Congenital anomalies - Surgery Flashcards
Classify congenital anomalies of kidneys and ureters (A++)
Of number:
- Bilateral agenesis (extremely rare): it is incompatible with life.
- Unilateral agenesis: the other kidney undergoes compensatory hypertrophy to keep excretory function and healthy life.
- Supernumerary kidney: rare anomalies most common on left side and caudal to normal kidney .
Of site: (Ectopic kidney)
* Thoracic kidney: if the kidney ascends above the diaphragm.
* Pelvic kidney: if the kidney fails to ascend to its normal place in the flank and present in the pelvis.
Of fusion:
- Crossed ectopia with fusion
- Horseshoe kidney
- Complete fusion as in pelvic cake kidney
Pelvi-ureteric junction obstruction short note (Definition, Diagnosis and ttt) (A++)
-PUJO may be due to congenital defect in development of muscles or atresia at PUJ site, or compression from outside by aberrant crossing vessels to the lower pole of the kidney.
-PUJO can be detected by prenatal ultrasonography but the cases may present later by dull aching renal pain.
Diagnosis:
- US and urography reveal hydronephrosis with markedly dilated renal pelvis
- CT: demonstrates hydronephrosis
- Diuretic renography in equivocal cases to verify obstruction
Treatment: Excision of the adynamic segment (PUJ area) and re-anastomosis of the healthy upper end of the ureter to the pelvis
Ectopic ureteral orifice (B)
Ectopic ureteral orifice means that a ureter terminates at an abnormal site; mostly in urethra in males and in urethra or vagina in females. Most commonly associated with ureterocele and duplex system.
The male patients may present with epididymo-orchitis, but in female; if the ectopic ureteral orifice locates distal to external urethral sphincter or in the vagina, it gives the pathognomonic history of continuous dripping despite normal voiding .
Treatment: If No symptoms no treatment
- Ureterovesical reimplantation for symptomatic cases.
Ureterocele (Definition, diagnosis, ttt) (b)
Ureterocele is a cystic dilatation of the terminal part of the ureter that project into the bladder and/or urethra.
Diagnosis:
Ultrasound examination. Cystogram may show double-walled filling defect at the site of the ureteric orifice (cobra-head appearance).
Treatment:
Endoscopic incision of the wall of the ureterocele.
Bladder exstrophy (Definition, C/P and ttt) (A++)
Definition:
Bladder exstrophy is a rare congenital anomaly characterized by incomplete development of infra-umbilical abdominal wall and incomplete development of the anterior wall of the bladder. Clinically, the urinary bladder protrudes through the defect in the abdominal wall as an infra-umbilical reddish strawberry mass.
Clinical picture:
- A defect in anterior sub-umbilical abdominal wall.
- Absent anterior bladder wall.
- Epispadias in male and bifid clitoris in female.
- Widened symphysis pubis .
Treatment:
Bladder exstrophy cases should be referred to a highly specialized center whereas pediatric urologist is available as the most important criterion of good long-term results is successful initial closure. Within 48 hours, the first stage of repair can be done.
Posterior urethral valve (definition, c/p, ttt) (b)
Definition:
Posterior urethral valve is an obstructing membrane at the posterior urethra. It causes obstructive uropathy.
Clinical Picture:
-Most of the cases are discovered antenatal, during US examination.
-US findings: The UB is typically thick wall and trabeculated with elongated and dilated posterior urethra (key hole sign)
-Micturating cystourethrogram (MCUG): The best imaging technique for the diagnosis of posterior urethral valves. The diagnosis is best made during the micturition phase in lateral or oblique views, so the posterior urethra can be imaged adequately. Findings include dilatation and elongation of the posterior urethra. Vesicoureteral reflux seen in 50% of patients.
Treatment: Endoscopic valve ablation.
Hypospadias (Definition, complications and ttt) (A++)
Definition:
Hypospadias is a congenital defect characterized by abnormal opening of the urethral meatus in the ventral side of the penis instead of tip of glans.
The foreskin (prepuce) maybe deficient in the ventral aspect and may be associated with penile ventral curvature (chordee) or meatal stenosis. The combination of hypospadias and undescended testicle may indicate a disorder of sexual differentiation or ambiguous genitalia and require a genetic and endocrine work-up immediately after birth to exclude congenital adrenal hyperplasia.
Complications:
- Obstructive uropathy due to meatal stenosis.
- Psychological problems.
- Sexual and fertility problems due to the chordee.
Treatment: Surgical repair.
Foreskin (prepuce) may be used in surgical repair, so patients with hypospadias should not be circumcised until repaired.
Cryptorchidism (Definition, clinical exam, Complications and ttt) (A++)
Definition:
-Cryptorchidism; Crypto means hidden, orchid means testis. The testes develop from the mesodermal genital fold behind the peritoneum below the kidney.
-During intrauterine life, the testes start to descend towards the scrotum guided by the gubernaculums; it reaches the scrotum just before birth. The Incidence of undescended testicle is 3%. The cause of undescended testis is unknown but may be due to mechanical factors or gonadotrophic hormones deficiency.
Clinical examination:
Warm your hands and examine the scrotum and inguinal canal. Examine the patient in different positions (supine, frog leg or squatting). In case of retractile testis, it can be moved by hand from the groin into the scrotum.
Complications:
1. Infertility: Low sperm count. Due to thermal effect, as spermatogenesis requires a temperature less than of the body core. Early surgical correction is recommended before 1.5 years old.
2. Trauma: undescended testis is more liable for trauma.
3. Tumor Especially in intra-abdominal type, so all non-palpable testes should either be removed or placed in a palpable position.
4. Torsion: Undescended testis is more liable for torsion.
Treatment:
Ectopic testes are liable to same complications of the undescended testis, so surgical orchiopexy is indicated. If the testis does not descend by age of 6 months, it will probably remain undescended. Early surgical treatment is highly recommended before age of 1.5 years. Orchiopexy by fixation of the testis in a scrotal sub-dartos pouch and herniotomy for the associated hernia sac. For impalpable testis; laparoscopy as a diagnostic tool as well as the possibility for treatment in the same session.
Classification of mal descended testis (Unknown)
A. Palpable testis:
1. Retractile testis: Occurs in childhood due to an overactive cremasteric reflex when the skin of scrotum or thigh is stimulated. Can always be brought to bottom of scrotum by squatting in a warm room. Retractile testis requires NO treatment.
2. Undescended testis: The testis is arrested in some part of its path from the retroperitoneum to scrotum.
3. Ectopic testis: In which the testis is descended to ectopic abnormal position:
a. Superficial inguinal pouch (Most common site).
b. Base of the penis (pubic).
c. Perineum.
d. Femoral canal.
B. Impalpable testis:
- Intra-abdominal testis
- Inguinal but atrophic testis
- Absent or vanishing testis
