Paediatrics Flashcards
What are the features of Patau syndrome (trisomy 13)?
- Microcephaly and small eyes
- Cleft lip/palate
- Polydactyly
- Scalp lesions
What are the features of Edward’s syndrome (trisomy 18)?
- Micrognathia
- Low set ears
- Rocker bottom feet
- Overlapping fingers
What are the features of Fragile X syndrome?
Trinucleotide repeat disorder causing:
- Learning difficulties
- Macrocephaly
- Long face
- Large ears
- Macro-orchidism
- Mitral valve proplapse
Diagnosis with chorionic villus sampling or amniocentesis
What are the features of Noonan syndrome?
- Webbed neck
- Pectus excavatum
- Short stature
- Pulmonary stenosis
What are the features of Pierre-Robin syndrome?
- Micrognathia
- Posterior displacement of tongue
- Cleft palate
NB - similar to Treachers Collins but TC is autosomal dominant
What are the features of Prader-Willi syndrome?
- Hypotonia
- Hypogonadism
- Obesity
What are the features of William’s syndrome?
- Short stature
- Learning difficulties
- Friendly, extroverted personality
- Transient neonatal hypercalcaemia
- Supravalvular aortic stenosis
What are the features of Cri du chat syndrome?
- Chromosome 5p deletion
- Characteristic cry due to larynx and neurological problems
- Feeding difficulties, failure to thrive
- Learning difficulties
- Microcephaly and micrognathism
- Hypertelorism (far apart eyes)
What are the features and complications of Down’s syndrome?
Features:
- Face: epicanthal folds, Brushfield spots, protruding tongue, small low set ears
- Flat occiput
- Single palmar crease
- Hypotonia
- Duodenal atresia
- Hirschsprung’s disease
Complications:
- CARDIAC!!!! - AV septal canal defects, VSD, tetralogy of Fallot, isolated patent ductus arteriosus
- Subfertility
- Learning difficulties
- Respeated respiratory infections
- ALL
- Hypothyroidism
- Alzheimer’s disease
- Atlantoaxial instability
- Otitis media and glue ear
What is the epidemiology of Down’s syndrome?
1/1000 at 30 years, then divide the denominator by 3 for every extra 5 years of age
What are the features of McCune-Albright syndrome?
- NOT inherited; due to a random, somatic mutation in the GNAS gene
- Precocious puberty
- Cafe-au-lait spots
- Polyostotic fibrous dysplasia
- Short stature
What are the features of Turner’s syndrome?
- Due to presence of only one sex chromosone (X) or deletion of short arm of one of the X chromosomes (45, X)
- Short stature, webbed neck, shield chest
- Bicuspid aortic valve and coarctation of the aorta
- Primary amenorrhoea
- Elevated gonadotrophin levels
- Horshoe kidney
- Increased risk of autoimmune disease
What is the Apgar score?
- A score used to assessed the health of a newborn baby at 1 and 5 minutes of age (if low repeat at 10 minutes)
- Looks at pulse, respiratory effort, colour, tone and reflex irritability
- 0-3 (very low), 4-6 (moderate low), 7-10 (good)
What is the purpose of the Heel Prick (Guthrie) test?
Performed at 5-9 days of life, screening for:
- Congenital hypothyroidism
- Cystic fibrosis
- Sickle cell disease
- Phenylketonuira
- MCADD
- Maple syrup urine disease
- Isovaleric acidaemia
- Glutaric aciduria type 1
- Homocystinuria
What is caput succedaneum and how is it managed?
- Oedema of the scalp at the vertex after birth
- Crosses suture lines
- No treatment needed, resolves in days
What is cephalohaeatoma and how is it managed?
- Swelling on head of a newborn that develops several hours after birth due to bleeding between periosteum and skull
- Commonly in parietal region, does not cross suture line
- Jaundice may develop as a coplication
- No treatment needed, may take months to resolve
What is an Epstein’s pearl and how is it managed?
- Congenital cyst found on the hard palate
- No treatment needed
- Will resolve in weeks
What is haemorrhagic disease of the newborn?
- Bleeding in neonates secondary to vitamin K deficiency
- All newborns given IM or oral vit K to prevent
What causes jaundice in the first 24h after birth?
ALWAYS PATHOLOGICAL
- Rhesus haemolytic disease
- ABO haemolytic disease
- Hereditary spherocytosis
- Glucose-6-phosphodehydrogenase
What causes jaundice in 2-14 days?
- Common and usually physiological
- Due to increased RBC and less developed liver function
- More common in breastfed babies
What causes jaundice after 14 days (or 21 days if premature)?
Must perform jaundice screen involving bilirubin, Coombs test, TFTs, FBC and blood film, urine, U&Es, LFTs
Causes:
- Biliary atresia > raised conjugated bilirubin, requires urgent surgical intervention
- Hypothyroidism
- Galactosaemia- inability to breakdown galactose
- Urinary tract infection
- Breast milk jaundice
- Prematuring
- Congenital infections eg. CMV, toxo
How does coeliac disease present and how is it diagnosed and managed?
Features:
- Associtated with HLA-DQ2 and HLA-DQ8
- Presents around 3y with failure to thrive, diarrhoea, distension, anaemia
Diagnosis:
- Jejunal biopsy shows subtotal villous atrophy
- Anti-endomysial and anti-gliadin antibodies to screen
Management:
- Gluten avoidance
How does Cow’s milk protein intolerance/allergy present and how is it diagnosed/managed?
Features:
- Presents in first 3 months of life in formula fed infants
- IgE and non-IgE mediated
- Regrugitation, vomiting, diarrhoea, atopy, colic sx, wheeze, angioedema
Diagnosis:
- Clinical with elimination diet
- Consider skin prick/patch
- Consider total IgE and specific IgE (RAST) for cow’s milk protein
Management:
1. Formulate fed - eHF or AAF milk
2. Breast fed - mum to eliminate cows milk
How does GORD present and how is it managed?
Features:
- Most common cause of vomiting in infancy
- Presnts as milky vomits and crying after feeding, before 8 weeks
- RF include preterm delivery and neuro disorders
Diagnosis:
- Clinical
Management:
- 30 degree head up during feeds
- Infants to sleep on their back
- Smaller and more frequent feeds
- Thickened formula and alignate therapy
- Specialists can initate medical therapy and fundoplication as last resort
What is pyloric stenosis and how is it diagnosed/managed?
Features:
- Presents in 2-4 weeks of life with projectile vomiting
- Due to hypertrophy of pyloric muscles
- Palpable mass may be present
- Low chlorine, low K acidosis due to vomiting
Diagnosis:
- Ultrasound
Management:
- Ramstedt pyloromyotomy
What are the red flag features for constipation in childhood?
- Reported from birth/first few weeks of life
- Passage of meconium >48h
- Ribbon stools
- Faltering growth
- Weakness in legs
If no red flags can diagnose idiopathic constipation
How is constipation managed in children ?
If faecal impaction present:
1. Movicol paediatric plain (polyethylene glycol 3350 and electrolytes)
2. Add stimulant if no disimpaction after 2 weeks
Maintenance therapy:
1. Movicol paediatric plain
2. Add stimulant if no response or substite if not tolerated
3. Add lactulose/docusate if still hard
Do not use dietary intervention alone as first line treatment
How is constipation managed in infants?
Not yet weaned (<6m):
Bottle fed - give extra water in between feeds, gentle abdominal massage
Breast fed - consider organic causes
Weaned:
Offer extra fluids
Consider lactulose
What is Hirschsprung’s disease and how is it diagnosed and managed?
Features:
- Caused by aganglionic segment of bowel due to plexus development failure
- Result is uncoordinated peristalsis and functional obstruction
- Assoc with Down’s syndrome
Diagnosis:
- Rectal biopsy is GOLD STANDARD
Management:
1. Rectal washouts and bowel irreigation
2. Will need definitive surgery to affected segment of colon
What are the main causes of diarrhoea in children?
Acute:
1. Gastroenteritis - usually due to rotavirus
Chronic:
1. Cow’s milk intolerance
2. Coeliac disease
3. Post gastroenteritis lactose intolerance
What is intussusception and how is it diagnosed/managed?
Features:
- Invagination of one portion of bowel into the lumen of adjacent bowel (usually ileo-caecal region)
- Presents as crampy abdominal pain, vomiting ,redcurrent jelly and sausage shaped mass in RUQ
Diagnosis:
- Target like mass on USS
Management:
- Recution by air insufflation
- If fails or peritonitic, surgery
What is Meckel’s diverticulum and how is it diagnosed/managed?
Features:
- Congenital diverticulum of the small intestine
- Presents as abdominal pain, rectal bleeding and obstruction
Diagnosis:
- Meckels scan and mesenteric arteriography
Management:
- Remove if narrow neck or symptomatic, via wedge excision or small bowel resection and anastomosis
What is gastroschisis and exomphalos?
GASTROSCHISIS:
- Congenital defect in the anterior abdominal wall just lateral to the umbilica cord
- Newborns should go to theatre ASAP after delivery
EXOMPHALOS:
- Congenital defect in which the abdominal contents protrude through the anterior abdominal wall but are covered by the amniotic sac
- Associated with some syndromes
- C-section to reduce rupture risk
- Staged repair
What is necrotising enterocolitis?
- Leading cause of death among premature infants
- Presents with feeding intolerane, abdominal distension and bloody stools
- AXR shows dilated bowel loops, oedema, intramural gas, pneumoperitoneum, Wiglers signs, football sign
Management:
- Gastric decompression with NG tube
- Intravenous antibiotics
- Surgical if failure
What are the features and management of acute epiglottitis?
Features:
- Causes by Haem influenza type B
- Presents with high tempearture, stridor, drooling and tripod position
Diagnosis:
- By direct visualisation
- Can see thumb sign (swelling of epiglottis) on XR
Management:
- DO NOT EXAMINE THROAT
- Immediate ENT/anaesthetics referral +/- endotracheal intubation
- Oxygen and IV ceftriaxone/cefuroxime
How is asthma managed in children aged <5?
- SABA
- SABA + 8 week trial moderate dose ICS (then start low dose maintenance)
- SABA + paediatric low dose ICS + LRTA
- Stop LRTA and refer to specialist
How is asthma managed in children aged 5-16?
- SABA
- SABA + paediatric low dose ICS (<200 budesonide)
- SABA + paediatric low dose ICS + LRTA
- SABA + paedatric low dose ICS +LABA
- SABA + maintenance and reliever therapy (MART)
- SABA + moderate dose MART (200-400 budesonide)
- SABA + high dose ICS (>400 budesonide)/add theophylline/specialist referral
What is MART?
A form of combined ICS and LABA treatment which is used for both maintenance therapy and symptom relief
How do you manage a moderate asthma attack?
- Give 1 puff SABA every 30-60 seconds through a spacer up to 10 puffs
- Repeat and refer to hospital if ongoing sx
- 3-5d steroid therapy
Steroid dose:
2-5yo - 20mg OD
>5yo - 30-40mg OD
How do you manage a severe/lifethreatening asthma attack?
If poor response to SABA and steroids:
1. Iptratropium bromide and SABA nebs
2. Consider nebulised magnesium sulfate
3. Refer to HDU/ICU for IV salbutamol/Mg/aminophylline
- After discharge, GP must be informed within 24h and child must be reviewed within 2 days
- If severe attack, follow up under resp for 1 year minimum
- If near fatal, should be under specialist indefinitly
What are the features and management of bronchiolitis?
Features:
- Coryzal symptoms incl dry cough
- Usually due to RSV infection
Management:
- Hospital if RR>60, unable to feed, dehydrated
- 999 if apnoeic, severe respiratory distress, central cyanosis, oxygen <92%, RR>70
- SUPPORTIVE management
What are the features and management of croup?
Features:
- Stridor, barking cough and fever
- Peak incidence 6m to 3y
- Usually due to parainfluenza virus
Management:
- CXR if modeate or severe; will show steeple sign
- Admit if <6m, known upper airway abnormalities, uncertainty about diagnosis
- Single dose oral dexamethasone to all children
- May need high flow oxygen and neb adrenaline
What are the features and management of cystic fibrosis?
Features:
- Autosomal recessive disorder causing increasing viscosity of secretions
- Due to defect in CFTR gene which encodes a chloride channel
- Usually due to delta F508 on chromosome 7
- Presents with malabsoprtion and recurrent chest infections due to staph aureues/pseudomonas aeruginosa
Management:
- Mucolytics (dornase alfa)
- Mannitol and hypertonic NaCl are second line
- Flucloxacillin and neb colistimethate prophlaxis against staph and pseudo
- Specialist physiotherapy
- Consider long term azithromycin
- Pancreatin for malsbroption
What is transient tachypnoea of the newborn?
- Common cause of respiratory distress in newborn, particularly post C-section
- Due to delayed resorption of fluid in the lungs (think HF for babies)
- CXR shows hyperinflated lungs and fluid in horizontal fissure
- Management is supporitve
What is surfactant deficient lung disease?
- Respiratory distress secondary to insufficient surfactant production and structual immaturity in premature babies
- Other RF include diabetic mother, c-section, male sex
- CXR shws ground glass appearance
- Prevent with maternal corticosteroids during pregnancy
- Manage with oxygen, assisted ventilation and exogenous surfactant via ET tube
What are the features/diagnosis/management of whooping cough?
Features:
- Viral URTI sx followed by cough and inspiratory whoop for 2-8 weeks
- Due to gram-negative bacteria Bordetella pertussis
Diagnosis:
- Nasal swab/PCR and serology
Management:
- Admit if under 6 months
- Oral macrolide (-mycin) if cough onset within 21d
- Antibiotic prophylaxis to contacts
- Notifiable disease
- Schoole xclusion for 48h after commencing anitbiotics
