Paediatrics Flashcards
Define acute epiglottitis
Rapidly progressing infection causing inflammation to epiglottis. Paediatric emergency as epiglottis can block upper airway
What are the causes of acute epiglottis?
Haemophilus influenza B virus
Rare now as many children are vaccinated, but always check
What is the presentation of acute epiglottitis in a child?
High fever, ill, toxic looking, intensely painful throat, difficulty swallowing or speaking, drooling down chin, soft inspiratory stridor, rapidly increasing resp rate, child sat immobile upright with open mouth
What is the management of acute epiglottitis?
- Secure airway, endotracheal intubation may be necessary
- Once airway secure, take cultures and examine throat
- Treat with IV antibiotics: cefuroxime
Aetiology of acute lymphocytic leukaemia (ALL)?
Malignant clonal disease that develops when a lymphoid progenitor cell becomes genetically altered through somatic changes and undergoes proliferation.
Leads to ALL, early lymphoid precursors replace normal haematopoietic cells of bone marrow
Who is affected by acute lymphocytic leukaemia (ALL)?
Children under 6 and adults over 80
What is the presentation of acute lymphocytic leukaemia (ALL) in children?
Any child presenting to GP with bruising, enlarged lymph nodes, and systemic illness should be referred.
- Lymphadenopathy most common sign
- hepatosplenomegaly, pallor/petechiae, fever, fatigue, dizziness, weakness, epistaxis
How is acute lymphocytic leukaemia (ALL) diagnosed?
Through bone marrow biopsy
What are some triggers for an acute asthma exacerbation?
(paeds)
Exposure to allergens such as dust, pollution, animal hair or smoke
What is the pathophysiology behind an acute asthma exacerbation?
(paeds)
Exposure to allergen triggers an IgE type 1 hypersensitivity reaction, leading to smooth muscle contraction, bronchial oedema and mucus plugging
Presentation of an acute asthma attack?
(paeds)
- fast onset breathlessness
- wheeze; may be audible bedside or if not should be bilaterally on auscultation
- possible subjective chest tightness
What are some signs of an acute severe asthma attack?
(paeds)
- Respiratory distress (resp rate >30/min in children over 5, unable to complete sentence)
- Tachycardia (>125bpm in children over 5)
- peak expiratory flow rte 33-50% of predicted
What are some lifethreatening features of a severe asthma attack in a child?
- peak expiratory flow rate <33% of predicted
- oxygen sats <92%
- silent chest on auscultation
- weak or no respiratory effort
- hypotension
- exhaustion
- confusion
What are the differentials for an asthma attack in children?
- pneumothorax
- anaphylaxis
- inhalation of foreign body
- cardiac arrhythmia
Management of an acute exacerbation of asthma in a child
Stepwise approach:
1. Inhaled slabutamol
2. nebulised salbutamol
3. add nebulised ipratropium bromide
4. if O2 sats<92% add magnesium sulfate
5. oral or intravenous steroids
6. add intravenous salbutamol if no response to inhaled therapy
7. if severe or life threatening not responsive to inhaled therapy add aminophylline
O2 sats should be maintained between 94-98% with high flow oxygen if necessary
What is the definition of an atrial septal defect?
Relatively common cardiac malformation where there is a hole between the left and right atria (caused by a defect in the septum secundum during development)
Pathophysiology of atrial septal defect
hole - causes flow from higher pressured left atrium into lower pressured right atrium.
low pitched diastolic rumble in tricuspid area (lower left sternal border), flow murmur over pulmonary valve.
ejection murmur sternal edge
Presentation of an atrial septal defect
May be aysymptomatic or present with late onset cyanosis or even heart failure
How is an atrial septal defect diagnosed?
Echocardiogram
Management of an atrial septal defect
depends on severity
most managed conservatively
some require surgery
routine echocardiograms
Complications of an atrial septal defect
Heart failure - later on in life (20’s+30’s)
paradoxical embolisms
What is the aeitiology of ADHD?
associated with reduced activity in the frontal lobe causing in problems in executive functioning
impairs ability to focus on different tasks and inhibit impulsive behaviours
Management of ADHD
Conservative: behavioural techniques, extra support in school
Medical: stimulant medication (methylphenidate)
What is autistic spectrum disorders?
characterised by a spectrum of social, language and behavioural deficits
Socially, children with autism don’t enjoy or seek comfort from company with other people and aren’t able to imagine the persepctive of other people
Presentation of autistic spectrum disorders (most severe cases)
- not able to understand that other people have thoughts and feelings, prefer to play alone and avoids eye contact
- speech and language delay, monotonous tones of voice, limited expression and problems. Intepret speech literally
- narrow interests, ritualistic behaviours that rely heavily on routine and sterotyped movements
- commonly associated with learning difficulties
- about 25% children with autism may also have seizures
Management of autistic spectrum disorders
MDT approach
Applied behavioural analysis, positive behaviours encouraged, negative behaviours ignored
What is bacterial tracheitis
Rare, but dangerous
Presents similar to croup
Presents: high fever and rapidly progressive airway obstruction with copious thick airway secretions
Cause of bacterial tracheitis
Most common: staphylococcus aureus typically following upper resp tract infection
Management of bacterial tracheitis
IV antibiotics
some cases require intubation
Causes of constipation in children?
- low fibre diet
- dislike of using toilet
- pain on passing stool; secondary to anal fissure or very hard stool
- not regonising sensation of needing to pass stool
How is chronic constipation diagnosis made in children?
history and palpation of impacted faeces (hard, depressible masses) on abdo exam
Management of constipation in children
1st; movicol disimpaction regimen
followed by maintainence movicol, alongside high fibre diet and advice about encouraging good toilet habits
Presentation of Hirchsprung’s disease?
delay in passing meconium (>48hrs)
distended abdomen
forceful evacuation of meconium after digital rectal examination
How is Hirchsprung’s disease diagnosed?
confirmed by rectal suction biopsy
Management of Hirchsprung’s disease?
through removal of section of aganglionic colon and health bowel is pulled through
Definition of ventricular septal defect
birth defect of heart - hole in wall (septum) that separates ventricles of the heart
Presentation of a ventricular septal defect
pan-systolic murmur heard on auscultation
large - sob on exertion, maybe poor weight gain
Diagnosis of ventricular septal defect
Echocardiogram
chest xrays and ecg useful too but not diagnostic
management of ventricular septal defect
many self resolve, managed conservatively with increased calorie intake and observation
those which don’t resolve or cause heart failure - catheter intervention
Definition of jaundice
eyes and skin turn yellow due to build up of bilirubin.
Causes of neonatal jaundice <24hrs
ALWAYS PATHOLOGICAL <24hrs!
- haemolytic disorders; rhesus incompatibity, ABO incompatibility, G6PD, spherocytosis
- congenital infection (TORCH screen indicated)
- sepsis
causes of neonatal jaundice 24hrs - 14 days
- physiological jaundice
- breast milk jaundice
- dehydration
- infection, including sepsis
- haemolysis
- bruising
- polycythaemia
- crigler-najjar syndrome
Causes of neonatal jaundice >14days (>21 if preterm)
- physiological
- breast milk
- infection
- hypothyroidism
- biliary obstruction (incl biliary atresia)
- neonatal hepatitis
What causes physiological neonatal jaundice?
elevated bilirubin due to:
- babies being relatively polycythaemic at birth
- red cell life span of newborns shorter than adults
- hepatic bilirubin metabolism less efficient in 1st few days of life
Management of neonatal jaundice
bilirubin levels should be measured and plotted on nomograms
pts may need phototherapy or an exchange transfusion
Complications of jaundice
kernicterus is rare but serious; caused by excess bilirubin damaging the brain (esp basal ganglia)
What is cystic fibrosis (CF)?
progressive, autosomal recessive disorder that causes persistent lung infections and limits ability to breathe over time
Causes of CF?
mutations of CFTR protein
Most common mutation affecting delta-F508 results in abnormal glycosylation and subsequent degradation of CFTR protein
defects of chloride transport across cell membranes cause mucous secretions to be very thick
Respiratory complications of CF
thick mucus in lungs; cough, recurrent infections, bronchiectasis
sinusitis and nasal polys common. Pts usually colonised with pseudomonas in lung by age of 20
Digestive system complications for CF
reduced pancreatic lipase enzyme secretion inhibits fat absorption, causing steatorrhoea
poor fat absorption consequently contributes deficiency of fat soluble vits (ADEK)
poor weight gain
damage to pancreas - diabetes
reproductive complications of CF
seminiferous tubes blocked; men with CF unable conceive naturally
fertility in women lower than average; thicker cervical mucus
Presentation of CF in neonate
meconium ileus
delay passing meconium and GI obstruction
meconium ileus dx and treated with a gastrograffin enema
presentation of CF in infants
baby’s sweat very salty - parents describe
faltering growth
recurrent chest infections
presentation of CF in toddlers
faltering growth
recurrent chest infections
malabsorption syndromes
presentation of CF in older children
faltering growth
recurrent chest infections
malabsorption syndromes
delayed onset puberty
Diagnosis of CF
sweat test
- also screen for on neonatal blood spot test in 1st few days of life; raised blood immunoreactive trypsinogen.
management of CF
MDT management
daily chest phsyiotherapy techniques to help clear mucus and prevent pneumonias
prophylactic antibiotics, bronchidilators, medicines to thin secretions (dornase alfa)
pancreatic enzymes replacement (creon) and fat soluble vits (ADEK) also useful
vaccines; influenza, pneumococcal
end stage; bilateral lung transplant
Definition of meconium ileus
baby’s first stool (meconium) is so thick and sticky that is causes intestinal obstruction
90% of meconium ileus is associated with CF. T/F?
True
Presentation of meconium ileus
no meconium passed within 48hrs from birth
signs of intestinal obstruction
diagnosis of meconium ileus
abdo xray - shows ‘bubbly’ appearance of intestine with lack of air fluid levels
management of meconium ileus
IV fluids and stomach drainage with an Ryles tube
enemas
surgery in severe cases
aetiology of neonatal resp distress syndrome (NRDS)
lack of surfactant (phospholipid containing fluid produced by type 2 pneumocytes)
lack of surfactant increases surface tension and causes alveoli to collapse, triggering resp distress
prem babies are more at risk of NRDS
diagnose of Neonatal respiratory distress syndrome (NRDS)
clinical evaluation
‘ground glass’ appearance seen on chest xray
management of Neonatal respiratory distress syndrome (NRDS)
intratracheal instillation of artificial surfactant
premterm delivery expected - give mother glucocorticoids before delivery increases surfactant production in baby
complications of Neonatal respiratory distress syndrome (NRDS)
preterm mortality
What is pyloric stenosis?
hypertrophy of pyloric sphincter
What age does pyloric stenosis usually occur?
babies aged 6-8 weeks old
presentation of pyloric stenosis
vomiting after feeds (can be projectile - hitting walls)
may increase with intensity as obstruction becomes more severe
o/e palpable as smooth olive size mass
complications of pyloric stenosis
acid base abnormality due to vomiting of hypocholoremic hypokalaemia metabolic acidosis
dehydration
diagnosis of pyloric stenosis
abdo ultrasound
management of pyloric stenosis
surgical - pyloromyotomy
until surgery, baby should be nil by mouth and kept on IV fluids
severely dehydrated babies may require acute fluid resus
Whats hydrocephalus in paeds?
result of excess cerebrospinal fluid (CSF) accumulating in brains ventricular system
puts pressure on brain parenchyma
causes of non-communicating hydrocephalus (paeds)
something obstructs flow through ventricular system: congenital malformation (stenosis of aqueduct or a chiari malformation), tumour or vascular malformation in posterior fossa, intraventricular haemorrhage (prem babies at risk)
causes of communicating hydrocephalus (paeds)
failure to reabsorb CSF occurs from an insult to arachnoid villi
meningitis, subarachnoid haemorrhage
presentation of hydrocephalus (paeds)
enlarged head circumference
bulging of anterior fontanelle, distension of veins across scalp
late sign - sunsetting of eyes, upwards gaze limited
diagnosis of hydrocephalus (paeds)
cranial ultrasound or by MRI/CT
management of hydrocephalus (paeds)
insertion of ventriculoperitoneal shunt
complications of hydrocephalus (paeds)
raised intracranial pressure - lead to long term neurological deficits
Which bacteria is meningococcal infection caused by
caused by Neiseria meningitidis (gram neg intracellular diplococcus)
Causes of meningococcal infection
transmission by resp droplet spread
bacteria enters circulation, initiating inflammatory process leading to capillary leakage and intravascular thrombosis
presentation of meningococcal infection
meningococcaemia (septicaemia)
meningitis (lethargy, headache, fever, rigors, vomiting)
mixture of both, developing purpuric skin rash
hypovolaemic shock presents as; cold peripheries, poor cap refill, tachycardia, decreased urine output
Waterhouse-Friderichsen sydrome (rare): massive adrenal haemorrhage, septic shock
diagnosis of meningococcal infection
confirmed by blood or CSF cultures
PCR for Neisseria meningitidis highly sensitive
management of meningococcal infection
ealry abx - broad spectrum IV until pathogen confirmed
PICU admission if septic
notifiable diseases
Prevention of meningococcal infection
all household or close contacts should receive ciprofloxcin or rifampicin as post exposure prophylaxis
Other names of parvovirus B19
- fifth disease
- slapped cheek syndrome
- erythema infectiosum
Presentation of parvovirus B19
prodrome of fever, coryza, diarrhoea
diffuse ‘lace like’ rash across body with characteristic bright red rash on cheeks
complications of parvovirus B19
red cell aplasia
severe foetal anaemia
cardiomyopathy
What is DKA?
diabetic ketoacidosis. Medical emergency. Hyperglycaemia, acidosis, and ketonaemia,
What are the specific values in DKA to make tbe diagnosis?
ketonaemia: 3mmol/L and over
Blood glucose: >11mmol/L
Bicarbonate: <15mmol/L or venous pH <7.3
Causes of DKA?
infection, dehydration, fasting, or 1st presentation of T1DM
Presentation of DKA
smell of acetone on breath (fruity breath)
vomiting
dehydration
abdopain
hyperventiliation
hypovalaemic shock
drowsiness
coma
Investigations for DKA
blood glucose (>11.1mmol/L)
Blood ketones (>3mmol/L)
urea and electrolytes
blood gas analysis
urinary glucose and ketones
blood cultures (if evidence of infection)
cardiac monitoring/ECG
Management of DKA
if pt alert, not sig dehydrated and able to tolerate oral intake without vomiting - encourage oral intake and give subcut insulin
if pt vomiting, confused, sig dehydrated - IV fluids (10ml/kg 0.9% NaCl, insulin infusion 0.1 units/kg). if evidence of shock, initial bolus should be 20ml/kg.
What is the major complication of DKA?
cerebral oedema
Where is best place on a neonate to check pulse?
femoral and bracheal
Neonate: baby is blue, not crying, floppy, some felxing of four limbs, HR 140bpm. What is APGAR?
3
What is whooping cough/pertussis?
Severe URTI characterised by severe bouts of spasmodic coughin, which may lead to apnoea in infants
What’s causes for whooping cough/pertussis?
Bordetella pertussis (gram neg coccobaciliis)
Presentation of whooping cough/pertussis
- cough with prolonged period of coughing per episode
- inspiratory whooping
- rhinorrhoea
- post-tussive vomiting
- apnoeas
Management of whooping cough/pertussis
macrolides 1st line ( erythromycin, azithromycin or clarithromycin)
notifiable disease
Investigation for whooping cough?
PCR is most sensitive
When would you suspect whooping cough?
In child who didn’t receive all vaccinations as a baby, and presents with coughing episodes followed by gasping for air
What is rubella caused by?
rubella togavirus
When are children normally vaccinated for Rubella?
As part of MMR vaccine which starts at 12months old
Presentation of rubella
non-specific symptoms: fever, coryza, arthralgia, rash (typically starts on face then moves down trunk, sparing arms and legs). and Lymphadenopathy (post-auricular).
Dx of rubella
serological testing
Complications of rubella infection in unvaccinated pregnant women?
cataracts, deafness, patent ductus arteriosus, brain damage
What is encephalitis?
inflammation of encephalon or brain parenchyma
Clinical features of encephalitis
altered mental state, fever, flu-like prodromal illness, early seizures
Most common cause of encephalitis
herpes simplex virus type 1
Investigations for encephalitis
suspected in any pt with sudden onset behavioural change, new seizures, unexplained acute headache.
Routine blood tests, blood cultures, viral PCR.
Treatment for encephalitis
broad spectrum abx with 2g IV ceftriaxone BD and 10mg/kg acyclovir TDS for 2 weeks
Side effects of acyclovir
generalised fatigue/malaise
GI disturbance
photosensitvity and utricarial rash
acute renal failure, haem abnormalities, hepatitis, neurological reactions
What is impetigo and what is it caused by?
skin infection caused by staphylococcal and streoptococcal bacteria
Clinical features of impetigo
pruritic rash with discrete patches that have golden crusting
pts may be febrile
common in infants and school aged children
Management of impetigo
fusidic acid oral flucloxacillin
highly infectious, dont go school
What causes Scarlet fever?
streptooccus species
Presentation of scarlet fever
coarse red rash on cheeks, sore throat, fever, headache, ‘sandpaper’ texture rash, tongue appears bright red
Treatment for scarlet fever
abx - phenoxymethylpenicilin 10 days
Presentation of hand, foot and mouth disease
blisters on hands and feet, grey ulcerations in buccal cavity. usually preceded by 1 day hx of fever and lethargy.
common cause of hand, foot, mouth disease
coxsackie virus A16
Presentation of slapped cheek syndroem/ fifth disease/ Parvovirus B19
rash on both cheeks, fever
Presentation of measles
erythematous, blanching maculopapular rash all over body preceded by fever, cough, runny nose or conjunctivitis. Koplik spots
Complications of measels
pneumonia, encephalitis, immunosuppression and subacute scleorising panencephalitis
Presentaion of urticaria (hives)
raised, red itchy red rashes, associated with allergies or idiopathi.c. No fever
Urticaria (hives) management
antihistamines +/- steroids
Presentation of chicken pox
maculopapular vesicular rash that crust over and form blisters, itchy
Cause of chickenpox
varicella zoster virus (human herpes virus 3)
Tx of chickenpox
kept from school.
Features of roseola
lace-like rash across whole body with high fever
What causes roseola
human herpes virus 6
Presentation of septicaemia
rapidly developing non-blanching purpuric rash + lethargy, headache, fever, rigors, vomiting
Management of septicaemia
cultures taken, broad spectrum IV abx
senior paediatrician notified to review pt
Differentials of purpuric rash (other than septicaemia)
trauma
liver disease
drugs (anticoagulants)
vasculitis
thrombocytopenia
coagulopathy
malignancy
disseminated intravscualr coagulation (DIC)
if pt is seen in community and meningitis is suspected along side septicaemia, what should you do?
Give immediate intramuscular benzylpenicillin and send to hospital
14yr girl, developed erythematous maculopapular rash on chest, and has excoriatrions. Saw GP last week for sore throat, abdo pain and fever. was treated with bacterial tonsilitis with amoxicillin. What’s most likely cause of rash?
Morbiliform eruption
- characteristed by generalised maculopapular rash. Presented with symptoms of infectious mononucleosis before (not tonsilitis). Morbiliform reactions common in pts with infectious mononucleosis taking amoxicillin
Perianal/vulval itching, worse at night, no abnormalities on examination. Disease and treatment?
Threadworm, 1st line: oral mebendazole
What is acute otitis media?
common infection causing inflammation of the middle ear
What is acute otitis media?
common infection causing inflammation of the middle ear
Clinical features of otitis media
pain, fever, irritability, anorexia, vomiting
often occurs after a viral upper resp infection
Features of acute otitis media
deep seated pain, impaired hearing with systemic illness and fever
onset usually rapid, feeling of aural fullness followed by discharge when tympanic membrane perforates with relief of pain
features of crhonic secretory otitis media (glue ear)
presents as persistant pain lasting a couple of weeks after initial episode
drum looks abnormal and will show reduced mobility of membrane
Management of otitis media
- admit any children under 3 months with temp of 38 or more, or children with suspected complications (meningitis, mastoiditis, facial nerve palsy)
- consider admitting any child who is very systemically unwell
- otherwise treat pain and fever with paracetamol or ibuprofen
- most children will not require abx
offer immediate abx prescription to children systemically unwell who dont require admission or those at high risk of complications (immunocompromised pts)
what to do if suspected Complications of otitis media
important to assess and resus the pt and discuss with ent registrar
What are extra-cranial complications of otitis media?
facial nerve palsy - lower motor neuron lesion of VII cranial nerve (facial nerve)
Mastoiditis - inflammation spread to form abscess in mastoid air spaces of temporal lobe
Petrositis - infection spread to apex of petrous temporal bone, triad of sx: otorrhoea, pain deep inside ear and eye, ipsilateral VI nerve palsy
Labyrinthitis - inflammation of semicircular canals leading to sx of vertigo, nausea, vomiting and imbalance.
Intra-cranial complications of otitis media
meningitis - present with sepsis, headache, vomiting, photophobia, phonophobia
sigmoid sinus thrombosis - present with sepsis, swinging pyrexia and meningitis
brain abscess - sepsis, neurological signs due to compression of cranial nerves
Definition of intussusception
invagination of proximal bowel into a digital segment (commonly ileum) passing into caecum through ileocaecal valve
peak ages for intussusception
3 months - 2yrs old
Complications of intussusception
bowel perforation
peritonitis
gut necrosis
Presentation of intussusception
paroxysmal, severe colicky pain and the child characteristically draws up legs
lethargic
may refuse feeds
vomiting; bile stained
passage of red-jelly stool component of blood stained mucus
abdo distension
sausage-shape mass may be palpated
Abdominal USS findings for intussusception
target sign (cocentric echogenic and hypoechogenic bands
complications; free-abdominal air or presence of gangrene
mx of intussusception
1st line once stable: air enema (rectal air insufflation or contrast enema (only to be performed if child stable))
operative reduction indicated if:
- failure of non-operative management
- peritonitis or perforation present
- haemodynamically unstable
presentation of juvenile idiopathic arthritis (JIA)
systemic signs followed by joint pain
- fevers
- malaise
- salmon pink rash
- joint involvment
dx of juvenile idiopathic arthritis (JIA)
clinical once other differentials have been excluded; infections, malignancy, lupus
mx of juvenile idiopathic arthritis (JIA)
MDT input - chronic condition
psychological help aswell
NSAIDs
Steroids
Steroid sparing e.g methotrexate or biologicals such as TNF-a inhibitors
Complications of juvenile idiopathic arthritis (JIA)
flexion contractures
joint destruction
growth failure
anterior uvetitis
most appropiate 1st line mx for juvenile idiopathic arthritis (JIA) where 4 or fewer joints affected? (oligoarticular)
intra-auricular steroid injections; methlyprednisolone acetate
what is GORD children
passage of gastric contents into oesophagus
Presentation of GORD children
babies commonly present with:
- milky vomits after feed
- crying/irritability
- arching of back
- drawing up knees to chest
Mx of GORD children
keep baby upright post-feeds and burp after feeds
keep cot on slight incline
reassure parents that most cases will resolve as baby grows and the cardiac sphincter matures
medical mx for GORD children
gaviscon (infant formulation)
omeprazole
surgical mx ofGORD children
fundoplication
A 2 month old baby boy with DiGeorge syndrome is brought in to PAU by his worried mother due to his recent episodes of non-bloody and non-bilious vomiting which have been occurring regularly after most of his feeds. He is predominantly formula fed having been weaned at 6 weeks. The pregnancy and delivery were both uncomplicated and he was born at term. He has continued to feed as normal and no change has been noted in his bowel movements. He was born weighing 3.5 kg and now weighs 4.8 kg. Given the presenting history what is the most likely diagnosis?
gastro-oesophageal reflux
A 4 week old baby attends the GP with an upset mother. She reports that her breastfed baby is struggling to put weight on and is often distressed throughout the day. Her cry sounds hoarse and she occasionally coughs and vomits feeds. She often cries and arches her back during the day.
What initial step might help identify the cause for this child’s symptoms?
Probably GORD -
trial of alginate
What is nephrotic syndrome
clinical syndrome arises secondary to increased permeability of serum protein through a damaged basement membrane in renal glomerulus
Clinical features of nephrotic syndrome
proteinuria
oedema
hypoalbuminaemia
hyperlipidaemia
lipiduria
Pathophysiology of nephrotic syndrome
cytokines damage podocytes causing them to fuse together and destroy charge of the glomerular basement membrane
allows increased permeability to plasma proteins - causing massive protein loss in urine
serum albumin levels reduced
pts experience oedema because of less oncotic pressure
lets fluid leak into interstitium
liver tries to compensate by increased synthesis of lipoproteins - causing hyperlipidaemia
The most common cause of nephrotic syndrome in children
minimal change disease
- treat with steroids
Clinical presentation of nephrotic syndrome
periorbital and peripheral oedema
Investigations for nephrotic syndrome
bedside: urine dipstick (proteinuria) Raised albumin creatinine ratio
mx of nephrotic syndrome
high dose steroids
Complications of nephrotic syndrome
infection
venous thromboembolism
hyperlipidaemia
hypercholesteraemia
relapse
What is Henoch Schonlein purpura (HSP)
most common small vessel vasculitis in children
commonly affects 3-5yrs old
Presentation of Henoch Schonlein purpura (HSP)
Purpura or petechiae on buttocks and lower limbs (usually starts off urticarial, then becomes maculopapular and purpuric, Trunk is spared)
abdo pain
arthralgia
fever
nephritis (haematuria +/- proteinuria)
may be pyrexial
Commonly preceded by viral upper resp tract infection
Mx of Henoch Schonlein purpura (HSP)
NSAIDs analgesia
Antihypertensives for BP
Childen should have regular urine dips for 12 months to check renal impairment
How does ranitidine work?
H2 receptor antagonist
suppresses acid production and can reduce the volume of gastric contents
if a FeverPAIN score for tonsilitis is a 2, should you prescribe abx or prescribe delayed treatment abx?
delayed treatment - advise to use prescription if no improvement in symptoms in 3 to 5 days or if symptoms worsen
feverPAIN score of 4 or 5, would prescribe immediate abx prescription
Presentation of acute otitis media
pain, fever, irritability, anorexia, vomiting
Otoscope: red, bulging, tender tympanic membrane. No discharge/
What is naevus flammeus
port-wine stain
present from birth and grows with the infant
caused due to a vascular malformation of capillaries in dermis
laser therapy can be used as treatment
What is Hirchsprung’s disease
disease causing chronic constipation.
Back pressure of stool trapped in more proximal colon
Presentation of Hirchsprung’s disease
delay in passing meconium (>48hrs)
distended abdomen
forceful evacuation of meconium after digital rectal examination
How is Hirchsprung’s disease diagnosed?
Rectal suction biopsy
mx of Hirchsprung’s disease
removal of section of aganglionic colon and health bowel pulled through (Swenson procedure)
Define constipation in children
defecation less than 3 times a week or significant difficulty passing stool
Causes of constipation in children
pts diet - low fibre
dislike of using toilet
pain on passing e.g hard stool or anal fissure
no recognising sensation to pass stool
Mx of constipation in children
1st, movicol disimpaction regimen
followed by maitainence of movicol alongside high fibre diet and encouraging good toileting habits
What is immune thrombocytopenic purpura in children
ITP
autoimmune disease of unknown cause where number of circulating platelets reduced
Mx of immune thrombocytopenic purpura in children
watch and wait
most cases resolve in 3-6 months
Presentation and inx of immune thrombocytopenic purpura in children
follows viral infections
petechiae, and low platelets following viral infection, otherwise well
inx:
FBC, blood film, bone marrow (if atypical), further tests to exclude differentials (aplastic anaemia, leukaemia, thrombocytic thrombocytopenic purpura)
1yr old, 2/7 hx of irritability and fever, change in behaviour and reduced eating. Bilateral acute otitis media. Management?
1st line of bilateral acute otitis media under 2yrs - 5 day course of amoxicillin
2nd line - clarithromycin if penicilliin allergy
What is tetraology of fallot
rare congenital cardiac disease
cyanotic
comprises of:
1. ventricular septal defect (VSD)
2. Overriding aorta
3. right ventricular outflow tract obstruction
4. right ventricular hypertrophy
Presentation of tetraology of fallot
detection of murmur antenatally
cyanosis
babies: tet spells (acute episodes of cyanosis)
mx of tet spells (babies in tetraology of fallot)
emergency, can be fatal
acutely: lie baby on back and bend knee
O2 should be provided if in hospital
prophylaxis: propanalol
mx of tetraology of fallot
surgery
What are the features of Patau’s syndrome
caused by trisomy 13
holoprosencephaly
cleft lip and palate
microcephaly
polydactyly
congential heart disease
What is Turner’s syndrome
condition that affects only females
results when one of X chromosomes is missing or partially missing
Cause of Turner’s syndrome
XO karotype
45 XO
Presentation of Turner’s syndrome
short stature
lymphoedema of hands and feet in neonate
spoon shaped nails
webbed neck
widely spaced nipples
wide carrying angle
congenital heart defects - bicuspid aortic valve most common
delayed puberty
ovarian dysgenesis causing infertility
hypothyroidism
recurrent otitis media
normal intellect
Mx of Turner’s syndrome
growth hormone therapy
oestrogen replacement
complications of Turner’s syndrome
increased risk of cardiovascular disease specifically aortic stenosis and aortic dissection
What is sickle cell disease
red blood cells, autosomal recessive single gene defect in beta chain haemoglobin
sickled red blood cells clump together and obstruct blood flow and break down prematurely.
associated with anaemia
What are vaso-occlusive crisis
common in those with sickle cell
sickled red blood cells occlued vessels resulting in ischaemia
pain, recurrent episodes
acute chest syndrome - infarct of lung parenchyma
mx of vaso-occlusive crisis
strong pain relief (IV opiates)
O2 as required and IV fluids
treat any suspected infectionstop-up infusions may be needed
haem input
long term mx of sickle cell disease
top up infusions, folic acid, iron chelation
immunisations: flu, pneumococcal
prophylactic penicillin if asplenic
genetic counselling
Clinical features of Fanconi anaemia
pigmentation abnormablities, hearing defectsm renal abnormalities, solid tumours, short stature
What is haemophillia A
x linked recessive bleeding disorder caused be defiency in clotting factor VIII
Clinical features of haemophilia A and dx
deep, severe bleeding into soft tissues and joints and muscles
factor VIII assay
(bruising) ‘large, deep ecchymosis along the patient’s right thigh’
Mx of haemophillia A
desmopressin
major bleeds - recombinant factor VIII
What is haemophilia B
X linked recessive inherited bleeding disorder caused by defiency in clotting factor IX
What is Von Willebrand disease
most common inherited bleeding disorder
reduced quantity or function of von willebrand factor (VWF) leads to increased risk of bleeding
What does von willebrand factor normally do?
links platelets to exposed endothelium and stabalises clotting factor VIII
Clinical features of Von Willebrand disease
excess or prolonged bleeding from minor wounds
excess or prolonged bleeding post operatively
easy bruising
menorrhagia
epistaxis
GI bleeding
Investigations for Von Willebrand disease
decreased factor VIII activity
PT normal
APTT prolonged
Bleeding time prolonged
What is Immune thrombocytopenia
autoimmune disease of unknown cause
number of circulating platelets is reduced
investigations for Immune thrombocytopenia
FBC
blood film
bone marrow (only if atypical)
mx of Immune thrombocytopenia
steroids used in persistent cases
splenectomy may be considered in refractory cases
platelet transfusions should be avoided
watch and wait normally self resolves
What is wilms tumour
nephroblastoma
embryonic tumour from developing kindey
most common abdominal tumour in children
Presentation of Wilm’s tumour
abdo mass that doesn’t cross midline
abdo distension
haematuria
hypertension
dx of Wilm’s tumour
CT chest, abdoment and pelvis
renal biopsy diagnostic
mx of Wilm’s tumour
depends on staging
surgical options - nephroectomy, chemo, radio-therapy
Presentation of brain tumours in children
persistent headache, worse in morning
signs of raised intracranial pressure
seizure in older children with no fever and no previous hx of seizures
dx of suspect brain tumours in children
MRI / CT head
Presentation of retinoblastoma in children
white eye reflex (loss or normal red reflex)
features of patau’s syndrome
trisomy 13
holoprosencephal : failure of 2 cerebral hemispheres to divide; only one eye, a nose with single nostril
celft lip and palate
microcephaly
polydactyl
congenital heart disease
rare for these children to survive more than a few weeks
Features of Edward’s syndrome
trisomy 18
low set ears
micrognathia
microcephaly
overlappy 4th and 5th fingers
rocked bottom feet
congential heart disease
rare for these children to survive more than a few months
What is fragile X syndrome
CGG trinucleotide repeat in FMR1 gene on X chromosome
features of Fragile X syndrome
long face
large, protruding ears
intellectual impairment
macroorchidism (large testes)
social anxiety
autistic spectrum features
features of Fragile X syndrome
long face
large, protruding ears
intellectual impairment
macroorchidism (large testes)
social anxiety
autistic spectrum features
what is Prader Willi syndrome
genetic condition inherited by genomic imprinting
- deletion of either maternal or paternal copy
- inheritance of 2 copies from one parent and non from the other parent
Clinical features of Prader Willi syndrome
hypotonia and poor feeding in infancy
developmental delay in early childhood
learning disabilities
short stature
hyperphagia and obesity in older childhood
What defect is associated with Noonan syndrome
pulmonary stenosis
What defect is associated with down syndrome
atrioventricular septal defects (AVSD)
What defect is associated with foetal alcohol syndrome
ventricular septal defect
What defect is associated with DiGeorge syndrome
aortic arch defects
What defect is associated with Turner syndrome
bicuspid aortic valves and coarction of aorta
What defect is associated with Edwards syndrome
septal defects
What defect is associated with Patau syndrome
dextrocardia
What is Osteogenesis imperfecta
genetic disorder characterised by inadequate collgen formation in bones leading to fragile bones prone to fractures
Features of Osteogenesis imperfecta
BITE
bones
I - eyes
T - teeth
E- ears
What is Rickets
clinical manifestation of vit D defiency in children
presentation of Rickets
aching bones and joints
poor growth and development
delayed dentition
weakness
constipation
dx and mx of Rickets
low blood level of vit D
Vit D oral supplementation
what is Transient synovitis
benign cause of limp in children from inflammation of synovial lining of hip joint
Cause of Transient synovitis
viral infection (URTI) 1-2 weeks before pain and limp
Presentation of Transient synovitis
inflammtory reaction following viral infection
sx milder than those of septic arthritis
What causes septic arthritis and osteomyelitis in children
staphylococcus aureus, coagulase negative taphylococci
What causes septic arthritis and osteomyelitis in children
staphylococcus aureus, coagulase negative taphylococci
Risk factors for septic arthritis and osteomyelitis in children
diabetes
peripheral vascular disease
malnutrition
immunosuppression
maliganancy
Clinical features of septic arthritis and osteomyelitis in children
fever
pain
swelling
erythema of affected site
unable to weight bear
investigations for septic arthritis and osteomyelitis in children
bone biopsy/aspiration diagnostic
blood inflammatory markers
xray
blood cultures
mx for septic arthritis and osteomyelitis in children
ab min 4-6 weeks
flucloacillin plus fusidic acid/rifampcin
if allergic to penicillin give clindamycin
What is Perthes disease
avascular necrosis of femoral head in children aged 4-8
causes ischaemia
Presentation of Perthes disease
gradual onset of limp and hip pain
pain persisting over 4 weeks
dx of Perthes disease
xray hip - sclerosis and fragmentation of epiphysis
what is Slipped upper femoral epiphysis (SUFE)
most common hip disorder in adolescents
presentation of Slipped upper femoral epiphysis (SUFE)
hip pain and limp - acute or chronic adolescents
pain may be referred to knee
Reduced ROM on hip flexion
positive Trendelenburg gait
dx of Slipped upper femoral epiphysis (SUFE)
anterolateral and frog legs xray
mx of Slipped upper femoral epiphysis (SUFE)
surgical
what is Meconium aspiration
meconium in amniotic fluid (sign of foetal distress and hypoxia) travels into foetal lungs
What is meconium ileus
meconium thickens and causes obstruction of bowel in noenate
early sign of CF
presents as bilious vomiting, distended abdomen, failure to pass meconium in 12-24hrs life
bubbly appearance on xray
What is meconium ileus
meconium thickens and causes obstruction of bowel in noenate
early sign of CF
presents as bilious vomiting, distended abdomen, failure to pass meconium in 12-24hrs life
bubbly appearance on xray
mx: drip and suck
sx of Coeliac disease (paediatrics)
steatorrhoea
weight loss or failure to thirve
short stature and wasted buttocks
dermatitis herpetiformis
dx of Coeliac disease (paediatrics)
1st line: anti- TTG IgA antibody (blood test)
gold standard: OGD and duodenal/jejunal biopsy - sub-total villous atrophy, crypt hyperplasia, and intra-epithelial lymphocytes
mx of UTIs in children
Lower UTIs; nitrofurantoin
Upper UTIs: cephalosporin
A 6 month old boy presents to the GP with his mother. She is concerned because her son has developed a pruritic rash. On examination he has a dry, erythematous rash on his cheeks and the extensor aspects of both his elbows. He has previously been well and there are no concerns about his development. His mother reports also having pruritic rashes when she was young. Which of the following is the most likely diagnosis?
atopic eczema
- common in children to get on cheeks and extensor limbs
