Biliary Atresia passmed questions Flashcards
A concerned mother attends the emergency department with her 15-day baby. She has been generally unwell and not feeding well for the past two days. Her stools have been paler than usual. On examination, she appears distressed, she is apyrexial, visibly jaundiced and has hepatomegaly. The mother contracted a CMV (cytomegalovirus) infection during her pregnancy.
A newborn jaundice screen includes the following results:
Bilirubin 22µmol/L (<21)
Conjugated bilirubin 7µmol/L (<2)
ALP 117IU/L (30-100)
ALT 78IU/L (0-41)
Bile acids 69g/L (35-50)
What is the most likely diagnosis?
Hypothyroidism
Bile duct stenosis
Biliary atresia
Alagille syndrome
CMV infection
Biliary atresia
Biliary atresia typically presents in the first few weeks of life with jaundice, appetite and growth disturbance
Important for meLess important
Biliary atresia is correct. This is a cause of prolonged neonatal jaundice, presenting after 14 days. Other symptoms include hepatomegaly, splenomegaly, abnormal growth and cardiac murmurs if associated cardiac abnormalities are present. Conjugated bilirubin is abnormally high. Bile acids and aminotransferases are also typically raised, but cannot be used to differentiate between other causes of neonatal cholestasis and biliary atresia.
Bile duct stenosis would present in a similar way but is less common.
CMV infection can cause neonatal jaundice and the mother having a CMV infection during pregnancy does increase the risk. However, in the case the neonate is apyrexial. This may also present with other features such as microcephaly, sensorineural deafness, pinpoint petechial €˜blueberry muffin’ skin lesions and hepatosplenomegaly.
Hypothyroidism can cause neonatal jaundice but may have other features such as poor feeding, constipation and hypothermia. Further, it is unconjugated rather than conjugated bilirubin that is predominately raised here.
Alagille syndrome is a rare genetic disorder that has multi-organ involvement. Symptoms usually develop during the first three months of life and can include jaundice, poor weight gain, purities, congenital heart defects. This is less common than biliary atresia.
A 6-month-old baby is brought to the emergency department by his parents. He has been vomiting profusely for several hours. The vomit is thick and green in colour. He has not had any wet nappies over the last 24 hours. On examination, the baby is crying and seems distressed. An abdominal examination reveals a distended abdomen and absent bowel sounds.
He has an unremarkable past medical history and the pregnancy and delivery were uneventful.
What is the most likely diagnosis?
Biliary atresia
Intestinal malrotation
Intussusception
Oesophageal atresia
Pyloric stenosis
Intestinal malrotation
Infant with bilious vomiting & obstruction → ?intestinal malrotation
The correct answer is intestinal malrotation. This baby is presenting with bilious vomiting associated with signs of obstruction (distended abdomen and absent bowel sounds). The differential diagnoses for bilious vomiting are limited, as the green colour of the vomit is caused by conditions that cause intestinal obstruction distal to the ampulla of Vater. After this point, the bile is mixed with the intestinal contents, giving the vomit the classical green colour.
Intestinal malrotation is caused by a failure of the bowel to loop efficiently during development, most classically leading to the caecum being confined to the right upper quadrant rather than to the lower. This leads to an increased risk of volvulus and obstruction, as happened in this case.
Biliary atresia is a paediatric condition where the extrahepatic biliary system does not develop normally, resulting in an obstruction in the flow of bile. It would cause jaundice and dark urine with pale stools, rather than bilious vomiting and obstruction.
Intussusception is a condition commonly defined as telescoping bowel. This condition causes ischaemia of the affected bowel segment, leading to acute cyclical colicky abdominal pain and ‘currant jelly’ stools. It may also present with vomiting, which in later stages may become bilious, but this is a rare and late feature, rather than being the presenting feature as in this case.
Oesophageal atresia is a developmental disorder in babies which causes the upper oesophagus to not be continuous with the lower oesophagus but ends blindly instead. It is associated with pooling of secretions, choking, drooling and inability to feed accompanied by vomiting, but the vomit will not be bilious.
Pyloric stenosis is a condition caused by the idiopathic thickening of the pyloric sphincter muscles, making it difficult for the food to pass through, leading to projectile vomiting after feeding. As this defect occurs proximal to the ampulla of Vater, the vomit will be non-bilious.
A worried mother attends the paediatric emergency department with her 10-year-old son. He has had a productive cough and runny nose for a few days but she has become worried as he has become pale and the whites of his eyes are starting to become yellow. She mentions he has a history of neonatal jaundice. You request a blood film which shows Heinz bodies.
What is the most likely diagnosis?
Biliary atresia
Hereditary elliptocytosis
Hereditary spherocytosis
Sickle cell disease
G6PD deficiency
G6PD deficiency
Stereotypical history of G6PD deficiency: Greek boy develops pallor and jaundice after having a lower respiratory tract infection. He has a history of neonatal jaundice. The blood film shows Heinz bodies
This boy has G6PD deficiency which has decompensated secondary to a recent infection. Remember that certain drugs and broad (fava) beans can also precipitate a crisis. Heinz bodies are seen on blood film.
Biliary atresia presents in infants with failure to thrive and jaundice. This boy is too old to be suffering from this.
Hereditary elliptocytosis is an inherited condition where red blood cells are abnormally shaped. Symptoms include fatigue, shortness of breath, abdominal pain, gallstones, and jaundice. Elliptocytes would be seen on blood film.
Hereditary spherocytosis is another inherited red cell disorder that typically presents with fatigue, abdominal pain, splenomegaly, anaemia and jaundice. Abnormally shaped spherocytes are seen on blood film.
Sickle cell disease would primarily present with anaemia accompanied by painful crises. It would be unusual for a first presentation to occur at age 10.
A 34-year-old woman delivers a baby girl at 39 weeks gestation. This is her second baby; both pregnancies have been uncomplicated. A few hours after delivery, she notices her baby’s skin has a slight yellow tinge.
What is the most likely cause of this change in skin colour?
Biliary atresia
Breast milk jaundice
Hypothyroidism
Prematurity
Rhesus haemolytic disease
Rhesus haemolytic disease
Pathological jaundice is due to physiological problems in the red blood cells or a cross-reaction with the maternal blood
Rhesus haemolytic disease is the correct answer. Jaundice in the first 24 hours after birth is always pathological. Pathological jaundice is due to physiological problems in the red blood cells or a cross-reaction with the maternal blood. Since this is the woman’s second pregnancy, she probably has anti-D IgG antibodies that have crossed the placenta and caused fetal haemolysis.
Biliary atresia is not the correct answer as it is a condition which normally presents after a longer period of time, not within the first few hours after birth. The baby would also be irritable, failing to thrive and producing dark-coloured urine and pale stool.
Breast milk jaundice is not the correct answer as it is a cause of physiological jaundice that usually presents between 48 hours and 14 days. Furthermore, there is no mention of the baby receiving any breast milk.
Hypothyroidism is not the correct answer as it is a cause of physiological jaundice that usually presents between 48 hours and 14 days.
Prematurity is not the correct answer as it is a cause of physiological jaundice that usually presents between 48 hours and 14 days. Furthermore, this baby was not born prematurely.
A 3-week-old neonate develops jaundice and feeding difficulties. His vital signs are normal, and an ECG shows no abnormality. On examination, there are no dysmorphic features or rashes.
He was delivered at 39 weeks by caesarean section following an uncomplicated pregnancy. His APGAR score was 7 and 8 at 1 and 5 minutes after delivery. His family history is significant for his father and older brother who both suffer from a condition causing transient, asymptomatic episodes of jaundice.
Blood tests reveal the following:
Conjugated bilirubin 72 µmol/L (3 - 17)
Unconjugated bilirubin 10 µmol/L (3 - 17)
ALP 134 u/L (30 - 100)
ALT 58 u/L (3 - 40)
γGT 197 u/L (8 - 60)
What is the most likely diagnosis?
Alagille syndrome
Biliary atresia
Dubin-Johnson syndrome
Gilbert’s syndrome
Rotor syndrome
Biliary atresia
Biliary atresia typically presents in the first few weeks of life with jaundice, appetite and growth disturbance
Biliary atresia causes fibrous obstruction of the extra-hepatic biliary ducts that can progress to liver failure. The presentation typically includes jaundice with high conjugated bilirubin, growth and feeding disturbance, and hepatomegaly with raised liver transaminases (GGT most raised).
Alagille syndrome is a genetic condition primarily affecting the liver and the heart. Typical facial features include a broad forehead and pointed chin, and ECG demonstrates cardiac abnormalities. Diagnosis with genetic testing for mutations in JAG1 gene.
Dubin-Johnson and Rotor syndromes both case jaundice and elevated conjugated bilirubin. However, liver function derangement is not present. Both of these conditions are autosomal recessive.
Gilbert’s syndrome causes jaundice and elevated unconjugated bilirubin. Furthermore, liver function derangement is not found.
A mother on the postnatal ward informs the doctor that her baby has not been tolerating feeds, and has been vomiting a ‘green-coloured’ substance.
The baby was born via caesarean section at term 6 hours ago. He was diagnosed with Down’s syndrome antenatally.
On examination, the abdomen is soft but appears to be distended. An abdominal x-ray is ordered, which shows a ‘double bubble’ sign.
What is the most likely diagnosis?
Biliary atresia
Intestinal atresia
Malrotation with volvulus
Necrotising enterocolitis
Oesophageal atresia
Bilious vomiting on the first day is likely due to intestinal atresia
The correct answer is intestinal atresia. The presence of bilious vomiting in early life typically suggests a bowel obstruction. The fact that this has occurred on the first day of life indicates there is most likely an underlying structural issue, such as intestinal atresia. Additionally, children with Down’s syndrome are at a higher risk of developing this condition, especially at the duodenum. The diagnosis of intestinal/duodenal atresia is further supported by the presence of the ‘double bubble’ on the x-ray.
Biliary atresia is incorrect as this would not cause the clinical picture outlined above. This is a condition in which there is blockage of the biliary system, resulting in neonatal jaundice beyond 14 days, of life, with dark urine and pale stools.
Malrotation with volvulus is incorrect. While this can cause bilious vomiting, it tends to present around 3 days to 7 days following birth.
Necrotising enterocolitis is incorrect. Again, this can cause bilious vomiting but typically does not occur so early following birth. Additionally, it is typically a condition of prematurity and is rarely seen in infants born at term.
Oesophageal atresia is incorrect. Blockage at the level of the oesophagus would not result in bilious vomiting, as this is proximal to the point at which bile enters the gastrointestinal tract. This condition typically presents coughing/choking during feeding, and tends to be associated with a series of other birth defects, which is often summarised as VACTERL:
Vertebral anomalies
Anorectal malformations
Cardiovascular anomalies
Tracheoesophageal fistula
Esophageal atresia
Renal anomalies
Limb defects
A 3-day-old male is admitted to the neonatal unit with bilious vomiting and reduced feeding. He was born at 30 weeks gestation via an uncomplicated delivery. An abdominal X-ray is requested that shows intramural gas. Oral feeding is stopped and he is started on broad-spectrum antibiotics.
Which of the following is the most likely diagnosis?
Biliary atresia
Duodenal atresia
Hirschsprung’s disease
Intussusception
Necrotising enterocolitis
Necrotising enterocolitis
Pneumatosis intestinalis is a hallmark feature of necrotising enterocolitis on AXR
Necrotising enterocolitis (NEC) is a common gastrointestinal problem in premature neonates that is characterised by inflammation and necrosis of the bowel wall. Abdominal X-rays can show dilated bowel loops, portal venous gas, as well as the pathognomonic sign of intramural gas (pneumatosis intestinalis).
Biliary atresia is a congenital disease where there is an absence of the biliary tree, causing in cirrhosis. This typically presents with persistent jaundice and hepatomegaly within the first few weeks of life.
Duodenal atresia is a congenital malformation that presents with signs of bowel obstruction such as a distended abdomen, bilious vomiting and absence of bowel movements. This is strongly associated with Down’s syndrome and can sometimes be detected during antenatal ultrasound screening.
Hirschsprung’s disease results from aganglionosis in the distal colon and rectum. This typically presents in one of two ways. The first is delayed or failure to pass meconium in the neonatal period. The second is constipation and abdominal distension in older children.
Intussusception occurs when a segment of bowel is pulled into itself. It presents, usually after the first three months of life, with a classic triad of intermittent abdominal pain, vomiting and a right upper quadrant mass. Children will often pull their legs up to their tummy in pain and there may be ‘red currant jelly’ stool. On ultrasound you may see the ‘target sign’.
A father brings his 16-day old baby presents to the emergency department. The baby is visibly jaundiced and distressed, and the father explains the baby has not been feeding well since yesterday. Examination reveals hepatomegaly and splenomegaly. A newborn jaundice screen indicates no infection, normal thyroid function tests, raised conjugated bilirubin, liver transaminases and bile acids. The urine is negative for reducing substances.
Given the most likely diagnosis, what is the first-line management option?
Ursodeoxycholic acid only
Frequent monitoring
Surgical intervention
Liver transplant
Antibiotic prophylaxis only
Surgical intervention
Surgery is the treatment of choice for biliary atresia
The question points to the diagnosis of biliary atresia, as it points away from other causes of prolonged jaundice such as infection and hypothyroidism.
Biliary atresia can present with prolonged jaundice (present > 14 days of age), hepatomegaly, splenomegaly, abnormal growth, cardiac murmurs if associated cardiac abnormalities are present.
Given this diagnosis, surgical intervention is correct. A hepatoportoenterostomy (HPE) can be performed. This is also known as Kasai portoenterostomy and it allows bile drainage. In this procedure, the blocked bile ducts are removed and replaced with a segment of the small intestine. This restores bile flow from the liver to the proximal small bowel.
Ursodeoxycholic acid may be given as an adjuvant following surgical intervention. This would not be done as the first line management, nor be the only intervention provided as surgical intervention is required first to relieve the obstruction. It is believed to be hepatoprotective and facilitates bile flow and it can be initiated following urinary bile acids being sent for analysis and continued until the resolution of jaundice. However, if the total bilirubin is >256.6 micromol/L (>15 mg/dL) then it should not be given. This is as the bile acid load is too high and it is therefore unlikely to be of benefit.
Frequent monitoring is incorrect. This is a serious condition and urgent action needs to be taken.
Liver transplant is not the first-line treatment. If hepatoportoenterostomy is unsuccessful, liver transplantation would be the next step. It would also be considered if there were signs of end-stage liver disease, progressive cholestasis, hepatocellular decompensation, or the development of severe portal hypertension.
Antibiotic prophylaxis only is incorrect. Patients may receive antibiotic prophylaxis for the first year of life but this is not the first-line management.
A baby girl born 4 weeks ago has had persistent jaundice since 48 hours after birth. Her parents also noticed she is reluctant to take on breastfeeding and her urine appears quite dark.
Upon your examination, you confirm the infant is jaundiced and notice a firm, enlarged liver.
You review her bloods which show a conjugated hyperbilirubinaemia. Her serum alpha-1 antitrypsin levels and electrophoresis are normal and the neonatal heel prick test performed at birth was negative.
What is the treatment of choice for this condition?
Early surgical treatment
IV antibiotics
Optimise feeds
Oral ursodeoxycholic acid
Infusion of alpha-1 antitrypsin
Early surgical treatment
Surgery is the treatment of choice for biliary atresia
The cause of prolonged jaundice in this infant is biliary atresia, a condition involving either obliteration or discontinuity within the extrahepatic biliary system. Biliary atresia results in an obstruction in the flow of bile and the presentation of a cholestatic picture, including pale stools and dark urine.
Relevant investigations include bilirubin levels, liver function tests and tests to exclude differential diagnoses such as alpha-1 antitrypsin deficiency and cystic fibrosis. Abdominal ultrasound provides an initial indication of biliary anatomy, and liver biopsy and intraoperative cholangiogram confirm the diagnosis.
Early surgical intervention (a Kasai procedure- hepatoportoenterostomy) attempts to restore bile flow from the liver to the proximal small bowel. This decreases hepatic damage, and avoids or delays the need for subsequent liver transplantation.
IV antibiotics have a role in the postoperative treatment of biliary atresia, chiefly to manage complications such as ascending cholangitis, however they are insufficient to manage the anatomical abnormality of the biliary tract.
Optimising feeds is important to sustain the infant, and also constitutes part of treatment regimens for cystic fibrosis (CF), an important differential of neonatal jaundice. In this scenario, however, this would not be the management of choice, given the normal heel prick test excluding CF.
Ursodeoxycholic acid is routinely used in infants with biliary atresia after surgery. Studies showed this augments weight gain and decreases episodes of cholangitis. This, however, only constitutes an adjunct to the Kasai procedure.
This infant’s serum alpha-1 antitrypsin levels and protein electrophoresis are normal, excluding alpha-1 antitrypsin deficiency, an important differential of biliary atresia. Hence, there is no role for infusion of alpha-1 antitrypsin.
An 15-day old baby presents to the emergency department with his mother. His mother states he has not been feeding or drinking well for the last two days. She believes he is not gaining much weight and his stools have been more pale than usual. On examination, you note the baby is visibly jaundiced and has hepatomegaly. Your team conducts a newborn jaundice screen, with one of the differentials being biliary atresia.
What finding would support this diagnosis most?
Age of presentation
Raised bile acids and liver transaminases
Raised level of unconjugated bilirubin
Poor feeding and drinking
Raised level of conjugated bilirubin
Raised level of conjugated bilirubin
Conjugated bilirubin is elevated in biliary atresia
Conjugated bilirubin is elevated in biliary atresia and therefore this is the correct answer. Biliary atresia can present with prolonged jaundice (present > 14 days of age), hepatomegaly, splenomegaly, abnormal growth, cardiac murmurs if associated cardiac abnormalities are present.
Liver transaminases and bile acids are both raised in biliary atresia, but this cannot distinguish biliary atresia from other causes of neonatal cholestasis.
Poor feeding and drinking is not a differentiating factor, as there are many causes for this.
The age of presentation may support a diagnosis of biliary atresia but there are several other causes of neonatal jaundice in a 15-day old baby such as congenital infections including cytomegalovirus, urinary tract infections, breast milk jaundice and hypothyroidism.
Raised level of unconjugated bilirubin is incorrect, this may be seen if the cause was hypothyroidism.
Buzzwords
Persistent Jaundice: Jaundice lasting more than two weeks, especially if conjugated bilirubin is elevated, is a red flag for biliary atresia.
Pale Stools: A significant indicator of biliary obstruction, as bile cannot reach the intestine to give stools their normal color.
Dark Urine: Indicates the presence of conjugated bilirubin in the urine, a sign of liver dysfunction.
Hepatomegaly: An enlarged liver is a common finding in infants with biliary atresia due to inflammation and fibrosis.
Feeding Difficulties: Poor feeding or failure to thrive can be associated with liver dysfunction.
Conjugated Hyperbilirubinemia: Elevated conjugated (direct) bilirubin levels are indicative of cholestasis, which is a hallmark of biliary atresia.
Elevated Liver Enzymes (ALT, AST): Indicate liver injury or inflammation.
Elevated Gamma-Glutamyltransferase (GGT): This enzyme is particularly elevated in biliary atresia and helps differentiate it from other causes of neonatal jaundice.
Maternal History of CMV Infection: Congenital infections like cytomegalovirus (CMV) can be associated with neonatal liver disease and biliary atresia.
Splenomegaly: Although not specific, an enlarged spleen can be present due to portal hypertension, a possible complication of advanced liver disease.
Family History of Liver Disease: While not directly related to biliary atresia, a family history of liver disease or jaundice might be relevant for diagnosing hereditary forms of liver disease.
