Paediatrics Flashcards
What is Kernig’s Sign?
Pain on leg straightening
What is Brudzinski’s sign?
Supine neck flexion resulting in Knee/hip flexion
What are the clinical manifestations of meningitis?
Bulging fontanelle, hyperextension of the neck and back (opisthotonos)
-Headache, photophobia, neck stiffness, fever
What is Cushing’s Triad?
- High Blood Pressure
- Low heart rate
- Irregular Respiratory Rate
What is the routine first-line diagnostic investigation for meningitis if there are no signs of raised ICP?
Lumbar puncture
What ABx is prescribed to children <3 months with meningitis?
IV Cefotaxime
IV Amoxicillin/ampicillin
Which type of abnormal cell is characteristic of Hodgkin’s lymphoma?
Reed-Sternberg Cells
What B symptoms are associated with Hodgkin’s lymphoma?
-Fever (Pel-Ebstein) for 3 consecutive days
-Weight Loss
-Pruritus
-Night sweats
What is the clinical presentation of Hodgkin’s lymphoma?
- B symptoms
- Lymphadenopathy - painless non-tender cervical/supraclavicular, asymmetric
-Alcohol-induced - Medistinal mass
What is the diagnostic investigation for Hodgkin’s lymphoma?
Excisional lymph node biopsy
What does a CXR reveal in Hodgkin’s lymphoma?
Mediastinal disease burden + hilar lymphadenopathy
What does FBC with differential show in Hodgkin’s lymphoma?
- Low Hb and platelets
- Eosinophilia
- Raised LDH
What are Reed-Sternberg cells?
Multinucleated cells (with bilobed nucleus and prominent eosinophilic inclusion-like nucleoli)
What investigation is used to stage Hodgkin’s lymphoma?
PET-CT scan to assess progression and staging
What chemotherapy regimen is initiated for Hodgkin’s lymphoma?
Doxorubicin, bleomycin, vinblastine and dacarbazine (administered intravenously).
What is bronchiectasis?
Abnormal bronchial dilatation secondary to recurrent infections
What is the leading cause of bronchiectasis?
Cystic fibrosis
What is the leading cause of bronchiectasis?
Cystic fibrosis
What is the clinical manifestation of bronchiectasis?
-Chronic wet/productive cough
-Recurrent infections - >3 episodes of protracted bacterial bronchitis
-Haemoptysis
-Dyspnoea
What is the clinical manifestation of bronchiectasis?
-Chronic wet/productive cough
-Recurrent infections - >3 episodes of protracted bacterial bronchitis
-Haemoptysis
-Dyspnoea
What are the physical findings associated with bronchiectasis?
- Crackles
-Digital clubbing
-Chest rhonchi and wheeze
-Hyperinflation, Harrison sulci, pectus carinatum
What feature is observed on chest radiograph in a paediatric patient with bronchiectasis?
Tram track appearance
What is the gold standard diagnostic investigation for paediatric bronchiectasis?
HRCT + Multidetector CT
What is the gold standard diagnostic investigation for paediatric bronchiectasis?
HRCT + Multidetector CT
What is observed on HRCT in bronchiectasis?
- Increased bronchoarterial ratio
- Signet ring sign
- Bronchial wall thickening
What type of pattern is observed in spirometry in a patient with bronchiectasis?
Obstructive pattern (Reduced FEV1, normal FVC)
What type of pattern is observed in spirometry in a patient with bronchiectasis?
Obstructive pattern (Reduced FEV1, normal FVC)
What investigations should be performed in a paediatric patient with bronchiectasis?
HRCT + Multidetector CT
Spirometry
Sweat chloride testing
Screeing for antibody deficieincy
What 2 screening investigations should be performed in a patient with bronchiectasis?
Sweat chloride testing - CF
Antibody deficiency - IgG, IgM, IgA
What is the first-line ABx therapy for bronchiectasis (aged 1 month - 11 years)?
Amoxicillin or Clarithromycin
For patients aged 12-17 years, what Oral ABx should be prescribed in bronchiectasis?
Doxycycline
What IV ABx is administered for severely unwell patients with bronchiectasis?
Co-amoxiclav
Pipieracillin and tazobactam
What is the management strategy for paediatric bronchiectasis?
Chest physiotherapy
Antibiotic therapy
Inhaled hypertonic saline for high sputum load
What vaccinations should be offered in bronchiectasis?
Streptococcus pneumonia
Seasonal influenza
What is Epiglotitits?
Inflammation of the epiglottis and adjacent supraglottic structures
It is a life-threatening obstruction
What is the most common causative pathogen for Epiglottitis?
Haemophilusinfluenzae type B
What is the characteristic voice associated with Epiglottitis?
Hot potato voice - muffled
A tripod position with drooling and a muffled voice is associated with what diagnosis?
Epiglottitis
What is the clinical presentation of Epiglottitis?
Irritability, fever, dysphonia (‘hot potato voice’), and dysphagia
Respiratory distress with tripoding (child sitting up, leaning forward, neck hyperextended and bracing upper body)
Drooling/increased oral secretions
Tachycardia and tachypnoea
Oedematous and cherry-red epiglottis
Absence of cough
Anxiety
Fever > 38.8-40.0°C
Stridor
Due to airway obstruction
What is the first-line management for Epiglottitis?
Endotracheal intubation
Immediate ENT and anaesthetics referral + 100% inspired oxygen
What radiological sign is observed in Epiglottitis?
Thumb sign
What ABx is administered in Epiglottitis?
3rd generation cephalosporins - ceftriaxone for 7-10 days.
What prophylaxis should be offered to close contacts in Epiglottitis?
Rifmapicin
What is the most common causative organism in bronchiolitis?
RSV
What is the clinical presentation of bronchiolitis?
Fever - <38.3°C
Cough
Respiratory distress
Increased RR, retractions, wheezing, crackles
Preceded by 1-3 day Hx of symptoms of URTI (Nasal congestion, rhinorrhoea)
Rapid onset of wheezing
Irritability, malaise, and poor feeding
TYPICALLY RESOLVES within 2 WEEKS.
When is an urgent referral indicated in bronchiolitis?
Apnoea
The child looks seriously unwell
Severe respiratory distress
Grunting, marked chest recession or a RR > 70 breaths/minute
What is the diagnostic investigation for bronchiolitis?
Immunofluorescence of nasopharyngeal secretions –> RSV
What is the management for non-severe bronchiolitis?
Oxygenation and hydration
Humidified oxygen via a headbox if Spo2 <92%
Nasogastric feeding if cannot tolerate feed by mouth
Paracetamol > 3 years
What is the management for severe bronchiolitis?
Trial of inhaled bronchodilator
Nebulised hypertonic saline
CPAP for impending respiratory failure
Intravenous fluids
What RSV prophylaxis should be administered in high-risk preterm infants?
palivizumab
Projectile non-bilious vomiting occurring 30 minutes post-feed is associated with what diagnosis?
Pyloric stenosis
What type of alkalosis is associated with pyloric stenosis?
Hypercholraemic alkalosis - due to a loss of gastric acid
What palpable mass is observed in pyloric stenosis?
Olive-like mass
What is the diagnostic investigation indicated in pyloric stenosis?
Ultrasound - direct visualisation of pyloric muscle
- >3mm
>15 mm length
What is the definitive management of pyloric stenosis?
Surgical pyloromyotomy (Ramstedt)
- Can be open or laparoscopic
What pre-operative management is indicated for pyloric stenosis?
- Pre-operative fluid and electrolyte therapy to correct electrolyte disturbance.
- 0.45% Saline + 1.5x Maintenance rate with 5% dextrose
What is included in the 6 in 1 vaccine?
Polio, whooping cough, Haemophilus influenzae type B, diphtheria, tetanus and hepatitis B
What vaccines are administered at 2 months?
6 in 1 Vaccine
Oral rotavirus vaccine
Men B
What vaccines are administered at 3 months?
6 in 1 Vaccine
PCV - Pneumococcal (13 serotypes)
Rotavirus
How many serotypes are included in the PCV vaccine?
13
When is the PCV vaccine administered in infants?
12 weeks
What vaccines are administered at 4 months (16 weeks)?
6 in 1
Men B
What vaccines are administered at 12-13 months?
Hib/Men C
MMR
PCV
Men B
When is the MMR vaccine is administered?
1 year
When is the HPV (Gardasil) vaccine administered?
12-13 years - 2 doses 6-24 months apart.
What are the contraindications to vaccination?
- Acute febrile illness
- Egg allergy - Influenza, yellow fever, and tick born encephalitis
- Previous anaphylaxis to vaccine containing ro constituent antigens/components
- Immunocompromised
What is the definitive management of biliary atresia?
Kasai hepatoportoenterostomy
- with ABx cover for the first year of life.
What is administered for biliary atresia post-Kasai HPE?
Choleretics - Ursodeoxycholic acid - to promote bile flow.
Nutritional supplementation - medium chain triglyceride formula
Fat-soluble vitamin
Which ABx is prescribed in a patient with bacterial meningitis < 3 months?
IV amoxicillin + cefotaxime
Management of bacterial meningitis >3 months?
IV Ceftriaxone
Management of bacterial meningitis in primary care?
IM Benzylpenicillin + arrange emergency transfer to secondary care centre.
What follow-up is required post-meningitis?
Auditory assessment within 4 weeks after discharge
What prophylactic ABx should be prescribed to close meningitis contacts?
Ciprofloxacin
What is the causative organism of pertussis?
Bordetella pertussis (Gram-negative)
When is the pertussis immunisation?
2,3,4 months (as part of the 6 in 1 vaccination schedule) + 3-5 years.
- Paroxysms of coughing
- Inspiratory whoop
- Post-tussive vomiting.
- Apnoea, with or without cyanosis.
What is the most likely diagnosis?
Pertussis
What is the first stage of pertussis?
Catarrhal stage
-Viral upper respiratory tract infection symptoms:
-Low-grade fever, cough gradually increases, coryza
-Most. infectious stage
What is the paroxysmal stage of pertussis?
Coughing spells increase in severity
Gagging, breathlessness
Sweating episodes between paroxysms
Bothersome at night
What is the first-line investigation for pertussis?
Nasal swab culture for Bordetella pertussis - nasopharyngeal aspirate or swab
(Suitable for all age groups <21 days of cough duration)
What is the gold-standard investigation for pertussis?
PCR and serological testing
What are the admission criteria for pertussis?
Admit:
1. Significant breathing difficulties – apnoea episodes, severe paroxysm, or cyanosis.
2. Low threshold for children <6 months
3. Significant complications – pneumonia or seizures.
What is the age threshold for admission in a paediatric patient presenting with whooping cough?
< 6 months
What class of ABx is prescribed in pertussis?
Macrolide (cough within 21 day duration).
Which macrolide is prescribed for pertussis?
Clarithromycin for infants <1 month of azithromycin aged >1 year
What is the school exclusion protocol for pertussis?
Children are to return to school having completed 48 hours of Abx management.
What are the three major risk factors for bronchopulmonary disorder?
- Less than 28 weeks’ gestation
- IUGR infants
- Chorioamnionitis – Increases risk of developing a systemic inflammatory response.
What is the presentation of bronchopulmonary disorder?
- Breathing difficulties and is oxygen-dependent.
- Poor growth
- Feeding problems
What CXR changes are present in bronchopulmonary dysplasia?
Hyperinflation, cystic changes and streaky infiltrates
What prophylactic measure is necessitated for BPD?
Corticosteroids for suspected/established preterm labour (<34 weeks).
What respiratory support is indicated in BPD?
High flow oxygen via a nasal cannula or if >2L/min - humidified oxygen
CPAP
Invasive ventilation + prescribe surfactant
What medications are prescribed in BPD?
- Dexamethasone – If > 8 days and on ventilator
- Caffeine criteria – If <30 weeks corrected gestational age
- Consider if preterm and apnoeic
- Nitric oxide
- Only if pulmonary hypoplasia or pulmonary hypertension
When is dexamethasone prescribed in BPD?
If >8 days and on ventilator
When is caffeine prescribed in BPD?
In preterm and apnoeic patients
OR
<30 weeks corrected gestational age
What is PPHN?
Persistent Pulmonary Hypertension of the Newborn
PPHN occurs when pulmonary vascular resistance remains abnormally elevated after birth.
* Resulting in right-to-left shunting of blood through foetal circulatory pathways.
- Associated with hypoxic-ischaemic encephalopathy, meconium aspiration and RDS.
What are the risk factors for PPHN?
- Maternal diabetes
- Maternal obesity
- Advanced maternal age
- In utero exposure of SSRIs
- Meconium-stained amniotic fluid
- Prolonged premature rupture of membranes
Which vessel does blood bypass pulmonary circulation in PPHN?
Ductus arteriosus (resulting in a right-to-left shunt)
What is the clinical presentation of PPHN?
Presentation within the first 24 hours of life with signs of respiratory distress:
* Tachypnoea
* Retractions
* Grunting
* Cyanosis
* Meconium staining of skin and nails.
- Indicative of intrauterine stress.
Cardiovascular examination
* Prominent precordial impulse
* Narrowly split and accentuated S2
What monitoring investigation is indicated in PPHN?
Pre- and post-ductal oxygen saturation
- A difference >10% indicates PDA right-to-left shunting.
What is the diagnostic investigation to confirm PPHN?
Echocardiography
What is the management support for PPHN?
- Oxygen
- Maintain high PO2 (10-13 kPa in infants born >34 weeks’ gestation).
- Ventilation
- Intubate
- High-frequency oscillatory ventilation
- Minimise handling
- Surfactant – To optimise lung function
- Suction of secretions from ETT
- Fluids and inotropes – to optimise cardiac output
- Inhaled nitric oxide.
What is the most common cause of respiratory distress in newborns?
TTN
What are the 3 major risk factors for TTN?
- Caesarean section
- Maternal diabetes
- Maternal asthma
What is the pathophysiology of TTN?
Characterised by pulmonary oedema resulting from delayed resorption and clearance of foetal alveolar fluid.
* Reduced pulmonary compliance –> Compensatory tachypnoea.
* Fluid accumulation in the peribronchiolar lymphatics and interstitium –> Partial collapse of the bronchioles.
What is the time of onset for TTN?
Between time of birth and two hours post-delivery
What are the features of respiratory distress?
- Nasal flaring
- Expiratory grunting
- Cyanosis
- Subcostal and intercostal retractions
- Tracheal tug
- Increased anterior-posterior diameter of the chest.
What features are revealed on CXR in TTN?
Fluid in horizontal fissure + hyperinflation
When does TTN resolve?
12-24 hours
What are the target O2 sats in TTN?
> 94%
What are the indications for nutritional support in TTN?
RR is 60-80 breaths per minute
What are the indications for prescribing Ampicillin + gentamicin in TTN?
If tachypnoea persists >4-6 hours
What ABx are prescribed if TTN lasts >4-6 hours?
Ampicillin + gentamicin
What radiographic sign is observed in a lateral neck radiograph in epiglottitis?
Thumb sign
What is the most common causative organism for bronchiolitis?
RSV
What criterions are associated for admitting a patients with bronchiolitis?
- Apnoea – Observed or reported
- Persistent SpO2 <92% in RA
- Inadequate fluid intake (50-70% normal)
- Features of severe respiratory distress
- RR >70 breaths per minute
-Cyanosis
What is the diagnostic investigations for RSV?
Immunofluorescence of nasopharyngeal secretions RSV
- + Rapid antigen testing
Which type of infection is associated with Hodgkin’s lymphoma?
Epstein-Barr virus
Which type of cell is associated with Hodgkin’s lymphoma?
Reed-Sternberg Cells
What is the most common type of Hodgkin’s lymphoma?
Nodular Sclerosis
What is the peak incidence of ALL?
2-5 years of age
What WBC is a poor prognostic factor for ALL?
> 2 X 109/L at diagnosis
What are the poor prognostic factors for ALL?
- Age <2 years or >10 years
- WBC > 2 x109/L at diagnosis
- T or B cell surface markers
- Non-Caucasian
- Male sex
What type of cell is associated with ALL?
Lymphoid progenitor cells
What are the clinical features associated with ALL?
Bone Marrow Failure
1. Thrombocytopenia
- Bruising and petechiae
2. Anaemia
- Pallor, fatigue
3. Neutropenia
- Fever, and frequent infections
Lymphadenopathy
Hepatosplenomegaly
* Anorexia, weight loss, abdominal distension, and abdominal pain
Musculoskeletal pain – Limp or refusal to bear weight.
Testicular swelling – A persistent, painless, solid testicular mass
What is the first-line investigation for ALL?
FBC with differential
Peripheral blood smear
What is the gold-standard diagnostic investigation for ALL?
Bone marrow aspiration and trephine biopsy
What is the diagnostic result on bone marrow aspiration in ALL?
> 20% lymphoblasts
Which gene is associated with Burkitt lymphoma?
MYC gene on chromosome 8
What is endemic Burkitt lymphoma associated with?
Equatorial Africa and New Guinea - with jaw or facial bone tumours
What are the two types of Burkitt lymphoma?
- Endemic
- Sporadic
Clinical presentation of endemic Burkitt lymphoma?
- Jaw or facial bone tumour
- Involves the mandible or maxilla
- Extranodal sites: Mesentery, ovary, testis, kidney, breast and meninges.
Clinical presentation of sporadic Burkitt lymphoma?
Sporadic
Abdominal presentation
* Ascites
* Ileo-caecal tumours
* Mimic acute appendicitis
* ~25% involve jaw or facial bones
* Localised lymphadenopathy
What syndrome is associated with Burkitt Lymphoma?
Spontaneous tumour lysis syndrome
-Raised serum lactate dehydrogenase and uric acid
What is revealed on histological examination of Burkitt lymphoma?
Starry Sky Appearance
Medium-sized cells with basophilic cytoplasm and a high Ki67 fraction
What is the induction regimen for ALL?
- Prednisolone or Dexamethasone
- Cyclophosphamide
- Vincristine
- Doxorubicin
- L-asparaginase
What drug is prescribed to prevent cardiotoxicity from doxorubicin?
Dexrazone
What tyrosine kinase inhibitor is indicated in ALL, Philadelphia chromosome-positive patient?
Imatinib
What prophylactic is prescribed to ALL patients at risk of febrile neutropenia?
CSF - Filgrastim
How should anaemia be treated in ALL prior to management?
Blood transfusions
What prophylaxis should be prescribed to prevent tumour lysis syndrome in ALL?
Allopurinol
Rasburicase
What is the CNS prophylaxis in ALL?
Intrathecal methotrexate
What is the management of TLS in Burkitt’s?
Management of tumour lysis syndrome
* Rasburicase – Recombinant version of urate oxidase.
What is the management of Burkitt’s lymphoma?
Chemotherapy
CODOX-M with IVAC
* Cyclophosphamide
* Vincristine
* Doxorubicin
* High-dose methotrexate
* Ifosfamide, cytarabine, etoposide and intrathecal methotrexate.
What type of hypersensitivity is associated with immune thrombocytopenia?
Type 2 hypersensitivity
What is the common presentation of Meckel diverticulum?
- Symptomatic
- Intermittent painless lower GI bleeding Excision of the diverticulum with blood transfusion
- Obstruction Excision of diverticulum and lysis of adhesions
- Perforation/peritonitis Laparoscopic excision of the diverticulum or small bowel segmental resection with perioperative antibiotics.
o Cefotaxime, clindamycin/metronidazole
What is the diagnostic investigation for Meckel Diverticulum?
Meckel’s scan (Technetium-99m Scan).
- Reveals ectopic focus or hot spot
What is the most common symptomatic presentation of Meckel Diverticulum?
Intermittent painless lower GI bleeding
What is the pathogenesis of Intestinal malrotation?
Fibrous bands called ‘Ladd bands’ tether the caecum to the RUQ, and these cause intestinal obstruction by compression of the duodenum.
What is the most common complication with intestinal malrotation?
Volvulus
What is the characteristic presentation of intestinal malrotation?
Presents in the first few days of life.
* Bilious vomiting – dark green vomiting Urgent gastrointestinal contrast study to assess intestinal rotation.
* Abdominal pain
* Signs of vascular compromise
* Scaphoid abdomen (concave)
What type of vomiting is associated with intestinal malrotation?
Bilious vomiting - dark green.
What is the most urgent investigation performed for intestinal malrotation?
Upper GI contrast study
What findings are revealed in an upper GI contrast study?
Right-sided duodenum
Bird-beak cut-off
Corkscrew
What does a plain abdominal X-ray reveal in intestinal malrotation?
Distended stomach and proximal duodenum with a paucity of bowel gas seen distally.
What surgical procedure is corrective for intestinal malrotation?
Ladd’s procedure
Where is the maximal tenderness point in Appendicits?
McBurney’s point
What does an FBC reveal in appendicitis?
Leuckocytosis
What clinical scoring system is used to assess paediatric appendicitis?
PAS > 7 or 8 - high risk - surgical consultation
What investigation is performed in children with an atypical presentation of appendicits?
Abdominal ultrasound
What are the risk factors for perforation in appendicits?
- Abdominal pain >48 hours
- WBC >18 micro/mol
- Raised CRP
- Appendicolith present on imaging
- Appendix diameter >1.1 cm on imaging
What is the pre-operative management for appendicitis?
– Nil-by-mouth from the time of diagnosis
* Intravenous hydration + analgesia
* Consider prophylactic IV ABx (cefoxitin, ampicillin, piperacillin/tazobactam)
What is the definitive management for appendicitis?
Perform appendectomy without delay – open/laparoscopic.
* With peritoneal lavage, if perforation
* In complicated appendicitis e.g., with perforation, abscess, appendix mass present:
- If there is generalised guarding consistent with perforation IV fluids, and Abx prior to laparotomy.
What is the presentation of biliary atresia?
Infants are born full term, have a normal birth weight and initially thrive.
* Jaundice (Birth-8 weeks).
- Scleral icterus
- Jaundice extends beyond the physiological two weeks
* Alcoholic stool
- Range in colour from white to tan or light yellow
* Dark urine
- Bilirubin excretion into the urine
* Bruising
- Secondary to Vitamin K deficiency related to chronic cholestasis.
What is the gold-standard investigation for biliary atresia?
Abdominal ultrasound
What does an abdominal ultrasound reveal in biliary atresia?
- Absence of gallbladder, irregular morphology, polysplenia
- Triangular cord sign
What is the definitive management for biliary atresia?
A Kasai Hepatoportoenterostomy (HPE) to restore bile flow from the liver to the proximal small bowel.
- 2nd line: Liver transplantation following unsuccessful HPE or at presentation infants have end-stage liver disease.
What is the most common site of Intussusception?
Ileocolic Intussusception
What is the presentation of Intussusception?
Sudden onset of intermittent, severe, crampy, progressive abdominal pain.
- Associated with inconsolable crying + pallor.
- Drawing up of the legs toward the abdomen, often pallor.
- Episodes last ~ 15–20-minute intervals
- Inter-episode free pain.
- Vomiting – Bilious emesis as intestinal obstruction progresses.
- Sausage-shaped abdominal mass
- Palpated in the RUQ
- Redcurrant jelly stools/blood per rectum
What is a late sign of Intussusception?
Redcurrant jelly stools
What type of mass is palpated in Intussusception?
Sausage-shaped abdominal mass
What age group is commonly affected by Intussusception?
3-12 months
What is the diagnostic investigation for Intussusception?
Ultrasound
What ultrasound sign is observed in Intussusception?
Target sign
What is the definitive first line management for Intussusception?
Pneumatic pressure or saline/contrast enema under fluoroscopic/US guidance respectively
What is the second line management for Intussusception?
Surgical reduction using immediate laparotomy with broad-spectrum antibiotics (clindamycin + gentamicin).
Which age group is predominantly affected by bilious vomiting?
3-6 week old infants
MALES 5:1
What is the characteristic presentation of pyloric stenosis?
- Projectile non-bilious vomiting
- Progressively more forceful over time
- Typically occurs ~30 minutes post-feeding
- Difficulty feeding
o Multiple formula changes - Constipation and dehydration
- Dry mucous membranes
- Decreased wet nappies
- Tachycardia
- Hypochloraemic alkalosis– Due to loss of gastric acid
- Palpable olive-like mass
- Strong appetite
What type of alkalosis is observed in pyloric stenosis?
- Hypochloraemic alkalosis
What type of mass is palpable in pyloric stenosis?
Olive-like mass
What is the definitive management for pyloric stenosis?
Surgical pyloromyotomy (Ramstedt)
- Can be open or laparoscopic
What is the diagnostic investigation for pyloric stenosis?
Ultrasound – Direct visualisation of pyloric muscle and canal.
- Diagnosis is based on the thickness (>3 mm) of the muscle measured on a transverse view and pyloric canal length >15mm.
What is the pre-operative management for pyloric stenosis?
- Pre-operative fluid and electrolyte therapy to correct electrolyte disturbance.
- 0.45% Saline + 1.5x Maintenance rate with 5% dextrose
What is the most common malignancy in children under aged 5?
Nephroblastoma (Wilm’s tumour)
What syndrome is associated with Wilm’s tumour?
Beckwith-Wiedemann Syndrome
What is the clinical presentation for Wilms tumour?
- Abdominal mass (Most common presenting feature)
- Unilateral
- Painless haematuria
- Flank pain
- Anorexia, fever
- Metastases in ~20% of patients (predominantly within the lung).
What is the management for an unexplained abdominal mass in children?
Arrange a paediatric review within 48 hours
What is the diagnostic investigation for Wilm’s tumour?
Surgical excision or biopsy - histological confirmation
What is the initial investigation for a Wilm’s tumour?
Abdominal ultrasound
What is the definitive management for Wilms tumour?
Nephrectomy
What is the leading cause of mortality among preterm infants?
Necrotising enterocolitis
What is the main risk factor for NEC?
IUGR
What is the presentation for NEC?
- Feeding intolerance AND vomiting
- Bile-stained
- Abdominal distension
- Can cause shock Require mechanical ventilation.
- Rectal bleeding
Non-specific systemic findings: Apnoea, respiratory failure, lethargy, or temperature instability.
What characteristic sign is observed in NEC?
Intramural gas - pneumatosis intestinalis
What findings are observed in NEC (XR)?
- Asymmetrical dilated bowel loops
- Bowel wall oedema
- Pneumatosis intestinalis (intramural gas)
- Portal venous gas
- Rigler sign – Air both inside and outside the bowel wall
What is the management for NEC?
Store oral feeding and prescribe broad-spectrum antibiotics. Stop Feed for 7 days in confirmed NEC.
Start parenteral nutrition
What ABx is indicated NEC?
- Ampicillin + Gentamicin + metronidazole.
When does reflux in an infant typically resolve by?
Resolves by 2 years
What is the most common cause of vomiting in infants?
GORD
What are the risk factors for GORD in infants?
Risk factors
* Premature birth
* Parental history of heartburn or acid regurgitation
* Obesity
* Hiatus hernia
* History of congenital diaphragmatic hernia, oesophageal atresia and neurodisability.
What is the presentation of GORD?
- Distressed behaviour shown:
- Excessive crying, crying while feeding, and adopting unusual neck postures (Sandifer syndrome)
- Hoarseness and/or chronic cough
- Single episode of pneumonia
- Pulmonary aspiration
- Unexplained feeding difficulties – refusing to feed, gagging, or choking.
- Faltering growth.
- Oesophagitis Haematemesis, discomfort on feeding or heartburn.
- Vomiting/Regurgitation
- Milky vomits after feeds
- May occur after being laid flat.
What is the first-line therapy for patients with GORD and are breastfed?
1–2-week trial of alginate therapy (Gaviscon).
What is the first line of management for formula-fed infants with GORD?
Review feeding history (reduce the volume of the feeds if excessive for the child’s weight): Total feed = 150 mL/kg body weight over 24 hours. 1–2-week trial of smaller, more frequent feeds
What is the second line for fomulra-fed infants with GORD?
Feed thickeners
What is the third line therapy for GORD in infants?
Consider 1–2-week trial of alginate therapy.
If 1-2 week trial of alginate therapy does not work in GORD, what is indicated next?
4 weeks of PPI – Omeprazole suspension
What is the clinical presentation of ITP?
cutaneous bleeding - petechiae, purpura, and ecchymoses.
Mucosal bleeding - nasal passages, buccal and gingival surfaces.
Bruising
Preceding illness
N.B: There is an absence of systemic symptoms
What investigation findings are consistent with a diagnosis of ITP?
Isolated thrombocytopenia (<100 x 10^9/L)
WCC is normal
What is the first-line management for a patient with ITP?
Self-limiting in 80% children, resolves within 6-8 weeks.
What is the management for severe life-threatening ITP (e.g., intracranial bleeding)?
Intravenous immunoglobulin + platelet transfusion
Antifibrinolytics
Define disseminated intravascular coagulation:
An ACQUIRED syndrome characterised by systemic activation of coagulation
- Haemorrhage and thrombosis.
What is the main cause of DIC in children?
Sepsis - in meninigoccocaemia
Neontal viral infections - Rubella, Herpes, CMV and enterovirus + TORCH infections.
What are the clinical manifestations associated with DIC?
Bleeding (Bleeding from at least three unrelated sites).
* Venepuncture sites and gastrointestinal tract
* Fever and confusion
* Thrombosis – widespread ischaemia or infarction leading to renal failure, liver failure and CNS involvement.
* Purpura fulminans
* Gangrene
* Petechiae, ecchymosis or haematuria
* Circulatory collapse
- Oliguria, hypotension, or tachycardia
What investigations are consistent with the diagnosis of DIC?
Platelet count (<100,000/microL)
Prolonged PT and aPTT
Decreased Factor V and VIII levels
Fibrin formation
* Decreased fibrinogen - low
* D-dimer/fibrin-degradation products.
- Elevated
What is the fibrinogen level in a patient presenting with DIC?
Low
What replacement therapy is indicated in DIC?
Platelet transfusion, FFP an cryoprecipitate transfusions.
What is prescribed in a patient with purpura fulminans due to meningococcal septicaemia?
Protein C concentrates
How many settings must ADHD symptoms of impulsivity and inattention need to occur in for diagnosis?
Two or more settings - including social, familial or educational.
What is the indication of a watchful waiting period in ADHD?
Children with behaviour/inattention problems adversely affecting their life in one setting.
How long is the watchful waiting period in a patient with suspected ADHD?
10 weeks
What is the first-line management for a pre-school aged child (4-6 years) with ADHD?
Parent training in behaviour management
What is the first-line management for a school-aged child (Aged 6-18 years) with ADHD?
methylphenidate or amphetamine + psychoeducation
What is the side effect profile of methylphenidate?
Abdominal pain, nausea, and dyspepsia.
Weight and height - stunted growth
What should be monitored every 6 months in a patient with ADHD managed by methylphenidate?
Height and Weight
What investigation should be performed before initiating methylphenidate?
ECG
What medication should be prescribed in a patient with known tic disorder or stimulant induced tics with ADHD?
Guanfacine or clonidine.
What is the second-line therapy if methylphenidate is unsuccessful in ADHD?
lisdexamfetamine
What is a febrile seizure?
A seizure occurs in a febrile child (>38.0°C) between the ages of 6mo-6 years.
Which age category is most commonly affected by febrile seizures?
6 months to 6 years
How long do febrile seizures typically last?
Approximately 2-3 minutes (<5 minutes)
Which type of seizure is associated with febrile seizures?
Generalised tonic-clonic
- Stiffening followed by rhythmical jerking
-Post-ictal period - drowsiness, irritability or confusion with complete recovery in 1 hour.
What risk factors are associated with febrile seizures?
High fever
Viral infection
Recent immunisation
Family history
Which is the most common causative virus for febrile seizures?
Human herpes simplex virus 6 (HH6) in Roseola.
Management for febrile seizure >5 minutes
Ambulance - call
Seizure lasts >5minutes
(drugs available)→administer one of the below:
* PR diazepam (repeated once after 5 minutes if the seizure hasn’t stopped); OR
* Buccal midazolam
▪ 10 minutes after first dose ongoing seizure,twitching, or another seizure
What is the rescue for febrile convulsions?
Buccal midazolam
Advice during febrile convulsion
Monitor the duration of the seizure; cushion their head and remove harmful objects.
* Do not restrain and check the airway.
There is a 2-6% increased risk of epilepsy,
Management of fever in febrile convulsions
Do not try and cool the child
Regular paracetamol and ibuprofen
Adequate fluid intake
Seek advice if prolonged fever
Definition of a complex seizure
- 15-30 minutes
- Focal seizure
- Repeat seizures within 24 hours
What chromosomal aberration is characterised by Down’s syndrome?
Trisomy 21 - meiotic nondisjunction
What craniofacial appearances are associated with Down’s syndrome?
Microcephaly
Flattened occiput
Flat facial profile
Midface hypoplasia
Upward slanting eyes with epicanthal folds
Brush field spots on the iris
Flat nasal bridge
Small dysplastic ears
Third fontanelle
With ocular abnormalities is associated with Down’s syndrome?
Brush field spots on the iris
What is the presentation of Down’s syndrome?
- Craniofacial appearance:
- Microcephaly, flattened occiput, flat facial profile, midface hypoplasia, upward slanting eyes with epicanthal folds, brush field spots on the iris, flat nasal bridge, small dysplastic ears, third fontanelle.
- Hypotonia (Improves with age)
- Poor Moro reflex
- Short stature
- Small feet, hands, digits
- Wide gap between first and second toes (sandal gap)
- Single palmar crease.
What cardiac abnormalities is associated with Down’s syndrome?
AV Canal defect
VSD
ASD
TOF
PDA
Pulmonary HTN
What gastrointestinal abnormalities is associated with Down’s syndrome?
Duodenal atresia
Hirshprung’s disease
Omphalocele
What joint laxity is associated with Down’s syndrome?
Atlantoaxial instability
What advanced medical co-morbidities is associated with Down’s syndrome?
- Delayed motor milestones
- Learning difficulty
- Short stature
- OSA (50-75%)
- Visual impairment
- Secretory otitis media (75%).
What type of Leukaemia is associated with Down’s syndrome?
ALL
What antenatal testing is performed at 11-13 weeks to detect Down’s syndrome?
Nuchal translucency measurement
- Serum B-HCG - raised
-Pregnancy-associated plasma protein (PAAP-A reduced).
Which antenatal biomarker is reduced in Down’s syndrome?
Pregnancy-associated plasma protein
What is the quadruple diagnostic antenatal test for Down’s syndrome?
AFP, Unconjugated oestriol, HCG, and inhibin A
What is the immediate management plan for Down’s syndrome?
Echocardiogram -ASVD
Genetic counselling
Early intervention programme
- Physiotherapy
-OT
-SALT
Definition of autism
A neurodevelopmental disorder characterised by qualitative impairment in social interaction, and communication.
* Repetitive stereotyped behaviour, interests, and activity.
What are the core symptoms of autism (2)?
CORE SYMPTOM 1: Impaired social communication and interaction
CORE SYMPTOM 2: Restricted and repetitive behaviour, interests, and activities
Stereotyped behaviours
What screening and diagnostic questionnaires are performed for the diagnosis of Autism Spectrum disorder?
Autism diagnostic observational schedule
DISCO
SCQ, CAST, CARS, SRS, ASQ
Define Breath Holding Attacks:
These typically occur in toddlers.
* Provoked by temper, frustration, or strong emotion.
- Cries rigorously for <15 seconds silent
* The screaming toddler holds his or her breath Cyanosis and loss of consciousness.
* Rapid recovery
Which vitamin is deficient in haemorrahgic disease of the newborn?
Vitamin K
Which type of babies are at an increased risk of haemorrhagic disease of the newborn?
Breast-fed babies - poor source of vitamin K
+ Maternal use of anti-epileptic drugs
What is the management for haemorrhagic disease of the newborn?
Once-off Intramuscular injection of vitamin K
What murmur is associated with the following description:
A continuous blowing noise heard below both clavicles
A venous hum
What causes a venous hum?
Turbulent blood flow in the great veins and returns to the heart - a continuous bilateral blowing noise inferior to the clavicles
Where is a venous hum predominantly heard?
Inferior to both clavicles
What is a Still’s murmur?
Low-pitched sound heard at the lower left sternal edge
Where is a Still’s murmur heard?
At the lower left sternal edge
What antibiotic management is prescribed in Scarlet Fever?
10-day cause of an oral penicillin (benzylpenicillin or azithromycin is penicillin allergic).
What is the first line management for Kawasaki disease?
High-dose aspirin and intravenous immunoglobulin
What investigations are necessitated in a patient with Kawasaki disease?
Echocardiogram to detect coronary artery aneurysm
A slapped cheek appearance is associated with what viral exanthem?
Fifth disease - Parvovirus B19 infection - Erythema infectiosum
Define West’s Syndrome:
Infantile spasms - characterised by hypsarrythmia on an EEG
What EEG pattern is observed in infantile spasms?
Hypsarrhythmia
What is the first-line management for infantile spasms?
vigabatrin
What characteristic feature is associated with infantile spasms?
‘salaam’ attacks
What is the first line management for transposition of the great arteries?
Prostaglandin E1 - to maintain the PDA until surgical correction is performed
Name 3 causes of cyanotic congenital heart disease
Tetralogy of Fallot
Transposition of great arteries (TGA
Tricuspid atresia
What is the causative organism for acute epiglotitis?
Haemophilus influenzae type B
What is the management for asymptomatic neonatal hypoglycaemia?
Encourage normal feeding and monitor glucose
What is the threshold for neonatal hypoglycaemia?
<2.6 mmol/L
What are the symptomatic features associated with neonatal hypoglycaemia?
Jitteriness
Irritabile
Tachypnoea
Pallor
+ neuroglycopenic symptoms - poor feeding, weak cry, drowsy, hypotonia, seizures
What is the most common causative organism for early-onset neonatal sepsis?
GBS and Escherichia coli, L. monocytogenes
What is the management for symptomatic hypoglycaemia?
Intravenous infusion of 10% dextrose
What is the inheritance pattern for Tay-Sachs disease?
Autosomal recessive
What are the four features of tetralogy of fallot?
ventricular septal defect (VSD)
right ventricular hypertrophy
right ventricular outflow tract obstruction, pulmonary stenosis
overriding aorta
What are the CXR features in ToF?
Boot shaped heart
What ECG findings are associated with ToF?
Right ventricular hypertrophy
What is the 1st line management for Scarlet fever?
Oral Penicillin V for 10 days
What school exclusion advice is recommended for Scarlet fever?
Return to school 24 hours after commencing ABx
Is a notifiable disease
What is the causative organism for Scarlet Fever?
Streptococcus pyogenes (group A)
What is the most common complication associated with Scarlet Fever?
Otitis media
target sign on ultrasound is consistent with what diagnosis?
Intussusception
What is the diagnostic investigation for Intussusception?
Abdominal ultrasound revealing target sign
What is the definitive management for Intussusception?
Air insufflation under radiographic guidance or barium enema
What investigation is performed as part of the newborn hearing screening programme?
Otoacoustic emissions
What investigation follows an abnormal hearing test at birth?
Auditory brainstem response test
What prophylaxis is prescribed in immunocompromised patients exposed to varicella zoster?
Varicella zoster immunoglobulin
What is the first line management for nocturnal enuresis?
Enuresis alarm and reward systems - star charts (given for agreed behaviour not dry nights)
What is the second line management for nocturnal enuresis if an enuresis alarm is ineffective?
Desmopressin
What is the first step for newborn resucitation?
Dry the baby followed by 5 inflation breaths
Name the childhood syndrome characterised by a small chin, posterior displacement of the tongue and cleft palate.
Pierre-Robin Syndrome
Supravalvular aortic stenosis , short stature, learning difficulties and an extrovert personality is associated with what childhood syndrome
William’s Syndrome
Rocker bottom feet, small chin, overlapping of fingers is associated with what childhood syndrome?
Edward’s syndrome
Which condition is associated with hypospadias?
Cryptorchidism
What is the causative organism for croup?
Parainfluenza virus
What is the management for a patient with Perthes disease <6 years?
Observation
What is the definitive management for SUFE?
In situ screw fixation
What condition is associated with precipitating meconium ileus?
Cystic fibrosis
What is a poor prognostic factor for congenital diaphragmatic hernia?
The presence of the liver in the thoracic cavity
Respiratory rate admission criteria in neonate?
> 60 breaths per minute
What is the first line of management for Hirschprung’s disease?
Rectal washout/bowel irrigation
What is the gold-standard investigation for Hirschprung’s disease?
Rectal biopsy
Which age group is most affected by SUFE?
10-15 years
Which demographic of patients is most affected by SUFE?
10-15 Year olds
Boys
Obese
What is the presentation of SUFE?
Common: Altered gait, and pain.
* Nonradiating, dull, aching pain in the hip, groin, thigh, or knee.
* Loss of internal rotation of the leg in flexion.
Gait
* Trendelenburg’s gait
* Affected leg externally rotated.
- Unable to bear weight on the affected leg.
Define SUFE:
Displacement of the femoral head epiphysis postero-inferiorly
What radiological investigations are performed in SUFE?
Bilateral AP X-rays
Lateral (frog-leg X-rays)
What specific radiological sign is consistent with SUFE?
Klein’s lines do not intersect the femoral head
- Trethowan’s sign
What is the first line management for SUFE?
Immediate (urgent) orthopaedic referral for in situ screw fixation across the growth plate
Define Perthe’s disease:
LCP is an idiopathic osteonecrosis of the hip.
* Avascular necrosis of the femoral head.
What is the peak age incidence of Perthes diseae?
5-8 years
Which sex is most affected by Perthes disease?
5x boys
Presentation of Perthes disease
nsidious onset of hip pain
* Activity-related
* Progressive over weeks
* Pain referred down the anterior hip and medial thigh.
Limp
* Short stature
* Muscle wasting
- Gluteal muscles and quadriceps
Positive roll test
Supine position: Roll the affected extremity into internal and external rotation Guarding.
Stiffness and reduced range of hip movement
* Limited abduction and internal rotation.
N.B: No history of trauma
Bilateral in 10-20%
What is the first line Ix for suspected Perthes disease (+ findings)?
Bilateral AP X-rays: - reveals femoral head collapse and fragmentation
What is the confirmatory diagnostic Ix for Perthe’s disease?
Technetium bone scan
What is the acute management for Perthe’s disease?
Analgesia + supportive (protective pad over tibial tubercule)
What is the definitive management for a patient with Perthe’s disease <5 years of age?
Mobilisation and monitoring
What is the definitive management for Perthe’s disease in patients aged 7-12 years?
Surgical containment - keep femoral head within the acetabulum.
Presentation of transient synovitis
Limited movement
* Limited arch of motion – apparent in abduction and internal rotation.
* Pain on passive movement
* Tenderness on palpation of the hip or groin.
Limp
* Refusal to weight bear
Positive log roll
Most SENSITIVE test for transient synovitis.
* Supine: Involuntary muscle guarding in affected limb.
N.B: Fever is a red flag – consider septic arthritis.
* Urgent specialist assessment in fever.
What is transient synovitis?
Predominantly affects children between 2-12 years with a recent URTI
* Self-limiting inflammatory disorder of the hip; more common in boys.
Management of limp + fever?
Red flag for septic arthritis - urgent specialist assessment using kocher criteria
What are the first line investigations for transient synovitis?
FBC - WCC within normal range (Raised = septic arthritis).
X-ray - Exclude Perthe’s disease (normal in TS)
What is the management for transient synovitis?
Symptomatic relief – ibuprofen, naproxen or paracetamol.
A painful swelling of the growing tibial tuberosity in adolescents is diagnostic of what disease?
Osgood-Schlatter Disease
What is the aetiology of Osgood-Schlatter disease?
Osteochondrosis secondary to repeated avulsion and microtrauma of the apophysis into the patellar tendon insertion.
What is the presentation of Osgood-Schlatter Diseae?
- Gradual onset of pain and swelling of the tibial tubercle.
- Worsening of pain with athletic activity
- Dull ache exacerbated by jumping or climbing stairs.
- Tenderness to touch over tibial tubercle, particularly with restricted knee extension.
What are the radiological findings on lateral x-ray for OSD?
Separation and fragmentation of the upper tibial epiphysis
What is the acute management approach for OSD?
- ICE after exercise (over the tibial tuberosity, 10-15 minutes up to 3 times per day).
- Pain relief: NSAIDs/Paracetamol
- Quadriceps stretching exercises and cross-training with low-impact sports
- Protective knee pads (relieve pain when walking)
- Injections of local anaesthetic mixed with dextrose
How long should ice after exercise be applied over the tibial tuberosity for in OSD?
10 to 15 minutes up to 3 times per day
What specific guided advice referral should be given to patients with OSD?
Victorian Paediatric Orthopaedic Network – Fact sheet + instructions on stretches.
what is the most common causative organism of septic arthritis in children?
Staphylococcus aureus
Causative organism of septic arthritis in SCD patients?
Salmonella
Risk factors for septic arthritis
RhA, osteoarthritis, joint prosthesis, crystal arthritis, chronic disease, immunosuppression.
Presentation of septic arthritis:
- Single joint – Knee, hip, and ankle (~80%).
- Limited range of motion
- Infants will hold their limbs still (pseudoparalysis)/cry
- Erythematous, warm and tender joint
What is the common causative organism of septic arthritis in neonates?
GBS, N. gonorrhoea and gram-negative enteric bacilli.
What are the first line investigations in a patient presenting with a hot, tender, erythematous joint?
Septic screen, - raised crp, esr
FBC - Raised WCC
What is the gold standard investigation and management for septic arthritis?
Joint aspiration of synovial fluid - to identify causative organism for MCS
Radiographic findings for septic arthritis (x4)?
- Capsular swelling, soft tissue swelling
- Widening of the joint space
- Increased opacity within the joint
- Distension of the joint capsule
What criteria is used to screen for septic arthritis in a child?
Kocher criteria
What are the 4 parameters of Kocher’s criteria?
- Fever >38.5
- Non-weight bearing
- Raised ESR
- Raised WCC
What ABx is prescribed in a neonate <3 months with septic arthritis?
IV cefotaxime + amoxicillin
What ABx is prescribed in a child 3 months to <5 years with septic arhritis?
- IV ceftriaxone
- Penicillin allergic – Clindamycin
What ABx is prescribed to patients with septic arthritis (Aged >6 years)?
- IV flucloxacillin
o Allergic - Clindamycin
o MRSA - Vancomycin
o Gram-negative - Cefotaxime
What is the peak incidence age of osteosarcoma?
13-16 years of age - coincides with adolescent growth spurt
- occurs at an earlier age in children - more frequently in black children
What are the risk factors of osteosarcoma?
Risk factors: Radiation therapy, chemotherapy (alkylating agents).
o Syndromes: Gardner Syndrome, Li-Fraumeni, NFT1, Retinoblastoma
Which syndromes are associated with osteosarcoma?
Gardner Syndrome, Li-Fraumeni, NFT1, Retinoblastoma
What are the common sites of osteosarcoma?
Metaphysis of long bones:
1. Distal femur
2. Proximal tibia
3. Proximal humerus
4. Middle and proximal femur
Presentation of osteosarcoma?
- Worsening pain over weeks to months
- More severe at rest and at night.
- Dull, deep, boring, and relentless
- Mass/swelling – Firm, tender and warm to the touch.
- Decreased range of motion of the affected limb
- Rapid metastases to the lungs.
What is the first line investigation in patients with suspected osteosarcoma?
Plain conventional radiograph
Unexplained bone swelling in children and young people (NICE Ix recommendation)?
Urgent direct access X-ray within 48 hours
What are the radiological findings associated with osteosarcoma?
Codman’s triangle - Elevated periosteum
Sunburst appearance - soft tissue calcification
What is Codman’s triangle in osteosarcoma?
Elevated periosteum
What is the confirmatory diagnostic Ix in osteosarcoma?
Bone biopsy - highly pleomorphic spindle cell neoplasm with lace-like appearance
What is the management for low-grade disease at presentation?
Resection and reconstruction
What is the management approach for high-grade non-metastatic disease?
Complete surgical resection of the primary tumour
What is the prognosis of osteosarcoma?
POOR
60% - 5 year survival rate
Definition of Ewing Sarcoma:
A malignant tumour of the bone or soft tissue is characterised by the presence of small, round, blue cells of immunohistochemical evaluation.
- Primitive neuroendocrine tumour (PNET)
- Associated t (11:22) (EWSR1/FLI1) (q24; q12)
Presentation of Ewing Sarcoma:
- Painful soft tissue mass is often present.
- The midshaft of a long bone is usually affected.
- Long bone of arms, legs, chest, skull and trunk.
- Weight loss, fever, and lethargy
- Localised pain or swelling of a few weeks or months’ duration.
What is the radiological finding associated with Ewing Sarcoma?
(Bone destructions with overlying onion-skin layers of periosteal bone formation).
What is the histological appearance of Ewing Sarcoma?
Small round blue cells
What is the definition of DDH?
DDH refers to the abnormal development of the acetabulum and proximal femur and mechanical instability of the hip joint.
- Aetiology: Ligamentous laxity Spontaneous dislocation and reduction of the femoral head.
- Results in: Flattening of the acetabulum, muscle contractures that limit motion and joint capsule tightening.
o Left hip – Affected 3x than the right hip.
Which sex is most affected by DDH?
Female infants are at a higher risk 9:1 ratio
What are the main risk factors for DDH?
Breech presentation (>34 weeks)
Firstborn child
Oligohydramnios
Positive family history
Macrosomia (birth weight >5kg)
Congenital calcaneovulagus foot deformity
What is the Barlow test?
- Attempts to dislocate an articulated femoral head.
What is the Ortolani test for DDH?
- Evaluates the stability of the hips.
o Attempts to relocate a dislocated femoral head.
o Used in infants 3-6 months of age.
o Palpable clunk
What is the Galeazzi sign for DDH?
- Limb-length discrepancy (Galeazzi sign – baby on back, legs together and knees flexed)
what is the diagnostic investigation for DDH?
- Ultrasonography:
- Diagnostic investigation for assessing morphology and stability of the infant’s hip.
- > 4.5 months then X-ray.
What are the indications for a 6 week ultrasound scan to check for DDH?
- Breech presentation at 36/40 weeks (regardless of presentation at delivery)
- Breech delivery (including <36/40)
- Family history of DDH
note: from >6 months = hip x-ray
What are the complications of DDH?
Avascular necrosis
Temporary femoral nerve palsy
What is the first line of management for osteomyelitis?
High dose IV empirical antibiotics - - Flucloxacillin
What is the most common site for osteomyelitis?
Distal femur and proximal tibia.
What disease staging classification is used for osteomyelitis?
Cienry-Mader classification
What are the indicators for NAI?
- Delay in seeking medical help.
- Mechanism inconsistent with injury or developmental stage of child
- Signs of neglect
o Failure to meet basic physical or psychological needs (food, shelter, medical care, and supervision). - Unusual behaviour of child (e.g., withdrawn, overly affectionate with strangers, distress/recurrent nightmares.
- Multiple injurie
- Injuries suggestive of an implement
o Rib fractures
o Fractures in a nonambalant child
o Multiple bruisers in unusual locations
o Shaken baby syndrome.
Irritability
Retinal haemorrhages
Sign of raised intracranial pressure.
What are the three features associated with shaken baby syndrome?
o Shaken baby syndrome.
Irritability
Retinal haemorrhages
Sign of raised intracranial pressure.
What types of bruising should be recognised in suspected NAI?
In shape of a hand, ligature, stick, teeth mark, grip or implement.
What types of fractures are concern for NAI?
Rib or long bone fractures
What physical features should be recognised for NAI?
- Bruising – in shape of a hand, ligature, stick, teeth mark, grip or implement.
o Petechiae (unexplained) – in clusters, similar shape/size, non-bony part (e.g. face, eyes, ears and buttocks); ankles and neck (attempted strangulation). - Bites
- Lacerations, abrasions, or scars
- Burns or scald injuries – glove and stocking.
- Fractures – X-ray of occult fractures.
- Torn frenulum labii superioris.
o Rib fractures. - Intracranial injury
o Under <3 years
o Retinal haemorrhages
o Rib or long bone fractures
o Subdural haemorrhages.
Anogenital warts under what age should warrant further escalation?
Under the age of 13 - suspected sexual abuse
What is a feature of sexual abuse in children?
anogenital warts
What is the first line management for a patient with suspected NAI?
- Admit the child to a place of safety,
- Contact child abuse investigation team (CAIT)
- Contact Social services
Which factor is deficient in Haemophilia A?
Factor VIII
What is the most common causative organism for late-onset neonatal sepsis?
Coagulase-negative Staphylococcus (CoNS)
▪ I.E.Staphylococcusepidermidis
What are the red flag signs for high-risk sepsis in paedaiaitric patients?
Hypotension
Prolonged capillary refill time >5s
Oxygen saturation <92% (requiring oxygen saturation)
Pale/mottled skin or non-blanching purpuric rash
RR>60 breaths per minute
Grunting
AVPU - V, P or U
What is the initial fluid resuscitation infusion rate for paediatric sepsis?
20 mL/kg 0.9% NaCl bolus over 5-10 minutes
What is the preferred ABx of choice for meningococcal sepsis? (Community versus hospital)
Community - IM benzylpenicillin
Hospital - IV cefotaxime
What is the time frame for early onset sepsis?
<72 hours
What is the ABx option for late-onset sepsis (>72 hours) for Coagulase negative staphylococcus aureus?
IV meropenem + amikacin + ampicillin
What are the risk factors for neonatal sepsis?
PROM/PPROM, chorioamnionitis (i.e. fever during labour)
What is the first step for neonatal Resuscitation?
Dry the baby (note the time) and within 30s, assess tone, RR, and HR
Where is HR palpated in neonates?
Femoral , brachial
How many inflation breaths are administered within 60s of neonatal resuscitation?
5 (1:2:3, 2:2:3, 3:2:3, 4:2:3, 5:2:3)
How many 5 inflation breaths should be administered prior to ventilation?
3
What is the ventilation rate in neonates?
15 over 30s
What is the compression to breath ratio in neonates?
3:1
When is the Apgar score assessed?
First minute and 5 minutes post-delivery
What are the parameters of the APGAR score?
Appearance
Pulse
Grimace
Activity Respiration
What is the chromosomal abnormality associated with Patau Syndrome?
Trisomy 13
What are the features associaaited with Patau syndrome?
Microcephaly (and brain defects)
* Microphthalmia (small eyes)
* Other eye defects
* Cleft lip/palate
* Polydactyl
* Omphalocele / Gastroschisis
Trisomy 18 is defined as what chromosomal syndrome?
Edward’s syndrome
What are the clinical features associated with trisomy 18?
LBW
* Small mouth/chin
* Low-set ears
* ‘Rocker-bottom’ feet
* Overlapping fingers
* Intellectual disability
* Cardiac, renal and GI abnormalities
* Omphalocele / Gastroschisis
What are the characteristic features associated with Trisomy 21?
Characteristic facies
* Hypotonia and short neck
* Single palmar crease
* ‘Sandal gap’ on feet
* Short stature
* Upslanting palpebral fissures
* Flat occiput
* Congenital heart defects in 40%
* Omphalocele / Gastroschisis
- Webbed neck
- Trident hairline
- Pectus excavatum
- Short stature
- Pulmonary stenosis
Diagnosis?
Noonan Syndrome
Pulmonary stenosis is associated with what chromosomal syndrome?
Noonan syndrome
What are the clinical features associated with Prader-willi?
Prader-Willi Syndrome
* Hypotonia
* Hyperphagia
* Almond-shaped eyes
* Hypogonadism
* Obesity (in later childhood)
* Epicanthal folds
* Flat nasal bridge + upturned nose
* Learning disability
What are the characteristic features associated with Turner’s syndrome?
Lymphoedema of hands/feet in neonate
* Short stature, spoon-shaped nails
* Wide carrying angle
* Thick or webbed neck
* Infertility
* Bicuspid aortic valve > Aortic coarctation
o ESM over aortic valve
* Delayed puberty
* Hypothyroidism
* Omphalocele / Gastroschisis
What genetic mechanism is assocaited with Prader-Willi Syndrome?
Genetic imprinting - Expression of gene is influenced by the sex of the parent who has transmitted it.
What paternal PWS chromosome is affected in PWS?
chromosome 15
Which type of mutation is associate with Fragile X syndrome?
CGG trinucleotide repeat expansion of the FMR1 gene.
What are the characteristic clinical features associated with Fragile X?
IQ 20-80 (mean 50) – 2nd most common cause of low IQ after Down’s Syndrome
* Macrocephaly, macroorchidism
* Characteristic facies:
o Large, low-set ears
o Long, thin face
* Other – autism, joint laxity, scoliosis
* Complication: Mitral valve prolapse
Which cardiac complication is associated with Fragile X?
Mitral Valve prolapse
Microcephaly, absent philtrum, reduced IQ, and IUGR are associated with what congenital aberration?
Foetal alcohol syndrome
When is Patau and Edward Syndrome diagnosed?
USS analysis during the 2nd trimester - chromosomal analysis from amniocentesis and cffDNA (NIPT)
What is the inheritance pattern assocaited with Noonan’s syndrome?
Autosomal dominant
What are the neonatal complications associated with Turner’s syndrome?
Pyloric stenosis
Coarctation of the aorta
Biscuspid aortic valve - aortic stenosis -ESM murmur
What murmur is associated with Turner’s syndrome?
Ejection systolic murmur secondary to biscspid aortic valve
What is the term used to describe the skin on the back of the neck in Turner’s syndrome?
Cystic hygroma
What is the management of Turner’s syndrome?
Growth hormone replacement therapy - plot growth and height charts
Oestrogen replacement at the time of puberty for the development of secondary sexual characteristics
What is the most common genetic chromsomal pathogenesis for trisomy 21?
Meiotic non-disjunction
What neonatal complications are associated with trisomy 21?
Congenital heart defects - AVSD
Duodenal atresia
Hirschprung’s disease
Omphalocele
What childhood complications are associated with trisomy 21?
Secretory otitis media
Learning difficulty
Short stature
Delayed developmental milestones
OSA
ALL
What are the late-stage complications associated with trisomy 21?
ALL
Hypothyroidism and Coeliac’s disease
Epilepsy
Early-onset Alzheimer’s disease
Joint laxity - screen for atlantoaxial instability
Which congenital heart defect is most commonly associated with Trisomy 21?
ASVD
What defines as a low birth weight baby?
<2.5 kg
Very low birthweight baby?
<1.5kg
Extremely low birthweight baby?
<1 lg
What is the first newborn auditory investigation in neonates?
Evoke otoacoustic emission testing
What is the second line investigation post-failed EOAE?
Automated auditory brainstem repsonse audiometry
What is the preferred hearing modality in >4 year olds?
Pure tone audiometry
Define positional talipes?
Feet remain in the in-utero position due to intrauterine compression
What is the management of talipes equinovarus?
Ponsetti method - plaster casting and bracing
What trisomy is associated with Patau syndrome?
Trisomy 13
Trisomy 18 describes which syndrome?
Edward’s syndrome
What is the prophylaxis for bronchopulmonary dysplasia?
Maternal corticosteroids <34 weeks (consider 34-36 weeks)
What is the first line respiratory support for BPD?
High flow oxygen followed by CPAP
What effect does caffeine citrate have in the management of BPD?
Stimulates respiratory effort
What prophylactic drug for bronchiolitis is prescribed infants with bronchopulmonary dysplasia?
Paliviziumb
What is the first line management for cleft palate?
Refer to the cleft lip and palate MDT team - EARLY REFERRAL
Speech and language therapy input for long-term
Definitive surgical closure
When is the primary closure of the cleft lip done?
3 months
When is the primary closure of the cleft palate occur?
6-12 months
Feeding support for infants with cleft lip and palate?
Dental plates, specially shaped bottles, teats
How is CMV diagnosis made in a newborn?
Urine or saliva PCR testing within the first 2 weeks.
What is the first line drug to management CMV in the newborn?
Oral valgancilovir or IV ganciclovir (if oral not tolerated)
+ Barrier nursing (CMV is shed in the urine and body secretions).
Mode of delivery for CDH?
Elective c-section
Neonatal management of congenital diaphragmatic hernia?
Intubation and ventilation
ECMO - used if pulmonary hypertension is not improving
Wide-bore NG tube - decompress the stomach to prevent vomiting and swelling
Neonatal ICU
When should surgical repair of CDH be performed?
Within 48 to 72 hours
Management of opthalamia neonatorum?
Same-day referral to ophthalmologist.
Topical chloramphenicol eye drops for mild to moderate
Most common cause of opthalamia neonatorum?
Chlamydia
ABx of choice for chlamydia induced opthalamia neonatorum?
Oral erythromycin
Treat partner and mother
Abx choice for gonococcal induced opthalamia neonatorum?
Single dose of parenteral (IV or IM) cefotaxime/ceftriaxone
Treat partner and mother
Complications of Down Syndrome?
Hypothyroidism
Duodenal atresia
Hirschprung’s disease
Coeliac disease
Epilepsy
Atlantoaxial instability
Frequency of TFT investigations for hypothyroidism in Down syndrome?
At birth, 6 months, 1 year and annual surveillance
Which malignant blood disorder is associated with Down syndrome?
ALL
Which charity is used for Down’s syndrome?
Down’s syndrome association
Prophylaxis for Group B streptococcal infection (obstetrics)?
Intrapartum benzylpenicillin (or vancomyin if allergic)
Indications for Group B prophylaxis in mothers?
Previous baby born with invasive group B streptococcal infection
Group B colonisation, bacteriuria, or infection
Are in pre-term labour
Neonatal infection management for Group B streptoccous?
Penicillin (IV benzylpenicillin) and gentamicin
What is the prophylaxis prescribed for haemolytic disease of the newborn to mothers?
Anti-D immunoglobulin to RhD negative non-sensitised mothers at 28 weeks (single dose of 1500 IU)
or two doses of 500 IU at 28 and 34 weeks and delivery
Neonatal management for haemolytic disease of the newborn?
Resus protocol
Initiate phototherapy
Exchange transfusion (if Bilirubin is rising rapidly 8-10 umol/L/hr despite adequate phototherapy; significant anaemia <100 g/L or severe hyperbilirubinaemia)
IVIG for immune haemolysis
HepB virus for HBsAG positive mothers?
Monovalent Hepatitis B vaccine within 24 hours of birth (and at 4 weeks + 1 year)
6 in 1 vaccine at 8,12,16 weeks
Indications for HBIG in neonates?
Maternal HBeAg positive
Maternal anti-Be negative
Maternal HBV DNA ≥1x106 IU/ml
Acute maternal HBV infection during pregnancy
Birthweight <1.5 kg.
Prophylaxis in primary genital herpes mothers (<28 weeks)?
Prophylactic regular aciclovir is given from 36 weeks onwards
Vaginal delivery if asymptomatic and >6 weeks after initial infection
What is the indication for C-section in HSV positive mothers?
Symptomatic presentation
Management for primary genital herpes after 28 weeks gestation?
C-section + acyclovir
What clinical grading is used for HIE?
Sarnat grading - classifies into 3 stages
First line management for HIE?
A-E resuscitation
-Therapeutic hypothermia within neonatal ICU
How does therapeutic hypothermia work?
Active cooling the core temperature of the baby to between 33 and 34 degrees - reduces inflammation and neurone loss following an acute hypoxic injury
Over 72 hours.
Management of listeria monocytogenes infection?
Amoxicillin and gentamicin
Asymmetrical patchy opacities on chest X-ray post-term delivery are associated with what diagnosis in the neonate?
Meconium aspiration
Management of meconium aspiration in normal term infant without history of GBS?
Observation
Management of high-risk meconiun aspiration neonate?
IV ampicilllin and gentamicin
Oxygen and non-invasive ventilation
What is the first line approach for NEC?
Stop feeding and begin TPN for 7 days.
NG tube - used to drain fluid and gas from the gut; monitor hourly aspirates
Broad-spectrum IV antibiotics - cefotaxime and vancomyin
What is the surgical approach for necrotising eneterocolitis?
Laparotomy with resection of the necrosed bowel with either a primary anastomosis or a defunctioning stoma
How is neonatal hypoglycaemia prevented?
Feed baby within 30 minutes; subsequent feeding 2-3 hours.
Management of asymptomatic neonatal hypoglycaemia?
Confirm hypoglycaemia via blood glucose assay.
- Support breastfeeding technique; consider supplement breast milk substitute or IV glucose
Remeasure glucose every 1 hour
Indications for IV glucose infusion in neonatal hypoglycaemia?
Symptomatic
OR
Pre-feed glucose <2 mmol/L
What initial bolus of glucose should be administered for neonatal hypoglycaemia?
2 ml/Kg of 10% glucose infusion
Management for neonatal hypoglycaemia if <1mmol/L
1st line - buccal glucose gel
arrange IV glucose infusion (2 ml/Kg 10% glucose bolus)
Which non-invasive screening test is performed for low-risk neonates of jaundice?
Transcutaneous bilirubin
First line investigation for pathological jaundice?
Serum bilirubin (<24 hours of age onset or born <35 weeks)
Management of physiological jaundice?
Reassurance
Management of unconjugated pathological jaundice (1st line)
Phototherapy
What investigation determines the indication for phototherapy in pathological jaundice?
Serum bilirubin threshold (between lower blue and upper red line)
Second line management for pathological jaundice following phototherapy?
Intensified phototherapy and adjuncts (IVIG)
First line management for severe (above upper red line) pathological neonatal jaundice?
Exchange transfusion
Common cause of pathological CONJUGATED jaundice?
Biliary atresia
Protective precautions for phototherapy?
Eye protection
What resources are available for neonatal jaundice?
NHS choices neonatal jaundice factsheet
The breastfeeding network
Bliss (for premature and sick babies)
Management for persistent pulomnary hypertension of the newborn?
Oxygen
Ventilation
Surfactant
Suction of secretions from ETT
Inhaled nitric oxide
Management for small pneumothorax in neonate?
Close observation and 100% oxygen for 1-2 hours to wash out nitrogen
Consider needle decompression
Management for tension pneumothorax?
Chest drain insertion
What prophylaxis is prescribed to mitigate the risk of respiratory distress syndrome in neonates?
Antenatal corticosteroids - increases foetal lung maturation
Management of toxoplasmosis in the newborn?
Refer to paediatric infectious diseases
-Pyrimethamine + Sulfadiazine + Folinic acid
Continue all 3 for 1 year
Management for active chorioretinitis in toxoplasmosis?
Prednisolone
Follow-up investigations for asymptomatic toxoplasmosis newborns with positive serology?
Ophthalmology and audiology assessment
Management for Type A Transoesophageal fistula?
Stabilisation and gastrostomy + replacement
Management for type B/D Transoesophageal fistula?
Suction catheter and surgical correction
Management for type E Transoesophageal fistula?
NBM and surgical division of the fistula
Management for transient tachypnoea of the newborn if the respiratory rate is 60-80 breaths/minute?
Nutritional support - NGT or TPN
Indication for TPN/NGT in transient tachypnoea of the newborn?
Respiratory rate 60-80 breaths/minute
What is the gold-standard investigation for aortic stenosis?
Echocardiogram
What is the definitive management for aortic stenosis?
Percutaneous balloon aortic valvuloplasty
OR
Transcatheter aortic valve replacement (TAVR) or surgical valvotomy
What are the three main types of atrial septal defect?
- Ostium secondum - septum secondum fails to completely close
- Patent foramen ovale
- Ostium primum
Which is the commonest ASD observed?
Ostium secondum
Which murmur is auscultated in ASD?
Mid-systolic, crescendo-descrescendo murmur loudest at the upper left sternal border with fixed splitting of the second heart sound.
Management for ASD (ostium secondum)?
Transcatheter closure after 2 years. of age in asymptomatic patients
Definitive management for ostium primum ASD?
Open heart surgery
Indications for surgical closure in ASD?
Right heart enlargement
Symptomatic pulmonary over circulation
Evidence of substantial left-to-right shunting (ratio of pulmonary to systematic blood flow >1.5)
Commonest site of coarctation of the aorta?
Distal to the left subclavian artery - at the origin of the ductus arteriosus
What is the first line management for coarctation of the aorta?
Prostaglandin E1 infusion - to maintain duct patency
What is the definitive surgical repair coarctation of the aorta?
End-to-end anastomosis or arch reconstruction or bypass graft
What are the three main causes of congenital cyanotic heart disease?
- Tetralogy of Fallot
- Transposition of the great arteries
- Tricuspid atresia
Drug to maintain duct patency?
Prostaglandin E1 infusion
Drugs to reduce preload in heart failure?
Diuretics Furosemide
Venous dilators - Nitroglycerin
Drugs to enhance cardiac contractility in heart failure?
Using IV agents (e.g., dopamine)
Other options - dobutamine, digoxin, adrenaline
Drugs to reduce afterload in heart failure?
Oral ACE inhibitors
IV agents (e.g., hydralazine, nitroprusside, alprostadil)
Drugs to improve oxygen delivery
Beta-blockers (e.g., carvedilol)
Initial empirical therapy for infective endocarditis in native valves?
Beta-lactams +/- low-dose gentamicin
low-dose gentamicin + vancomycin
Complications of PDA?
Bacterial endocarditis
Pulmonary vascular disease
Management of PDA
IV indomethacin - 1st line
What class of drug is indomethacin
Prostacyclin synthetase inhibitor
Surgical options for PDA
Surgical ligation or percutaneous catheter device closure
Management for moderate to severe pulmonary stenosis
Transcatheter balloon dilatation
Surgical valvuloplasty (2nd line)
