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Renal ectopia or ectopic kidney describes a kidney that is not located in its usual position. It results from the kidney failing to ascend from its origin in the true pelvis or from a superiorly ascended kidney located in the thorax.
It has an incidence of approximately 1/900.
Duplicated ureter or Duplex Collecting System is a congenital condition in which the ureteric bud, the embryological origin of the ureter, splits (or arises twice), resulting in two ureters draining a single kidney. It is the most common renal abnormality, occurring in approximately 1% of the population. The additional ureter may result in a ureterocele, or an ectopic ureter.
Duplicated ureter is the most common renal abnormality, occurring in approximately 1% of the population.
Race: Duplicated ureter is more common in Caucasians than in African-Americans.
Sex: Duplicated ureter is more common in females. However, this may be due to the higher frequency of urinary tract infections in females, leading to a higher rate of diagnosis of duplicated ureter.
Ectopic ureter (or ureteral ectopia) is a medical condition where the ureter, rather than terminating at the urinary bladder, terminates at a different site. In males this site is usually the urethra, in females this is usually the urethra or vagina. It can be associated with renal dysplasia, frequent urinary tract infections, and urinary incontinence (usually continuous drip incontinence). Ectopic ureters are found in 1 of every 2000–4000 patients, and can be difficult to diagnose, but are most often seen on CT scans.
Ectopic ureter is commonly a result of a duplicated renal collecting system, a duplex kidney with 2 ureters. In this case, usually one ureter drains correctly to the bladder, with the duplicated ureter presenting as ectopic.
Left untreated, urethral diverticulum can cause significant morbidity (sickness).
During surgery, there is a risk for complications due to the highly vascular nature of the tissue. The urethral sphincters and its smooth muscle, as well as the neck of the bladder, can be injured regardless of the surgical approach. Other complications from surgery can include urinary incontinence, stress incontinence, a urethrovaginal fistula, or recurrent diverticula. Horseshoe-shaped diverticula and diverticula that completely surround the urethra are both associated with worse outcomes, as are those located close to the bladder, and large (over 3–4 cm) diverticula.
The primary treatment for urethral diverticulum is surgical. The surgery is conducted transvaginally, usually when there is no acute inflammation to better aid dissection of the delicate tissues.
Ectopic thymus is a condition where thymus tissue is found in an abnormal location.
It can be associated with failure of descent.
It can also be associated with failure of involution.
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. It is also known as Greenberg dysplasia. Greenberg characterized the condition in 1988.
It has been associated with the lamin B receptor.
Although generally benign, the cyst must be removed if the patient exhibits difficulty in breathing or swallowing, or if the cyst is infected. Even if these symptoms are not present, the cyst may be removed to eliminate the chance of infection or development of a carcinoma, or for cosmetic reasons if there is unsightly protrusion from the neck.
Thyroid scans and thyroid function studies are ordered preoperatively; this is important to demonstrate that normally functioning thyroid tissue is in its usual area.
Surgical management options include the Sistrunk procedure, en bloc central neck dissection, suture-guided transhyoid pharyngotomy, and Koempel's supra-hyoid technique. Cystectomy is an inadequate approach.
The Sistrunk procedure is the surgical resection of the central portion of the hyoid bone along with a wide core of tissue from the midline area between the hyoid and foramen cecum. It involves excision not only of the cyst but also of the path's tract and branches, and removal of the central portion of the hyoid bone is indicated to ensure complete removal of the tract. The original Sistrunk papers (the "classic" procedure described in 1920, and the "modified" procedure described in 1928) are available on-line with a modern commentary.
In general, the procedure consists of three steps:
1. incision
2. resection of cyst and hyoid bone
3. drainage and closure
There are several versions of the Sistrunk procedure, including:
- "classic": excision of the center of the hyoid bone along with a thyroglossal duct cyst, removal of one-eighth inch diameter core of tongue muscle superior to the hyoid at a 45 degree angle up to the foramen cecum to include mucosa, removal of one-quarter inch of the center of the hyoid bone, closure of the cut ends of the hyoid bone, and placement of a drain.
- modified: dissection through the tongue base but not through the mucosa. The modified Sistrunk procedure is the procedure of choice in both primary and revision cases.
- hyoid cartilage division: In cases without mature ossification of the hyoid bone, the non-fused cartilage portion can be divided by monopolar Bovie electro-cauterization or scissors. There were no statistical differences between this modified Sistrunk and the conventional Sistrunk procedure.
The procedure is relatively safe. In a study of 35 pediatric patients, Maddalozzo et. al found no major complications, but did observe minor complications (6 patients presented with seroma and 4 patients with local wound infections). A more recent paper analyzed 24 research studies on different treatment complications of thyroglossal cyst, and reported a total minor complications rate of 6% for the Sistrunk operation (classical or modified) and simple cystectomy treatment modalities. The Sistrunk procedure also showed better outcomes concerning the rate of overall recurrence, i.e. has the lowest rate of recurrence.
Sistrunk procedure results in a 95% cure rate and 95–100% long-term survival.
With a high lesion, many children have problems controlling bowel function and most also become constipated. With a low lesion, children generally have good bowel control, but they may still become constipated.
For children who have a poor outcome for continence and constipation from the initial surgery, further surgery to better establish the angle between the anus and the rectum may improve continence and, for those with a large rectum, surgery to remove that dilated segment may significantly improve the bowel control for the patient. An antegrade enema mechanism can be established by joining the appendix to the skin (Malone stoma); however, establishing more normal anatomy is the priority.
Affected individuals have a somewhat shortened lifespan. The maximum described lifespan is 67 years. Adults with 13q deletion syndrome often need support services to maintain their activities of daily living, including adult day care services or housing services.
Paulus Aegineta [625-690 AD] described a surgical treatment for imperforate anus for the first time. Haly Abbas (949-982 AD) was the first to highlight preserving the sphincter muscles throughout the surgery and the prevention of strictures with a stent. He has reported the use of wine for wound care in this surgery. Some reports of survived children undergoing this surgery are available from the early medieval Islamic era.
Stafne defect is uncommon, and has been reported to develop anywhere between the ages of 11 and 30 years old, (although the defect is developmental, it does not seem to be present form birth, implying that the lesion develops at a later age). Usually the defect is unilateral (on one side only) and most commonly occurs in men.
Although there is no cure for 13q deletion syndrome, symptoms can be managed, usually with the involvement of a neurologist, rehabilitation physician, occupational therapist, physiotherapist, psychotherapist, nutritionist, special education professional, and/or speech therapist. If the affected child's growth is particularly slow, growth hormone treatment can be used to augment growth. Plastic surgeries can repair cleft palates, and surgical repair or monitoring by a pediatric cardiologist can manage cardiac defects. Some skeletal, neurological, genitourinary, gastrointestinal, and ophthalmic abnormalities can be definitively treated with surgery. Endocrine abnormalities can often be managed medically. Special educators, speech and occupational therapists, and physiotherapists can help a child develop skills in and out of school.
There is no known curative treatment presently. Hearing aids and cataract surgery may be of use. Control of seizures, heart failure and treatment of infection is important. Tube feeding may be needed.
A Gartner's duct cyst (sometimes incorrectly referred to as "vaginal inclusion cyst") is a benign vaginal cystic lesion that arises from the Gartner's duct, which is a vestigial remnant of the mesonephric duct (wolffian duct) in females. They are typically small asymptomatic cysts that occur along the lateral walls of the vagina, following the course of the duct. They can present in adolescence with painful menstruation (Dysmenorrhea) or difficulty inserting a tampon. They can also enlarge to substantial proportions and be mistaken for urethral diverticulum or other structures.
There is a small association between Gartner's duct cysts and metanephric urinary anomalies, such as ectopic ureter & ipsilateral renal hypoplasia. Because of this, imaging is recommended before excision.
The deformities are managed surgically to preserve the function of the limb.
Splenogonadal fusion is a rare congenital malformation that results from an abnormal connection between the primitive spleen and gonad during gestation. A portion of the splenic tissue then descends with the gonad. Splenogonadal fusion has been classified into two types: continuous, where there remains a connection between the main spleen and gonad; and discontinuous, where ectopic splenic tissue is attached to the gonad, but there is no connection to the orthotopic spleen. Patients with continuous splenogonadal fusion frequently have additional congenital abnormalities, most commonly cryptorchidism.
The anomaly was first described in 1883 by Bostroem. Since then more than 150 cases of splenogonadal fusion have been documented. The condition is considered benign. A few cases of testicular neoplasm have been reported in association with splenogonadal fusion. The reported cases have occurred in patients with a history of cryptorchidism, which is associated with an elevated risk of neoplasm.
Splenogonadal fusion occurs with a male-to-female ratio of 16:1, and is seen nearly exclusively on the left side. The condition remains a diagnostic challenge, but preoperative consideration of the diagnosis may help avoid unnecessary orchiectomy. On scrotal ultrasound, ectopic splenic tissue may appear as an encapsulated homogeneous extratesticular mass, isoechoic with the normal testis. Subtle hypoechoic nodules may be present in the mass. The presence of splenic tissue may be confirmed with a technetium-99m sulfur colloid scan.
High phosphate levels can be avoided with phosphate binders and dietary restriction of phosphate. If the kidneys are operating normally, a saline diuresis can be induced to renally eliminate the excess phosphate. In extreme cases, the blood can be filtered in a process called hemodialysis, removing the excess phosphate.
One person in every 100,000 is affected. Ollier disease is not normally diagnosed until toddler years because it is not very visible.
With the advent of IVF which bypasses the need for tubal function a more successful treatment approach has become available for women who want to conceive. IVF has now become the major treatment for women with hydrosalpinx to achieve a pregnancy.
Several studies have shown that IVF patients with untreated hydrosalpinx have lower conception rates than controls and it has been speculated that the tubal fluid that enters the endometrial cavity alters the local environment or affects the embryo in a detrimental way. Thus, many specialists advocate that prior to an IVF attempt, the hydrosalpinx should be removed.
No treatment is required, but neoplastic processes (metastatic maliganancy to the submandibular lymph nodes and/or salivary gland tumours) should be ruled out. This is usually done with clinical exam and imaging. Very rarely, since the defect contains salivary gland tissue, salivary gland tumors can occur within an established defect but there is likely no difference in the risk of neoplasia in salivary gland tissue at other sites.
A ectopic testis is a testicle that, although not an undescended testicle, has taken a non-standard path through the body and ended up in an unusual location.
The positions of the ectopic testis may be: in the lower part of the abdomen, front of thigh, femoral canal, skin of penis or behind the scrotum. The testis is usually developed, and accompanied by an indirect inguinal hernia. It may be divorced from the epididymis which may lie in the scrotum.
The occurrence of ectopia cordis is 8 per million births. It is typically classified according to location of the ectopic heart, which includes:
- Cervical
- Thoracic
- Thoracoabdominal
- Abdominal
Thoracic and thoraco-abdominal ectopia cordis constitute the vast majority of known cases.