Congenital Abnormalities

Question 1

What are congenital anomalies?

Answer 1

Abnormalities presenting at birth due to genetic factors or interference with fetal development.

Question 2

What types of congenital anomalies are covered in previous modules?

Answer 2

Polycystic kidney disease, Choledochal cyst, Caroli’s disease, Cystic Fibrosis, Medullary cystic disease, IVC duplication and transposition.

Question 3

What is the difference between variants and anomalies?

Answer 3

Variants are variations of anatomy that are not pathological, while anomalies can be major or minor abnormalities in number, size, position, or structure.

Question 4

What is Hypertrophied Column of Bertin (HCB)?

Answer 4

A double layer of cortex between medullary pyramids, generally located in the upper or middle portion of the kidney.

Question 5

What is a Junctional Parenchymal Defect?

Answer 5

An incomplete embryological fusion identified more often on the right kidney, appearing as a hyperechoic wedge-shaped area.

Question 6

What is an Extra Renal Pelvis?

Answer 6

A renal pelvis located medial to the renal sinus, considered a variant of normal that may mimic hydronephrosis.

Question 7

What is a Dromedary Hump?

Answer 7

A thickening or bulging of the cortex on the lateral aspect of the left kidney.

Question 8

What is Fetal Lobulation?

Answer 8

An infolding of the cortex with no thinning, resulting in a scalloped contour.

Question 9

What is Renal Sinus Lipomatosis?

Answer 9

Excessive fatty infiltration of the renal sinus, typically related to aging and may appear as an enlarged echogenic sinus.

Question 10

What is the most common congenital anomaly of the urinary tract?

Answer 10

Duplicated Collecting System.

Question 11

What are Ureteroceles?

Answer 11

Cystic dilatation of the terminal ureter which protrudes into the urinary bladder, may be congenital or acquired.

Question 12

What is Horseshoe Kidney?

Answer 12

Fusion of the kidneys at the lower poles, associated with increased risk for infection and stone formation.

Question 13

What is Ectopic Kidney?

Answer 13

Failure of the kidney to ascend in utero, typically located in the pelvis and unilateral.

Question 14

What is Compensatory Hypertrophy?

Answer 14

Expansion in volume of tissue or organ, may be diffuse or focal.

Question 15

What is Congenital Megacalices?

Answer 15

Non-obstructive condition typically unilateral with normal function, appearing as enlarged clubbed calyces.

Question 16

What is Congenital Megaureter?

Answer 16

Functional obstruction of the ureter due to distal aperistalsis, may lead to hydronephrosis.

Question 17

What is Ureteropelvic (UPJ) Obstruction?

Answer 17

Results in hydronephrosis and is the most common palpable mass of the neonatal abdomen.

Question 18

What are common bladder anomalies? 4

Answer 18

1. Exstrophy
2. Hypospadia
3. Bladder Outlet Obstruction
4. Urachal Anomalies.

Question 19

What is Situs Inversus?

Answer 19

A condition where organs of the abdominal cavity are reversed.

Question 20

What is Organ Agenesis?

Answer 20

Complete absence of an organ, which can be incompatible with life for certain organs.

Question 21

What is Biliary Atresia?

Answer 21

A condition where bile ducts from the hilum of the liver to the duodenum are obliterated, treated surgically.

Question 22

What are pancreatic anomalies?

Answer 22

Annular pancreas, a rare condition where the pancreatic head surrounds the second part of the duodenum.

Question 23

What is an annular pancreatic anomaly?

Answer 23

A rare condition where the pancreatic head surrounds the second part of the duodenum. Males are more commonly affected.

Question 24

What is pancreatic divisum?

Answer 24

The most common pancreatic variant where the dorsal and ventral buds do not fuse, resulting in two separate ducts. It is prone to pancreatitis.

Question 25

What is congenital hypoplasia of the adrenal gland?

Answer 25

A condition where hormone production is altered, more commonly affecting males, leading to hypogonadism.

Question 26

What is congenital hyperplasia (Adrenogenital Syndrome)?

Answer 26

An autosomal recessive disorder that interferes with cortisol and aldosterone production, resulting in virilization of the genitalia in females and precocious puberty.

Question 27

What is an accessory spleen?

Answer 27

Also known as splenunculi, it is located at the splenic hilum and has the same texture and echogenicity as the spleen.

Question 28

What is a born again spleen?

Answer 28

Hypertrophy of an accessory spleen or other splenic tissue post-splenectomy.

Question 29

What is a wandering spleen?

Answer 29

A spleen with a long mesentery that is prone to torsion.

Question 30

What are congenital splenic abnormalities?

Answer 30

Part of a spectrum of anomalies known as visceral heterotaxy, including asplenia and polysplenia.

Question 31

What is asplenia?

Answer 31

A condition characterized by dominant right-side organs, midline liver, GU/GI tract anomalies, and complex cardiac malformations.

Question 32

What is polysplenia?

Answer 32

A condition characterized by dominant left-side organs, biliary atresia, absence of the gallbladder, and GI abnormalities.

Question 33

What is hypertrophic pyloric stenosis (HPS)?

Answer 33

A congenital narrowing of the pylorus due to hypertrophy of the pyloric muscle, more common in males and presents in the first 2 months of life.

Question 34

What are the clinical presentations of HPS? 5

Answer 34

1. Projectile vomiting
2. Palpable abdominal mass (‘olive’ sign)
3. Dehydration
4. Weight loss
5. Failure to thrive.

Question 35

What is the sonographic technique for evaluating HPS? 3

Answer 35

1. Patient placed in supine and RLD position
2. Obtaining long and short axis of pylorus
3. Evaluating real-time motion.

Question 36

What is the sonographic appearance of HPS?

Answer 36

1. Doughnut sign: hypoechoic muscle mass with a central hyperechoic lumen.
2. Muscle thickness of 4 mm or greater
3. Pyloric canal length greater than 16 mm are consistent with HPS.

Question 37

What is a bezoar?

Answer 37

A mass of foreign material in the stomach, which may be made of hair. In infants, a lactobezoar is most common, consisting of inspissated milk or infant formula.