Congenital Anomalies And Variants Flashcards
What are variants?
Variation of anatomy
Are variants pathological?
No
What are examples of variants? 2
- Redials lobe
- Junctional fold
Can variants affect function?
Yes it could interfere
What are anomalies in terms of major and minor impacts?
Both
What are some differences with anomalies? 4
Abnormalities in
1. Number
2. Size
3. Position
4. Structure
Can anomalies interfere with function?
More likely to interfere
What are hypertrophied columns of bertin? 2
- Double layers of cortex between pyramid
- Indents in renal sinus laterally
Where are hypertrophied columns of bertin located?
Upper/ middle portions of kidney
How big should HCB be?
Should not be >3cm
What does HCB look like sonographically compared to cortex?
Isoechoic to continuous with cortex
What is junctional parenchymal defect?
Incomplete embryological fusion
Junctional parenchymal defects are identified more often where?
On the right
What does junctional folds look like sonographically?
Hyperechoic, wedge shaped
What can junctional parenchymal defects be confused with?
Scarring
What is an extra renal pelvis?
When the renal pelvis is located medial to renal sinus
What might extra renal pelvis mimic?
May mimic hydro
What is extra renal pelvis more prone to?
Hydronephrosis
Can the extra renal pelvis depress?
Yes, when patient is placed in the prone position
Is extra renal pelvis a normal variant?
Yes
Where is dromedary humps located?
Lateral aspect of the left kidney
What does dromedary hump look like?
Thickening or bulging of cortex
What do we visualize with the dromedary hump?
Visualize CM junction to rule out mass
What is fetal lobulation?
Infolding of cortex but no thinning
What is the contour of fetal lobulation?
Scalloped
How often do we see fetal lobulation?
51% of adults
What is renal sinus Lipomatosis?
When there is excess fatty infiltration in sinus
What conditions is renal sinus lipomatosis related to? 2
- Aging commonly
- Obesity
What does the renal sinus lipomatosis look like sonographically?
Enlarged echogenic area
What is the most common congenital anomaly of the UT?
Duplicated collecting system
What does a complete duplicated collecting system look like? 3
- 2 collecting systems
- 2 Ureters
- Superior ureter has ectopic bladder insertion
What does a incomplete duplicated collecting system look like?
Ureters join and then insert into bladder
What does duplicated collecting systems look like or is associated with? 4
- UPJ obstruction
- Uterus didelphys
- Reflux
- Ureterocele
What are ureteroceles?
Cystic dilation of terminal ureter
How does someone get ureterocele?
Congenital or acquired
What conditions does ureteroceles have a higher incidence of?
UTIs and obstructions
What are horseshoe kidneys?
Fusion at lower poles
Malrotation and associated UPJ obstructions lead to what?
Increased risk for infection and stone formation
What does horseshoe kidneys look like on u/s? 4
- Lower pole obscured
- Lower in abdomen
- Inferior pole more medial
- Isthmus anterior to great vessels
What is an ectopic kidney?
Failure to ascend in utero
Where is the ectopic kidney usually?
Typically in pelvis and unilateral
How big is the ectopic kidney?
Small
How is the ectopic kidney typically placed in the pelvis?
Abnormally rotated
What is crossed ectopia of the kidney? 2
- Both kidneys on same side
- Ectopic kidney fused to other
What is compensatory hypertrophy?
When Tissue or organs expands in volume?
Is compensatory hypertrophy diffuse or focal?
Either or
What does compensatory hypertrophy cause the kidney to do?
Enlarge
What are some conditions that cause compensatory hypertrophy? 2
- Unilateral renal agenesis
- Nephrectomy
What are supernumerary kidneys?
- Small extra kidney
Where does the blood supply of the supernumerary kidney come from?
Own supply
How common is supernumary kidneys?
Very rare
What is an intrathoracic kidney?
When the kidney ascends to high in the body
How common is renal hypoplasia?
True form very rare
What is renal hypoplasia?
To few nephrons
Is renal hypoplasia is unilateral or bilateral?
Can be both
What does renal hypoplasia look like on u/s? 2
- Small kidney
- May be difficult to visualize
Are congenital megacalices obstructive?
No
Congenital megacalices are unilateral or bilateral?
Typically unilateral
How does congenital megacalices function?
Normally
What does congenital megacalices look like? 2
- Normal parenchyma
- Enlarged clubbed calyces
Individuals with congenital megacalices are at risk of what?
Kidney stone
What is a congenital megaureter?
Functional ureter obstruction
Where is the location of congenital megaureter?
Distal third of ureters
Which demographic does congenital megaureters affect?
Men>women
Which side does congenital megaureters affect?
Lt > RT
What can congenital megaureters lead to?
Hydronephrosis
What does congenital megaureter look like on U/S?
Fusiform dilation of the distal third of the ureter
What does all UPJ obstructions appear with? (S/S)
Hydronephrosis
Which demographic is affected typically with UPJ obstruction?
Males>Females
In terms of UPJ obstructions, which side does it usually occur on?
Left > right
What is the most common neonatal palpable abdominal mass? (Where does it appear)
UPJ obstruction
UPJ obstructions can be functional or anatomical?
Both
UPJ obstruction can have an increased incidence in which two disorders?
- MCDK
- Contralateral renal agenesis
What are some s/s of UPJ obstruction? 4
- Chronic, vague back pain
- Ballooning of the renal pelvis (Pelvicaliectasis)
- Cortical atrophy
- Ureter normal
When does multiple renal artery’s occur?
Developmental
What is multiple renal arteries a result of?
Failure of regression of renal vessels during ascent
What is bladder extrophy?
Large anterior abdominal wall defect where the bladder protrudes out of the abdomen.
Who’s is affected by exstrophy?
Males
How common is bladder exstrophy?
Rare
Who is affected by hypospadia?
Males
In terms of hypospaid, what do we need to do?
Check kidneys for anomalies
What is bladder hypospadia?
Urethra opens posteriorly, not centrally
What is bladder outlet obstruction? What does it cause?
- Obstruction
- Hydronephrosis
Besides hydronephrosis, What are some things that we see with bladder outlet obstruction? 3
- Neurogenic
- Tumours
- Congenital malformations?
Posterior urethral valves are most common in which demographic?
Males
What are posterior urethral valves?
Flap of mucosa obstruction outlet
What does posterior urethral valves look like? 4
- Palpable firm mass/ failure to thrive
- Thick walled bladder, dilated posterior urethra (keyhole sign)
- Dilated ureters
- Hydroneprhosis
What are urachal anomalies?
When the bladder descends into the true pelvis a urachal formed
Where is urachal anomalies located in a fetus?
Bladder located at umbilicus
How many types of urachal anomalies are there?
Four types
Urachal Anomalies usually do what?
Obliterate
What are the four types of urachal anomalies?
- Patent (Most common)
- Urachal cyst
- Urachal sinus
- Diverticulum
What happens to the urachal normally?
Obliterates
What is situs inversus?
Organs in the abdominal cavity reversed
What does the organs look like with situs inversus? 3
- Liver in left hypochondrium
- Spleen on right
- Orientation of heart reversed
What are vascular variations?
Variations in hepatic vein branching
What is something we see with vascular variations? 3
- Accessory hepatic veins
- Replaced hepatic artery
- Extra renal arteries
What does the hepatic artery branch from in terms of vascular variation? 2
- Left gastric artery
- SMA
What is the prognosis of complete organ agenesis?
Incompatible with life
What are some organs typically affected by complete organ agenesis? 3
- Liver
- Adrenal (bilateral)
- Kidneys (bilateral)
How often does complete organ agensis affect GB? What is the prognosis?
Rare and not life threatening
How common is complete organ agenesis of the bladder? What is the prognosis? 2
- Rare
- Stillborn or anomalies
Where are some common areas for partial agenesis? 3 (organ)
- Liver
- Pancreas
- One kidney or Adrenal gland
What is seen with partial organ agensis?
Compensatory hypertrophy
How common is biliary atresia?
Rare
What is biliary atresia?
Ducts from liver hilum to duodenum obliterated
How is biliary atresia treated?
Surgically
What might patients with biliary atresia have when born? (s/s)
Jaundice 2-3 weeks after birth
What is seen with biliary atresia in terms of the GB and the CBD? 2
- Small or absent GB
- Non visualization of the CBD
What are common duplication of organs? 5
- Multiple hepatic ducts
- Duplicated renal collection system
- Gallbladder (only one functions)
- Pancreatic tail (Larger than normal)
- Accessory adrenal glands
If there is accessory duplication of the adrenal glands, where are they located? Is it easily found on u/s?
- Located anywhere in the body
- Undectable u/s
What are 5 examples of ectopic organs?
- Kidneys
- Urethral insertion
- Gallbladder
- Pancreatic tissue
- Accessory spleens
What are pancreatic anomalies? 2
- Annular
- Pancreatic division
How common is annular pancreatic anomalies?
Rare
Who is most commonly affected by annular pancreatic anomalies ?
Males> females
What does annular pancreatic anomalies look like?
Heads surrounds the 2nd part duodenum
What is pancreatic division?
Dorsal and ventral buds do not fuse therefore we have two separate ducts
Pancreatic divisum usually results in what disease?
Pancreatitis
What are two adrenal gland anomalies?
- Congenital hypoplasia
- Congenital hyperplasia
What is Congential hypoplasia of adrenal glands?
When hormone production altered
Who is most likely affected by adrenal congenital hypoplasia?
Mostly Male
What do we see with congenital hypoplasia of the adrenal glands?
Hypogonadism
What is congenital hyperplasia of adrenal glands?
Interferes with cortisol and aldosterone production
Congenital hyperplasia of adrenal gland are autosomal what?
Recessive
Who is most likely affected by congenital hyperplasia of the adrenal glands?
Females
What is a s/s of congenital hyperplasia?
Precocious puberty
What does congenital hyperplasia of the adrenal gland looks like on u/s?
Normal or diffusely enlarged
What are examples of splenic variants? 2
- Accessory spleen
- Splenunculi
Where are splenic variants located?
At splenic hilum
What splenic variants texture and echogenicity?
Normal
What is a born again spleen?
Hypertrophy of a accessory spleen or other splenic tissue post splenectomy
What is a wandering spleen? What is it prone to? 2
- Long mesentery
- Prone to torsion
What is congenital splenic abnormality part of spectrum of anomalies known as what?
visceral heterotaxy
What happens with asplenia? 3
Dominant right side organs
1. Midline liver
2. GU/GI tract anomalies
3. Complex cardiac malformation
What happens with polyspenia? 3
Dominant left sided organs
1. Biliary atresia
2. Absense of GB
3. GI abnormalities
What is hypertrophic pyloric stenosis? 2
- Congenital narrowing of the pylorus
- Hypertrophy of the pyloric muscle
Who is usually affected by hypertrophy pyloric stenosis? (Gender)
Males > females
When does hypertrophy pyloric stenosis present?
First 2 months of life
What are hypertrophic pyloric stenosis s/s? 4
- Projective vomiting
- Palpable, olive shaped mass
- Dehydration
- Weight loss, failure to thrive
What is the technique for finding HPS? 3
- Supine and RLD
- Long and short axis
- Evaluate real time motion
What does HPS look like on u/s? 3
- Donut sign
- Muscle wall thickness 4mm or greater
- Pylorus canal length >16mm
What is Bezoars? 3
- Masses of foreign material in the stomach
- Hair
- Inspissated milk in an infant
