Congenital Abnormalities Flashcards
What are congenital anomalies?
Abnormalities presenting at birth due to genetic factors or interference with fetal development.
What types of congenital anomalies are covered in previous modules?
Polycystic kidney disease, Choledochal cyst, Caroli’s disease, Cystic Fibrosis, Medullary cystic disease, IVC duplication and transposition.
What is the difference between variants and anomalies?
Variants are variations of anatomy that are not pathological, while anomalies can be major or minor abnormalities in number, size, position, or structure.
What is Hypertrophied Column of Bertin (HCB)?
A double layer of cortex between medullary pyramids, generally located in the upper or middle portion of the kidney.
What is a Junctional Parenchymal Defect?
An incomplete embryological fusion identified more often on the right kidney, appearing as a hyperechoic wedge-shaped area.
What is an Extra Renal Pelvis?
A renal pelvis located medial to the renal sinus, considered a variant of normal that may mimic hydronephrosis.
What is a Dromedary Hump?
A thickening or bulging of the cortex on the lateral aspect of the left kidney.
What is Fetal Lobulation?
An infolding of the cortex with no thinning, resulting in a scalloped contour.
What is Renal Sinus Lipomatosis?
Excessive fatty infiltration of the renal sinus, typically related to aging and may appear as an enlarged echogenic sinus.
What is the most common congenital anomaly of the urinary tract?
Duplicated Collecting System.
What are Ureteroceles?
Cystic dilatation of the terminal ureter which protrudes into the urinary bladder, may be congenital or acquired.
What is Horseshoe Kidney?
Fusion of the kidneys at the lower poles, associated with increased risk for infection and stone formation.
What is Ectopic Kidney?
Failure of the kidney to ascend in utero, typically located in the pelvis and unilateral.
What is Compensatory Hypertrophy?
Expansion in volume of tissue or organ, may be diffuse or focal.
What is Congenital Megacalices?
Non-obstructive condition typically unilateral with normal function, appearing as enlarged clubbed calyces.
What is Congenital Megaureter?
Functional obstruction of the ureter due to distal aperistalsis, may lead to hydronephrosis.
What is Ureteropelvic (UPJ) Obstruction?
Results in hydronephrosis and is the most common palpable mass of the neonatal abdomen.
What are common bladder anomalies? 4
- Exstrophy
- Hypospadia
- Bladder Outlet Obstruction
- Urachal Anomalies.
What is Situs Inversus?
A condition where organs of the abdominal cavity are reversed.
What is Organ Agenesis?
Complete absence of an organ, which can be incompatible with life for certain organs.
What is Biliary Atresia?
A condition where bile ducts from the hilum of the liver to the duodenum are obliterated, treated surgically.
What are pancreatic anomalies?
Annular pancreas, a rare condition where the pancreatic head surrounds the second part of the duodenum.
What is an annular pancreatic anomaly?
A rare condition where the pancreatic head surrounds the second part of the duodenum. Males are more commonly affected.
What is pancreatic divisum?
The most common pancreatic variant where the dorsal and ventral buds do not fuse, resulting in two separate ducts. It is prone to pancreatitis.
What is congenital hypoplasia of the adrenal gland?
A condition where hormone production is altered, more commonly affecting males, leading to hypogonadism.
What is congenital hyperplasia (Adrenogenital Syndrome)?
An autosomal recessive disorder that interferes with cortisol and aldosterone production, resulting in virilization of the genitalia in females and precocious puberty.
What is an accessory spleen?
Also known as splenunculi, it is located at the splenic hilum and has the same texture and echogenicity as the spleen.
What is a born again spleen?
Hypertrophy of an accessory spleen or other splenic tissue post-splenectomy.
What is a wandering spleen?
A spleen with a long mesentery that is prone to torsion.
What are congenital splenic abnormalities?
Part of a spectrum of anomalies known as visceral heterotaxy, including asplenia and polysplenia.
What is asplenia?
A condition characterized by dominant right-side organs, midline liver, GU/GI tract anomalies, and complex cardiac malformations.
What is polysplenia?
A condition characterized by dominant left-side organs, biliary atresia, absence of the gallbladder, and GI abnormalities.
What is hypertrophic pyloric stenosis (HPS)?
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.
What are the clinical presentations of HPS? 5
- Projectile vomiting
- Palpable abdominal mass (‘olive’ sign)
- Dehydration
- Weight loss
- Failure to thrive.
What is the sonographic technique for evaluating HPS? 3
- Patient placed in supine and RLD position
- Obtaining long and short axis of pylorus
- Evaluating real-time motion.
What is the sonographic appearance of HPS?
- Doughnut sign: hypoechoic muscle mass with a central hyperechoic lumen.
- Muscle thickness of 4 mm or greater
- Pyloric canal length greater than 16 mm are consistent with HPS.
What is a bezoar?
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.
