, CF, biliary atresia, sclerosing cholangitis
Common causes of UTI in children
E coli, Klebsiella, S. saprolyticus
Nb/ pseudomonas suggests structural abnormality
Management of UTI in children
In under 3 months: IV cefuroxime for 7 days and USS renal tract
In over 3 months: oral abx for 3/7 (trimethoprim, nitrofurantoin, cephalosporin, amoxicillin)
If pyelonephritis: 7-10 days abx, ciprofloxacin or co-amoxiclav
Presentation of pyelonephritis
At least 38 degrees and bacteriuria
or
Less than 38 degrees and loin pain/tenderness and bacteriuria
When would you expect children to be dry overnight
Age 5
Factors contributing to nocturnal enuresis
Small bladder, inability to recognise full bladder, hormones, UTI, sleep apnoea, diabetes, chronic constipation, structural problem in urinary tract or nervous system
Management of nocturnal enuresis
<5= reassurance and advice
Non drug treatment: fluid intake, diet, toilet behaviour, rewards system then enuresis alarm if not responding (still more than 1-2 bed wets in a week)
Drug= desmopressin if over 5 +/- enuresis alarm
Imipramine hydrochloride is last line
Causes of acute renal failure
Hypoperfusion (blood loss, surgery, shock)
Blockage of urinary tract
Nephrotoxic drugs
Haemolytic uraemic syndrome (e.coli usually)
Glomerulonephritis
Symptoms of acute renal failure
Haemorrhage, fever, rash, bloody diarrhoea, vomiting, anuria or polyuria, pallor, oedema, eye inflammation, stomach mass
Treatment of acute renal failure?
Treat underlying cause U+Es Dietary changes Antihypertensives Iv fluids Diuretics
How long for it to be classed as chronic renal failure?
Potential causes?
Over 3 months
Causes: long term blockage, alport syndrome, nephrotic syndrome, PKD, cystinosis, chronic conditions eg diabetes, untreated acute kidney disease
What is alport syndrome
Inherited condition- X-linked most common, but can be autosomal recessive/dominant
Deafness, renal damage and eye defects
Treatment of chronic renal failure
Diuretics
Dialysis and transplant
Diet changes (limit protein, potassium, phosphorus, sodium)
Growth promoters/bisphosphonates/iron tablets
What defines nephrotic syndrome
Generalised oedema, heavy proteinuria (>200mg/mmol) and hypoalbuminaemia (<25g/L)
(Flattened podocytes allow protein leakage)
(Normal protein less than 20mg/mmol, normal albumin 35-45g/L)
Causes of nephrotic syndrome
Which is most common?
Minimal change disease=most common
Others= congenital nephrotic syndromes, focal segmental glomerulosclerosis, mesangiocapillary glomerulonephritis
Management of nephrotic syndrome
High dose steroids- most respond well but some will have relapse (=steroid-resistant nephrotic syndrome)- in which case may need maintenance low dose steroids or immunomodulatory drugs eg cyclophosphamide
Low salt diet, prophylactic abx (as they leak Igs and steroids!), immunisations
Prednisolone for first episode 60mg/m2 for 4-6 weeks then wean down
What is minimal change disease
Microscopically damage not evident. Idiopathic
Develop nephrotic syndrome more quickly but much more responsive to treatment
What is congenital nephrotic syndrome
What is needed in management
Genetic condition (parents need 1 faulty and 1 healthy gene each to pass on)
Requires frequent albumin infusions to aid growth and development
Typically leads to renal failure
Causes of nephritic syndrome
Post-streptococcal glomerulonephritis, henoch schnolein purpura, alport syndrome, sle/lupus nephritis
Describe post-strep glomerulonephritis
10-14 days after skin/throat infection with group A strep
Haematuria, oedema, decreased urine output, htn, proteinuria, tired
Normally self limiting so needs supportive tx only
If strep infection persisting= penicillin
What is henoch schnolein purpura
IgA vasculitis
Rash of raised red or purple spots usually on legs and bottom (extensor surfaces)
Px of henoch schonlein purpura
Rash, arthritis, abdo pain, kidney impairment (self limiting and mild usually), may get PR bleeding and intussusception
Usually all preceded by 2-3 weeks of fever, headache, arthralgia/myalgia, abdo pain
Mx of Alport syndrome
ACEi/ARB, diuretics, limit sodium
Monitor for potential renal failure
Mx of Lupus nephritis
Immunosuppressants eg cyclophosphamide or hydroxychloroquine, antihypertensives, may need steroids
Types of hypospadias
When does it form
Subcoronal (near head of penis)
Midshaft
Penoscrotal (where penis and scrotum meet)
Weeks 8-14 of pregnancy
Management of hypospadias
Surgery between 3 and 18 months, may need to be done in stages
Types of renal malformation?
Autosomal recessive polycystic kidney disease
Duplication (single renal unit with more than one collecting system)
Fusion (kidneys joined, but ureters enter bladder on each side)- most common= horseshoe
Malrotation (little clinical significance)
Multicystic dysplastic kidney (nonfunctioning renal unit but contralateral kidney normally fine)
Renal agenesis (bilat=fatal, unilateral)
Renal ectopia=kidney fails to ascend from true pelvis
Renal hypoplasia (underdeveloped)
Pathophysiology of vescioureteral reflux
Urine flows from bladder back into ureters, potentially causing infection
Shorter than normal attachment between ureter and bladder and incompetent valve
Describe the different grades of vesicoureteral reflux
I=into ureter
II=into ureter and renal pelvis without distension
III=into ureter and renal pelvis with mild swelling
IV= mod swelling
V=severe swelling and twisting or ureter
Management of vesicoureteral reflux
Can go away by itself (junction gets longer with age)
Encourage frequent voiding
May need surgery to stop reflux
Triad of haemolytic uraemic syndrome
Coombs test negative, thrombocytopenia, AKI
Typically a/w e.coli
What is haemolytic uraemic syndrome
Toxins bind from e.coli causing thrombin and fibrin to be deposited in microvasculature
RBCs damaged while passing through occluded small vessels causing haemolysis
Px haemolytic uraemic syndrome
Profuse diarrhoea turning bloody 1-3 days later, fever, abdo pain and vomiting
Mx of HUS
Supportive- fluid and electrolyte mx, dialysis PRN, antihypertensive, keep circulating volume up
Where abouts are babies usually affected with atopic dermatitis?
Face, neck, scalp, elbow and knees
Where abouts are children usually affected with atopic dermatitis?
Inside elbows, back of knees, sides of neck, around mouth, wrists, ankles and hands
General management of eczema?
Avoid triggers, keep nails short, emollients
Rest of treatment depends on severity: may include corticosteroids, abx, antihistamines, calcineurin inhibitors, phototherapy, immunomodulators or biologic medications
What steroid would you give for mild eczema?
Hydrocortisone 1%
What steroid for moderate eczema?
Betamethasone valerate 0.025% or clobetasone butyrate 0.05%
What steroid for severe eczema?
Betamethasone valerate 0.1%
May need maintenance steroids or topical calcineurin inhibitors eg tacrolimus
What is Stevens-Johnson syndrome?
Toxic epidermal necrolysis. Rare, acute and potentially fatal skin reaction with sheet-like skin and mucosal loss
Nearly always caused by medications
What medications commonly cause Stevens-Johnson syndrome
Cotrimoxazole, penicillin, cephalosporins, anti-convulsants, allopurinol, paracetamol, NSAIDs
Usually within the first week of abx therapy
Presentation of Stevens-Johnson syndrome
Initially a flu-like illness
Then, tender/painful red skin rash on trunk. extending to face and limbs over a course of hours-days
(Skin lesions: macules/diffuse erythema/targetoid/blisters)
The blisters merge to form sheets of skin detachment
At least 2 mucosal surfaces affected eg conjunctivitis/mouth ulcers/cough/diarrhoea
Acute phase lasts 8-12 days
Management of Stevens Johnson syndrome
Skin biopsy shows keratinocyte necrosis
SCORTEN illness severity score to predict mortality
Cessation of suspected causative drug, admission, analgesia, temp maintenance, nutrition and fluids
General care of affected mucosal surfaces
Classification of allergic rhinitis?
Seasonal (if due to grass and tree pollens=hay fever)
Perennial (throughout year, due to dust mites and animal dander)
Intermittent (less than 4 days/week or less than 4 consecutive weeks)
Persistent (more than 4 days/week or more than 4 consecutive weeks)
Occupational
Management allergic rhinitis? Mild-mod
Nasal irrigation with saline
Allergen avoidance
PRN antihistamine- intranasal as first line eg azelastine
Can use 2nd generation non sedating oral eg loratidine or cetirizine for mild-mod symptoms
What can be used in mod-severe allergic rhinitis?
Intranasal corticosteroid during periods of allergen exposure eg mometasone fluroate or fluticasone propionate
For hayfever, what pollens affect you when?
Tree=early-late spring
Grass=late spring-early summer
Weed=early spring-late autumn
What causes urticaria?
Histamine release
Due to: allergens, bee and wasp stings, autoimmune/idiopathic (chronic), physical triggers eg cold/friction, medications
Types of antihistamine
Non sedating, sedating, short and long acting=H1 antihistamine
H2 antihistamines
What is angio-oedema?
Swelling deep to the skin, commonly soft areas of skin eg eyelids and lips, more painful than weals/hives and takes longer to clear.
Presentation of anaphylaxis
Skin features-urticaria, erythema, flushing, angio-oedema
Involves at least 1 of Resp/CV/GI system
How to manage anaphylaxis
ABCDE, high flow oxygen, IM adrenaline, repeat 3-5 mins if required, treat a drop in BP with fluid bolus, consider salbutamol if wheeze, antihistamines for itch(cetirizine)
Prescribe an epipen
What are the most common vascular birth marks?
Macular stains or salmon patches: Angel’s kisses (forehead/nose/upper lip/eyelids- disappear with age) or Stork Bites (back of neck, disappear with age)
Hemangioma (grow rapidly 6-9 months then shrink and lose red colour)
Port-wine stain/nervus flammeus (grows with the child, often face/arms/legs, flat pink/red/purple mark)
What are the most common pigmented birth marks?
Moles/congenital naevi, cafe au lait spots, mongolian spots (blue-grey spots on lower back or buttocks, common on darker skin)
Causes of infectious rash in children
Meningococcal, steven-johnsons syndrome, impetigo, kawasaki, staphylococcal scalded skin syndrome, eczema herpeticum, erythema nodosum, erythema multiforme, measles, glandular fever, hand foot and mouth disease, erythema infectiosum, chicken pox, nappy rash, scabies, tinea corporis, tinea capitis, mollusucm contagiosum
What are the three phases in Kawasaki disease?
Acute phase=weeks 1-2
Subacute phase= weeks 2-4
Convalescent phase=weeks 4-6
Presentation of kawaski disease in acute phase?
Fever for at least 5 days (over 38), rash, red or hard fingers or toes, hand/foot swelling, conjunctival infection, dry/cracked lips, strawberry tongue, swollen lymph nodes
What happens in subacute phase of kawasaki disease?
Symptoms less severe. Fever subsides, may have diarrhoea, vomiting, abdo pain, pyuria, lethargy, headache, malaise, jaundice and peeling skin
What happens in the convalescent phase of kawasaki disease?
Begin to recover, symptoms start to go away, residual lethargy.
Pathophysiology of kawasaki disease?
Idiopathic. Not contagious.
Also known as mucocutaneous lymph node syndrome.
Mainly affects under 5s.
What are NICE criteria for diagnosis of kawasaki?
Over 38 degrees for at least 5 days and at least 4 key symptoms:
Bilateral conjunctival infection, mouth/throat changes, hand and feet changes, rash, swollen glands
How to manage kawasaki disease?
High dose aspirin initially then move onto low dose
IVIg-Gamma globulin (after which symptoms will improve after 36 hours)
If IVIg failure, consider steroids
What should you be aware of when giving children aspirin?
Reyes syndrome: persistent vomiting, lethargy, liver and brain damage
Presentation of measles
Initially coryzal sxs, fever, small grey-white spots in mouth (Koplik spots) lasting a few days
2-4 days later= maculopapular rash on head/neck and spreads to rest of body
Management of measles
Self limiting viral illness and usually clears in about 7-10 days
Mx: stay at home for at least 4 days from when rash first appears, antipyretic, fluids, gently clear crust from eyes, hot steam
PREVENTION: MMR vaccination at 12-13 months and 3 years 4 months
What are some complications of measles?
Common= dehydration, otitis media, conjunctivitis, laryngitis, airway infections, febrile seizures Uncommon= hepatitis, squint, meningitis encephalitis Rare= optic neuritis, heart and nerve problems, subacute sclerosing panencephalitis several years after
What causes chicken pox?
Varicella zoster virus- commonly before age 10
Presentation of chicken pox?
Fever aches and headache for about a day before the rash: spots in crops become small itchy blisters and then scab over
May lose appetite and have feeding problems
Management of chickenpox?
AVOID aspirin (reye's syndrome) Antipyretic, emollient, sedating antihistamine at night, keep nails short, dress comfortably, fluids Stay off school until all blisters crusted over
If an at risk group eg under 1 month, immunocompromised, severe heart/lung disease=aciclovir or vaccination
When are you infectious with chickenpox?
7-21 day incubation
Infectious from 2 days before spots appear until all blisters crusted over
What type of infection is rubella? When is peak incidence?
Viral. Mainly in spring and early summer
Presentation of rubella?
Prodromal phase: low grade fever, headache, mild conjunctivitis, anorexia, rhinorrhoea
Rash occurs 14-17 days after exposure: pink discrete macules that coalesce behind ears and on face, spreads to trunk then extremities
Lymphadenopathy-cervical, suboccipital, post auricular
Management of rubella?
PCR is gold standard diagnosis
Keep out of school for 4 days after rash appears, antipyretics, ask re contact with pregnant women
PREVENTION: MMR vaccination at 12-13 months and 3 years 4 months
What causes diphtheria?
Gram positive aerobic bacillus Corynebacterium diphtheriae causing acute upper resp tract infection
Presentation of diphtheria?
Early sxs=coryzal
Nasal discharge- watery then purulent and bloody
Membranous pharyngitis with fever, enlarged cervical LNs, oedema of soft tissues= bull neck appearance
Cutaneous infection: pustules rupture causing punched out ulcers often on lower legs, feet and hands, with surrounding oedematous pink/purple skin. Takes 2-3 months to heal leaving a depressed scar
May cause difficulty swallowing, paralysis and HF
Management of diphtheria?
PREVENTION: 6-in-1 vaccination at 2, 3 and 4 months
Antibiotics (eyrtho/azithro/clarithro/penicillin), reinforcing vaccine dose, manage contacts with abx prophylaxis
Booster vaccinations: first between 3.5 and 5 years, second between 13-18
Pathophysiology of scalded skin syndrome?
Staphylococcal disease. Also known as Ritter disease and Lyell disease
Affects under 5s, especially neonates normally
Exotoxins from S. aureus bind to desmosomes, causing skin cells to become unstuck- causes red blistering skin
Presentation of scalded skin syndrome?
Fever irritability and widespread erythema, then 24-48 hours later=fluid filled blisters form and rupture easily
Nikolsky sign positive= gentle strokes causes exfoliation
Investigations for scalded skin syndrome?
Tzanck smear, skin biopsy, bacterial culture
Management of scalded skin syndrome?
Admit to hospital
IV antibiotics eg flucloxacillin
Supportive -antipyretic, fluids, petroleum jelly
Healing usually complete within 5-7 days of starting treatment
Pathophysiology of whooping cough?
Bordetella pertussis bacterial infection
Gram negative bacillus. Toxins paralyse cilia and promote inflammation
Describe the first phase of whooping cough?
1st phase=catarrhal phase for 1-2 weeks
Coryzal sxs: rhinitis, conjunctivitis, irritability, sore throat, low grade fever, dry cough
Describe the second phase of whooping cough?
2nd phase=paroxysmal for 2-8 weeks
Severe paroxysms of coughing followed by inspiratory gasp (whoop)
NB/ in infants under 3 months the whoop is less common and apnoea is more common. Paroxysms more common at night and often followed by vomiting
Describe the third phase of whooping cough?
Convalescent phase=up to 3 months
Investigations for whooping cough?
If cough for less than 2 weeks: nasopharyngeal aspiratr
If cough for more than 2 weeks: anti pertussis toxin IgG serology in under 5s or toxin detection in oral fluid for 5-17year olds
FBC=lymphocytosis
Management of whooping cough?
Hospital if under 6 months and acutely unwell, sig breathing difficulties, feeding difficulties, complications eg pneumonia
Macrolide antibiotic if cough for less than 21 days= clarithromycin (under 1 month), azithromycin otherwise
Supportive
NB/ abx don’t alter course once disease established
PREVENTION= vaccination at 2,3,4 months and booster at 3 years 4 months
Presentation of polio?
Fever, tiredness, headache, vomiting, neck stiffness and arm/leg pain
In 1 in 200 cases, affects NS leading to temporary or permanent paralysis
Management of polio?
No treatment; need physio and OT
PREVENTION= vaccination at 2,3,4 months, 3years 4 months and 13-18 years
How to diagnose TB in children?
Mantoux test= positive tuberculin skin test
IGRA
CXR
History of contact
Lab cultures very difficult to do in kids
TB drugs?
RIPE
Rifampicin, isoniazid, pyrazinamide, ethambutol
Who gets BCG vaccination?
If born in areas of UK where rates are high
If a parent/grandparent born in a country with high TB rates
Causes of meningitis in children?
Bacterial: Mainly N. meningitidis and S. pneumoniae
In neonates= GBS (group B strep from mum’s vagina)
Viral: HSV, enterovirus and VZV
What is the presentation of meningitis in neonates and babies?
Non-specific!
Eg Hypotonia, poor feeding, lethargy, hypothermia, bulging fontanelle
How to investigate for meningitis?
Kernigs and brudzinski’s signs
LP if under 1 month and fever, 1-3 months fever and unwell, under 1 year with unexplained fever and other features of serious illness
Management of meningitis?
Primary care: benzylpenicillin
Secondary care bacterial:
If under 3 months: cefotaxime and amoxicillin (to cover listeria)
Over 3 months=ceftriaxone
Dexamethasone QDS for 4/7 if LP suggestive bacterial meningitis
PEP for contacts: ciprofloxacin
Viral=aciclovir
What CSF findings are suggestive of bacterial meningitis?
Cloudy, high protein, low glucose, high neutrophils, cultured for bacteria
What CSF findings are suggestive of viral menigitis?
Clear, normal protein, normal glucose, lymphocytosis, negative culture
Causes of encephalitis?
Most common=HSV 1(children) and HSV 2(neonates- from genital warts)
Others= VZV, CMV, EBV, enterovirus, adenovirus, influenza virus
Presentation of encephalitis?
Altered consciousness, altered cognition, unusual behaviour, acute onset focal seizures and focal neurological symptoms, fever
Management of suspected encephalitis?
Ix: LP (CSF and PCR) or CT if LP CI. MRI after LP, swabs, HIV testing
Mx: aciclovir for HSV/VZV or ganciclovir (CMV)
Repeat LP to ensure successful tx
How does HSV1 affect children?
Infectious for 7-12 days
Commonly gingivostomatitis: fever, restless, dribbling, swollen gums which bleed easily, foul breath, ulcers on tongue/throat/palate/inside cheeks, enlarged LNs
Management of HSV?
Can use antivirals eg aciclovir/valaciclovir but for mild/uncomplicated eruptions require no treatment
What is slapped cheek syndrome caused by?
Also known as fifth disease/erythema infectiosum
Parvovirus B19
When are the peak incidences for slapped cheek syndrome?
april and may
Presentation of slapped cheek syndrome?
Commonly 3-15 years old
Rash=bright red scald-like on 1 or both cheeks, painless
May have mild coryzal symptoms
1 in 4 will be asx
By time rash develops, no longer infectious
Management of slapped cheek syndrome?
None needed. Caution around pregnant women
Types of impetigo and what caused by?
Non-bullous (about 70% cases)= S.aureus, S.pyogenes or both
Bullous= S.aureus
Presentation of impetigo?
Non-bullous= golden/brown crusts from vesicles/pustules, commonly on face, limbs and flexures, may be mildly itchy
Bullous-more common in infants= blisters rupture leaving flat yellow/brown crust, may have systemic features
Management of impetigo?
Good hygiene, stay away from school until healed or 48 hours after abx
Localised non-bullous=hydrogen peroxide 1% cream (2nd line=fusidic acid 2%)
Widespread non-bullous or bullous=oral flucloxacillin
How to manage candida?
topical antifungal eg miconazole gel
If vaginal (v. uncommon before puberty)= fluconazole
Causes of toxic shock syndrome?
Staph or strep- from female barrier contraceptives, tampons, injury on skin, childbirth, nasal packing, ongoing staph or strep infection
Presentation of toxic shock syndrome?
Fever, flu-like sxs, N+V, diarrhoea, widespread sunburn like rash. lips/tongue/whites of eye turning bright red, dizziness and syncope, dyspnoea, confusion
Management of toxic shock syndrome?
Antibiotics and fluids
What causes scarlet fever?
Group A strep- affects people with recent strep throat or impetigo. Children over 3 at risk
Symptoms of scarlet fever?
Sudden fever a/w sore throat, lymphadenopathy, headache, N+V, loss of appetite, swollen and red strawberry tongue, abdo pain, malaise
12-48 hours after fever=rash: starts below ears/neck/chest/armpit/groin)- scarlet blotches (boiled lobster appearance). Then looks like sunburn with goose pimples, pastia lines (red streaks from ruptured capillaries)
Management of scarlet fever?
Penicillin
Mostly follows benign course
What is Coxsackie’s disease?
Hand foot and mouth disease, generally affects under 10s.
Group A coxsackie virus- faecal-oral transmission
Presentation of coxsackie’s disease?
Prodromal phase then tender oral ulcerative lesions and maculopapular lesions on hands and feet
Management of coxsackie’s disease?
Supportive mx-fluids, soft diet, antipyretic analgesics, don’t need to isolate the child
Symptoms improve within 3-6 days with full resolution within 7-10 days
Red flags for primary immunodeficiency in kids?
faltering growth, need IV abx for infections, FH, at least 4 infections a year, at least 2 sinus infections a year, at least 2 pneumonias in past 3 years, frequent deep tissue abscesses, persistent fungal infections (over 6 months), at least 2 deep seated infections over 3 years, at least 2 months on at least 2 abx with little effect
What makes you think about developmental delay in children?
Global delay= sig delays in at least 2 areas: motor function, speech, language, cognitive, play, social skills
Generally only noticeable once at school age
Potential causes of developmental delay?
Genetic/hereditary eg Down syndrome Metabolic eg PKU Trauma eg shaken baby syndrome Psychosocial eg PTSD Toxic eg prenatal alcohol exposure or lead poisoning Deprivation of food or environment Infections May be idiopathic
What are febrile convulsions?
Commonly in 6months-3 years, when a child has a fever.
Usually benign
NB/ 1 in 3 will have another seizure during subsequent infection
Px of febrile convulsion?
Last less than 5 mins, child becomes stiff, then limbs twitch, lose consciousness and may wet/soil themselves
May be sick, foam at mouth and eyes may roll back
Sleepy for up to an hour after event
What warrants a complex febrile seizure?
Lasting over 15 mins, may only affect one side of body
Types of epilepsy in childhood?
Absence seizures
Childhood epilepsy syndrome (‘benign’ if can predict from EEG that will stop by certain age)
Infantile spasms=West syndrome
Bects: Rolandic epilepsy (benign epilepsy with centro-temporal spikes)
Juvenile myoclonic epilepsy
What warrants a floppy infant?
Hypotonia, weakness, ligamentous laxity, increased range of joint mobility
What features suggest central hypotonia/UMN in children?
Normal strength, dysmorphic features, normal/brisk tendon reflexes, irritability +/- loud cry, history suggestive of HIE (hypoxic-ischaemic encephalopathy)/birth trauma/sxs hypoglycaemia,seizures
Central=2/3 cases, commonly HIE
What are indicators of peripheral hypotonia/LMN in children?
Decreased strength, reduced/absent reflexes, fasciculation, myopathic face, weak cry
Causes of floppy infant?
Central hypotonia=acute encephalopathies (HIE, hypoglycaemia, intracranial haemorrhage), chronic encephalopathies (cerebral malformations, metabolism errors, chromosomal disorders, endocrine disorders, metabolic disorders), connective tissue disorders (Ehler-Dahlos, OI)
Peripheral hypotonia= spinal cord (syringomyelia), anterior horn cell (spinal muscular atrophy), NMJ (MG), muscular disorders (dystrophies, myopathies), peripheral nerves, metabolic myopathies
What is cerebral palsy?
Non progressive interference/lesion/abnormality leading to a disorder of movement and/or posture and of motor function
Damage to immature brain (most between 24 weeks and term)
Classification of cerebral palsy?
Spastic, athetoid (hyperkinesia, ‘stormy movement’), ataxic, mixed
Presentation of cerebral palsy?
Motor features- mono/hemi/para/quadriplegia
Don’t meet developmental milestones eg not sitting by 8 months, not walking by 18 months, early hand preference before 1 year
GORD, epilepsy, vomiting, constipation, bladder issues, drooling, orthopaedic problems all common
How to diagnose cerebral palsy?
Definitive dx may not come until 12-18 months
Clinical observation and parental observation
Fits, faints and funny turns causes?
In sleep: benign neonatal sleep myoclonus and parasomnias
On feeding: GORD and sandifer syndrome
Fever: febrile seziures, vaso-vagal syncope
Pain/shock/startle: reflex asystolic syncope, cyanotic breath holding, hyperekplexia
Tired/bored/stress: self gratification behaviour, tics, daydreaming
Excitement: shuddering spells, cataplexy
Potential childhood motor disease?
Tourette syndrome and tics, tremor, dystonia, ataxia, restless legs syndrome, myoclonus, juvenile huntington disease
DSM-V criteria for ADHD
Symptoms must be present before age 12, and present in at least 2 settings, affect functioning.
At least 6 symptoms of inattention for at least 6 months
or
At least 6 symptoms of hyperactivity for at least 6 months
Non drug management of ADHD
parent education and training
CBT can be offered
Meds not advised for pre-school children
Advice: plan day, clear boundaries, brief and specific instructions, incentive schemes, kep social situations short and sweet, exercise, healthy diet, bedtime routine, help at school
Medical management of ADHD
Stimulant drugs (increase dopamine):
Short acting methylphenidate eg ritalin
Long acting methylphenidate eg delmosart
Lisdexamfetamine
Non stimulant drugs (reduced breakdown of noradrenaline):
Atomoxetine (SNRI), guanfacine
Describe autism spectrum disorders
Abnormal development from under 3 years old
Abnormal functioning in reciprocal social interaction, communication and restricted, stereotyped and repetitive behaviour
Diagnosis requires at least 6 symptoms across 3 core areas
Management of autism spectrum disorders
Non-pharm management
behavioural therapies, social skills groups, OT, communication interventions, input from dietician if needed, specialised educational programs and structured support
ICD-10 for anorexia nervosa
Deliberately keeping weight below 85% of expected via restricted diet choice, excessive exercise, induced vomiting, use of appetite suppressants and diuretics Dread of fatness-intrusive overvalued idea Endocrine effects (menstruation stops/puberty delayed if menarche not yet achieved, loss of sexual interest in men)
How to screen for eating disorders?
SCOFF
Do you make yourself sick because you’re uncomfortably full?
Do you worry that you’ve lost control over how much you eat?
Have you recently lost more than one stone (about 6kg) in 3 months?
Do you believe you are fat when others say you are thin?
Would you say that food dominates your life?
Potential clinical signs of anorexia nervosa?
Dry skin, lanugo hair, orange skin and palms, cold hands and feet, bradycardia, drop in BP on standing, oedema, weak proximal muscles (squat test)
Management of anorexia nervosa?
Anorexia nervosa focused family therapy
Define bulimia nervosa
Binges followed by compensatory weight loss behaviours eg self induced vomiting, fasting, intensive exercise, abuse of medication
BMI maintained at over 17.5
Presentation of diabetes in children?
Tiredness, toilet, thirsty, thinner
Diagnosis of diabetes in children?
Random plasma glucose > 11.1 mmol/L if symptomatic
Normal fasting blood glucose? post prandial glucose? ketones?
Fasting: 3.5-5.6mmol/L
Post prandial: <7.8
Ketones: <0.6
DKA management?
Fluid, insulin, monitor glucose hourly, monitor electrolytes especially potassium and ketones 2-4 hourly, hourly neuro obs
Fluids in DKA?
0.9% NaCl 20ml/kg bolus if shocked, 10ml/kg if not shocked
Maintenance and deficit fluids
5% fluid deficit in mild DKA
7% deficit in moderate
10% deficit in severe
Do no subtract boluses given for shock
Initial management of type I diabetes mellitus in kids?
Aim for glucose 4-7: need to be able to check this
Give insulin (pump or injection): basal bolus regime most common
Carb counting
Advice for hypos
Lifestyle advice
Carb counting in DMT1?
Insulin:carb ratio= 1 unit for every 15 grams of carb
Correction factor= 1 unit insulin brings blood glucose down by 8
Aim for glucose of 6
Presentation of hypoglycaemia?
Autonomic fxs: irritable, hungry, nauseous, shaky, anxious, sweaty
Neuroglycopenic fxs: confused, drowsy, headache, coma, seizures
Management of hypoglycaemia?
Check levels to confirm
Glucose tablets/gel/containing food or drink first
Check glucose in 15 mins
Follow up with longer acting carb (bread or biscuit)
Severe hypo (requiring additional assistance from another person)= IM glucagon
Long term management of diabetes?
Aim for HbA1c less than 48mmol/mol
Monitoring at least annually: eyes, urine, feet, BP, injection sites, bloods
Types of cryptorchidism?
True undescended= lies along normal path of descent but never present in scrotum
Ectopic testis= lies outside normal path and outside of scrotum
Ascending testis=previously in scrotum but higher now
Absent/atrophic testis=non palpable testis was in scrotum at birth but later disappears
How to manage ?cryptorchidism?
6-8 week baby check exam
If not descended, re examine at 4-5 months to see if spontaneous descent
If not surgical treatment (orchodexy) before 12 months of age
Pathophysiology of testicular torsion?
Testis twists around spermatic cord and cuts off the blood supply to the testicle
Presentation of testicular torsion?
Sudden severe pain on one side of the scrotum, scrotal skin swells and turns red
Nausea and vomiting potential
May have just abdominal pain
Management of testicular torsion?
Surgical emergency: blood supply must be restored within 6 hours or the testicle will infarct
If surgery delayed past 12 hours, 75% will need orchidectomy
Newborns with torsion- testes almost always infarcted so need orchidectomy
What is a bell clapper deformity?
No tissue holding the testes to the scrotum so testes swing inside the scrotum= higher risk of torsion
Cut offs for precocious puberty?
Girls under 8
Boys under 9
2 types of precocious puberty?
Gonadotrophin dependent/ central precocious puberty= true precocious puberty with premature activation of the HPG axis
Gonadotrophin independent/precocious pseudopuberty= due to increased production of sex hormones
Causes of central precocious puberty?
Mainly idiopathic or abnormalities of CNS
Causes of precocious pseudopuberty?
CAH, tumours (HCG secreting), McCune- Albright syndrome, silver-russell syndrome, testotoxicosis, exogenous androgen exposure, severe hypothyroidism
What can you give for true precocious puberty?
GnRH agonists
Define delayed puberty
Girls= absence of breast development by 13 or primary amenorrhoea with normal breast development by 15 Boys= absence of testicular development by age 14
Causes of delayed puberty
Most common= constitutional delay in growth and puberty (CDGP)
Central causes= CDGP, chronic illness, malnutrition, excessive exercise, psychosocial deprivation, steroids, hypothyroid, tumours, congential anomalies, irradiation treatment, trauma, idiopathic hypogonadotrophic hypogonadism
Peripheral causes= bilat testicular damage, syndromes eg Prader-Willi, Klinefelter, rugs. irradation, Turner syndrome, intersex disorders, PCOS
How to manage delayed puberty?
Most are CDGP so need reassurance and monitoring
Can start course of sex hormones (low dose testosterone or gradual increase of oestrogen then cyclical progestogen)
Causes of congenital hypothyroidism
Thyroid dysgenesis, thyroid hormone metabolism disorders, hypothalamic/pituitary dysfunction,
What happens in congenital hypothyroidism isn’t treated?
cretinism: long term irreversible neurological problems and poor growth with intellectual disability
spasticity, gait problems, dysarthria, profound mental disability
How to treat congenital hypothyroidism?
levothyroxine titrated to TFTs
Define gonadotrophin deficiency/hypogonadotrophinism
Low serum concentrations of LH and FSH in presence of low circulating concentrations of sex steroids
How to manage gonadotrophin deficiency?
Induce and maintain secondary sexual characteristics- testosterone and hCG or oestrogen and progestogen
What is Kallmann syndrome?
Hypothalamic gonadotrophin releasing hormone deficiency (GnRH) and deficient olfactory sense (hyposmia or anosmia)
X linked recessive or autosomal recessive
Greater penetrance in males
Presentation of Kallmann syndrome?
Females= primary amenorrhoea Males= cryptorchidism, micropenis
Most are normal stature
Lots have associated stigmata- nerve deafness, colour blind, cleft palate, renal abnormalities
How to manage Kallmann syndrome?
Exogenous sex steroids to induce and maintain secondary sexual characteristics
What is congenital adrenal hyperplasia?
Group of autosomal recessive disorders of cortisol biosynthesis+/- aldosterone +androgen excess
21-hydroxylase deficiency
What is the classic form of CAH?
Ambiguous external genitalia in girls
Boys have no signs at birth
What is the salt-losing form of CAH?
Boys present at 7-14 days with vomiting weight loss, lethargy, hyponatraemia, hyperkalaemia and dehydration
Girls will be identified before a crisis due to genitalia
How to manage classic CAH?
Glucocorticoid replacement= hydrocortisone
+/- Mineralcorticoids= fludrocortisone
Salt losing form need NaCl
Consider surgery for genitalia
Types of androgen insensitivity syndrome? describe
Complete=testosterone has no effect so genitals are entirely female
Partial= testosterone has some effect so genitals not as expected eg penis underdeveloped, fully/partial cryptorchidism, some female genitalia.
How will females with complete androgen insensitivity syndrome present? and partial?
Complete=Develop breasts but amenorrhoea, no pubic or axillary hair, no womb or ovaries
Partial=enlarged clitoris, undescended testicles, hypospadias, often raised as boys
Causes of childhood obesity?
Diet, exercise lack, sleep deprivation (low leptin and high ghrelin), genetics, socio-economics, medication, endocrine eg PCOS/hypothyroid/Cushings/Prader-Willi
Causes of microcytic anaemia?
Low MCV: iron deficiency, thalassaemia, sideroblastic anaemia, lead toxicity, inflammation, haemoglobinopathy
Presentation of anaemia?
Pallor, pale conjuctivae, tachycardia, murmur, irritability, lethargy, poor growth, weakness, sob, signs of haemolysis eg splenomegaly
Risk factors for iron deficiency anaemia in infants and children?
Infants= maternal iron deficiency, premature, low birth weight, multiple pregnancy, exclusively breastfed after 6 months, excess cow’s milk consumption, aboriginal
Children=veggie/vegan, GI disorders, chronic blood loss, heavy menstrual bleeding, extreme athletes
Why are kids more susceptible to iron deficiency anaemia than adults?
30% of their iron comes from diet and 70% from recycled rbcs (whereas adults have 5% from diet and 95% from recycling)
Have higher expenditure
Management of iron deficiency anaemia?
Diet advice and iron supplementation (generally oral)
Which type of thalassaemia is generally incompatible with life?
alpha major (4/4 genes missing to make alpha chain)
What may carriers of thalassaemia have?
Mild microcytic hypochromic anaemia
Presentation of beta thalassaemia major?
Progressive severe anaemia if left untreated
Try to compensate with bone marrow expansion (deformity) and extramedullary haematopoiesis
How to manage beta thalassaemia major?
Genetic counselling and antenatal diagnosis
Regular transfusion with iron chelation therapy to prevent iron overload
May need bone marrow transplantation
What is haemolytic disease of the newborn?
transplacental maternal antibodies causing alloimmune haemolysis of foetal rbcs
Most commonly due to rhesus alloimmunisation (Rh + rbcs from foetus enter rh - maternal blood circulation)
Why does haemolytic disease of newborn occur then and not in utero?
In utero, bilirubin cleared by placenta
In neonate, liver does clearing and can’t handle high bilirubin load
Presentation of haemolytic disease of the newborn?
Jaundice
Pallor
Hepatosplenomegaly
Severe= oedema, ascites, petechiae
What anaemia will haemolytic disease of newborn present as?
Normocytic. Increased reticulocyte count
Management of haemolytic disease of newborn?
50%= normal Hb and bilirubin and need monitoring for late onset anaemia at 6-8 weeks 25%= mod disease and may require transfusion 25%= severe disease= stillborn or have hydrops fetalis- require immediate resus, temp stabilisation, exchange transfusion.
Pathophysiology of sickle cell disease?
Autosomal recessive condition
Adenine to thymine base change causes glutamic acid to become valine
HbS
Sickling causes deformed and easily destroyed rbcs= occlusion of microcirculation and chronic haemolytic anaemia
When do symptoms of sickle cell disease start to present? WHy?
Between 3 and 6 months as HbF levels fall
Complications of sickle cell disease?
Life expectancy 20 years younger
Stroke, aplastic crisis, painful crises, splenic sequestration, acute chest syndrome
How to manage sickle cell disease?
Most complications require urgent blood transfusions
Long term: hydroxycarbamide, prevent infection (influenza, pneumococcal and meningococcal vaccines, penicillin), transfusion programmes, stem cell transplants, gene therapies, prevent crises (eg dehydration precipitates sickling)
How does hydroxycarbamide help in sickle cell disease?
Increases foetal haemoglobin production
What is fanconi anaemia?
X-linked/autosomal recessive condition
Bone marrow failure, solid tumours, leukaemia
How to manage fanconi anaemia?
Treat specific symptoms in each patient
Only curative= stem cell transplant
Cancer treatment
Surgery for skeletal malformations
what factor is deficient in haemophilia a
clotting factor VIII (classic haemophilia, most common)
what factor is deficient in haemophilia b
clotting factor IX (also known as christmas disease)
how does severe haemophilia present?
Increased APTT
Prolonged bleeding, muscle and joint bleeds
how does mild/mod haemophilia present?
Delayed presentation until following trauma or bleeds with surgery/dental extractions
Management of haemohpilia?
Factor VIII for haemophilia a
Factor IX for haemophilia b
How does von willebrand factor work?
Assists in platelet plug formation by attracting circulating platelets and binds to CF VIII, preventing its clearance from the plasma
Presentation of von willebrand disease?
NB more severe in patients with blood group O
Bleeding tendency from mucosa eg epistaxis/menorrhagia, spontaneous bleeding
Describe the types of von willebrand disease?
Type 1=quantitative- mild
Type 2= qualitative- variable
Type 3=quantitative- very low undetectable levels, most severe form, has low factor VIII
How to manage von willebrand disease?
tranexamic acid and desmopressin
or
concetrates with vwf or factor VIII-vwf
Testing for 1st degree relatives
When does immune thrombocytopenia occur?
Commonly after viral infection or sometimes after immunisation
Presentation of ITP?
Usually self limiting and recovers in 6-8 weeks
Some asx
Most- petechiae or bruising, epistaxis
Less common= GI bleeds, haematuria, menorrhagia
Management of ITP?
For most- not treatment, avoids NSAIDs and aspirin, advice and support
If bleeding actively may need prednisolone, IVIg and Iv anti-D Ig in rhesus positive babies
Commonest cancer in children?
Leukaemia- ALL and then AML
Pathophysiology of acute lymphoblastic leukaemia?
Disruption of lymphoid precursor cells in the bone marrow leading to excessive production of immature blast cells: causes drop in functional RBCs/WBCs/platelets
Presentation of leukaemia in children?
Anaemia (lethargy, pallor) Thrombocytopenia (easy bruising/bleeding) Leukopenia (fevers, infections) May complain of bone pain Non specific sxs (weight loss, malaise)
Investigations for leukaemia?
FBC (pancytopenia, thrombocytopenia with significant lymphocytosis), serum biochemistry Blood films (blast cells) CXR (exclude mediastinal mass) Bone marrow aspirate confirms diagnosis LP
Management of leukaemia in children?
Chemo, supportive care with blood products, prophylactic anti-fungals
Chemo in 5 phases (induction, consolidation, interim maintenance, delayed intensification, maintenance)
Maintenance= 2 years for girls and 3 years for boys
Stem cell transplants in high risk patients in 1st remission or relapsed patients
Name 5 different types of primary brain tumour?
Astrocytoma, medulloblastoma, diffuse midline glioma, ependymoma, craniopharyngioma, embryonal tumours, pineoblastoma, brainstem glioma, choroid plexus carcinoma, germ cell tumour
What is the most common brain and spinal cord tumour in children (apart from mets)?
Astrocytoma
Presentation of brain tumour?
morning headaches, nausea/vomiting, diplopia, seizure, increased head circumference, bulging fontanelle, signs of raised intracranial pressure
4 main types of astrocytoma?
Grade 1=pilocytic astrocytoma
Grade 2=diffuse (fibrillary) astrocytoma
Grade 3=anaplastic astrocytoma
Grade 4=glioblastoma multiforme
80% are low grade (1 or 2)
What is the most common high grade brain tumour in children?
Medulloblastoma (2nd most common overall)
Most commonly found in cerebellum
What is Wilm’s tumour? How presents?
Most common paediatric renal mass= nephroblastoma
Painless upper quadrant abdominal mass, haematuria in 20%, hypertension in 25%, ,may have acquired von willebrand disease
how to manage wilm’s tumour?
Nephrectomy and chemo
Cure in about 90% cases
How does neuroblastoma present?
Presents late- majority of symptoms due to mass effect or mets.
Systemic fxs, bruising, weakness/paralysis/BB dysfunction, bone pain, abdominal distension, htn, horner’s syndrome
Almost all are stage 3 or 4 at diagnosis
Where does neuroblastoma arise from?
Adrenal or paraspinal sites most common
arises from developing sympathetic nervous system
Investigating neuroblastoma?
FBC, esr, pt, catecholamine by products in urine, CT, MRI for paraspinal lesions, biopsy
Presentation of retinoblastoma?
Leukocoria (abnormal appearance of pupil), visual deterioration, red and irritated eye, faltering growth, squint, absent red reflex
Management of retinoblastoma?
Eye conserving treatments eg cryo/thermotherapy, photocoagulation, chemo
Enucleation for all unilateral tumours filling over half of the eye or invading eye structures and subsequent fitting of prosthesis
V sensitive to radiotherapy
Which childhood cancer has the best overall survival?
Retinoblastoma (about 99%)
What are the 2 main types of primary bone tumour in in children?
Osteosarcoma (more common) or ewing’s sarcoma (v rare)
Presentation of hepatoblastoma?
Abdominal mass +/- poor appetite, weight loss, lethargy, fever, vomiting, jaundice
Investigating hepatoblastoma?
Raised alpha fetoprotein
What immunisations at 8 weeks?
6 in 1
rotavirus
men B
What is contained in the 6 in 1 vaccination?
diphtheria, hepatitis b, Hib, polio, tetanus, whooping cough
What immunisations at 12 weeks?
6 in 1, PCV (pneumococcal), rotavirus
What immunisations at 16 weeks?
6 in 1, Men B
What immunisations at 1 year?
Hib/Men C, MMR, PCV, MenB
What immunisations at 3 years 4 months?
MMR, 4 in 1 pre school booster (diphtheria, tetanus, whooping cough, polio)
What immunisations at 12-13 years?
HPV
What immunisations at 14 years?
3 in 1 teenage booster (tetanus, diphtheria, polio), MenACWY
What is klinefelter’s syndrome?
Extra X chromosome (commonly 47XXY)
How does klinefelter’s syndrome present in kids?
Delayed speech or learning difficulties, rapid growth in mid-childhood or truncal obesity, hypogonadism
Small firm testes, decreased facial and pubic hair, loss of libido, impotence, gynaecomastia, history undescened testes
Infertility
Diagnosis of klinefelter’s? Management?
Low/low-normal testosterone, elevated FSH and LH, chromosomal analysis
Testosterone replacement
What is Turner’s syndrome?
Loss or abnormality of 2nd X chromosome in phenotypic girls
45X
Different age presentations of Turners syndrome?
Newborns: borderline small, lymphoedema of hands/feet, excessive skin at nape of neck, cardiac abnormalities
Infants: close to third centile, feeding difficulties, poor weight gain, poor sleeping
Preschool: short stature, recurrent middle ear infections, behavioural difficulties, high activity levels
Adolescence: ovarian failure, impaired pubertal growth spurt, obesity, htn, higher prevalence immune disorders, foot problems, learning disabilities
Can have dysmorphic features eg webbed neck, short fingers, lymphoedema, high palate
Can have renal and heart problems
how to diagnose turner’s syndrome?
Via amniocentesis
Chromosomal analysis
Measure gondatrophins, TFTs, renal and heart tests, bone age
Management of turner’s syndrome?
MDT
Short stature- GH therapy
May supplement with oestrogen
Gonadal failure-combined oestrogen and progestogen
Neonatal features of down’s syndrome?
Hyperflexibility, muscular hypotonia, transient myelodysplasia, bradycephaly, oblique palpebral fissures, epicanthic folds, ring or iris speckles (brushfield spots), low set/folded ears, stenotic meatus, flat nasal bridge, protruding tongue, high arched palate, loose skin on nape of neck, single palmar crease, short little finger, short broad hands, gap between hallux and second toes, congenital heart defects, duodenal atresia
What is down’s syndrome? Biggest risk factor?
trisomy 21
maternal age
Management of down’s syndrome?
Annual health checks-hearing, resp (OSA), eyes, heart, neurological, GI, hip, thyroid. Extra support in academia and help with living.
What is edward’s syndrome?
Trisomy 18
Presentation of edward’s syndrome?
More likely to be female
Low birth weight, craniofacial abnormalities (low set and malformed ears, micrognathia, prominent occiput, small facial features, microcephaly, cleft lip), skeletal abnormalities, congenital heart defects, GI abnormalities, GU abnormalities (horse shoe kidney), neurological problems, pulmonary hypoplasia
Management of edward’s syndrome? What to take into account when making decisions?
Feeding difficulties common, 38.5% foetuses die during labour
Chance of survival to 3 months is 20% and to 1 year=8%
May decide to not give life sustaining treatment.
Otherwise manage cardiac failure and resp insufficiency
What is patau syndrome?
Trisomy 13
Presentation of patau syndrome?
Many never survive until term and are stillborn or spontaneously abort
Low birth weight, congenital heart defects, holoprosencephaly causing midline facial defects, brain and cns abnormalities, GI and GU malformations
Life expectancy of patau syndrome?
median is 2.5 days. About 50% live over a week, 5-10% live over a year
What is fragile x syndrome?
Most common cause of sex linked general learning disability. Delayed milestones and typical features eg high forehead, large testicles, facial asymmetry, large jaw and long ears.
Potential diagnoses coming under fragile x syndrome?
ADHD, ASD, obsessive compulsive behaviours, emotional lability, aggressive behaviours, specific speech disorders eg echolalia and perseveration
Management of fragile x patients?
MDT approach and manage each syptom
No cure
Most diagnosed by age 3 usually
Name 4 types of muscular dystrophy?
duchenne muscular dystrophy ( most common and one of most severe) , myotonic dystrophy, facioscapulohumeral muscular dystrophy, becker muscular dystrophy, limb girdle muscular dystrophy, emery-dreifuss muscular dystrophy
Male infant not walking by 18 months- concern? what test?
Concerned about duchenne muscular dystrophy
measure creatine kinase
Presentation of ?muscular dystrophy?
Gower’s maneouvre (stands up by facing floor, wide feet, lift bottom first then hands walked up legs)
Waddling gait, lordosis/scoliosis, large calves and leg muscles compared to other muscles
Management of muscular dystrophy?
Depends on type and severity eg mobility and breathing assistance
Steroids
Ataluren if has DMD, is over 5 and can still walk
Creatine supplements
Treat swallow and heart complications
What features would make you suspect Angleman’s syndrome?
Developmental delay apparent by 6 months, but forward progression with no loss of skills once acquired
Sitting late at 12 months, walking late at 3-4 years, 10% can’t walk, flat and turned out feet, lean forward when run, speech impairment, laughter and smiling/happy demeanour, excitable personality. hand-flapping, short attention span, microcephaly, epilepsy, sleep disorders, excess chewing, drooling, fascination with water, hypopigmentation, prominent mandible
What is the lifespan of angleman’s syndrome?
normal lifespan
Presentation prader willi syndrome?
Hypotonia, developmental delay, obesity, learning disability, behavioural problems
Genetics of angleman’s syndrome?
Maternal deletion of chromosome 15 or paternal uniparental disomy
Genetics of prader willi syndrome?
Paternal deletion of chromosome 15 or maternal uniparental disomy
Diagnostic criteria for prader willi?
Between birth and 3 years: 5 points including 4 major
3 years-adult=8 points including 5 major
Major (1 point); hypotonia with poor suck, feeding problems, excessive weight gain 1-6 years, characteristic facies, hypogonadism, cryptorchidism, global developmental delay, hyperphagia, chromosomal abnormality
Minor (0.5 points); infantile lethargy, behavioural problems, sleep disturbance, short and failed pubertal growth spurt, hypopigmentation, small hands and feet, narrow hands, eye abnormalities, thick saliva, speech articulation defects, skin picking
Management of prader willi?
MDT
GH treatment to maintain normal growth
SSRIs trial
No role for appetite suppressants
What is noonan’s syndrome (formerly leopard syndrome)?
Autosomal dominant condition characterised by: congenital heart disease, short stature, broad and webbed neck, sternal deformity, developmental delay, facial features, cryptorchidism, increased bleeding tendency
What is william’s syndrome?
Rare autosomal dominant disease characterised by CV disease, distinctive facies, connective tissue abnormalties, intellectual disability, growth and endocrine abnormalities
Specific cognitive profile: good on verbal short term memory and language, but poor visuospatial construction
Overly friendly
Infantile hypercalcaemia
Management of william’s syndrome?
MDT management- manage infantile hypercalcaemia with diet and corticosteroids, yearly surveillance, monitoring CV complications
4 domains of developmental milestones?
Gross motor, fine motor and vision, speech and language and hearing, social interaction and self care skills
Development of gross motor skills?
Newborn: flexed arms and legs, equal movement in all 4 limbs 3 months: lifts head when on tummy 6 months: can lift chest up with support from arms, rolls, can sit unsupported 9 months: pulls to stand 1 year: walking 2 years: walks up steps 3 years: jumps 4 years: hops 5years: rides a bike
Development of fine motor and vision skills?
4 mo: palmar grasp 8 mo: cube in each hand 12 mo: scribble with crayon, pincer grip 18 mo: tower of 2 cubes 3 years: tower of 8 cubes
Development of speech, language and hearing?
3 mo: laugh and squeal
9 mo: ‘dada’, ‘mama’
12 mo: 1 proper word
2 years: 2 word sentences, names body parts
3 years: speech mainly understandable
4 years: knows colours, can count 5 objects
5 years: knows meaning of words eg lake
Development of social and self care?
6 weeks: smile spontaneously
6 mo: finger feeds
9 mo: wave bye bye
12 mo: uses spoon/fork
2 years: take some clothes off, feed a doll
3 years: play with others, name a friend, put on t shirt
4 years: dress with no help, play simple board game
Gross motor developmental red flags?
Not sitting by 1 year, not walking by 18 months
Fine motor developmental red flags?
hand preference before 18 months
Speech and language developmental red flags?
no clear words by 18 months
Social developmental red flags?
No smiling by 3 months, no response to carers interactions by 8 weeks, not interested in playing with peers at 3 years
What counts as a global developmental delay?
Over 2 or more domains
What is the mildest form of OI?
Lethal form?
Commonests?
Type I is mildest
Type II is lethal
Type I is commonest= 60%
What is rickets?
Severe vitamin D deficiency (child version of osteomalacia)
Pathophysiology of rickets?
lack of vit D; inadequate mineralisation of bone matrix
Decreased vit D > decreased calcium and phosphate > secondary hyperparathyroidism
In children, this occurs before the growth plates have closed.
Presentation of rickets?
Hypocalcaemic seizures or tetany, bony deformity (eg genu varum and valgum), irritable and reluctant to weight bear, severe can result in cardiomyopathy
Delayed walking, waddling gait, impaired growth, fractures, dental deformities
Investigating rickets?
Bloods, wrist X ray (long bone showing cupping, splaying and fraying of metaphysis eg champagne glass wrist) required for diagnosis
Management of rickets?
Diet, sunlight, vit D supplementation=oral calciferol and calcium supplement
Maintenance dose of calciferol is recommended for family members
Presentation of transient synovitis?
Progressive pain (hip, groin, thigh), limp (inability to weight bear), fever and instability, acute onset
Usually no pain at rest, systemically well
Often preceded by a viral infection
More common in boys
Most common cause of hip pain in children aged 3-10
Usually no findings on esr/crp, xray, uss
management of transient synovitis?
NO long term sequelae and self limiting
Simple analgesia, rest and physio
Usually resolves within 2 weeks
Presentation of septic arthritis?
Most are under 2 years
Fever, pain at rest, inability to weight bear, irritability, if hip=flexed and abducted and externally rotated
Increased ESR
Mainly hip/knee/ankle/shoulder/elbow
Most common cause of septic arthritis?
S. aureus
Management of suspected septic arthritis?
FBC, ESR/CRP, synovial fluid examination and culture, blood cultures. Xray will show later changes (14-21 days)
Surgical emergency: surgical drainage and IV antibiotics- cefuroxime
Most common site of osteomyelitis in children?
Distal femur and proximal tibia
Pathophysiology of osteomyelitis?
Infection of bone marrow, commonly S. aureus
Inflammatory destruction of bone.
If periosteum involved: necrosis and detachment forming a sequestrum
Bony remodelling causes deformity
NB/ involucrum= viable periosteum separated from underlying bone and forms new bone around it
What is the likely mechanism of osteomyelitis in children?
Haematogenous spread- tends to occur in rapidly growing and highly vascular metaphysis of growing bones (long bones more common)
Investigating osteomyelitis?
FBC, ESR/CRP, blood cultures, bone cultures (gold standard), MRI
Management of osteomyelitis?
Local bone and soft tissue debridement, stabilisation of bone, local antibiotic therapy, reconstruction of soft tissue, reconstruction of osseous defect zone
Antibiotic therapy 4-6 weeks if acute, at least 12 weeks if chronic
What is perthe’s disease?
Self limiting hip disorder caused by varying degrees of ischaemia and subsequent necrosis of the femoral head
There is abnormal growth of epiphysis and eventual remodelling of regenerated bone
Symptoms occur with subchondral collapse and fracture
Key points in history for perthe’s disease?
Commonly 5-10 year olds and caucasian. Boys are 80% of cases
Developed over weeks
No history of trauma
All hip movements limited
Subacute limp
May have referred pain to groin/thigh/knee
Unilateral normally
Systemically well
Internal rotation of hip causes guarding or spasm (roll test)
Management of perthe’s disease?
If bone age under 6 years: activity restriction, physio, nsaids
If bone age over 6 years: surgery
What is Kohler’s disease?
Osteochondrosis of tarsal navicular bone
A non inflammatory, none infectious derangement of bony growth, affecting the epiphyses
Presentation of kohler’s disease?
Unilateral antalgic gait, local tenderness of medial aspect of foot over navicular bone
Management of kohler’s disease?
Rest, analgesia, avoid excessive weight bearing, short leg cast for immobilisation, treat for at least 6 weeks
Chronic course but rarely over 2 years
3 types of discoid meniscus?
Incomplete (bit thicker and wider than normal), complete (tibia completely covered by meniscus) and hypermobile wrisberg (normal shape but no posterior attachment to tibia)
How will a discoid meniscus present?
More prone to injury than normal shaped meniscus
Some may never experience problems
Most cases= knee problems, vague pain, audible snap on terminal extension, swelling, locking
Management of discoid meniscus?
If asx, do nothing
otherwise, arthroscopic partial meniscectomy and rehab
4 forms of slipped femoral epiphysis?
Pre slip (wide epiphyseal line, no slippage) Acute form (spontaneous, sudden slippage) Acute on chronic (slippage acutely on already existing chronic slip) Chronic (steadily progressive slip, 85% cases)
each either stable (can walk) or unstable (can’t walk)
Common age for slipped femoral epiphysis?
Boys at 13
Girl at 11.5
Ie at onset of puberty
Tends to be in children v tall and thin or v short and obese
Presentation of slipped femoral epiphysis?
Discomfort in hip/groin/medial thigh/knee during walking and a limp
Drehmann’s sign (passively flex hip, falls back into external rotation and abduction)
Acute= within 3 weeks of onset
Chronic= more than 3 weeks after onset
Management of slipped femoral epiphysis?
Avoid moving/walking, analgesia and surgery (screw fixation, surgical pinning)
What is osgood schlatter disease?
Self limiting disorder of the knee
generally in active adolescents before tibial tuberosity has finished ossification, during adolescent growth spurt
Presentation of osgood schlatter disease?
Gradual onset pain and swelling below knee, relieved by rest, provoked by knee extension or hyperflexing while prone
Management of osgood schlatter disease?
Conservative: rest, ice, physio and exercise advice, simple analgesia
Most patients able to return to activity after 2-3 weeks
Bedside tests for developmental dysplasia of hip?
6-8 week baby check: Observe for symmetry (folds and legs) Ortolani test (forward pressure to each femoral head- positive=joint laxity) Barlow test (gentle backward pressure to femoral head- see if dislocatable)
Galeazzi sign (hip and knee at 90 degrees and compared heights of knees)
age cut off for uss or pelvic x ray for DDH?
Under 4.5 months = USS
Over 4.5 months= pelvic XR
Management of DDH?
Bracing (<6 months)
Dynamic flexion-abduction orthosis (<4.5-6 months)
Surgery for non response to harness or splint
Prevention= safe swaddling
Subtypes of juvenile idiopathic arthritis?
Oligoarticular (1-4 joints) Polyarticular (at least 5 joints)- RF positive or negative Systemic Psoriatic Enthesitis-related Undifferentiated
Qualifying factors for it to be systemic JIA?
at least 2 weeks of fever with at least one of: rash, ln enlargement, hepato/splenomegaly, serositis= pericarditis/pleuritis/peritonitis
Qualifying factors for it to be psoriatic arthritis (JIA)?
Arthritis and psoriasis
or
arthritis and at least 2 of: dactylitis, nail pitting, onycholysis, psoriasis in first degree relative
Qualifying factors for it to be enthesitis related arthritis?
Arthritis or enthesitis and 2 of:
sacroiliac/lumbosacral pain, HLA b27 positive, family history HLA b27 related disease, anterior uveitis
Management of JIA?
Physio, OT, physical activity encouraged, NSAIDs, steroids, methotrexate
May need to use more novel agents eg biologics- etanacerpt. Or sulfasalazine
BLS algorithm key points for children
3s’s initially: safety, stimulate, shout
If not breathing normally 5 rescue breaths
15:2 compressions and breaths
Attempt bls for 1 minute before going to get help if by yourself
compressions on lower half of sternum:
2 fingers or thumbs for infants
heel of hand for children
rate= 100-120 bpm
Head positions in child bls?
Infants under 1= neutral position
Older children= sniffing morning air
Suspected neck injury= jaw thrust otherwise=head tilt and chin lift
What is newborn respiratory distress syndrome?
Also known as hyaline membrane disease and surfactant deficiency lung disease
Usually affects premature babies who don’t have the necessary surfactant (enough produced by week 34 normally)
Presentation of newborn resp distress syndrome?
Peripheral and central cyanosis, rapid and shallow breathing, flaring nostrils, grunting
Management of newborn resp distress syndrome?
Treatment during prem labour= steroid injection before delivery and then a 2nd dose 24 hours later
Treatment after birth= extra oxygen if mild symptoms. More severe= ventilator, dose of artificial surfactant,IV fluids and nutrition
What warrants mild chronic lung disease of prematurity (bronchopulmonary dysplasia)?
Breathing room air at 36 weeks for babies born before 32 weeks
or
air by 56 days of postnatal age for babies born after 32 weeks
What warrants moderate chronic lung disease of prematurity?
Needing less than 30% oxygen at 36 weeks if born before 32 weeks
or
needing less than 30% oxygen at 56 days of postnatal age if born after 32 weeks
What warrants severe chronic lung disease of prematurity?
Need more than 30% oxygen to breathe +/- CPAP at 36weeks/56 days postnatal
What can be seen on CXR of a baby with chronic lung disease of prematurity?
Diffuse haziness, coarse interstitial pattern=atelectasis, inflammation, +/-pulmonary oedema
Management of chronic lung disease of prematurity?
Minimise ventilation associated lung injury, continuous oxygen monitoring, nasal CPAP, maintain o2 between 91-95%, send them home on oxygen
Potential: Dexamethasone short term, diuretics, methylxanthines eg caffeine (increases resp drive and decreases apnoea)
What is meconium?
Dark green faecal material produced during pregnancy, which is passed by the baby
Why is meconium aspiration bad?
Vasoactive and cytokine substances activate inflammatory pathways and inhibit the effect of surfactant
Causes varying degrees of respiratory distress in the newborn
Potential consequences: airway obstruction, foetal hypoxia, pulmonary inflammation, infection (chemical pneumonia), surfactant inactivation, persistent pulmonary htn
Management of meconium aspiration?
Depends on severity of resp distress eg obs, routine care, ventilation/oxygen, antibiotics, surfactant, inhaled nitric oxide if pulmonary htn, steroids
Prognosis of meconium aspiration?
80% have 3-4 day illness then discharged home
Complications= air leak, cerebral palsy, chronic lung disease
What is hypoxic ischaemic encephalopathy?
also known as intrapartum asphyxia
Brain injury caused by oxygen deprivation leading to death or severe impairment eg epilepsy, developmental delay, motor impairment, neurodevelopmental delay and cognitive impairment, cerebral palsy
Damage is permanent
What events could lead to asphyxia?
Acute maternal hypotension, cardiac complications, injury from umbilical cord, impaired blood flow to brain during birth, intrapartum haemorrhage, placental abruption, labour and delivery stress, trauma etc
What comes under TORCH infection?
Toxoplasmosis Others= syphilis, parvovirus b19, vzv, enteroviruses, lymphocytic choriomeningitis virus, HIV, zika Rubella Cytomegalovirus HSV
What do torch infections generally do?
Infections during pregnancy that cause congenital defects
Generally greater risk of harm if mum infected in early pregnancy
Can cause miscarriage or spontaneous abortion
Congenital toxoplasmosis issues?
Chorioretinitis with blindness, anaemia, hepatic and neurological symptoms
What can the ‘others’ of Torch infection cause?
Syphilis= bowed sabre shins, hutchinson teeth, typical facial appearance
Parvovirus b19= anaemia, hydrops fetalis, myocarditis
VZV= chorioretinitis, cataracts, limb atrophy, cerebral cortical atrophy, neurodisability
Zika= microcephaly, positional/hearing/ocular abnormalities
What can rubella do to the neonate?
Intrauterine growth restriction, intracranial calcifications, microcephaly, cataracts, cardiac defects, neuro disease
Blueberry muffin appearance
Most occur if exposure during first 16 weeks of pregnancy
What can cytomegalovirus do to the neonate?
Growth restriction, sensorineural hearing loss, intracranial calcification, microcephaly, hydrocephalus, hepatosplenomegaly, optic atrophy, delayed psychomotor development
More severe in 1st trimester, but more common in 3rd trimester
What drug can be used to stop the progression of hearing loss due to CMV?
Ganciclovir
Describe physiological jaundice in the neonate?
Increased rbc breakdown and immature liver function
Present at 2-3 days of age
Jaundice begins to disappear towards end of first week and resolved by 10 days
Bilirubin under 200 micromol/L and baby remains well
Causes of early neonatal jaundice aka onset in under 24 hours
Haemolytic disease (rhesus, ABO incompatibility, G6PD deficiency, spherocytosis)
Infection (toxoplasmosis/TORCH)
Haematoma
Maternal autoimmune haemolytic anaemia (SLE)
Gilbert’s syndrome
Dubin-Johnson syndrome
Crigler-Najjar syndrome
Causes of prolonged neonatal jaundice aka lasting over 14 days (term) or over 21 days (preterm)
Infection, hypothyroid, hypopituitarism, galactosaemia, breast milk jaundice, GI eg biliary atresia
How common is jaundice in the 1st week of life?
60% term and 80% preterm babies develop it
15% of healthy infants get physiological breastmilk jaundice
What is kernicterus?
A complication of neonatal jaundice- bilirubin encephalopathy (unconjugated)
Occurs mainly in premature babies.
Features of kernicterus?
Early features= jaundice, hypotonia, poor feeding, absent startle reflex
May then develop: high pitched cry, hypertonia of extensor muscles with arched back and hyperextended neck, bulging fontanelle, seizures
Potential complications= chronic bilirubin encephalopathy, extrapyramidal signs, visual problems, hearing problems, cognitive defects, dental enamel
Management of kernicterus?
Manage neurological complications, phototherapy and exchange transfusions
What is the most common GI emergency in neonates?
Necrotising enterocolitis
What can be found on examination of a baby with necrotising enterocolitis?
Distension, visible intestinal loops, altered stools, bloody mucoid stool and bilious vomiting, decreased bowel sounds, erythema, associated systemic features
Management of ?necrotising enterocolitis?
Confirm diagnosis by AXR and get baseline biochemistry
Nil by mouth, bowel decompression, Iv fluids and TPN (total parenteral nutrition), IV abx for 10-14 days (gentamicin and metronidazole), surgery if perforated/necrotic bowel suspected
NB/ stages i= suspected, iia=mild, iib=moderate, iiia=advanced, iiib=deteriorating
What is gastroschisis?
Congenital defect of the abdominal wall where the abdominal contents herniate into the amniotic sack (usually the small intestine, but sometimes stomach, colon and ovaries). There is no covering membrane.
The opening is less than 5cm in length
Management of gastroschisis?
Scheduled preterm delivery may improve the post op outcome.
Primary closure of the defect
Simple v complex gastroschisis?
Simple= intact, uncompromised and continuous bowel Complex= bowel perforation, atresia or necrosis
Difference between gastroschisis and exomphalos?
Exomphalos has bowel contents in a sac, is more variable in size, and has a more central location
Gastroschisis has no covering membrane, is under 5 cm in length and tends to be to the right of umbilical cord insertion
What is oesophageal atresia?
Congenital abnormality with a blind ending oesophagus in isolation or with at least one fistula(e) communicating between normal oesophagus and trachea (tracheo-oesophageal fistula0
Associated anomalies with oesophageal atresia?
VACTERL syndrome (vertebral, anorectal, cardiovascular, tracheo-oesophageal, oseophageal atreisa, renal abnormalities, limb) CHARGE association (coloboma, heart, atresia, retarded development, genital hypoplasia, ear) Chromosomal abnormalities eg trisomies
Postnatal presentation of oesophageal atresia?
Respiratory distress, choking, feeding difficulties, frothing in first few hours after birth
Management of oesophageal atresia?
Surgery
Presentation of bowel atresia?
Persistent vomiting-often bilious and within hours of birth
on Xray= double bubble sign of duodenal atresia, colonic atresia has normal air levels
Most common metabolic problem in neonates?
Gestational diabetes and hypoglycaemia
(glucose passes through placenta and elevates glucose levels in foetus, causing increased insulin secretion, this leads to hypoglycaemia)
Plasma glucose under 30 mg/dL
Pathophysiology of neonatal hyperthyroidism?
Usually caused by maternal graves disease- antibodies cross the placenta and cause the foetus to develop hyperthyroidism
Usually temporary, but can be life threatening.
Untreated congenital hyperthyroidism?
Risk of craniosynostosis (early skull closing), intellectual disability, growth failure, hyperactivity in later childhood
Management of congenital hyperthyroidism?
Antithyroids and beta blockers- stopped when antibodies have disappeared (usually fully resolved by 6 months)
NB/ if mum took thyroid drugs during pregnancy, the child may not show symptoms until 3-7 days
How many women carry group b strep in genitals?
1 in 4
Presentation of neonate with GBS infection?
Sepsis, pneumonia, meningitis signs, BP changes, seizures
Management of GBS infection?
IV antibiotics- penicillin G
What can listeria do to a neonate?
Low birth weight, prematurity, circulatory and/or respiratory insufficiency, meningitis, sepsis
Management of neonatal listeria infection?
Ampicillin and aminoglycoside eg gentamicin
Cause of encephalitis in neonates?
HSV2 from vertical transmission
Presentation of HSV encephalitis?
Non specific: decreased levels of consciousness, seizures, lethargy, fever
Management of HSV encephalitis? Prognosis?
IV aciclovir Highly lethal (around 50%) Complications= deaf, vision loss, cerebral palsy, seizure
Management of cleft lip/palate?
Surgery
Cleft lip at 3-6 months
Palate at 6-12 months
What is ophthalmia neonatorum?
Conjunctivitis in newborn due to vertical transmission (contact with mum’s birth canal infected by STI)
Commonly chlamydia
Also: haemophilus, strep, staph, pseudomonas, HSV, adenovirus, enterovirus
Chance of ophthalmia neonatorum in babies born to untreated chlamydia?
30-50%
Presentation of ophthalmia neonatorum?
Red, discharging, swollen lids, usually bilateral
Lid oedema, conjunctival oedema, mucopurulent conjunctivitis, cornea can be involved
Management of ophtalmia neonatorum?
Culture conjunctiva and PCR to establish causative organism
Bacterial= systemic penicillin G or cephalosporin for gonorrhoea Chlamydia= systemic erythromycin or topical azithromycin Herpetic= topical and systemic aciclovir
Premature baby still needing breathing support by 36 weeks corrected age = what?
Chronic lung disease/ bronchopulmonary dysplasia
Caused by underdeveloped lungs
Management of bronchopulmonary dysplasia?
Oxygen (can further damage lungs), breathing support (CPAP or mechanical ventilation), may need steroids
Pathophysiology of retinopathy of premature baby?
Abnormal blood vessel growth are fragile and weak, causing bleeding and leakage
Usually bilateral
Ranges from abnormal blood vessel growth to full retinal detachment (stage i-v)
Can cause blindness
Management of retinopathy of premature baby?
Laser therapy or cryotherapy: destroys peripheral retina and slows/reverses abnormal vessel growth, but loses some side vision
Why are premature babies at risk of osteopenia?
May not receive the full amount of calcium and phosphorus needed to form strong bones
Haven’t been as active in the womb and thus have weak bones
Very premature babies lose more phosphorus in urine than term babies
Can be due to low vit D
How to treat osteopenia of premature baby?
Supplements- calcium and phosphorus added to IV fluids or breast milk
Special formulas if no breast milk
Vit D supplements for babies with liver problems
What is periventricular leukomalacia?
White matter surrounding ventricles deprived of blood and thus oxygen. This causes softening of the white matter
Consequences of periventricular leukomalacia?
Most commonly cerebral palsy
May have visual problems and learning disability
Not progressive
Presentation depends on amount of brain tissue damaged
What is apnoea in a prem baby?
Prem baby pauses breathing for over 15-20 seconds
or
pauses breathing for under 15 seconds but has bradycardia or low sats
Usually self limiting
What is transient tachypnoea of the newborn?
Caused by leftover fluid in lungs making it harder for the alveoli to stay open
RR over 60
Most improve over 24-48 hours, and most cases self limit
Who is more likely to have transient tachypnoea of the newborn?
Born before 38 weeks, c-section delivery, born to diabetic or asthmatic mother, twins, male
Forms of child abuse
Physical, neglect, emotional, sexual
What may come under child neglect?
Medical eg unimmunised, non attendance
Nutritional eg faltering growth, obesity
Emotional
Educational eg poor school attendance
Physical eg inadequate hygiene, persistent infestation, inappropriate clothing
Failure to supervise eg frequent A+E trips, injury suggesting lack of care such as sun burn
Normal presentation/history of toddler’s fracture?
Subtle undisplaced spiral fracture of tibia
Usually pre school, sudden twist after an unwitnessed fall
Local tenderness over tibial shaft or on general strain on tibia
Criteria for septic arthritis rather than just irritable hip?
Kocher’s criteria
Fever over 38.5, cannot weight bear, ESR>40 in 1st hour, WCC>12
RFs for DDH?
Breech, female, C-section, 1st child, premature, oligohydramnios, FH, club feet, spina bifida, infantile scoliosis
What constitutes an atypical UTI in children and what do you need to do if this is the case?
Atypical= septicaemia/IV abx needed, non e.coli, poor urine flow, abdo/bladder mass, increase creatinine, failure to respond to treatment within 48 hours Recurrent= at least 2 episodes with at least 1 with systemic features, or at least 3 episodes without systemic features
Need to investigate for a structural abnormality
How to investigate ?structural abnormality in the case of UTI?
- USS renal tract (looks at size and drainage of kidneys and bladder)
- Micturating cystourethrogram/MCUG (looks for vesicoureteric reflux, looks at bladder and posterior urethral valve)
- DMSA scan/radionucleide imaging (looks at renal function and any renal scarring)
Features of nephritic syndrome?
Haematuria, proteinuria, impaired GFR, salt and water retention (htn and oedema)
Management of nephritic syndrome?
Fluid balance management (input/output, fluid restriction, diuretics, salt restriction)
Correct other imbalances (K, acidosis)
Dialysis may be needed (uncommon)
Penicillin for treatment of an ongoing strep infection
What is choanal atresia?
Presentation?
Management?
Failure of the nose to canalise (bony or membranous)
Px: Cyclical cyanosis: cries and goes pink, when stops goes blue and repeat. No misting on a cold spatula
Mx: secure airway and send to tertiary centre for dilatation +/- stent insertion
Management of epistaxis?
ABC
Med tx= topical naseptin, silver nitrate cautery
Surgical tx= electrocautery
NB/ teenage boy with persistent nosebleeds and nasal obstruction- ?juvenile nasopharyngeal angiofibroma
Why is sinusitis uncommon in children?
Maxillary sinus exists at birth but only grows to full size after 2nd dentition
Ethmomid sinuses only 2-3 cells at birth
No/rudimental frontal sinuses at birth (develop by 7-8 years)
Narrowest point in child’s airway vs adult’s?
Children=subglottis
Adults=vocal cords
What is the most common airway abnormality in children and it’s presentation?
Laryngomalacia
Normal voice, stridor worse on feeding/exertion/supine, failure to thrive in 10%, increased work of breathing
What tool to produce standardised disability levels and what domains assessed?
WHO-DAS (disability assessment schedule)
Cognition, mobility, self care, social, life activities, participation
What to do if ESBL for UTI?
Resistant to all penicillins and cephalosporins
Therefore switch to IV meropenem (or gentamicin)
empirical Abx for pneumonia
Amoxicillin
Medical words for short sighted and long sighted?
Difference of at least 1 unit in refractive error of each eye?
Short=myopia
Long=hypermetropia
1 unit difference= asinometropia
Treatment of amblyopia?
- Refractive adaptation (glasses for 16-18 weeks)
- Occlusion of better seeing eye (full or part time)
- Atropine drops/ointment into better seeing eye (blurs vision due to dilation of pupil and paralysis of accommodation)
Ocular movements name for the right movement and left and midline movements?
Right= dextro elevation/version/depression
Left=laevo elevation/version/depression
Midline= direct elevation, primary position, direct depression
Management of strabismus?
Conservative= glasses/contact lenses, prisms (good for diplopia), orthoptic exercises (latent strabismus)
Surgery:
For esotropia; bilateral medial rectus recession or weaken medial rectus+ strengthen lateral rectus in the same eye
For exotropia: bilateral lateral rectus recession or weaken lateral rectus+strengthen medial rectus in same eye
Also: botulinum toxin into muscle that needs weakening, done under ketamine anaesthesia
What shape lens for myopia? For hypermetropia?
Myopia/short sighted= concave
Hypermetropia/long sighted=convex
When do you expect primitive reflexes to disappear?
By 4-6 months, lots of babies lose them within 2 months
What is sturge weber syndrome?
Port wine birthmark on upper half of face, abnormal blood vessels in brain and eye abnormalities (eg glaucoma)
What counts as mild dehydration and features?
Less than 5%
Thirst, dry lips, restlessness, irritability
What counts as moderate dehydration and features?
5-10%
Sunken eyes, decrease skin turgor, decreased urine output
What counts as severe dehydration and features?
Over 10%
Cold, mottled, hypotensive, anuria, decreased consciousness
What options for formula for children with cow’s milk protein allergy?
Hydrolysed eg althera
Amino acid based eg alfamino
Goat milk formula from birth
Soy formula from 6 months
What fluids needed for not dehydrated/dehydrated/shocked?
Not dehydrated=maintenance
Dehydrated=maintenance+deficit
Shocked=bolus+maintenance+deficit
What maintenance fluids do neonates need?
10% glucose with increasing rate every day
Monitor U+Es every day
From day 2 if needed= sodium 2-3mmol/kg/day and potassium 1-2mmol/kg/day
How to estimate child’s weight?
Weight (kg) = (age (yrs) + 4) x 2
What fluids for maintenance in children? How much?
0.9% NaCl (normal saline)
First 10kg=100ml/kg
Next 10kg=50ml/kg
Every other kg=20ml/kg
Calculates how much in 24 hours
How do you calculate the fluid rate in children?
Rate ml/h= total (ml) / 24
How to calculate the deficit fluids in children?
Deficit x 10 x wt(kg)
Where estimated deficit=
mild= negligible, mod=5%, severe=10%
What bolus do you use and which volume?
0.9% NaCl, volume=20ml/kg
May use 10ml/kg in some cases eg trauma, DKA
Tends to be 20ml/kg if shocked in DKA, 10ml/kg if not shocked
What constitutes faltering growth?
Failure to gain adequate weight or height/length during infancy or early childhood
Birth weight <9th centile with a fall across at least 1 wt centiles
Birth weight between 9-91st centile with a fall across at least 2 wt centiles
Birth weight over the 91st centile with a fall across at least 3 wt centiles
Current weight below 2nd centile whatever the birth weight
When would you expect a baby to get back to his birth weight?
3 weeks
What is ARFID?
Avoidant or restrictive food intake disorder
Significant weight loss and nutritional deficiencies with a reliance on supplements but not underlying condition causing it
Measure of severity of dka and corresponding fluids?
Use pH of blood to rate severity
5% fluid deficit in milk DKA= 7.2-7.29 +/or bicarb <15
7% deficit in mod DKA= 7.1-7.19 +/or bicarb <10
10% deficit in severe DKA= <7.1 +/or bicarb <5
Do not subtract boluses given for shock
What are the 3 shunts in the foetal circulation?
Foramen ovale: right atrium to left atrium (bypass lungs)
Ductus arteriosus: pulmonary artery to aorta
Ductus venosus: bypass liver
How will coarctation of the aorta present?
Weak femoral pulses
Pre and post ductal difference in saturations if DA still patent
Discrepancy between upper and lower limbs
In older children= may develop murmur over back after collaterals develop
If ductus arteriosus closes straight away: babies present collapsed and acidotic
How will aortic stenosis present?
Weak pulses all over.
Thrill palpable in suprasternal region and carotid area.
Ejection systolic murmur in aortic area
How does pulmonary stenosis present?
Ejection systolic murmur in the left upper sternal edge. Murmur often radiates to back. Right ventricular heave if significant stenosis
Simple pathophysiology of transposition of great arteries?
Pulmonary artery and aorta switched
Deoxygenated blood travels to body and oxygenated blood travels through the lungs
What are the causes of hearing loss in children?
70% non syndromic eg congenital infections esp CMV, general infections
30% syndromic eg ushers syndrome, wardenbergs syndrome, treacher collins, alport syndrome
With conductive hearing loss, where is the problem likely to be?
Middle ear eg glue ear, ear wax, perforated ear drum, eustachian tube dysfunction
With sensironeural hearing loss, where is the problem likely to be?
Inner ear- most cases affecting the cochlea
What are the two broad types of hearing test?
Objective- otoacoustic emissions, auditory brainstem response
Subjective- distraction test, visual reinforcement audiometry, performance testing, pure tone audiometry
Causes of osteoporosis in children?
Inherited/congenital eg OI, inborn errors of metabolism, haem problems, idiopathic
Acquired eg drug induced eg steroids, endocrinopathies, malabsorption
What is osteogenesis imperfecta?
AD inherited condition, v rare
Mostly due to defects in type i collaegen
Characteristed by bone fragility, fractures, deformity, bone pain, poor growth, impaired mobility
How can you manage osteogenesis imperfecta?
MDT management esp ortho team and metabolic bone specialist
Bisphophonates
Describe the types of osteogenesis imperfecta?
type 1- most common, mild
2- lethal
3- progressively deforming, severe
4- moderate
Describe rickets presentation
Rachitic rosary, limb deformity, weakness, misery
Metaphyseal swellings, bowing deformities, slowing of linear growth, motor delay, hypotonia, fractures, resp distress
Causes of low vit d/rickets?
Maternal vitamin D deficiency causes low stores in newborn, exclusive breastfeeding will exacerbate
Lack of dietary intake ie prolonged unsupplemented breastfeeding
What may indicate a shaken baby?
Hypoxia, subdural haematoma, rib fractures, retinal haemorrhages, may have other fractures, torn frenulum
Normal HR, RR and systolic BP for under 1s
110-160 bpm
RR: 30-40
BP: 80-90
Normal HR, RR and systolic BP for 1-2 yos?
100-150 bpm
RR: 25-35
BP: 85-95
Normal HR, RR and systolic BP for 2-5 yos?
95-140bpm
RR: 25-30
BP: 85-100
Normal HR, RR and systolic BP for 5-12 yos?
90-110bpm
RR: 20-25
BP: 90-110
How should a premature baby be fed?
IV fluids/parenteral nutrition as suckle and swallow only starts from 32-34 weeks
Start small volumes of expressed breast milk and build up to full feeds slowly (risk of NEC if too quick)
How to manage jaundice?
Treat underlying
Phototherapy or exchange transfusions
Causes of acute scrotum in children?
Testicular torsion!!!
Also torsion of appendix testis (self limiting, but if any diagnostic doubt treat as testicular torsion)
Vomits and presentation age in pyloric stenosis, malrotation and intussusception
Malrotation: bilious green vomit at 24 hours
Pyloric stenosis: milky vomit at 4 weeks
Intussusception: milky then green vomit at 6 months
Acute asthma management?
Oxygen if needed, SABA, prendisolone 1mg/kg, IV salbutamol bolus, aminophylline/MgSO4/salbutamol infusion options
