Paed Flashcards
A male neonate born at 38 weeks’ gestation develops acute respiratory distress within 36 hours of delivery. Clinical examination reveals coarse breath sounds. Serial CXRs carried out in the Special Care Baby Unit (SCBU) reveal reduced lung volumes and widespread granular opacities. There is reduced trans-radiancy in the right hemithorax and an ultrasound reveals that this is secondary to a mild-moderate pleural effusion. What is the most likely diagnosis? [B1 Q25]
A. Surfactant deficiency.
B. Meconium aspiration.
C. Bronchopulmonary dysplasia (BPD).
D. Beta haemolytic streptococcal pneumonia.
E. Pulmonary interstitial emphysema (PIE).
Beta-haemolytic streptococcal pneumonia.
This is the most common neonatal pneumonia and differs from other common patterns of pneumonia as it causes this pattern on CXR, whereas other neonatal pneumonias commonly cause high lung volumes and streaky perihilar densities. Transient tachypnoea of the newborn (TTN) and meconium aspiration syndrome also classically cause increased lung volumes and streaky perihilar density, although the radiographic appearance of meconium aspiration can also often be difficult to differentiate from beta-haemolytic streptococcal pneumonia. A useful differentiation is that pleural effusions are uncommon in meconium aspiration but are commonly seen in beta-haemolytic streptococcal pneumonia. TTN is also characterized by rapid clearance and would not be expected to persist on serial radiographs. The other common cause for low lung volumes and granular densities described is surfactant deficiency. This would be very unlikely in an infant born at 38 weeks’ gestation.
A male neonate born at 26 weeks’ gestation is currently being treated in your neonatal ICU. The patient’s mother received corticosteroids prior to delivery and prophylactic surfactant administration as per your department’s standard practice. The CXR was clear for the first 7 days. Despite this the child developed streaky perihilar granular opacities and respiratory difficulties. Further surfactant administration has been carried out, but the CXR carried out today (day 28 postpartum) shows small streaky linear densities along with cystic bubbly lucencies, which have been becoming increasingly prominent over the last 7 days and are distributed in an irregular pattern bilaterally. What is the most likely explanation for this appearance? [B1 Q30]
A. Surfactant deficiency.
B. Meconium aspiration.
C. BPD.
D. Beta haemolytic streptococcal pneumonia.
E. PIE.
BPD.
Whilst surfactant deficiency is undoubtedly a feature of this case, the evolution of the clinical scenario indicates that a further condition is evolving to explain the findings and clinical condition. In this case the two likeliest conditions are BPD and PIE, both most associated with immature lungs and both of which give bubbly lucencies on radiography. PIE is a feature of air leak phenomena which occur in stiff lungs and is due to either high airway pressure or alveolar overdistention causing passage of gas into the interstitial spaces. It is associated with other air-leak phenomena such as pneumopericardium. BPD was originally described to occur in four stages, but the advent of refined ventilation, surfactant, and prophylactic administration of corticosteroids, have changed the typical progression. A complete discussion of these diseases is found in the article referenced below. BPD tends to develop more gradually than PIE (as described in the clinical vignette) and tends to occur later than PIE.
As part of investigations for respiratory distress in a neonate, a CT chest is performed showing variable sized cysts in the left lower lobe which are measuring 3cm (multi-cystic mass of pulmonary tissue). Regarding congenital pulmonary airway malformation, which of the following is correct? [B3 Q28]
A. Is the second most common pattern of disease
B. Represents Type 2 disease
C. Represents Type 3 disease
D. The location determines the category of type (1/2/3)
E. Represents Type 1
CPAM
Represents Type 1 - > 2 cm - Most common.
Type 2 smaller cysts are 0.5-2cm
Type 3 appears solid but contains multiple small cysts (0.3-0.5cm).
A 3-day-old boy presents with respiratory distress without cyanosis. Clinically, there is reduced air entry in the right hemithorax with dull percussion note. A chest radiograph shows an opaque right hemithorax with mediastinal shift to the left. Ultrasound scan shows a large effusion, which aspiration demonstrates to be milky. What is the most likely cause? [B4 Q14]
a. Idiopathic
b. Birth trauma
c. Lymphangioleiomyomatosis
d. Thoracic duct atresia
e. Lymphangiectasia
Idiopathic - Usually right sided.
Chylothoraces in neonates are usually right sided, and in most cases no obvious cause is found. Treatment is conservative with special formula and intermittent aspiration. All of the listed conditions are causes of chylothorax, but lymphangioleiomyomatosis presents in adult females and not in the neonatal period.
A new-born is found to have reduced air entry and breath sounds in the right hemithorax but is otherwise well. A chest radiograph shows an opaque right hemithorax with ipsilateral mediastinal shift. Which feature on ventilation–perfusion scintigraphy would make the diagnosis of pulmonary hypoplasia more likely than complete collapse due to bronchial obstruction? [B4 Q16]
a. Matched marked reduction in ventilation and perfusion
b. More marked reduction in perfusion than ventilation
c. More marked reduction in ventilation than perfusion
d. Normal ventilation with reduced perfusion
e. Normal perfusion with reduced ventilation
Matched marked reduction in ventilation and perfusion
Pulmonary hypoplasia is the presence of a completely formed but congenitally small bronchus with rudimentary parenchyma and vessels. This produces a matched marked reduction in ventilation and perfusion or, in severe cases, complete absence of both ventilation and perfusion. In total lung collapse, the ventilation would be reduced or absent with often reduced, but better, perfusion.
In hyaline membrane disease, which is the first feature usually seen on a chest radiograph in the initial stages? [B4 Q29]
a. Reduced lung volumes
b. Bilateral consolidation
c. Granularity in both lungs
d. Pleural effusions
e. White-out of lungs
Granularity in both lungs
Hyaline membrane disease is due to deficiency of pulmonary surfactant, which causes alveolar collapse. Prematurity, caesarean section and perinatal asphyxia are predisposing factors. In the mild form, granularity is seen throughout the lungs as the first sign. As the condition progresses, air bronchograms appear with eventual complete opacification of the lungs. Changes are usually symmetrical if the condition is uncomplicated.
A neonate is delivered following an uncomplicated pregnancy and presents with respiratory distress but no cyanosis. No resuscitation or ventilation is required. A chest radiograph shows a pneumothorax, which is treated by aspiration. What investigation should be considered? [B4 Q74]
a. cranial ultrasound scan
b. renal ultrasound scan
c. abdominal radiograph
d. barium swallow
e. ascending urethrogram
Renal ultrasound scan
Spontaneous pneumothorax may occur in babies where there are renal anomalies, and routine ultrasound scan is recommended. This is often associated with maternal oligohydramnios, but this may not necessarily be present.
A 30-week premature baby is delivered normally and shortly after birth develops tachypnoea and expiratory grunting. What feature on the chest radiograph would make respiratory distress syndrome of the newborn more likely than meconium aspiration syndrome? [B4 Q77]
a. bilateral consolidation
b. pneumothorax
c. pleural effusion
d. air bronchograms
e. hyperinflation with air trapping
Air bronchograms
Respiratory distress syndrome of the newborn is the commonest cause of respiratory distress in premature neonates and is due to relative immaturity of type II pneumocytes. Features seen on chest radiograph are reduced lung expansion, bilateral and symmetrical consolidation, and prominent air bronchograms. These resolve over several days. Meconium aspiration syndrome is the commonest cause of respiratory distress in full-term neonates. Hyperinflation, pneumothorax, and pleural effusions are seen, as are diffuse patchy opacities due to atelectasis and consolidation. No air bronchograms are seen. Changes usually resolve in 48 hours.
A premature baby of a diabetic mother delivered by caesarean section develops tachypnoea soon after birth. Chest radiographs show hyperinflated lungs with prominent interstitial markings and prominent horizontal fissure. These changes resolved after 3 days. The most likely diagnosis is? [B5 Q10]
a. Respiratory distress syndrome
b. Meconium aspiration syndrome
c. Transient tachypnoea of the newborn
d. Left heart failure
e. Normal lung of newborn
Transient tachypnoea of newborn
If the processes of clearing amniotic fluid from the lungs are impaired in a newborn, transient tachypnoea of the newborn develops. This is associated with prematurity, caesarean section, and diabetic mothers. These are typical radiographic features, which resolve in 2–3 days.
A premature baby with hypoxia was treated with mechanical positive pressure ventilation. Subsequent radiographs show worsening appearances with hyperexpansion of the left lung, mediastinal shift to the right, and appearance of small bubbles radiating from the hilum. The most likely diagnosis is? [B5 Q11]
a. Pulmonary interstitial emphysema
b. Respiratory distress syndrome
c. Transient tachypnoea of the newborn
d. Cystic fibrosis
e. Congenital lobar emphysema
Pulmonary interstitial emphysema
This condition is typically associated with premature babies treated with mechanical ventilation. Most commonly, the air may leak from the parenchyma leading to pneumothorax. Air may also leak into the interstitial space and spread throughout the lymphatics and along the perivascular sheaths causing interstitial emphysema.
A 3-month-old child presents to the paediatric outpatient clinic with a history of recurrent respiratory distress. The child had an uneventful delivery but has had recurrent problems since birth. The child had a CXR taken prior to discharge home, aged 2 days, which showed a density in the left upper lobe, felt by the paediatrician to represent the thymus. Whilst the infant has never required admission, the mother is concerned due to recurrent coughing and dyspnoea. A CXR obtained at the clinic shows a large hyperlucent area in the left upper lobe. What is the most likely diagnosis? [B1 Q35]
a. Congenital lobar emphysema
b. Congenital cystic adenomatoid malformation
c. Pulmonary sequestration
d. Persistent PIE
e. Congenital diaphragmatic hernia
Congenital lobar emphysema
Congenital lobar emphysema has a lobar predilection with around 40% being found in the left upper lobe. Congenital lobar emphysema initially presents as an area of soft tissue density due to retained foetal pulmonary fluid. This resolves and is replaced by hyperlucency. Most present in the neonatal period with respiratory distress, but they can present later.
A neonate is delivered following an uncomplicated pregnancy and presents with respiratory distress but no cyanosis. No resuscitation or ventilation is required. A chest radiograph shows a pneumothorax, which is treated by aspiration. What investigation should be considered?
a. cranial ultrasound scan
b. renal ultrasound scan
c. abdominal radiograph
d. barium swallow
e. ascending urethrogram
Renal ultrasound scan
Spontaneous pneumothorax may occur in babies where there are renal anomalies, and routine ultrasound scan is recommended. This is often associated with maternal oligohydramnios, but this may not necessarily be present.
A 30-week premature baby is delivered normally and shortly after birth develops tachypnoea and expiratory grunting. What feature on the chest radiograph would make respiratory distress syndrome of the new-born more likely than meconium aspiration syndrome?
a. bilateral consolidation
b. pneumothorax
c. pleural effusion
d. air bronchograms
e. hyperinflation with air trapping
Air bronchograms
Respiratory distress syndrome of the newborn is the commonest cause of respiratory distress in premature neonates and is due to relative immaturity of type II pneumocytes. Features seen on chest radiograph are reduced lung expansion, bilateral and symmetrical consolidation, and prominent air bronchograms. These resolve over several days. Meconium aspiration syndrome is the commonest cause of respiratory distress in full-term neonates. Hyperinflation, pneumothorax, and pleural effusions are seen, as are diffuse patchy opacities due to atelectasis and consolidation. No air bronchograms are seen. Changes usually resolve in 48 hours.
A premature baby of a diabetic mother delivered by caesarean section develops tachypnoea soon after birth. Chest radiographs show hyperinflated lungs with prominent interstitial markings and prominent horizontal fissure. These changes resolved after 3 days. The most likely diagnosis is?
a. Respiratory distress syndrome
b. Meconium aspiration syndrome
c. Transient tachypnoea of the new-born
d. Left heart failure
e. Normal lung of new-born
Transient tachypnoea of newborn
If the process of clearing amniotic fluid from the lungs is impaired in a newborn, transient tachypnoea of the newborn develops. This is associated with prematurity, caesarean section, and diabetic mothers. These are typical radiographic features, which resolve in 2–3 days.
A premature baby with hypoxia was treated with mechanical positive pressure ventilation. Subsequent radiographs show worsening appearances with hyperexpansion of the left lung, mediastinal shift to the right and appearance of small bubbles radiating from the hilum. The most likely diagnosis is?
a. Pulmonary interstitial emphysema
b. Respiratory distress syndrome
c. Transient tachypnoea of new-born
d. Cystic fibrosis
e. Congenital lobar emphysema
Pulmonary interstitial emphysema
This condition is typically associated with premature babies treated with mechanical ventilation. Most commonly, the air may leak from the parenchyma leading to pneumothorax. Air may also leak into the interstitial space and spread throughout the lymphatics and along the perivascular sheaths causing interstitial emphysema.
A 3-month-old child presents to the paediatric outpatient clinic with a history of recurrent respiratory distress. The child had an uneventful delivery but has had recurrent problems since birth. The child had a CXR taken prior to discharge home, aged 2 days, which showed a density in the left upper lobe, felt by the paediatrician to represent the thymus. Whilst the infant has never required admission, the mother is concerned due to recurrent coughing and dyspnoea. A CXR obtained at the clinic shows a large hyperlucent area in the left upper lobe. What is the most likely diagnosis?
a. Congenital lobar emphysema
b. Congenital cystic adenomatoid malformation
c. Pulmonary sequestration
d. Persistent PIE
e. Congenital diaphragmatic hernia
Congenital lobar emphysema
Congenital lobar emphysema has a lobar predilection with around 40% being found in the left upper lobe. Congenital lobar emphysema initially presents as an area of soft tissue density due to retained fetal pulmonary fluid. This resolves and is replaced by hyper-lucency. Most present in the neonatal period with respiratory distress, but they can present later. Congenital cystic adenomatoid malformations (CCAM) do not show a lobar predilection but can be found anywhere. They can be either air or fluid filled and consist of multiple cysts. CCAM are graded on the size of the cysts. Type 1 lesions contain one or more large cysts, type 2 has numerous small cysts, and type 3 contains microscopic cysts but appears solid at imaging. Congenital diaphragmatic hernias are initially solid on plain radiography and contain air only if there is bowel present.
A 1-day-old neonate presents with respiratory distress. The chest radiograph shows soft tissue shadowing in the right lower zone. On day 4, CT of the chest shows multiple small cysts of varying sizes containing air with resolution of the soft tissue density. What is the most likely diagnosis? [B5 Q27]
(a) Bronchopulmonary sequestration
(b) Congenital diaphragmatic hernia
(c) Pneumonia
(d) Congenital cystic adenomatoid malformation
(e) Bronchogenic cyst
Congenital cystic adenomatoid malformation
These are multi-cystic lesions filled with air. They communicate with the bronchial tree and are filled with air early in life. Most lesions are confined to a single lobe and are solitary.
Sequestration does not contain air in the neonatal period and is only filled with air if infected.
An HRCT chest is carried out on a 3-year-old girl. This child has a history of mild wheeze and tachypnoea, which has developed in the last few months. Standard treatment with bronchodilators and inhaled steroid for presumed asthma has been unsuccessful. The CXR is abnormal, showing mild increased airspace density. The HRCT shows a bilateral pattern of groundglass change. The interlobular septa are markedly thickened, giving a ‘crazy paving’ pattern. What is the most likely diagnosis? [B1 Q1]
A. Pneumocystis jirovecii pneumonia.
B. Lymphocytic interstitial pneumonitis.
C. Alveolar proteinosis.
D. Childhood idiopathic pulmonary haemosiderosis.
E. Childhood sarcoidosis.
Alveolar proteinosis.
Interstitial lung disease in children is uncommon, but it is important to be aware of as 50% of children present with a history of wheeze. Chronic idiopathic pulmonary haemosiderosis does not cause a ‘crazy paving’ pattern. It is a rare disorder (although common in exams) and when present in children usually presents before 3 years of age. Whilst a ‘crazy paving’ pattern was originally described as being typical of alveolar proteinosis, it has since been described in numerous conditions and as such a knowledge of these processes is necessary to differentiate them.
Pneumocystis jirovecii pneumonia would not normally be considered in the absence of a history of immunocompromise. Whilst NSIP can cause this appearance, in children it more typically has an upper zone and peripheral predominance with associated ground-glass changes and a degree of honeycombing. The imaging characteristics of NSIP, LIP and DIP overlap in children and often require lung biopsy to differentiate them. LIP is also usually associated with immunodeficiency disorders, as in adults. Sarcoidosis in children is very rare and usually presents in older children, around 13–15 years of age.
A 6-year-old presents to A&E with a history of a productive cough associated with green sputum and mild wheeze. This child had a similar event 2 years earlier. Clinical examination reveals mild tachypnoea and coarse breath sounds. A CXR is requested. Your consultant points out the salient findings on the CXR as being the presence of hyperinflation, possible areas of air trapping, peri-bronchial wall oedema bilaterally, subsegmental atelectasis in the right midzone, and slight perihilar haziness. Your consultant asks you what you would do with this child given the findings. What do you say? [B1 Q46]
A. Send them home and reassure the parents.
B. Repeat CXR in 4 weeks to look for resolution.
C. Start antibiotics and reassess in 2 weeks.
D. Do expiratory films to rule out inhaled foreign body.
E. Send them home and reassure the parents.
Send them home and reassure the parents.
This radiograph has all the classic hallmarks of a viral pneumonia in a child. Air-trapping is common due to the small airways, which become occluded secondary to peri-bronchial wall oedema. There is no focal consolidation or pleural effusion seen, features that would indicate a bacterial pneumonia requiring antibiotics. In children it is not necessary to repeat imaging to ensure appearances resolve if the symptoms settle. Bilateral inhaled foreign bodies, causing the bilateral air-trapping, would be very unusual, especially in a well child. Respiratory consult would only be indicated if the symptoms failed to settle or there was a significant associated history, e.g., CF.
A CT chest has been requested for a neonate in the neonatal ICU. This infant was born at 27 weeks’ gestation and developed right-sided PIE during the first week of life. The neonatologists practiced selective left bronchial intubation and no further air leak sequelae occurred. Also present on the CXR is a hyperlucent lesion in the right lower lobe. This is not clearly seen on the initial radiographs due to the generalized haziness present due to the surfactant deficiency. This lesion is not increasing in size and is not causing any significant respiratory embarrassment but requires further assessment to define treatment. On CT a focal lesion is present confined to the right lower lobe, which consists of multiple cystic structures with central linear densities. This area demonstrates mild expansion. What is the diagnosis?
A. Congenital cystic adenomatoid malformation.
B. Persistent PIE.
C. Congenital diaphragmatic hernia.
D. Congenital lobar emphysema.
E. Bronchogenic cyst.
Persistent PIE.
Although alluded to in the clinical scenario, this should not be assumed to be the most likely diagnosis in the absence of the CT findings, as this is an extremely uncommon condition. The CT findings provide the diagnosis due to the linear densities within the cystic cavities representing the bronchopulmonary bundle surrounded by air within the interstitial space. This appearance is seen in over 80% of cases. The abnormality is often confined to a single lobe but can be more widespread. Current optimal management is debated. Lesions increasing in size are thought to be best treated with surgical resection, with stable lesions often resolving over time with conservative management.
A 6-year-old girl is brought to your local paediatric outpatients with a history of night sweats, tiredness, and new onset wheeze not responding to bronchodilators. A CXR is done which shows increased mediastinal soft tissue noted superiorly. The paravertebral lines are maintained. The aortic knuckle is not visible. A lateral CXR has been carried out at the request of the paediatrician, which shows increased soft tissue displacing the trachea posteriorly, causing mild narrowing. What is the most likely diagnosis? [B1 Q70]
A. Tuberculosis.
B. Lymphangioma.
C. Bronchogenic cyst.
D. Thymic/nodal malignant infiltration.
E. Teratoma.
Thymic/nodal malignant infiltration.
The first step in this question is to localize the lesion. The posterior displacement of the trachea indicates an anterior mediastinal position. It is then necessary to consider the common causes of anterior mediastinal masses in children: normal thymus and thymic/nodal infiltration (leukaemia, lymphoma), with other causes (lymphangioma and teratoma) being much less common. A normal thymus would not be expected to cause significant posterior displacement of the trachea. On plain film it would not be possible to differentiate thymic infiltration from anterior mediastinal nodal infiltration. TB in children would be uncommon in the anterior mediastinum, especially when no abnormality is noted in the hila.
A four-year-old girl presents with persistent left upper lobe pneumonia with a finger-like opacity projecting from the hilum. The most likely diagnosis is: [B2 Q12]
a. Bronchial atresia
b. Intra-lobar sequestration
c. Staphylococcal pneumonia
d. Congenital lobar emphysema
e. Bronchogenic cyst
Bronchial atresia
The site and features described are characteristic of bronchial atresia.
A 14-year-old with thalassaemia presents with mild breathlessness. The only abnormality on the chest radiograph is a well-rounded opacity without any air bronchograms. The likely location would be: [B2 Q25]
a. Perihilar
b. Anterior mediastinal
c. Abutting the chest wall
d. Paravertebral
e. Apical
Paravertebral
Extramedullary haemopoiesis can present as uni/bilateral rounded masses in the lower paravertebral region commonly between T8 and T12. These are well defined, soft-tissue density masses which are usually bilateral and often found on routine imaging.
A 15-year-old girl referred for a chest radiograph demonstrates a large well-rounded mediastinal mass. CT suggests a teratoma. Which of the following is true? [B2 Q40]
a. They are often inseparable from the thymus
b. They are always anterior mediastinal
c. Rim enhancement indicates malignancy
d. A fat-fluid level is a common and specific sign
e. Homogenous soft-tissue density precludes a diagnosis of teratoma
They are often inseparable from the thymus
Mature teratomas can appear in the posterior mediastinum and occasionally demonstrate rim enhancement. A fat-fluid level is specific but uncommon. They may also sometimes resemble lymphoma with homogenous soft-tissue density.
A 7-year-old girl with repeated chest infections and chronic cough presents with another episode of acute exacerbation. She is known to have raised sodium and chloride in her sweat. Which of the following features is least likely on an HRCT of her chest? [B2 Q41]
a. Cylindrical bronchiectasis
b. Centrilobular emphysema
c. Segmental/subsegmental atelectasis
d. Branching intrabronchial soft tissue
e. Hilar lymphadenopathy
Centrilobular emphysema
This is a feature of cystic fibrosis. Centrilobular emphysema is uncommon; para-septal emphysema is more typical.
A 12-year-old boy with known Langerhans’ cell histiocytosis presents with tachypnoea, cough, and dyspnoea. A chest radiograph and then high-resolution CT are performed. What are the most likely findings? [B4 Q10]
a. Bilateral, symmetrical consolidation
b. Bronchiectasis
c. Reticulonodular changes in mid-zones
d. Bronchial wall thickening
e. Bilateral hilar lymphadenopathy
Reticulonodular changes in mid-zones
Langerhans’ cell histiocytosis typically shows reticulonodular changes in the mid and upper zones, often progressing to cysts and honeycombing
Sparing the costophrenic angles
A 7-year-old boy presents with a 1-week history of a cough productive of green sputum. He is pyrexial with a mildly raised white cell count. Which feature on the chest radiograph would be more suggestive of bacterial pneumonia than viral pneumonia? [B4 Q20]
a. Pleural effusion
b. Peri-bronchial cuffing
c. Atelectasis
d. Airspace opacification
e. Cavitation
Cavitation
Bacterial pneumonia can cause lobar consolidation or broncho-pneumonia, which may cavitate, while viral pneumonia typically affects airways and peri-bronchial tissues. Cavitation is uncommon in viral pneumonia.
An 18-month-old girl has a cough. A chest radiograph shows consolidation in the right upper lobe. This is treated and a follow-up chest radiograph is performed, which shows a triangular-shaped mass arising from the mediastinum projecting over the right upper lobe. This has a rippled border. What is the most appropriate next investigation? [B4 Q44]
a. CT of chest
b. Blood film
c. MR of chest
d. Denatured red blood cell scintigraphy
e. No further investigation
No further investigation
The mass is a normal thymus, commonly visible in children up to 2 years. It often has a characteristic triangular “sail sign” appearance with a rippled “wave sign” border.
A 3-year-old boy presents with a cough of 1 week’s duration. There is no relevant preceding history. A chest radiograph shows lucency in the right lower zone, and an expiratory film demonstrates air trapping in the same region as well as mediastinal shift to the left. No masses are seen. What is the likely diagnosis? [B4 Q59]
a. Foreign body aspiration
b. Congenital lobar emphysema
c. Congenital cystic adenomatoid malformation type I
d. Bronchiolitis obliterans
e. Bronchogenic cyst
Foreign body aspiration
This scenario is characteristic of foreign body aspiration, which often affects the lower lobes, with the right being most common. Lucency and air trapping are typical findings.
A 10-month-old presents with recurrent chest infections, the most recent caused by Pseudomonas aeruginosa. The chest radiograph shows patchy infiltrates in the right base. Which feature on high-resolution CT would make the diagnosis of cystic fibrosis more likely than Williams–Campbell syndrome? [B4 Q64]
a. Cystic bronchiectasis
b. Emphysematous bullae
c. Mucus plugging
d. Lower lobe involvement
e. Pleural effusions
Mucus plugging
Mucus plugging is a hallmark of cystic fibrosis and is not seen in Williams–Campbell syndrome, which is characterized by cystic bronchiectasis and bullous changes.
An 8-year-old child presents with high fever and left-side chest pain. The chest radiograph demonstrates a 3 cm round lesion in the left lower zone with ill-defined margins. No air bronchograms are seen. The most likely diagnosis is? [B5 Q2]
a. Mycoplasma infection
b. Tuberculosis
c. Round pneumonia
d. Solitary lung metastasis
e. Congenital cystic adenomatoid malformation
Round pneumonia
Round pneumonia is common in children and presents as a well-defined round opacity on the chest radiograph, often resolving rapidly with treatment.
You are attending a paediatric cardiac MRI list. The next patient is a 4-year-old girl who has undergone previous surgical correction of tetralogy of Fallot. Which of the following is the part of the report of most interest to the referring clinical team? [B1 Q6]
A. Pulmonary valve function.
B. Left ventricular function.
C. Presence of thrombus in the graft between IVC and pulmonary artery.
D. Situs position.
E. Ventricular septum.
Pulmonary valve function.
As a rule, pre-operative imaging of paediatric cardiac malformations focuses on the morphology, to allow accurate characterization of the abnormality pre-operatively. Post-operative imaging focuses more on function, to assess the success of the treatment given and need for further intervention. With regard to a corrected tetralogy of Fallot, the situs will be known, and the ventricular septum assessed and usually repaired at surgery. A graft between the systemic venous system and pulmonary artery is a feature of a Fontan/Glenn procedure and these are most carried out for tricuspid atresia, not tetralogy of Fallot. Assessment of the pulmonary valve, along with right ventricular function, is essential in this post-operative patient, as re-stenosis of the pulmonary valve or progressive right ventricular impairment are associated with increased morbidity.
A cardiac MRI is being carried out on an infant for a cono-truncal rotational abnormality. This infant has 150 clockwise rotations of the great vessels. What cono-truncal rotation abnormality does this infant have? [B1 Q20]
A. Normal rotation.
B. Situs inversus.
C. L-transposition.
D. D-transposition.
E. Double-outlet right ventricle.
Situs inversus.
The primitive truncus is a midline structure that persists to a degree in truncus arteriosus abnormality. During normal development, the truncus divides into the aortic and pulmonary trunks, which then undergo 150° anticlockwise rotation. In situs inversus, there is 150° clockwise rotation. Transposition of the great arteries (TGA) is characterized by 30° rotation, anticlockwise in D-TGA and clockwise in L-TGA. Double-outlet right ventricle displays 90° anticlockwise rotation.
A 4-day-old cyanosed infant is admitted as an emergency to SCBU following a home birth. The history is of episodes of severe cyanosis developing when the infant is distressed. A CXR is carried out and shows a normal mediastinal contour with slightly decreased pulmonary vascularity. What do you think the most likely cause of this infant’s cyanosis is based on these findings? [B1 Q55]
A. Truncus arteriosus.
B. Pulmonary valve atresia with an intact ventricular septum.
C. Pulmonary valve hypoplasia with a VSD and overriding aorta.
D. D-transposition of the great arteries.
E. Coarctation of the aorta.
Pulmonary valve hypoplasia with a VSD and overriding aorta.
These are the features of Tetralogy of Fallot. Even in the absence of radiology, this represents the most common form of congenital cyanotic heart disease. To help characterize congenital heart disease there are several features to note on the radiograph as well as clinically. The presence of cyanosis excludes coarctation, which does not cause cyanosis.
Truncus arteriosus (and total anomalous pulmonary venous return (TAPVR)) are associated with increased pulmonary flow, not reduced, as present in this case. Pulmonary valve atresia with an intact ventricular septum does have reduced pulmonary flow but would present earlier than four days and the heart is typically grossly enlarged, as in this anomaly there is no forward flow of blood out of the right ventricle.
D-transposition of the great arteries is classically described as giving an egg-on-a-string appearance due to the narrowed superior mediastinum caused by the abnormal rotation of the great vessels. This appearance is seldom seen as D-transposition presents early with cyanosis and is surgically corrected. The most common CXR appearance in an infant is a normal CXR. The pulmonary vascularity on the radiograph is either normal or increased, not decreased.
A two-week-old neonate presents with central cyanosis and respiratory distress. Plain chest radiograph reveals pulmonary plethora. Which is the most likely underlying congenital heart disease? [B2 Q3]
a. VSD
b. Tetralogy of Fallot
c. PDA
d. Pulmonary stenosis
e. Total anomalous pulmonary venous return (TAPVC)
Total anomalous pulmonary venous return (TAPVC)
VSD and PDA will both result in pulmonary plethora and distress but are left-to-right shunts and acyanotic. Pulmonary stenosis results in pulmonary oligaemia and may or may not be cyanotic depending on the presence of an intracardiac defect with shunt reversal. Tetralogy of Fallot is a congenital cyanotic heart disease with pulmonary oligaemia unless associated with the development of aorto-pulmonary collaterals. Apart from TAPVC, the admixture lesions such as truncus arteriosus, tricuspid atresia, transposition of great vessels, single ventricle and common atrium are some other causes of cyanosis with pulmonary plethora.
Cyanotic + pulmonary plethora:
TAPVR, Truncus, Transposition, Tricuspid Atresia.
Cyanotic + Pulmonary oligaemia:
TOF
Acyanotic + Pulmonary plethora:
VSD, PDA
A 4-month-old boy is having a barium swallow done in your department for suspected reflux. There is no relevant past medical history. On the AP view you notice a filling defect in the mid oesophagus. Your consultant recommends doing a lateral swallow to further assess this. This reveals a focal area of compression of the oesophagus anteriorly in the mid oesophagus. On the screening images you also notice a posterior impression on the trachea at this level. What is the most likely cause for this finding? [B1 Q11]
A. Duplication cyst.
B. Double aortic arch.
C. Lymphadenopathy.
D. Aberrant right subclavian artery.
E. Aberrant left pulmonary artery.
Aberrant left pulmonary artery. Pulmonary sling
Double aortic arch compresses the trachea anteriorly and the oesophagus posteriorly.
Aberrant right subclavian (with a left-sided aortic arch) causes posterior indentation of the oesophagus, but no indentation of the trachea. An identical appearance is seen on the lateral view with a right-sided aortic arch and an aberrant left subclavian.
Aberrant left pulmonary artery commonly presents any time up to early childhood, with stridor, wheezing, recurrent infections, and feeding problems being amongst the most common symptoms. It can be associated with a PDA or ASD.
A 7-year-old boy is being investigated for a history of mild exertional dyspnoea. A CXR has been carried out that shows normal lungs but does demonstrate a linear density passing inferiorly from the right lower hemithorax to the level of the diaphragm. A cardiac MRI has been requested, which shows normal pulmonary venous drainage on the left side. On the right side, the lower pulmonary vein drains into the right atrium, the superior pulmonary vein drains into the left atrium, and the arterial supply for the entire right lung arises from the pulmonary artery. No cardiac abnormality is identified. What form of abnormality does this child have? [B1 Q65]
A. Total anomalous pulmonary venous return.
B. Partial anomalous pulmonary venous return (PAPVR).
C. Extra lobar sequestration.
D. Cor tri-atriatum
E. Scimitar syndrome.
Partial anomalous pulmonary venous return (PAPVR).
This most commonly involves the right superior pulmonary vein, but in this case involves the inferior vein. This condition may remain asymptomatic for several years, depending on the amount of blood that returns anomalously. PAPVR can drain into the superior vena cava (SVC), right atrium, or IVC on the right and into the brachiocephalic vein or coronary sinus on the left.
Scimitar syndrome is a subtype of PAPVR that is associated with ipsilateral lung hypoplasia (hence alternative name hypogenetic lung syndrome) and occasionally dextrocardia. As noted in the history, the lungs were normal. Extralobar sequestrations have aberrant pulmonary arterial supply, not present in this case. Total anomalous pulmonary venous return presents in childhood.
You are attending a paediatric cardiac MRI list. The next patient is a 4-year-old girl who has undergone previous surgical correction of tetralogy of Fallot. Which of the following is the part of the report of most interest to the referring clinical team?
A. Pulmonary valve function.
B. Left ventricular function.
C. Presence of thrombus in the graft between IVC and pulmonary artery.
D. Situs position.
E. Ventricular septum.
Pulmonary valve function.
Post-operative imaging focuses more on function to assess the success of treatment and the need for further intervention. For corrected tetralogy of Fallot, assessment of the pulmonary valve is critical as re-stenosis of the valve or progressive right ventricular impairment are linked to increased morbidity.
A cardiac MRI is being carried out on an infant for a cono-truncal rotational abnormality. This infant has 150 clockwise rotations of the great vessels. What cono-truncal rotation abnormality does this infant have?
A. Normal rotation.
B. Situs inversus.
C. L-transposition.
D. D-transposition.
E. Double-outlet right ventricle.
Situs inversus.
The primitive truncus normally undergoes 150° anticlockwise rotation. In situs inversus, this rotation occurs clockwise, distinguishing it from the 30° rotation seen in transposition of the great arteries (TGA).
A 4-day-old cyanosed infant is admitted as an emergency to SCBU following a home birth. The history is of episodes of severe cyanosis developing when the infant is distressed. A CXR is carried out and shows a normal mediastinal contour with slightly decreased pulmonary vascularity. What do you think the most likely cause of this infant’s cyanosis is based on these findings?
A. Truncus arteriosus.
B. Pulmonary valve atresia with an intact ventricular septum.
C. Pulmonary valve hypoplasia with a VSD and overriding aorta.
D. D-transposition of the great arteries.
E. Coarctation of the aorta.
Pulmonary valve hypoplasia with a VSD and overriding aorta.
These are features of tetralogy of Fallot (TOF), the most common cause of congenital cyanotic heart disease. The radiograph helps exclude other conditions such as truncus arteriosus, which presents with increased pulmonary flow, or coarctation, which does not cause cyanosis.
A two-week-old neonate presents with central cyanosis and respiratory distress. Plain chest radiograph reveals pulmonary plethora. Which is the most likely underlying congenital heart disease?
A. VSD
B. Tetralogy of Fallot
C. PDA
D. Pulmonary stenosis
E. Total anomalous pulmonary venous return (TAPVC)
Total anomalous pulmonary venous return (TAPVC).
TAPVC, an admixture lesion, results in pulmonary plethora and cyanosis. VSD and PDA are left-to-right shunts and acyanotic. Tetralogy of Fallot shows pulmonary oligaemia, not plethora.
A 4-month-old boy is having a barium swallow done for suspected reflux. The AP view shows a filling defect in the mid-oesophagus. Lateral view reveals a focal area of compression of the oesophagus anteriorly and posterior impression on the trachea. What is the most likely cause for this finding?
A. Duplication cyst.
B. Double aortic arch.
C. Lymphadenopathy.
D. Aberrant right subclavian artery.
E. Aberrant left pulmonary artery.
Aberrant left pulmonary artery.
This condition, presenting with stridor and feeding problems, causes anterior oesophageal and posterior tracheal compression, unlike a double aortic arch which compresses the oesophagus posteriorly and trachea anteriorly.
A 14-year-old patient with Turner syndrome presents with severe headache, upper limb hypertension, and a murmur. What is the most likely finding on the plain films?
A. Boot-shaped heart
B. Snowman sign
C. Figure-of-three sign
D. Egg-on-a-string sign
E. Scimitar sign
Figure-of-three sign: Coarctation of the aorta.
boot-shaped: Tetralogy of Fallot
box shaped: Ebstein anomaly.
Snowman sign: Supra-cardiac TAPVD.
An abdominal CT in a neonate with major congenital abnormalities demonstrates a large central liver and absence of spleen. What feature is likely on chest CT?
A. Absence of the minor fissure on the right
B. Hyparterial bronchus on the right
C. Presence of three lobes on the left
D. Tubular appendages bilaterally
E. Absence of SVC
Presence of three lobes on the left.
This neonate has heterotaxy with right atrial isomerism, leading to bilateral trilobed lungs and associated with bilateral SVCs and eparterial bronchus.
A male neonate is born at 40 weeks’ gestation. There is a history of polyhydramnios during pregnancy. During baby checks, the baby is noted to have a sacral dimple. At this time, the mother reports that the baby has been unable to feed properly during the initial 24 hours, during which it dribbles and spits out milk. She also reports the baby has had recurrent coughing episodes. The paediatrician is unable to pass a nasogastric tube and suspects a tracheoesophageal fistula. A contrast swallow is requested. This demonstrates termination of the proximal oesophagus, with a fistulous connection between the proximal oesophagus and the trachea. Contrast does not pass into the distal oesophagus. What class of tracheoesophageal fistula is this likely to be? [B1 Q60]
A. Type A.
B. Type B.
C. Type C.
D. Type D.
E. Type E.
Type B.
Tracheoesophageal fistulae are classed depending on the communications present between the trachea and the oesophagus. In types A–D the mid-portion of the oesophagus is absent. Type A are not truly fistulae but consist of an absence of the mid-portion of the oesophagus. In type B the proximal oesophageal bud communicates with the trachea and in type C it is the distal bud that has a tracheal fistula. Type C is the most common subtype. Both proximal and distal buds have fistulous connections with the trachea in type D. Type E (or H type) tracheoesophageal fistulae have complete trachea and oesophagus with a fistulous connection between them resembling the letter H.
Which of the following is the most common type of tracheoesophageal fistula (TOF)? [B3 Q37]
A. Oesophageal atresia and proximal atretic portion and location of fistulas
B. Pure oesophageal atresia without TOF
C. Isolated TOF (H type) without oesophageal atresia
D. Oesophageal atresia with proximal and distal TOF
E. Oesophageal atresia with proximal TOF and distal atretic portion
Oesophageal atresia and proximal atretic portion and location of fistulas
82% are of this type.
A new-born baby presents with coughing and choking during feeding. On examination, the baby is noted to drool excessively. Attempted passage of a feeding tube into the stomach is unsuccessful, and a chest radiograph shows the coiled feeding tube in the proximal oesophagus. An abdominal radiograph demonstrates gas within the stomach. What is the most likely diagnosis? [B4 Q13]
a. oesophageal atresia alone
b. oesophageal atresia and proximal tracheo-oesophageal fistula
c. oesophageal atresia and distal tracheo-oesophageal fistula
d. oesophageal atresia with proximal and distal tracheo-oesophageal fistulae
e. tracheo-oesophageal fistula without oesophageal atresia
Oesophageal atresia and distal trachea-oesophageal fistula
Oesophageal atresia is suspected when a new-born baby presents with drooling, and is confirmed on a chest radiograph by the presence of a gas-distended, proximal oesophageal pouch, or a coiled feeding tube within the pouch. Absence of gas in the abdomen on an abdominal radiograph implies oesophageal atresia either alone or with a proximal fistula. However, gas within the abdomen implies the presence of a distal tracheo-oesophageal fistula. Occasionally, there may be both proximal and distal tracheo-oesophageal fistulae, but this situation is rare, accounting for only 1% of patients, as opposed to around 80% with distal fistula alone. Oesophageal atresia and tracheo-oesophageal fistula may be part of the VACTERL association, which includes vertebral, anorectal, cardiovascular, tracheo-oesophageal fistula, renal and limb anomalies.
An asymptomatic, 15-month-old girl is brought to the emergency department following witnessed ingestion of a hearing aid battery. A junior casualty officer asks for your advice about whether the patient requires imaging. What is the most appropriate imaging strategy? [B4 Q72]
a. reassurance that imaging is not indicated
b. patient to return for imaging if battery not passed within 48 hours
c. abdominal radiograph (and chest radiograph if abdominal radiograph negative)
d. ultrasound scan of the abdomen
e. patient to be referred straight for endoscopic removal
Abdominal radiograph (and chest radiograph if abdominal radiograph negative)
Generally, in the case of ingested foreign bodies, a chest radiograph (including neck) at initial presentation is indicated. An abdominal radiograph is usually considered after 6 days only if there is doubt whether the foreign body has passed.
However, if a sharp or potentially poisonous foreign body has been ingested, an abdominal radiograph is indicated at the time of presentation; a chest radiograph is indicated if the abdominal film is negative.
Ingestion of disc batteries (small, coin-shaped batteries found in hearing aids, watches and calculators) may be associated with serious sequelae, particularly if the battery becomes lodged in the oesophagus, as is more likely with younger children and larger batteries. In this situation, leakage of alkaline material, and sodium hydroxide generated by electrolysis at the anode, can cause ulceration and perforation within a relatively short time. Radiography is indicated to locate the battery. If it lies within the oesophagus, emergency endoscopic removal is indicated. Batteries located beyond the oesophagus rarely require endoscopic removal unless subsequent radiographs indicate delay in transit of the battery.
A 6-week-old neonate presents with several episodes of bilious vomiting. You suspect the child may have a malrotation. Which of the following findings on imaging is the most specific for midgut volvulus having occurred? [B1 Q15]
A. Reversal of the normal orientation of the superior mesenteric artery and vein on ultrasound.
B. High medial position of the caecum on a contrast enema.
C. Positioning of the duodenal-jejunal flexure to the right of midline on an upper GI contrast study.
D. Duodenal-jejunal corkscrew appearance on an upper GI contrast study.
E. Duodenal obstruction on an upper GI contrast study.
Duodenal-jejunal corkscrew appearance on an upper GI contrast study.
In individuals with malrotation, the mesenteric attachment of the midgut, particularly the portion from the duodenal-jejunal junction to the caecum, is abnormally short. The gut is therefore prone to twist counterclockwise around the superior mesenteric artery and vein—midgut volvulus. Options A to C are all imaging findings in malrotation, but not specifically that midgut volvulus has occurred. Regarding option E, duodenal obstruction can, of course, be seen with midgut volvulus, but obstruction may also occur due to obstructive bands and there is also an increased risk of congenital duodenal anomalies in malrotation, such as duodenal atresia, stenosis, and webs.
It is the finding of an abnormally located duodenal-jejunal flexure and a corkscrew appearance to the duodenum and proximal jejunum that is the most specific for malrotation complicated by midgut volvulus.
A 2-week-old boy was admitted with bilious vomiting. Plain radiographs show a dilated gastric gas shadow. An upper gastrointestinal contrast study shows a partial duodenal obstruction and the duodenojejunal flexure positioned in the right abdomen. An ultrasound demonstrates that the mesentery and superior mesenteric vein ‘whirls’ around the superior mesenteric artery in a clockwise pattern. The most likely cause of these findings is: [B5 Q6]
a. Nonrotation of gut
b. Incomplete rotation
c. Reversed rotation with midgut volvulus
d. Reversed rotation of midgut
e. Malrotation with midgut volvulus
Malrotation with volvulus
Bilious vomiting in newborn infants is most likely to represent malrotation with midgut volvulus. The duodenojejunal flexure is on the right and CT or ultrasound demonstrates a ‘whirl sign’ of superior mesenteric vein and mesenteric vessels around the superior mesenteric artery.
A 6-day-old neonate presents with persistent vomiting. A plain x-ray of abdomen shows a
dilated stomach and proximal duodenum, suggesting a high-grade duodenal obstruction. A
subsequent upper GI contrast study confirms obstruction in the second part of the duodenum
with a ‘windsock’ type deformity evident. What is the most likely diagnosis? [B1 Q24]
A. Duodenal atresia.
B. Midgut volvulus.
C. Annular pancreas.
D. Preduodenal portal vein.
E. Duodenal web.
Duodenal web. A duodenal web is classically associated with the ‘windsock sign’ seen on an upper GI contrast study. Over time, the web or diaphragm passively elongates because of continual peristalsis, to form the windsock configuration of an intraluminal duodenal diverticulum. Duodenal atresia is commonly associated with the ‘double bubble’ appearance on AXR. The atresia is most commonly just distal to the ampulla of Vater. Associated anomalies are common, such as congenital heart disease, Down’s syndrome, and malrotation. Midgut volvulus is usually a complication of malrotation. The AXR may be normal, gasless, or show signs of duodenal/high small bowel obstruction. The upper GI contrast study shows an abnormal position of the duodenal-jejunal flexure (to the right of midline) or duodenal obstruction in severe cases. More often the volvulus is intermittent, when the ‘corkscrew’ appearance is classical, due to clockwise twisting of the jejunum around the superior mesenteric artery. Annular pancreas and preduodenal portal vein are exceedingly rare. In preduodenal portal vein (persistent left vitelline vein), the portal vein lies in an abnormal position anterior to the duodenum and may cause compression. However, in this entity, the primary obstruction is more usually due to an associated obstructing duodenal lesion, such as an intraluminal membrane or web, and not to the abnormal position of the vein.
A newborn with Down’s syndrome presents with bilious vomiting. The mother had polyhydramnios during pregnancy. The radiograph of chest and abdomen demonstrated a ‘double bubble’ sign. No intestinal gas is seen in the rest of abdomen. The most likely diagnosis is? [B5 Q8]
(a) Intestinal duplication
(b) Choledochal cyst
(c) Annular pancreas
(d) Midgut volvulus
(e) Duodenal atresia
Duodenal atresia
The ‘double bubble’ sign can be seen in duodenal atresia, midgut volvulus, or annular pancreas, but the absence of gas in the rest of the abdomen suggests underlying duodenal atresia. Duodenal atresia is also associated with Down’s syndrome and maternal hydramnios. Annular pancreas usually presents at a later age (if symptomatic). Midgut volvulus is seen in young infants. Some gas is seen distal to the duodenum. Choledochal cyst is seen in children and young adults with biliary symptoms.
A term neonate presents with bilious vomiting, abdominal distension, and failure to pass meconium. An abdominal radiograph shows dilated loops of bowel. A contrast enema shows a microcolon with ‘rabbit pellet’ filling defects in the ileum. What is the most likely diagnosis? [B5 Q33]
(a) Meconium ileus
(b) Hirschsprung’s disease
(c) Imperforate anus
(d) Meconium plug syndrome
(e) Ileal atresia
Meconium ileus
Meconium ileus is almost diagnostic of cystic fibrosis and presents in neonates. Family history of CF may be present. The abnormally thick meconium obstructs the ileum and a water-soluble enema may relieve the impaction. This disorder leads to microcolon because the obstructing meconium leaves the colon unused.
Meconium plug syndrome is also known as functional immaturity of the colon. It is a temporary functional obstruction which often occurs at the splenic flexure and is a common cause of neonatal obstruction.
A newborn presents with abdominal distension and vomiting. A supine radiograph of chest and abdomen shows a well-rounded area of calcification in abdomen and relative paucity of gas. On ultrasound, there is a 5 cm cyst with wall calcification and echogenic material in the cyst. There is highly echogenic material between bowel loops. What is the most likely diagnosis? [B5 Q34]
(a) Cystic fibrosis
(b) Meconium peritonitis
(c) Normal variant
(d) Intra-abdominal teratoma
(e) Fetal gallstones
Meconium peritonitis
This is a sterile chemical peritonitis, secondary to perforation of bowel resulting in prenatal leak of meconium into the peritoneal cavity. This is usually secondary to bowel obstruction and perforation in utero. Meconium peritonitis usually results in intraperitoneal calcifications, which may be focal, cystic, or generalised. On plain films, the primary finding is calcifications. On ultrasound, there may be cysts with echogenic walls (calcifications) containing meconium. Calcifications usually disappear over months or years.
A 6-week-old girl presents with persistent, non-bilious vomiting. Plain abdominal radiograph shows a distended stomach with gas with paucity of gas distally. Ultrasound shows an elongated pyloric canal measuring 17 mm, with a thickened muscularis measuring 7 mm. What is the most likely diagnosis? [B5 Q42]
(a) Gastroesophageal reflux
(b) Pylorospasm
(c) Hypertrophic pyloric stenosis
(d) Duodenal atresia
(e) Malrotation
Hypertrophic pyloric stenosis
Ultrasound is diagnostic of this condition, including an elongated pyloric canal (> 15 mm) and thick pyloric muscle (> 3 mm).
A 4-month-old child presents with abdominal distension and signs of obstruction. A plain film of abdomen shows mild small bowel distension with some displacement of loops in the lower abdomen and pelvis by a homogenous density. A subsequent ultrasound of the abdomen and pelvis shows a 7-cm cystic lesion in the lower abdomen. It is anechoic but has a definable wall that has an inner echogenic line and an outer hypoechoic layer. What is the most likely diagnosis? [B1 Q34]
(a) Mesenteric cyst
(b) Omental cyst
(c) Ovarian cyst
(d) Lymphangioma
(e) Duplication cyst
Duplication cyst
The most common location for duplication cysts is in the terminal ileum. This is followed by oesophagus, duodenum, and stomach. Duplication cysts contain both mucosal and muscle layers. On ultrasound, the mucosa is represented by an inner echogenic line and the muscle as an outer hypoechoic layer. The cyst is usually anechoic unless complicated by haemorrhage or infection. Lymphangiomas, mesenteric, and omental cysts are rare. On ultrasound, they are usually anechoic unless complicated by debris, haemorrhage, or infection. The wall is usually thin and does not have the double layer associated with duplication cysts. Ovarian cysts arise from the pelvis and will not have the layered wall appearance of a duplication cyst.
Which of the following is most likely to be a feature of an enteric duplication cyst? [B3 Q34]
(a) Multilocular nature
(b) Hypoechoic internal layer
(c) Echogenic outer layer
(d) Layered echogenic debris within cyst
(e) Dense calcification
Layered echogenic debris within cyst
Often an incidental finding on antenatal/postnatal US, most present in childhood. May become symptomatic due to compression effect on adjacent structures. Complications include ulceration, bleeding, volvulus, and small bowel obstruction.
Which is the most common location for enteric duplication cysts? [B3 Q35]
(a) Ileum
(b) Oesophagus
(c) Colon
(d) Jejunum
(e) Stomach
Ileum
A 5-year-old, previously well girl is found to have a palpable abdominal mass. Ultrasound scan demonstrates a 5 cm cystic lesion in the right upper quadrant. The wall of the lesion has an outer hypoechoic layer and an inner echogenic layer. The remainder of the abdomen appears normal. What is the most likely diagnosis? [B4 Q8]
(a) Wilms’ tumour
(b) Ovarian cyst
(c) Pancreatic pseudocyst
(d) Duplication cyst
(e) Choledochal cyst
Duplication cyst
Gastrointestinal duplication cysts account for 15% of paediatric abdominal masses. They most commonly arise from the small bowel and colon, and although usually asymptomatic, those that contain ectopic gastric or pancreatic tissue may present with ulceration or haemorrhage. Contrast studies are not useful for diagnosis, as most cysts do not communicate with the bowel lumen. Ultrasound scan is the most appropriate technique and demonstrates a simple anechoic cyst with a characteristic two-layered wall, representing the inner echogenic mucosa and the outer hypoechoic muscle. These appearances are characteristic of bowel wall and help to distinguish a duplication cyst from other cystic lesions such as ovarian cyst, which are typically thin walled. Pancreatic pseudocyst is unlikely in the absence of previous episodes of pancreatitis.
A 6-day-old neonate presents with persistent vomiting. A plain x-ray of abdomen shows a dilated stomach and proximal duodenum, suggesting a high-grade duodenal obstruction. A subsequent upper GI contrast study confirms obstruction in the second part of the duodenum with a ‘windsock’ type deformity evident. What is the most likely diagnosis? [B1 Q24]
A. Duodenal atresia.
B. Midgut volvulus.
C. Annular pancreas.
D. Preduodenal portal vein.
E. Duodenal web.
Duodenal web.
A duodenal web is classically associated with the ‘windsock sign’ seen on an upper GI contrast study. Over time, the web or diaphragm passively elongates because of continual peristalsis, to form the windsock configuration of an intraluminal duodenal diverticulum.
Duodenal atresia is commonly associated with the ‘double bubble’ appearance on AXR. The atresia is most commonly just distal to the ampulla of Vater. Associated anomalies are common, such as congenital heart disease, Down’s syndrome, and malrotation.
Midgut volvulus is usually a complication of malrotation. The AXR may be normal, gasless, or show signs of duodenal/high small bowel obstruction. The upper GI contrast study shows an abnormal position of the duodenal-jejunal flexure (to the right of midline) or duodenal obstruction in severe cases. More often the volvulus is intermittent, when the ‘corkscrew’ appearance is classical, due to clockwise twisting of the jejunum around the superior mesenteric artery.
Annular pancreas and preduodenal portal vein are exceedingly rare. In preduodenal portal vein (persistent left vitelline vein), the portal vein lies in an abnormal position anterior to the duodenum and may cause compression. However, in this entity, the primary obstruction is more usually due to an associated obstructing duodenal lesion, such as an intraluminal membrane or web, and not to the abnormal position of the vein.
A 1-month-old girl has liquid discharge from the umbilicus. Which of the following provides a suitable explanation? [B4 Q36]
a. vesico-urachal diverticulum
b. urachal cyst
c. patent urachus
d. bladder exstrophy–epispadias complex
e. cloacal exstrophy
Patent urachus
Embryologically, the cloaca is divided by the uro-rectal septum into a dorsal part that develops into the rectum and a ventral part that gives rise to the allantois, bladder and urogenital sinus. The wolfian and Mullerian ducts drain into the ventral cloaca. The allantois becomes the urachus, which is the umbilical attachment of the bladder. Ordinarily, this atrophies to become the umbilical ligament. If it remains patent throughout its entire length, urine can drain via the umbilicus. A urachal sinus and a vesico-urachal diverticulum describe patent portions of the urachus at the umbilical and bladder ends respectively.
A pregnant mother is having an antenatal foetal anomaly scan and the ultra-sonographer asks for your opinion on a large hernia arising from the anterior abdominal wall of the foetus, to try and determine between an omphalocele and a gastroschisis. Which of the following findings makes an omphalocele more likely than a gastroschisis? [B1 Q54]
A. The lack of a peritoneal covering.
B. The presence of the stomach in the herniated defect.
C. The umbilical cord inserting at the apex of the hernia.
D. The site of the hernia slightly lateral to the midline.
E. The lack of any other associated congenital anomalies.
The umbilical cord inserting at the apex of the hernia.
Omphalocele is the total failure of the midgut to return to the peritoneal cavity during the tenth week of gestation. The contents may vary from a single loop of small bowel to the entire GI tract, including the liver. An omphalocele can be differentiated from a gastroschisis (rupture of the abdominal wall) because in an omphalocele, the herniated structures are covered by peritoneum and amnion, and the umbilical cord inserts at its apex. In gastroschisis, there is a normally positioned umbilicus and the hernia is through a para-umbilical defect. Because this (probably ischaemic) rupture of the abdominal wall occurs after the bowel has returned to the peritoneal cavity, the protruding viscera are not covered in peritoneum. The contents of the hernia in gastroschisis include stomach, midgut, and occasionally portions of the urinary tract. In omphalocele, there may be associated congenital cardiac anomalies and there is also an association with Beckwith Wiedeman syndrome. There is a low incidence of additional anomalies in gastroschisis.
A neonate presenting with respiratory distress and a scaphoid abdomen is diagnosed with congenital diaphragmatic hernia following imaging. Which of the following is true? [B2 Q28]
a. Right-sided hernia is frequently fatal
b. The anterior hernias are larger
c. The stomach is the commonest viscera to herniate
d. Morgagni hernia present earlier
e. Early intrauterine diagnosis is associated with an improved prognosis
Right-sided hernia is frequently fatal
Whilst congenital diaphragmatic hernias are commoner on the left, right-sided ones are frequently fatal. Anterior (Morgagni) hernia is usually smaller and presents in childhood, whilst posterior (Bochdalek) hernia is larger and presents early. Small bowel is the commonest viscera to herniate. Intrauterine diagnosis before 25 weeks is an indicator of poor outcome.
A neonate is found to have hypotonic abdominal wall musculature, and further investigations reveal bowel malrotation and cryptorchidism. Which of the following conditions is most likely? [B2 Q33]
a. Prune belly syndrome
b. Zellweger syndrome
c. Wolman disease
d. Meckel–Gruber syndrome
e. Wunderlich syndrome
Prune belly syndrome
Prune belly syndrome is a non-hereditary disorder occurring in males with a triad of abdominal wall muscular hypoplasia, bilateral cryptorchidism and distended non-obstructed ureters. Other associations include malrotation of the gastro-intestinal tract, intestinal atresia, cystic renal dysplasia, vesico–ureteric reflux, pulmonary hypoplasia and cardiac anomalies (including PDA, tetralogy of Fallot and VSD).
Antenatal ultrasound reveals a foetus with bowel loops seen outside the abdominal cavity and within the amniotic fluid. Which one of the following associated features would support a diagnosis of gastroschisis rather than exomphalos? [B2 Q58]
a. Liver herniation through the defect
b. Foetal ascites
c. Defect situated to the right of the midline
d. Defect involving the whole length of the anterior abdominal wall
e. Associated cardiovascular anomalies
Defect situated to the right of the midline
Gastroschisis tends to be a small defect (often less than 2.5 cm in length) which occurs to the right of the midline. The herniated bowel does not have a peritoneal lining and floats freely within the amniotic fluid. Features suggesting exomphalos include the presence of other congenital anomalies, midline defect, foetal ascites, herniation of the liver, amnio-peritoneal membrane covering the bowel and the defect covering a large extent of the anterior abdominal wall.
Regarding congenital diaphragmatic hernias: [B3 Q30]
A. Most commonly right-sided
B. Of Bochdalek type are anterior
C. Of Morgagni are posterior
D. Are associated with pulmonary hypoplasia
E. Are mostly diagnosed by postnatal ultrasound
Are associated with pulmonary hypoplasia
Most congenital diaphragmatic hernias are diagnosed by antenatal ultrasound and are left-sided. Bochdalek hernias are posterior and common. Morgagni hernias are anterior and rare.
A baby boy is investigated for renal failure. The imaging findings are of bladder distension and a posterior urethral valve, ureters measuring 10 mm in diameter bilaterally, undescended testes and widely separated abdominal rectus muscles. What is the most likely diagnosis? [B4 Q9]
a. prune-belly syndrome
b. primary vesico-ureteric reflux
c. developmental aperistalsis of the distal ureter
d. neuropathic bladder
e. posterior urethral valves
Prune-belly syndrome
This is a triad of incomplete abdominal wall musculature, bladder dysfunction due to urinary tract anomalies and cryptorchidism. Features of prune-belly syndrome may include bladder distension and dilated ureters due to posterior urethral valves, undescended testes, and widely separated rectus abdominal muscles.
A 6-month-old boy is brought to your attention with poor weight gain and development, with palpable abdominal masses noted on examination. A renal ultrasound shows bilateral enlarged kidneys and moderate hydro-nephrosis. Which of the following would be the most likely diagnosis? [B3 Q12]
a. renal cell carcinoma
b. infantile polycystic kidney disease
c. hydronephrosis
d. posterior urethral valves
e. multicystic dysplastic kidneys
Infantile polycystic kidney disease
The infantile form of this condition can present in early infancy with poor growth, abdominal masses and renal failure, due to the presence of cystic kidneys which cause compression of renal parenchyma, causing obstructive symptoms. In some cases, there can also be associated pulmonary hypoplasia.
An 8-month-old boy is seen in the emergency department with a history of abdominal pain and bilious vomiting for 2 days. Examination reveals a palpable abdominal mass and he is in the early stages of shock. Which of the following is most likely to be the diagnosis? [B2 Q39]
A. appendicitis
B. intestinal obstruction
C. intussusception
D. congenital intestinal malrotation
E. meconium ileus
Intussusception
This is the most common cause of bowel obstruction in infants, usually affecting those aged between 6 months and 2 years. Bilious vomiting, abdominal pain and a palpable abdominal mass are classic features, which would lead to surgical intervention. Appendicitis is rare in this age group and would not typically present with a palpable mass in the right iliac fossa. Congenital intestinal malrotation typically presents earlier in life, whereas meconium ileus usually presents in newborns with cystic fibrosis.
A new-born presents with severe respiratory distress. The supine radiograph shows marked shift of the heart and mediastinum from left to right. The left side of the chest contains multiple tubular radiolucencies and the abdomen is gasless. What is the most likely diagnosis? [B5 Q37]
(a) Congenital cystic adenomatoid malformation
(b) Pulmonary hypoplasia
(c) Congenital diaphragmatic hernia
(d) Foreign body aspiration
(e) Bronchopulmonary sequestration
Congenital diaphragmatic hernia
This is a common surgical cause of respiratory distress. Herniation of abdominal contents occurs through a posterolateral diaphragmatic defect or persistent pleuroperitoneal canal. The abdomen is gasless secondary to migration of bowel into chest. Intestinal malrotation and pulmonary hypoplasia is seen in almost all cases.
In neonates with congenital cystic adenomatoid malformation, the chest radiograph may show a soft tissue mass in the chest, which becomes filled with air as fluid is reabsorbed over a few hours.
A 12-year-old boy was diagnosed with prune belly syndrome. Which of the following statements is false? [B5 Q46]
(a) It is seen exclusively in men
(b) Bilateral undescended testis
(c) Abdominal wall deficiency
(d) Non-obstructed and dilated ureters
(e) Non-hereditary multisystem disorder
Non-hereditary multisystem disorder
Prune belly syndrome is a congenital non-hereditary multisystem disorder, almost exclusive to men (M
= 19:1).
A triad of abdominal wall deficiency, non-obstructed dilated redundant ureters and bilateral undescended testes is seen.
A neonate is born at 34 weeks’ gestation. During the first week of life, it presents with bloody diarrhoea and abdominal distension. You wonder about the possibility of necrotising enterocolitis. Which one of the following radiological investigations is unlikely to be helpful in the acute setting? [B1 Q64]
A. Supine AXR.
B. Left lateral decubitus AXR.
C. Water-soluble contrast enema.
D. Ultrasound of abdomen.
E. Supine cross-table lateral AXR.
Water-soluble contrast enema.
This is rarely, if ever, indicated in the acute phase of necrotizing enterocolitis (NEC). It may be used for the evaluation of the presence of strictures, usually approximately 6–12 months after the acute phase of NEC.
Supine AXR is the primary method used to evaluate NEC. A ‘jumbled’ pattern may be seen secondary to bowel wall oedema, which either compresses the lumen in some areas or causes an ileus appearance in other areas. Pneumatosis may be seen, which is either ‘bubbly’ or linear. This can lead to air in the portal venous system, which does not appear to alter the morbidity or mortality.
Perforation:
Supine AXR: Rigler’s sign (air on both sides of the bowel wall) or the ‘football sign’ (air outlining the falciform ligament).
Left lateral decubitus and supine cross-table AXRs: detect small quantities of free air.
Abdominal ultrasound may be helpful in the acute setting of NEC, as it can depict intraabdominal fluid, bowel wall thickening, assess bowel wall perfusion, and may also detect small quantities of free air and portal venous gas.
At a routine 20-week obstetric ultrasound scan, polyhydramnios with multiple foci of scattered calcifications are found throughout the foetal abdomen in between bowel loops. Which one of the following is most likely to be the underlying cause? [B2 Q47]
a. Mesenteric ischaemia
b. Meconium peritonitis
c. Meconium plug syndrome
d. Necrotising enterocolitis
e. Gastroschisis
Meconium peritonitis
These features are typical of meconium peritonitis. This is a chemical peritonitis secondary to bowel perforation in utero. The intraperitoneal meconium characteristically calcifies within 24 hours of perforation. Other features seen on ultrasound include fetal ascites, poly-hydramnios and bowel dilatation.
A 2-day-old, full-term baby boy is found to have a palpable abdominal mass during a routine examination. He is otherwise well. A plain abdominal radiograph demonstrates a well-defined, dense mass containing multiple calcifications in the right lower quadrant. What is the most likely diagnosis? [B4 Q3]
a. neuroblastoma
b. duplication cyst
c. meconium peritonitis
d. meconium ileus
e. Hirschsprung’s disease
Meconium peritonitis
Meconium peritonitis is a chemical peritonitis that occurs in utero following perforation of bowel as a result of bowel obstruction or ischaemia. Most commonly, the perforation seals off in utero, but the extruded meconium may be palpable as an abdominal mass, or may become calcified and therefore visible on plain film as a dense calcified mass or as calcific plaques throughout the peritoneal cavity. It may also be identified on ultrasound scan as echogenic material between bowel loops with a ‘snowstorm’ appearance. In other cases, active perforation is still present at birth, and the baby presents with clinical peritonitis. Meconium ileus may result in abdominal calcifications in the neonate, but these are intramural in location. Hirschsprung’s disease and other causes of intestinal obstruction may be associated with intraluminal calcifications in the neonate. Neuroblastoma is frequently associated with calcification but is suprarenal in location and usually symptomatic. Duplication cysts are not usually associated with calcification.
A 32-week infant born prematurely to a mother with a respiratory condition presents with diarrhoea, progressive abdominal distension and failure to thrive. Abdominal radiography shows air in the periphery of the liver and non-specific bowel distension. Ultrasound shows free fluid between the bowel loops. What is the most likely diagnosis? [B5 Q32]
(a) Necrotising enterocolitis
(b) Intestinal volvulus
(c) Malrotation
(d) Gastroenteritis
(e) Hirschsprung’s disease
Necrotising enterocolitis
Ischaemic bowel disease secondary to hypoxia, perinatal stress and infections. The terminal ileum is commonly involved and the bowel loops show wall thickening and intramural air. Gas may be seen in the porto-venous system in the liver.
A young boy presents with abdominal pain and vomiting. Ultrasound of the abdomen confirms ileocolic intussusception. Which one of the following features is associated with a good chance of successful hydrostatic reduction? [B2 Q36]
a. Symptom history of greater than 48 hours
b. Small bowel obstruction
c. Presence of blood flow within the intussusceptum
d. Passage of blood per rectum
e. Age less than three months
Presence of blood flow within the intussusceptum
The following criteria are associated with a lower rate of successful enema reduction: age less than three months or greater than five years, long duration of symptoms, passage of blood per rectum, significant dehydration, obstruction of the small intestine and visualisation of the dissection sign during enema therapy.
An 11-year-old boy presents with fever, vomiting and right lower quadrant pain. Ultrasound scan of the right lower quadrant demonstrates a blind-ending, compressible, fluid-filled, tubular structure measuring 4 mm in diameter, as well as enlarged mesenteric lymph nodes and several thickened loops of small bowel. What is the most likely diagnosis? [B4 Q95]
a. acute appendicitis
b. mesenteric lymphadenitis
c. Crohn’s disease
d. Meckel’s diverticulum
e. enteric duplication cyst
Mesenteric lymphadenitis
Mesenteric lymphadenitis is an inflammatory process affecting the mesenteric lymph nodes; it is most frequently caused by viral infection but also by Yersinia enterocolitica and other pathogens. It affects children and young adults, and clinically mimics acute appendicitis. Imaging findings are of enlarged mesenteric lymph nodes, and ileal and colonic wall thickening. The normal appendix must be visualized to differentiate it from acute appendicitis. Features of acute appendicitis on ultrasound scan are of a blind-ending, non-compressible, tubular, aperistaltic, fluid-filled structure measuring over 6 mm in diameter. Mesenteric lymph nodes may also be seen anterior to the right psoas muscle but tend to be smaller and fewer than in mesenteric lymphadenitis. Thickened bowel wall may be seen on ultrasound scan in Crohn’s disease, but this would be less likely in this age group. Symptomatic Meckel’s diverticulum usually presents in younger children with gastrointestinal bleeding. Small bowel duplication cyst usually presents under 2 years of age, and lymphadenopathy is not a feature.
Which of the following conditions is the most common underlying aetiology for intussusception in childhood? [B4 Q69]
a. viral gastroenteritis
b. Meckel’s diverticulum
c. Henoch–Scho¨nlein purpura
d. duplication cyst
e. small bowel polyp
Viral gastroenteritis
Most intussusceptions occur in childhood, usually between 6 months and 2 years of age. The vast majority are idiopathic or related to mucosal oedema and lymphoid hyperplasia following viral gastroenteritis. In the 5% of patients with a pathological lead point, causes include those listed above. Patients classically present with cramping abdominal pain, screaming episodes, red currant jelly stools and a palpable abdominal mass. Most childhood intussusceptions are ileocolic. In contrast, a specific cause is identified in 80% of adult cases, and ileo-ileal intussceptions are more common than ileocolic.
A 9-year-old boy with leukaemia and severe neutropenia presents with right lower quadrant abdominal pain and bloody diarrhoea. CT of the abdomen demonstrates circumferential thickening of the caecum with decreased bowel wall attenuation and pericolonic inflammatory changes. What is the most likely diagnosis? [B4 Q99]
a. appendicitis
b. typhlitis
c. leukaemic infiltration of the bowel
d. diverticulitis
e. Crohn’s disease
Typhlitis
Typhlitis is acute inflammation of the caecum, appendix and occasionally terminal ileum, initially described in neutropenic children with leukaemia, but also seen with lymphoma, following immunosuppressive therapy and with clinical AIDS. Patients present with abdominal pain and diarrhoea, and may have a palpable, right lower quadrant mass. Characteristic findings are of circumferential caecal wall thickening, with oedematous bowel wall and inflammatory changes. Pericolonic fluid and intramural pneumatosis may be seen. Leukaemic deposits would be expected to cause more eccentric bowel wall thickening. Appendicitis may result in apical caecal wall thickening but would be accompanied by abnormal appendix. Crohn’s disease may produce a similar picture, but, in this clinical setting, typhlitis is the most likely diagnosis. Diverticulitis would be very unlikely in this age group.
A preterm male infant develops abdominal distension and blood-stained stools 2 days after birth. Plain abdominal radiograph shows distended and thickened bowel loops with curvilinear gas collections within the bowel wall. What is the most likely diagnosis? [B4 Q100]
a. necrotizing enterocolitis
b. Hirschsprung’s disease
c. meconium ileus
d. imperforate anus
e. viral gastroenteritis
Necrotizing enterocolitis
Necrotizing enterocolitis is an acute inflammatory bowel condition seen predominantly in preterm infants. It usually presents 2–3 days after birth, with abdominal distension, vomiting and blood-stained stools. Plain film signs include distended small and large bowel, and bowel wall thickening, but the hallmark of the condition is pneumatosis intestinalis, seen in 80% of cases. This may be curvilinear (subserosal) or bubbly (submucosal) and may also be associated with portal venous gas. Hirschsprung’s disease is characterized by an aganglionic segment of distal colon, resulting in abnormal peristalsis and impaired evacuation of the colon. In this age group, it presents with failure to pass meconium, but is extremely rare in preterm infants. Meconium ileus and imperforate anus also present with failure to pass meconium. Pneumatosis intestinalis may be seen in association with mechanical obstruction resulting from these three conditions, but it is rare. It is not a feature of viral gastroenteritis.
A 1-year-old child recovering from flu symptoms presents with severe intermittent colicky pain, vomiting and bleeding per rectum. Ultrasound shows a 5 cm mass lesion in the mid abdomen with a ‘pseudokidney’ sign. The likely cause is? [B5 Q3]
a. Intussusception
b. Hypertrophic pyloric stenosis
c. Acute appendicitis
d. Chronic constipation
e. Mesenteric adenitis
Intussusception
This is a common surgical emergency in children less than 1 year of age. Ultrasound can accurately diagnose and assess bowel viability. Hypertrophic pyloric stenosis occurs at a much younger age and does not present with bleeding per rectum. Other options are also unlikely, with the given ultrasound appearances.
A young boy presents with abdominal pain and vomiting. Ultrasound of the abdomen confirms ileocolic intussusception. Which one of the following features is associated with a good chance of successful hydrostatic reduction? [B2 Q36]
a. Symptom history of greater than 48 hours
b. Small bowel obstruction
c. Presence of blood flow within the intussusceptum
d. Passage of blood per rectum
e. Age less than three months
Presence of blood flow within the intussusceptum
The following criteria are associated with a lower rate of successful enema reduction: age less than three
months or greater than five years, long duration of symptoms, passage of blood per rectum, significant dehydration, obstruction of the small intestine and visualisation of the dissection sign during enema therapy.
An 11-year-old boy presents with fever, vomiting and right lower quadrant pain. Ultrasound scan of the right lower quadrant demonstrates a blind-ending, compressible, fluid-filled, tubular structure measuring 4 mm in diameter, as well as enlarged mesenteric lymph nodes and several thickened loops of small bowel. What is the most likely diagnosis? [B4 Q95]
a. acute appendicitis
b. mesenteric lymphadenitis
c. Crohn’s disease
d. Meckel’s diverticulum
e. enteric duplication cyst
Mesenteric lymphadenitis
Mesenteric lymphadenitis is an inflammatory process affecting the mesenteric lymph nodes; it is most frequently caused by viral infection but also by Yersinia enterocolitica and other pathogens. It affects children and young adults, and clinically mimics acute appendicitis. Imaging findings are of enlarged mesenteric lymph nodes, and ileal and colonic wall thickening. The normal appendix must be visualized to differentiate it from acute appendicitis. Features of acute appendicitis on ultrasound scan are of a blind-ending, non-compressible, tubular, aperistaltic, fluid-filled structure measuring over 6 mm in diameter. Mesenteric lymph nodes may also be seen anterior to the right psoas muscle but tend to be smaller and fewer than in mesenteric lymphadenitis. Thickened bowel wall may be seen on ultrasound scan in Crohn’s disease, but this would be less likely in this age group. Symptomatic Meckel’s diverticulum usually presents in younger children with gastrointestinal bleeding. Small bowel duplication cyst usually presents under 2 years of age, and lymphadenopathy is not a feature.
Which of the following conditions is the most common underlying aetiology for intussusception in childhood? [B4 Q69]
a. viral gastroenteritis
b. Meckel’s diverticulum
c. Henoch–Scho¨nlein purpura
d. duplication cyst
e. small bowel polyp
Viral gastroenteritis
Most intussusceptions occur in childhood, usually between 6 months and 2 years of age. The vast majority are idiopathic or related to mucosal oedema and lymphoid hyperplasia following viral gastroenteritis. In the 5% of patients with a pathological lead point, causes include those listed above. Patients classically present with cramping abdominal pain, screaming episodes, red currant jelly stools and a palpable abdominal mass. Most childhood intussusceptions are ileocolic. In contrast, a specific cause is identified in 80% of adult cases, and ileo-ileal intussceptions are more common than ileocolic.
A 9-year-old boy with leukaemia and severe neutropenia presents with right lower quadrant abdominal pain and bloody diarrhoea. CT of the abdomen demonstrates circumferential thickening of the caecum with decreased bowel wall attenuation and pericolonic inflammatory changes. What is the most likely diagnosis? [B4 Q99]
a. appendicitis
b. typhlitis
c. leukaemic infiltration of the bowel
d. diverticulitis
e. Crohn’s disease
Typhlitis
Typhlitis is acute inflammation of the caecum, appendix and occasionally terminal ileum, initially described in neutropenic children with leukaemia, but also seen with lymphoma, following immunosuppressive therapy and with clinical AIDS. Patients present with abdominal pain and diarrhoea, and may have a palpable, right lower quadrant mass. Characteristic findings are of circumferential caecal wall thickening, with oedematous bowel wall and inflammatory changes. Pericolonic fluid and intramural pneumatosis may be seen. Leukaemic deposits would be expected to cause more eccentric bowel wall thickening. Appendicitis may result in apical caecal wall thickening but would be accompanied by abnormal appendix. Crohn’s disease may produce a similar picture, but, in this clinical setting, typhlitis is the most likely diagnosis. Diverticulitis would be very unlikely in this age group.
A preterm male infant develops abdominal distension and blood-stained stools 2 days after birth. Plain abdominal radiograph shows distended and thickened bowel loops with curvilinear gas collections within the bowel wall. What is the most likely diagnosis? [B4 Q100]
a. necrotizing enterocolitis
b. Hirschsprung’s disease
c. meconium ileus
d. imperforate anus
e. viral gastroenteritis
Necrotizing enterocolitis
Necrotizing enterocolitis is an acute inflammatory bowel condition seen predominantly in preterm infants. It usually presents 2–3 days after birth, with abdominal distension, vomiting and blood-stained stools. Plain film signs include distended small and large bowel, and bowel wall thickening, but the hallmark of the condition is pneumatosis intestinalis, seen in 80% of cases. This may be curvilinear (subserosal) or bubbly (submucosal) and may also be associated with portal venous gas. Hirschsprung’s disease is characterized by an aganglionic segment of distal colon, resulting in abnormal peristalsis and impaired evacuation of the colon. In this age group, it presents with failure to pass meconium, but is extremely rare in preterm infants. Meconium ileus and imperforate anus also present with failure to pass meconium. Pneumatosis intestinalis may be seen in association with mechanical obstruction resulting from these three conditions, but it is rare. It is not a feature of viral gastroenteritis.
A 1-year-old child recovering from flu symptoms presents with severe intermittent colicky pain, vomiting and bleeding per rectum. Ultrasound shows a 5 cm mass lesion in the mid abdomen with a ‘pseudokidney’ sign. The likely cause is? [B5 Q3]
(a) Intussusception
(b) Hypertrophic pyloric stenosis
(c) Acute appendicitis
(d) Chronic constipation
(e) Mesenteric adenitis
Intussusception
This is a common surgical emergency in children less than 1 year of age. Ultrasound can accurately diagnose and assess bowel viability. Hypertrophic pyloric stenosis occurs at a much younger age and does not present with bleeding per rectum. Other options are also unlikely, with the given ultrasound appearances.
In a child with acute intussusception, which is the most useful investigation? [B5 Q4]
(a) Plain abdomen radiograph
(b) Ultrasound
(c) CT
(d) Double contrast enema
(e) MRI
Ultrasound
This is the most useful investigation as it can not only accurately diagnose intussusception but also assess bowel viability and reducibility.
A 2-year-old boy presents with abdominal pain and clinical signs of GI bleeding. The clinical team wish to exclude a Meckel’s diverticulum and request a radionuclide ‘Meckel’s scan’. What ectopic tissue is required in the Meckel’s diverticulum for the scan to be successful? [B1 Q69]
A. Colonic tissue.
B. Gastric mucosa.
C. Exocrine pancreatic tissue.
D. Pancreatic islet cells.
E. Thyroid tissue.
Gastric mucosa.
The most sensitive and specific evaluation for a Meckel’s diverticulum is a 99m Tc pertechnetate scan. This is positive only if gastric mucosa is present (in approximately 20% of patients). However, ectopic gastric mucosa is present in nearly all cases of Meckel’s diverticulum that bleed, as it is the ulcerated ectopic gastric mucosa that is the source of the haemorrhage. Ectopic pancreatic and colonic mucosa can occur in a Meckel’s diverticulum but are not typically associated with haemorrhage. Ectopic thyroid tissue is not usually found in a Meckel’s diverticulum. Other complications of a Meckel’s diverticulum include obstruction (either volvulus or intussusception) and diverticulitis.
A three-year-old boy is referred for a Tc-99m pertechnetate scan following recurrent painless gastrointestinal bleeds. A Meckel’s diverticulum is suspected. Which one of the following may give a false negative result? [B2 Q46]
a. Recent barium investigation
b. Intussusception
c. Urinary tract obstruction
d. Acute appendicitis
e. Anterior myelomeningocele
Recent barium investigation
Prior to adolescence, a Tc-99m pertechnetate scan has a high pick-up rate for a Meckel’s diverticulum. This declines with increasing age as the test relies on the presence of ectopic gastric mucosa, which is less likely to be present in someone asymptomatic throughout childhood. A false negative result is most commonly due to insufficient mass of ectopic gastric mucosa within the Meckel’s diverticulum but may also be seen with barium from recent investigation attenuating the gamma radiation and dilution of intraluminal activity due to rapid bowel transit.
A 6-year-old boy presents with lower gastrointestinal bleeding. He undergoes a [99mTc]-pertechnetate study, which demonstrates a small focal area of increased activity in the right lower quadrant 5 minutes after tracer injection, which increases in intensity with time paralleling the activity of the stomach. What is the most likely diagnosis? [B4 Q57]
a. Meckel’s diverticulum
b. appendicitis
c. duodenal duplication cyst
d. intussusception
e. peptic ulcer disease
Meckel’s diverticulum
Meckel’s diverticulum is a true diverticulum arising from the small bowel, usually 80–90 cm from the ileocecal valve, representing failure of closure of the omphalomesenteric duct. Heterotopic gastric mucosa is present in 10–30% of diverticula but is seen in 98% of those that present with bleeding. A [99m Tc]-pertechnetate study demonstrates uptake in gastric mucosa within Meckel’s diverticulum, seen as a focal area of uptake, usually in the right lower quadrant with activity paralleling that of the stomach. Duodenal duplication cysts may contain heterotopic gastric mucosa, which may be a cause of a false-positive scan, but they often appear as larger areas of increased activity and would be expected to be in the upper abdomen. Tracer uptake may be seen in inflammatory, obstructive, and neoplastic conditions, including intussusception, peptic ulcer disease, and appendicitis, but activity does not parallel that of the stomach.
A 7-year-old boy is admitted with colicky abdominal pain and rectal bleeding. He is noted to have a purpuric skin rash on the extensor surfaces of his arms and legs. What are the most likely findings on CT of the abdomen? [B4 Q61]
a. multifocal bowel wall thickening
b. multiple small polyps in the colon
c. focal outpouching of the distal ileum
d. inflammatory changes at the terminal ileum
e. dilatation of the small bowel
Multifocal bowel wall thickening
Henoch–Schönlein purpura is an acute systemic vasculitis that affects the skin, gastrointestinal tract, joints, and kidneys. Children aged 3–10 years are predominantly affected and may present with a purpuric rash on the extensor surfaces of the limbs, arthralgia, and crampy abdominal pain with intestinal bleeding. Imaging demonstrates multifocal areas of bowel wall thickening due to intramural hemorrhage and edema. Gastrointestinal complications include bowel infarction and perforation, as well as intussusception.
A 12-year-old boy presents with a history of recurrent abdominal pain and several episodes of malaena. He was found to have anemia. Radionuclide imaging with 99mTc pertechnetate demonstrates focal uptake in the right lower abdomen. The most likely diagnosis is? [B5 Q1]
(a) Intussusception
(b) Appendicitis
(c) Inflammatory bowel disease
(d) Meckel’s diverticulum
(e) Haemangioma
Meckel’s diverticulum
The 99m Tc pertechnetate scan demonstrates ectopic gastric mucosa which bleeds, giving rise to symptoms.
A 7–day-old neonate presents with delayed passage of meconium and abdominal distension. There is no vomiting. An AXR shows non-specific gas-filled loops of bowel extending distally with air/fluid levels. A water-soluble contrast enema is performed, and this shows a large filling defect in the proximal descending colon. There is a calibre change at this site between a small distal colon and mildly distended proximal colon. The colon wall is otherwise smooth, with no abnormal contractions or wall irregularity. What is the most likely diagnosis? [B1 Q39]
A. Hirschsprung’s disease.
B. Meconium plug syndrome.
C. Meconium ileus syndrome.
D. Small left colon syndrome.
E. Colonic atresia.
Meconium plug syndrome.
Meconium plug syndrome is a transient disorder of the neonatal colon characterized by delayed passage of meconium and proximal dilatation of the bowel. The obstruction is due to a colonic dysmotility and associated with a large meconium plug in the left colon. The colon may appear normal or distended proximal to the plug and small caliber distally. A water-soluble contrast enema is both diagnostic and therapeutic. If there is persistence of abdominal distension and/or failure to evacuate, then rectal biopsy may be needed to exclude Hirschsprung’s disease.
Hirschsprung’s disease is a disorder of the bowel resulting from absence of normal ganglionic cells in the Auerbach’s and Meissner’s plexuses. Aganglionosis always affects the rectum and extends proximally for a variable distance. Short segment disease occurs in most cases, with the transition zone (the junction between the normal-sized distal aganglionic segment and the proximal dilated bowel) occurring in the region of the rectosigmoid. Contrast enema is used to delineate the level of the transition zone and care must be taken not to overfill the recto-sigmoid and thus mask the transition zone. Irregular, uncoordinated contractions in the aganglionic segment would more commonly be seen in the distal colon in Hirschsprung’s disease than in a meconium plug syndrome.
Meconium ileus syndrome is a distal small bowel obstruction secondary to thick inspissated meconium in the ileum, usually associated with CF. Water-soluble contrast enema may be both diagnostic and therapeutic.
A small left colon syndrome is a subtype of meconium plug syndrome. Contrast enema shows an apparent transition zone at the splenic flexure. There is a normal-sized sigmoid colon, but a small descending colon, mimicking a microcolon, which becomes normal sized again around the splenic flexure. The caliber abnormality is therefore limited to the descending colon, which was not described in this case.
Colonic atresia is secondary to a vascular insult in utero and is extremely uncommon. A microcolon exists distal to the atretic segment.
A 15-year-old boy presents with severe abdominal pain. He has a known history of a ‘polyposis’ syndrome. A plain AXR shows small bowel obstruction. A subsequent CT scan of abdomen indicates that this is due to a small bowel intussusception. Which ‘polyposis’ syndrome does he most probably have? [B1 Q74]
A. Cronkhite–Canada syndrome.
B. Familial adenomatous polyposis syndrome.
C. Cowden disease.
D. Gardner’s syndrome.
E. Peutz–Jehger’s syndrome
Peutz–Jehger’s syndrome.
Peutz-Jehger’s syndrome is an autosomal dominant disease with incomplete penetrance characterized by intestinal polyposis and mucocutaneous pigmentation. It is the most frequent of the polyposis syndromes to involve the small intestine. When symptomatic, the most common presentation is abdominal pain (due to small bowel intussusception in up to 50%). There may also be GI haemorrhage. There is an increased risk of malignancy of the GI tract, pancreas, and breast, even though the polyps are hamartomas.
Cronkhite–Canada syndrome is non-neoplastic, non-hereditary inflammatory polyposis associated with ectodermal abnormalities. It usually occurs in the middle-aged to elderly and the polyps are more common in the stomach and colon than in the small bowel. Intussusception is not a typical presentation.
Gardner syndrome is an autosomal dominant disease characterized by a triad of colonic polyposis, osteomas, and soft-tissue tumours (including desmoid tumours). Age at presentation is 15–30 years. The location of the polyps is colon (100%), duodenum (90%), stomach (5–58%), and the remainder of the small bowel (<5%). Small bowel intussusception is therefore a very rare presentation. There is a very high risk of malignant transformation of the colonic polyps if left untreated. Treatment is prophylactic total colectomy.
Familial adenomatous polyposis syndrome is an autosomal dominant disease. The polyps start to appear around puberty and have a similar distribution/location to those in Gardner syndrome. Again there is a high risk of malignant transformation of these adenomatous polyps.
Cowden disease is multiple hamartoma syndrome. It causes hamartomatous neoplasms of the skin and mucosa, GI tract, bones, CNS, eyes, and genitourinary tract. There may be associated malignant tumours of the breast and thyroid.
A neonate presents with abdominal distension, vomiting and failure to pass meconium. A water-soluble contrast enema is performed and shows a narrow rectum with a cone-shaped transition zone to a dilated, more proximal bowel. Which one of the following is the most likely diagnosis? [B2 Q48]
a. Colonic atresia
b. Hirschsprung’s disease
c. Meconium ileus
d. Cystic fibrosis
e. Functional immaturity of the colon
Hirschsprung’s disease
These features are typical of Hirschsprung’s disease. This is caused by absence of parasympathetic ganglion cells in the bowel wall. Meconium ileus typically shows an empty microcolon on water-soluble enema and colonic atresia shows a distal microcolon with obstruction at the point of atresia. Functional immaturity of the colon typically shows microcolon distal to the splenic flexure with an abrupt transition to mildly dilated proximal colon.
Currarinos triad is a rare association of anomalies including anorectal malformations, lumbosacral anomalies and which of the following? [B3 Q33]
A. Meconium ileus
B. Presacral mass
C. Ileal atresia
D. Hirshsprungs
E. Cloacal extrophy
Presacral mass
This may be teratoma, anterior meningocele or enteric cyst.
Which is the most common type of transition between affected aganglionic and normal gangionic bowel in Hirschsprung’s disease? [B3 Q36]
A. Long segment
B. Short segment
C. Ultra-short segment
D. Total intestinal aganglionosis
E. Total colonic
Short segment
Short segment accounts for 70-80%. Long segment accounts for 15-25%.
A 4-month-old infant presents with shortness of breath. A CXR is performed, and this shows evidence of cardiac failure. The liver is noted to be enlarged and slightly irregular on examination. Ultrasound demonstrates multiple mixed echogenicity masses. A subsequent dynamic contrast-enhanced CT shows multiple lesions that show progressive centripetal enhancement. What is the most likely diagnosis? [B1 Q5]
A. Hepatoblastoma.
B. Multifocal hepatoma.
C. Mesenchymal hamartoma.
D. Metastases.
E. Infantile haemangioendothelioma.
E. Infantile haemangioendothelioma.
Also known as infantile hepatic haemangioma, infantile haemangioendothelioma is a vascular neoplasm and the most common benign hepatic tumour of infancy. It may be a solitary mass or multifocal, and most are diagnosed before the age of 1 year. The lesion itself runs a benign course, but life-threatening clinical complications may occur. These include high-output cardiac failure secondary to large arterio-venous shunts and Kasabach–Merritt syndrome of coagulopathy secondary to intra-tumoral platelet sequestration. On ultrasound the lesions are well-demarcated and are generally hypoechoic or of mixed echogenicity. On CT and MRI the enhancement pattern of the lesion is similar to adult haemangioma. There is intense early peripheral nodular enhancement, with centripetal progression on the later images.
Hepatoblastoma rarely occurs in the newborn but can be seen in young infants. This tumour is distinguished by a heterogeneous rather than intense centripetal enhancement pattern and markedly elevated levels of alpha-fetoprotein (AFP) in 90% of patients. AFP level is rarely elevated in infantile haemangioendothelioma.
Mesenchymal hamartoma of the liver, like infantile haemangioendothelioma, may also be found in the perinatal period. This benign tumour differs in imaging appearance from infantile haemangioendothelioma in that it usually appears as a multicystic, multilocular mass with enhancement of only the septa and solid portions. Less commonly, mesenchymal hamartoma may be predominantly solid, but it differs from infantile haemangioendothelioma in that it is hypovascular at dynamic contrast-enhanced imaging.
Whilst metastases could occur in an infant (e.g. neuroblastoma), they would tend to be hypodense to normal liver on contrast-enhanced CT. Hepatoma is exceedingly rare in an infant and the imaging characteristics described would not be typical.
An 8-month-old child presents with gradually increasing abdominal swelling. An ultrasound scan of the abdomen is performed, and this shows a large liver mass, which is well-defined and slightly hyperechoic to surrounding hepatic parenchyma. A subsequent biphasic CT scan confirms a solitary heterogeneous, but predominantly hypodense, liver mass on both phases with some calcification. The serum alphafetoprotein is elevated. What is the most likely diagnosis? [B1 Q45]
A. Hepatic angiosarcoma.
B. Mesenchymal hamartoma.
C. Undifferentiated embryonal sarcoma.
D. Hepatoblastoma.
E. Hepatocellular carcinoma.
D. Hepatoblastoma.
Hepatoblastoma is the most common primary malignant hepatic tumour in children (approximately 80%). Most cases occur below the age of 3 years. Serum alpha-fetoprotein is elevated in 70–90%. The imaging features are as described = well-defined hyperechoic to surrounding parenchyma and hypodense in both arterial and porto-venous phases. Calcification is seen in approximately 50%.
HCC is the next most common malignant liver tumour and has two peaks in childhood, at 2–4 years and 12–14 years. Serum alpha-fetoprotein is also elevated in approximately 80%. Imaging features are similar to those seen in an adult population, i.e. larger tumours are of heterogeneous echogenicity on ultrasound and on biphasic CT they show arterial enhancement with rapid washout on the portal venous phase.
Undifferentiated embryonal sarcoma (UES) is the third most common liver malignancy and is most common between the ages of 6 and 10 years. Serum alpha-fetoprotein levels are normal. The imaging hallmark of this tumour is the discrepancy between its appearance on ultrasound and that on CT. Ultrasound is used to confirm the solid nature of this tumour, which typically is isoechoic or hyperechoic. On CT, UES is seen as a well-circumscribed, multiseptate, fluid-attenuating lesion. Enhancement of solid-appearing septa and a pseudocapsule may be seen.
Mesenchymal hamartoma is the second most common benign hepatic lesion (to haemangioendothelioma). It is usually seen under the age of 2 years. Serum alpha-fetoprotein is not elevated. The typical ultrasound appearance is a multi-septate, cystic mass. Less commonly, the solid component of the lesion can be more predominant, with multiple smaller cysts giving the lesion a Swiss-cheese appearance. The usual CT finding is of a multilocular cystic mass with enhancing septa of varying thickness.
Angiosarcoma is not usually seen in children, but is a rare, highly vascular, and highly malignant hepatic tumour of adults.
A 6-year-old girl with a large abdominal mass in the right upper quadrant and with an elevated AFP undergoes ultrasound assessment. This shows a 10cm mass in the right lobe of the liver, of heterogeneous echotexture, but predominantly solid. A spoke-wheel appearance is seen due to fibrous septa radiating from a central hub. Which is the most likely diagnosis? [B3 Q42]
A. Haemangioendothelioma
B. Hepatoblastoma
C. Mesenchymal hamartoma
D. Hepatocellular carcinoma
E. Metastasis from neuroblastoma
B. Hepatoblastoma
Haemangioendotheliomas have normal Alpha fetoprotein (AFP). Mesenchymal hamartomas are usually more cystic.
A 2-year-old boy presents with jaundice, abdominal pain and precocious puberty. Ultrasound scan of the abdomen reveals a heterogeneous, hyperechoic, 10 cm mass with areas of coarse calcification in the right lobe of the liver. What is the most likely diagnosis? [B4 Q86]
a. hepatocellular carcinoma
b. hepatoblastoma
c. haemangioma
d. pyogenic abscess
e. choledochal cyst
b. hepatoblastoma
Hepatoblastoma is the commonest malignant liver tumour of early childhood, typically presenting before 3 years with pain, palpable mass, jaundice, and weight loss, as well as precocious puberty due to hormone production. Tumours are typically large (average 10–12 cm) and appear to be heterogeneous with areas of calcification and necrosis. Metastases to the lung are common. Hepatocellular carcinoma is the second most common malignant liver tumour of children, but usually affects children over 5 years of age. Although it also commonly appears of heterogeneous echogenicity, calcifications are rare. Haemangiomas commonly appear hyperechoic on ultrasound scan and may contain calcifications, but are usually ,4 cm and are rarely seen in young children. Pyogenic abscess and choledochal cyst are typically hypoechoic lesions.
A 3-week-old girl presents with congestive cardiac failure and is found to have hepatomegaly on examination. Ultrasound scan of the abdomen shows an ill-defined, complex, heterogeneous, 5 cm mass in the right lobe of the liver containing multiple vascular channels on Doppler ultrasound scan. What is the most likely diagnosis? [B4 Q93]
a. infantile haemangioendothelioma
b. hepatoblastoma
c. cavernous haemangioma
d. mesenchymal hamartoma
e. hepatocellular carcinoma
a. infantile haemangioendothelioma
Infantile haemangioendothelioma is the commonest benign hepatic tumour occurring in the first 6 months of life, consisting of multiple sinusoidal vascular channels with surrounding connective tissue stroma. Patients typically present with an abdominal mass, or high-output cardiac failure secondary to arteriovenous shunting. Kasabach–Merritt syndrome (consumptive coagulopathy) is seen in 11% of patients. Typical CT features are of early peripheral enhancement and variable delayed central enhancement. Hepatoblastomas tend to occur in slightly older infants (peak 18–24 months) and congestive cardiac failure is not usually a feature. Mesenchymal hamartoma is a rare developmental liver tumour, which appears typically as a multiloculated cystic mass, but may appear solid and echogenic in infants due to innumerable microcysts. However, these are generally hypo-vascular at Doppler assessment.
An 8-year-old boy with no previous medical history presents with acute abdominal pain and is noted to have an abdominal mass. An ultrasound scan shows a large complex mass in the left lobe of the liver. A CT scan shows a large hypodense mass with necrotic areas. The liver has increased size, and there is ascites. What is the most likely diagnosis? [B4 Q98]
A. Hepatocellular carcinoma
B. Hepatoblastoma
C. Hemangiosarcoma
D. Metastatic neuroblastoma
E. Metastatic Wilms’ tumor
A. Hepatocellular carcinoma
Hepatocellular carcinoma is the most common primary malignant liver tumor in adolescents and adults. It is less common in children. In children, it tends to occur in children over 5 years and is often associated with underlying liver disease. The imaging appearance can vary from well-defined lesions to infiltrative masses. It typically presents with an acute abdomen, abdominal pain, and a palpable mass, and can have necrotic areas. Hepatoblastoma is the most common malignant liver tumor in children under 3 years of age. Hemangiosarcoma is rare and typically occurs in adults. Metastatic neuroblastoma or Wilms’ tumor typically appear as a solid mass with the possibility of calcifications but less common than hepatocellular carcinoma.
A 12-month-old baby presents with an abdominal mass. CT shows a large hepatic mass which displaces the retroperitoneal structures but no extrahepatic invasion is seen. There is heterogeneous enhancement of the lesion with contrast. What is the most likely diagnosis? [B5 Q40]
(a) Hepatoblastoma
(b) Hepatocellular carcinoma
(c) Hepatic adenoma
(d) Hemangioendothelioma
(e) Metastases
Hepatoblastoma
This is the most common primary malignant hepatic tumour in children occurring before 3 years of age. There is an association with Beckwith–Wiedemann syndrome. On CT there is a heterogeneous contrast enhancement whilst on MRI, the tumour is usually heterogeneously hyperintense on T2. Hepatocellular carcinoma, metastases and hemangioendothelioma are very rare in this age group.
A 4-week-old neonate presents with persistent jaundice. The hyper-bilirubinaemia is conjugated. An ultrasound scan of liver and gallbladder does not reveal a significant abnormality. A subsequent Hepatobiliary Iminodiacetic Acid (HIDA) scan shows decreased parenchymal extraction and clearance of radioisotope from the bloodstream, but tracer does eventually reach the gut. What is the jaundice is most likely to be due to? [B1 Q29]
A. Biliary atresia.
B. Caroli’s disease.
C. Neonatal hepatitis.
D. Physiological jaundice of the newborn.
E. Hypothyroidism.
Neonatal hepatitis.
Physiological jaundice of the newborn usually resolves within 2 weeks and thus is unlikely to be the cause in this case. It is also unconjugated, as is jaundice secondary to hypothyroidism. Caroli’s disease (type V of the Todani choledochal cyst classification) would typically have an abnormal ultrasound, demonstrating cystic dilatation of the intrahepatic bile ducts. The key distinction in this question is between biliary atresia and neonatal hepatitis. The question stated that the ultrasound was normal, and visualization of a normal-sized gallbladder has been said to favour neonatal hepatitis. However, 20% of patients with biliary atresia may have a normal sized gallbladder, which also empties after a feed. Despite this, in the presence of a suggestive clinical picture, an absent or small gallbladder in the fasting state, a gallbladder with irregular and echogenic walls, or a large gallbladder that does not empty post feed are highly suggestive of biliary atresia. Distinction can be clarified with a HIDA scan. In early biliary atresia prior to cirrhosis, there is rapid extraction of radionuclide from the bloodstream, which persists and accumulates in the hepatic parenchyma with failure of excretion into the gut. Thus, visualization of isotope activity within the gut excludes the diagnosis of biliary atresia. In severe or late biliary atresia, hepatocyte function eventually deteriorates, resulting in sluggish tracer uptake by the hepatocytes. Patients with neonatal hepatitis often have decreased parenchymal extraction and clearance of radioisotope from the bloodstream but tracer does reach the intestines.
A neonate presents with jaundice, pale stools and hepatomegaly. A Tc-99m DISIDA scan shows good hepatic uptake at 15 minutes, but on delayed imaging at six and 24 hours no activity can be demonstrated within the bowel. Which one of the following is most likely to represent the underlying cause? [B2 Q57]
a. Congenital biliary atresia
b. Cystic fibrosis
c. Neonatal hepatitis
d. Spontaneous perforation of the bile duct
e. Choledocoele
Congenital biliary atresia
Congenital biliary atresia is the most likely diagnosis. It has a slight female preponderance and typically presents in the neonatal period. Ultrasound features include a large coarse liver with increased periportal reflectivity. Biliary dilatation is not typical. In severe neonatal hepatitis, the features on Tc-99m DISIDA scan can appear like biliary atresia with reduced extraction and excretion. However, the more common picture is one of reduced hepatic uptake.
In biliary atresia on US: [B3 Q40]
A. The liver is almost always of abnormal echogenicity
B. GB is present in 75% of cases
C. Extrahepatic ducts are visible
D. An echogenic triangular cord sign represents a fibrotic remnant of the common duct
E. Lack of excretion of 99mT labelled studies into small bowel by 24 hours is diagnostic
An echogenic triangular cord sign represents a fibrotic remnant of the common duct
E is highly suggestive but not diagnostic. The gallbladder is present in 25% of cases. The liver may be enlarged but is usually of normal echogenicity.
A 3-week-old baby boy born at full term presents with persistent jaundice. Clinical examination demonstrates hepatomegaly, and blood tests confirm hyperbilirubinaemia. He undergoes phenobarbital-augmented 99mTc-labelled IDA (iminodiacetic acid) cholescintigraphy, which demonstrates good hepatic activity within 5 minutes but no biliary clearance into the bowel on delayed images at 24 hours. What is the most likely diagnosis? [B4 Q80]
a. biliary atresia
b. neonatal hepatitis
c. cystic fibrosis
d. choledochal cyst
e. physiological jaundice
Congenital biliary atresia
Congenital biliary atresia is a destructive inflammatory process resulting in atresia of the bile ducts, which presents in neonates with persistent jaundice. Diagnosis is usually made with a combination of liver biopsy and hepatobiliary scintigraphy with a 99m Tc-labelled iminodiacetic acid (IDA) analogue. Phenobarbital is given for 5 days prior to imaging to stimulate biliary secretion. Normal findings are of activity within the small bowel due to biliary excretion by 60 minutes, but in biliary atresia no biliary clearance is seen by 24 hours. Patients with non-obstructive causes of neonatal jaundice usually demonstrate biliary clearance into the bowel during the first 24 hours. Choledochal cyst usually presents in children, and cholescintigraphy may be used to confirm that the cystic structure is connected to the biliary system. The 99m Tc-labelled IDA analogue will fill the cyst and may show prolonged retention depending on the degree of obstruction. Cystic fibrosis may be associated with steatosis and biliary cirrhosis. Physiological jaundice resolves spontaneously within 2 weeks.
A 2-month-old baby presents with jaundice since birth and abdominal distension. Ultrasound shows normal gallbladder and common bile duct and small ascites. A subsequent HIDA scan shows normal immediate hepatic uptake of the tracer with persistent activity at 24 hours. No appreciable bowel activity is seen at 24 hours. The most likely diagnosis is? [B5 Q18]
(a) Neonatal hepatitis
(b) Biliary atresia
(c) Cholecystitis
(d) Choledochal cyst
(e) Sclerosing cholangitis
Biliary atresia
Jaundice persisting beyond 1 month is usually due to biliary atresia of neonatal hepatitis. A choledochal cyst is seen in 5% of cases. These conditions have similar clinical and biochemical presentations. Ultrasound will be normal in hepatitis and biliary atresia, but no bowel activity is seen with HIDA scan on delayed images in biliary atresia.
Which of the following occurs with Caroli’s disease to form Caroli’s syndrome? [B3 Q41]
A. Hepatosplenomegaly
B. Hepatic fibrosis
C. Portal hypertension
D. Cholangiocarcinoma
E. Renal cystic abnormalities
B. Hepatic fibrosis
Hepatosplenomegaly and portal hypertension are consequences. There is an increased risk of cholangiocarcinoma and renal cystic abnormalities.
A 6-year-old girl is investigated for abdominal pain, jaundice and a palpable right upper quadrant mass. Ultrasound scan of the abdomen demonstrates a 5 cm cystic structure at the porta hepatis, which is separate from the normal gallbladder, and communicates with normal intrahepatic ducts. What is the most likely diagnosis? [B4 Q17]
a. biliary atresia
b. choledochal cyst
c. pancreatic pseudocyst
d. duodenal duplication cyst
e. pericholecystic abscess
b. choledochal cyst
Choledochal cyst is a congenital condition characterized by aneurysmal dilatation of the common bile duct, which in most cases is associated with an anomalous junction of the common bile duct and pancreatic duct, allowing reflux of pancreatic enzymes into the common bile duct and resulting in weakening of the wall.
Pancreas
A 14-year-old girl has an episode of pancreatitis. An MRCP examination is subsequently performed to assess for any biliary disease or pancreatic duct anomaly. You notice failure of fusion of the ventral and dorsal ducts, and suspect pancreas divisum. What other appropriate finding do you notice on the scan? [B1 Q10]
A. Longer dorsal duct draining via major papilla/shorter ventral duct draining via minor papilla.
B. Longer dorsal duct draining via minor papilla/shorter ventral duct draining via major papilla.
C. Longer dorsal duct and shorter ventral duct both draining via the major papilla.
D. Shorter dorsal duct draining via major papilla/longer ventral duct draining via minor papilla.
E. Shorter dorsal duct draining via minor papilla/longer ventral duct draining via major papilla.
F. Shorter dorsal duct and longer ventral duct both draining via the minor papilla.
B. Longer dorsal duct draining via minor papilla/shorter ventral duct draining via major papilla.
Pancreas divisum is the most common congenital anomaly of the pancreatic duct and has a prevalence of 4–10% of the general population. Although it is usually asymptomatic and an incidental finding, it can lead to recurrent episodes of pancreatitis in children and adults. By definition, the dorsal and ventral ducts fail to fuse during embryological development, which results in the following features seen at MRCP: (a) a prominent dorsal pancreatic duct, which drains directly into the minor papilla, and (b) a ventral duct, which does not communicate with the dorsal duct, but joins with the distal bile duct to enter the major papilla (ampulla of Vater). Typically, the ventral duct is short and narrow, while the dorsal duct normally has a larger caliber.
Normal anatomy:
Main pancreatic duct (Dorsal duct - Wirsung) should drain into the major papilla
Minor pancreatic duct (Ventral duct- Santoriti) should drain into the minor papilla
A 15-year-old boy is homozygous for the delta F508 mutation for CF. He has poor weight gain and is diagnosed as having pancreatic insufficiency. What is the most likely imaging finding in his pancreas? [B1 Q19]
A. Diffuse pancreatic swelling.
B. Diffuse fatty infiltration and fibrosis.
C. Diffuse scattered microcysts (less than a few millimetres in size) within the pancreas.
D. Complete replacement of the pancreas with macrocysts.
E. Diffuse pancreatic calcification.
B. Diffuse fatty infiltration and fibrosis.
Pancreatic insufficiency is almost invariable in patients who have the delta F508 mutation for CF. The most described imaging abnormality in patients with CF is diffuse fatty infiltration and fibrosis. While pancreatic cysts are described, their size does not usually exceed a few millimetres. Larger pancreatic cysts have only been described in a few patients and complete replacement of the pancreas by macro-cysts is very unusual.
A 10-year-old boy presents with a 1-day history of severe epigastric pain radiating to the back. Serum amylase is elevated. The patient has an ultrasound scan of abdomen performed which does not show evidence of gallbladder or biliary disease. Pancreatitis is suspected. What is the most useful sign regarding the pancreas on ultrasound that would support this diagnosis? [B1 Q58]
A. Increased pancreatic echogenicity.
B. Decreased pancreatic echogenicity.
C. Pancreatic duct dilatation.
D. Pancreatic atrophy.
E. Pancreatic calcification.
C. Pancreatic duct dilatation.
In cases of acute pancreatitis in children, the echogenicity of the pancreas on ultrasound is not a helpful diagnostic feature and pancreatic enlargement is absent in 50% of the patients. The most useful diagnostic feature is dilatation of the pancreatic duct (>1.5 mm at 1–6 years of age, >1.9 mm at 7–12 years, and >2.2 mm at 13–18 years). Pancreatic ductal dilatation may also be seen in chronic pancreatitis. Pancreatic atrophy and parenchymal calcifications are more typically associated with chronic disease.
A 6-week-old infant presents with a history of failure to thrive. Plain abdominal radiograph demonstrates punctate calcification in the region of the adrenal glands. Which of the following findings on CT of abdomen is most specific for Wolman disease? [B1 Q28]
A. Hepatosplenomegaly.
B. Enlarged retroperitoneal lymph nodes.
C. Diffuse fatty infiltration of the liver.
D. Enlarged calcified adrenals that maintain their normal triangular configuration.
E. Thickening of small bowel
Enlarged, calcified adrenals that maintain their normal triangular configuration
Wolman disease is a rare, autosomal recessive, primary familial xanthomatosis with involvement and calcification of the adrenal glands. Deficiency of acid esterase or acid lipase results in lipid deposition in multiple organs, including the liver, spleen, lymph nodes, adrenal cortex, and small bowel. It has a poor prognosis. Most patients die within 6 months of life due to malabsorption. All the above-mentioned features are noted in Wolman disease but the most specific finding is enlarged, calcified adrenal glands that maintain their normal configuration.
A child is diagnosed with neuroblastoma. He is referred for staging and you are asked to advise on the standard radiological investigation of bony metastases. What do you advise? [B1 Q18]
A. Whole body MRI.
B. Whole body 18-FDG PET-CT.
C. 123I-metaiodobenzylguanidine (MIBG) scan.
D. 99mTc methylene-diphosphonate (MDP) isotope bone scan.
E. MIBG and isotope bone scan.
123 I-metaiodobenzylguanidine (MIBG) scan
Owing to the high specificity and sensitivity in neuroblastoma, MIBG imaging has superseded the use of 99m Tc bone scans for the detection of skeletal metastases in the majority of children with neuroblastoma, which take up the tracer in >90% of cases and has been recommended by the last international consensus conference as a standard element of staging and response evaluation. False-negative scans may be observed in approximately 10% of neuroblastomas that do not concentrate MIBG. In addition, very small amounts of bone marrow tumour will often not be detected and therefore the MIBG scan must be supplemented with bilateral bone marrow biopsy. For those patients whose tumours are negative for MIBG uptake at diagnosis, the 99m Tc MDP bone scan is the standard test recommended to evaluate skeletal metastases. However, the low specificity of this test and the difficulty in interpreting uptake in young children with actively growing bones make investigation of alternative methods preferable. Whole-body MRI is also a sensitive test for neuroblastoma tumours, including bone and bone marrow metastases, although the specificity is much lower than for MIBG. MRI and CT are appropriate in the staging of neuroblastoma, but for the assessment of local invasion rather than bony involvement in particular. There currently is no consensus about the optimal imaging modality for assessing local disease. Both MRI and CT are routinely used, depending on local availability and the radiologist’s preference. 18-FDG PET-CT imaging is not as sensitive as MIBG imaging for bony metastases, although it may be more sensitive for small soft tissue tumours and nodal metastases. The use of PET-CT is not at present well defined and delivers a high radiation dose.
An eight-month-old girl is diagnosed with neuroblastoma following the finding of an abdominal mass. At CT the tumour is found to arise from the right suprarenal region and does not cross the midline. There are liver metastases, and bone marrow aspirates are positive for tumour. However, there is no evidence of skeletal metastases on plain films. What is the correct stage of the tumour? [B2 Q18]
a. Stage I
b. Stage II
c. Stage III
d. Stage IV
e. Stage IVs
Stage IVs
The tumour should be staged as stage IVs. This stage refers specifically to patients less than one year of age with no crossing of the midline and disease confined to the liver, skin and bone marrow without radiographically evident skeletal metastases. It confers a good prognosis. Stage I is tumour confined to the organ of origin, stage II includes regional spread not crossing the midline, stage III is extension across the midline and stage IV includes metastatic disease.
Regarding neuroblastomas: [B3 Q15]
A. Produces catecholamines in all cases
B. Are most common in 5-10 years
C. Have a better prognosis in a younger child
D. The most common site following the adrenals is the neck
E. Esthesioneuroblastoma is a very malignant tumour arising from olfactory mucosa
Esthesioneuroblastoma is a very malignant tumour arising from olfactory mucosa
Neuroblastomas produce catecholamines in 95% of cases. The peak age of diagnosis is < 3 and there is a better prognosis in older children. The most common site is adrenals, followed by chest, followed by neck.
An 8-month-old has a neuroblastoma in the right adrenal with metastatic spread to the liver, bone marrow and skin. What stage of disease does he have? [B3 Q16]
A. Stage 2B
B. 3
C. 2A
D. 4
E. 4S
Stage 4S
Stage 4S applies to infants who demonstrate a tumor on one side of the body, as seen in Stages 1 and 2, but also have affected liver, skin, and/or bone marrow. Stage 4 involves distant lymph nodes and bone with or without bone marrow/ liver/other organs.
Which of the following is a feature of neuroblastoma? [B3 Q49]
A. Large hypoechoic mass arising the suprarenal region
B. Calcification in most cases on CT
C. No increased vascularity
D. Echogenic liver lesions
E. Vascular invasion
Large hypoechoic mass arising the suprarenal region
Low attenuation metastatic liver lesion are echogenic on US. May have lytic/sclerotic or mixed bone metastases, increased vascularity and vascular encasement.
Abdominal ultrasound is performed on a neonate on the high-dependency unit to investigate a palpable mass. A heterogeneous avascular suprarenal mass is identified. Cystic change and a peripheral hyperechoic rim develop over a series of scans. Which of the following is the most likely cause of the abdominal mass? [B4 Q24]
a. nephroblastoma
b. neuroblastoma
c. adrenal haematoma
d. phaeochromocytoma
e. myolipoma
Adrenal haemorrhage is not only the commonest cause of neonatal adrenal mass but is also more likely to be seen in neonates in a high-dependency unit because it is associated with perinatal stress, hypoxia, septicaemia and hypotension. It can be unilateral or bilateral, but, even when bilateral, it does not usually cause adrenal insufficiency. Initially, the haematoma appears as an avascular heterogeneous mass on ultrasound scan that becomes cystic and smaller over a period of weeks. A hyperechoic rim can form, representing peripheral calcification. Haematomas can become infected, resulting in an abscess. Neuroblastoma is the main differential diagnosis; on ultrasound scan, it appears as a hyperechoic mass that can have internal flecks of calcification. Repeat ultrasound scan at 1 week will not show the changes that haematoma undergoes.
A 4-year-old boy presents with a mixed endocrine syndrome of precocious puberty and cushingoid features. CT reveals a 10 cm mass replacing the left adrenal gland with cystic areas in keeping with haemorrhage and necrosis. The mass is continuous with the upper pole of the left kidney, which is expanded and has acquired the same CT appearance as the adrenal mass. No enlarged nodes or distant metastases are identified. Choose from the following the correct stage grouping: [B4 Q33]
a. I
b. II
c. III
d. IV
e. V
IV
The clinical and radiological findings are of adrenal cortical carcinoma, which is a disease with two age peaks, the first in early childhood (two-thirds of affected children being younger than 5 years) and the second in the fourth and fifth decades. Preliminary staging is performed with CT, though MR may be useful in evaluation of vascular or local invasion. T1 and T2 tumours are 5 cm and >5 cm, respectively, with no evidence of invasion. T3 tumours extend outside the adrenal into fat, and T4 tumours invade adjacent organs. Stage IV disease includes any ‘T’ or ‘N’ staging with metastases, T3 N1 and T4 disease. There is no stage V.
A 2-year-old child presents with abdominal swelling. CT shows a large mass pushing the right kidney and encasing the inferior vena cava and aorta. There are speckled calcifications seen in the lesion. What is the most likely diagnosis? [B5 Q31]
(a) Neuroblastoma
(b) Lymphoma
(c) Wilms’ tumour
(d) Multicystic kidney
(e) Mesoblastic nephroma
Neuroblastoma
A childhood suprarenal mass with calcification, crossing the midline to encase the inferior vena cava and aorta is almost certainly a neuroblastoma.
Which of the following features on ultrasound scan is most suggestive of a horseshoe kidney? [B4 Q75]
a. unilateral upper pole calyx dilatation
b. unilateral lower pole calyx dilatation
c. bilateral upper pole calyx dilatation
d. laterally oriented renal long axis
e. medially oriented renal long axis
Medially oriented renal long axis
Ninety per cent of horseshoe kidneys are joined at the lower poles by a parenchymal or fibrous isthmus. The isthmus lies at the L4–5 level, where renal ascent is arrested by the inferior mesenteric artery. The pelves and ureters are anterior, and pelvi-ureteric junction obstruction is more common. Incidence is 1–4/1000 births, making it the commonest renal fusion abnormality. Cardiovascular, skeletal, central nervous system, anorectal and genitourinary malformations are associated. There are associations with trisomy 18 and Turner’s syndrome. Associated genitourinary anomalies include hypospadias, undescended testes, bicornuate uterus and ureteral duplication. The incidence of infection and stones increases in a horseshoe kidney.
Which of the following would be regarded as abnormal during ultrasound scan of the kidneys in a neonate? [B4 Q87]
a. echogenicity of the renal cortex like that of liver
b. large hyperechoic medullary pyramids
c. paucity of renal sinus fat
d. lobulated renal contour
e. echogenic septum at anterosuperior margin of the kidney
Large hyperechoic medullary pyramids
The average length of the normal neonatal kidney is 4.5 cm. Ultrasound appearances of the kidney in the neonate and infant show several differences from those of the older child and adult. Cortical echogenicity is increased, as the glomeruli form 20% of the cortex in the neonate but only 9% in the adult and may be comparable to that of the liver or the spleen. The medullary pyramids are larger and more hypoechoic than in older children and adults, and there may be little or no fat in the renal sinus. Persistent fetal lobulation may give the kidneys a lobulated contour. In addition, echogenic septa may be normally seen at the anterosuperior or posteroinferior margins of the kidney, representing the sites of fusion of metanephric elements. Most kidneys attain an adult pattern by 6 months of age.
A 2-day-old term neonate with an antenatal history of enlarged kidneys undergoes ultrasound of the renal tracts, which reveals bilateral enlarged and diffusely echogenic kidneys, with loss of cortico-medullary differentiation. Further assessment with a high-resolution linear probe reveals multiple small radially oriented cysts. Which of the following statements regarding this condition is false? [B1 Q4]
A. It is associated with congenital hepatic fibrosis.
B. The severities of renal and hepatic involvement are inversely proportional to each other.
C. Severe renal compromise is the immediate cause of death in the perinatal group.
D. Potter facies may be found in severely affected neonates.
E. It is associated with clubfoot deformity.
Severe renal compromise is the immediate cause of death in the perinatal group.
The incidence of autosomal recessive polycystic kidney disease (ARPKD) is approximately 1:20,000 births. It is a disease of tubular ectasia and fibrosis that results in bilateral enlarged kidneys, with loss of cortico-medullary differentiation and multiple small radially arranged cysts. ARPKD is associated with congenital hepatic fibrosis, the severity of which is inversely proportional to the renal abnormality. Four distinct groups of ARPKD are recognized based on age at presentation: perinatal, neonatal, infantile, and juvenile. The most severe renal involvement is seen in the perinatal group. In this group, severe renal impairment results in reduced urine output, oligohydramnios, and pulmonary hypoplasia. Severe respiratory compromise is the immediate cause of death in these patients. Oligohydramnios is also associated with Potter facies (low set and flattened ears, short and snubbed nose, deep eye creases, and micrognathia) and clubfoot deformity.
An antenatal ultrasound of foetus at 20 weeks’ gestation reveals an occipital encephalocele.
Foetal MRI demonstrates bilateral enlarged kidneys with cystic dysplasia and polydactyly.
What is the diagnosis? [B1 Q38]
A. Autosomal recessive polycystic kidney disease.
B. Bardet–Biedl syndrome.
C. Meckel Gruber syndrome.
D. Tuberous sclerosis.
E. Zellweger syndrome.
C. Meckel Gruber syndrome.
All of the mentioned conditions are associated with multiple renal cysts, but the triad of bilateral enlarged cystic kidneys, occipital encephalocele, and polydactyly is diagnostic of Meckel Gruber syndrome. Bardet–Biedl syndrome is associated with enlarged cystic dysplasia of the kidneys with polydactyly.
A neonate has an abdominal ultrasound following the finding of a palpable abdominal mass.
The right kidney is normal. The left kidney is replaced by multiple cysts of varying size and shape.
There is no communication between the cysts, which are separated by septae.
Which of the following is the most likely diagnosis? [B2 Q7]
a. Multilocular cystic renal tumour
b. Autosomal recessive polycystic kidney disease
c. Autosomal dominant polycystic kidney disease
d. Multi-cystic dysplastic kidney
e. Medullary sponge kidney
d. Multi-cystic dysplastic kidney
These features are highly suggestive of multi-cystic dysplastic kidney. The condition is invariably fatal if bilateral, but often asymptomatic if unilateral. It is the second commonest cause of a palpable abdominal mass in the neonate, second only to hydronephrosis. The key features are that NO normal renal tissue is present, the cysts do not communicate with each other, and they are separated by septae.
A three-year-old boy has an ultrasound and an abdominal CT scan following the discovery of a palpable abdominal mass.
No other symptoms are present.
A large abdominal mass measuring 9cm in maximum cross-sectional dimensions is seen.
Which one of the following features would favour a diagnosis of Wilms tumour rather than neuroblastoma? [B2 Q8]
a. Calcification
b. Bone metastases
c. Lung metastases
d. Encasement of the major vessels
e. Displacement of the kidney
c. Lung metastases
Lung metastases are rare in neuroblastoma and are seen in only 10% of cases, whereas they are seen in 85% of metastatic Wilms tumours. Wilms tumours tend to displace rather than encase the vessels, and intrinsic mass effect, rather than displacement of the kidney, is seen. Calcification is seen in 90% of neuroblastomas but only 10% of Wilms tumours. Wilms tumours are the most common abdominal neoplasm in children between one and eight years of age. It typically presents with an asymptomatic abdominal mass but pain, haematuria and fever may be found.
A two-month-old boy born prematurely has a CT abdomen following macroscopic haematuria and a palpable abdominal mass.
A large intrarenal mass is seen, which replaces most of the renal parenchyma, involves the renal sinus and does not display any venous extension, collecting system involvement or calcification.
Which one of the following diagnoses is most likely? [B2 Q34]
a. Metanephric adenoma
b. Mesoblastic nephroma
c. Wilms tumour
d. Nephroblastomatosis
e. Neuroblastoma
b. Mesoblastic nephroma
Mesoblastic nephroma is the most likely diagnosis. This is the most common solid renal neoplasm in the neonate. Although definitive diagnosis with CT or ultrasound is difficult, certain features make the diagnosis more likely; it displays infiltrative growth without involvement of the vascular structures or collecting system (differentiating it from Wilms tumour) and only very rarely calcifies (differentiating it from neuroblastoma).
Neonatal ultrasound shows kidneys which are enlarged bilaterally hyperechoic with loss of normal cortico-medullary differentiation.
Cysts are noted which are less than 1cm.
There are focal rosettes of radially oriented dilated collecting tubules.
What is the diagnosis? [B3 Q45]
A. Autosomal Recessive Polycystic Kidney Disease (ARPKD)
B. Autosomal Dominant Polycystic Kidney Disease (ADPKD)
C. Asymmetrical large renal cysts
D. Tuberous sclerosis
E. Multi-cystic Dysplastic Kidney (MCDK)
A. ARPKD
ADPKD have normal renal echogenicity. Small cyst may not be immediately identified on ultrasound.
Which of the following are common features in mesoblastic nephroma? [B3 Q46]
A. Cystic areas of necrosis
B. Areas of haemorrhage
C. Calcification
D. Invasion of vessels
E. Polyhydramnios in pregnancy
E. Polyhydramnios in pregnancy
Cystic areas of necrosis, areas of haemorrhage and calcification are uncommon.
Nephroblastomatosis, Beckwith-Wiedemann syndrome, chromosome 11 abnormalities and trisomy 18 are all associations of which of the following? [B3 Q47]
A. Autosomal recessive polycystic kidney disease
B. Neuroblastoma
C. Nephroblastomatosis
D. Wilms’ tumour
E. Multilocular cystic nephroma
D. Wilms’ tumour
These are all known associations of Wilm’s tumor.
A child with Wilms’ tumour has exomphalos, macroglossia, gigantism and hepatomegaly.
Which is the diagnosis? [B3 Q50]
A. Hemihypertrophy
B. Drash syndrome
C. Beckwith-Wiedemann
D. Trisomy 18
E. Trisomy 21
C. Beckwith-Wiedemann
A, B and C are all associations of Wilm’s tumour. 10-20% of patients with Beckwith-Wiedemann develop Wilm’s tumour.
A 3-year-old child with aniridia is found to have a palpable abdominal mass.
The mass is shown to arise from a kidney and to contain cystic elements on ultrasound scan.
No calcification is seen in the tumour on CT.
Which of the following diagnoses is the most likely? [B4 Q4]
a. renal cell carcinoma
b. neuroblastoma
c. angiomyolipoma
d. Wilms’ tumour
e. ossifying renal tumour of infancy
d. Wilms’ tumour
Wilms’ tumour is the commonest renal tumour of childhood. Seventy five per cent occur in children under 5 years, 5–10% are bilateral and 10% are multifocal. Calcification is seen in less than 15%. Nephroblastomatosis is a precursor, and the disease is associated with the WT1 and WT2 genes of chromosome 11. The WT1 abnormal gene is found in the WAGR syndrome of Wilms’ tumour, aniridia, genitourinary abnormalities and learning disability. It is also found in the DRASH syndrome of male pseudohermaphroditism and progressive glomerulonephritis. The abnormal WT2 gene is found with the Beckwith–Wiedemann syndrome and hemihypertrophy.
An 18-month-old girl presents with increasing incoordination and developmental regression. T2WI demonstrates confluent high signal within the periventricular white matter and centrum semiovale, with radiating linear low signal intensity, giving a ‘tigroid’ pattern. Sparing of subcortical U fibres is also noted. What is the most likely diagnosis? [B1 Q41]
A. Krabbe disease.
B. Metachromatic leucodystrophy.
C. X-linked adrenoleucodystrophy.
D. Alexander disease.
E. Canavan disease.
Metachromatic leucodystrophy.
Leucodystrophies are dysmyelinating inherited white matter diseases, which are secondary to lysosomal, peroxisomal, or mitochondrial dysfunction. Metachromatic leucodystrophy is caused by deficiency of the lysosomal enzyme ayrlsulfatase A. The ‘tigroid’ pattern relates to sparing of perivascular white matter.
