The condition is often diagnosed through an MRI or ultrasound. Consulting a specialist (in this case a gynecologist) is recommended.

Imaging studies, such as an intravenous urogram (IVU), renal ultrasonography, CT or MRI, are also important investigations in determining the presence and/ or cause of hydronephrosis. Whilst ultrasound allows for visualisation of the ureters and kidneys (and determine the presence of hydronephrosis and / or hydroureter), an IVU is useful for assessing the anatomical location of the obstruction. Antegrade or retrograde pyelography will show similar findings to an IVU but offer a therapeutic option as well. Real-time ultrasounds and Doppler ultrasound tests in association with vascular resistance testing helps determine how a given obstruction is effecting urinary functionality in hydronephrotic patients.

In determining the cause of hydronephrosis, it is important to rule out urinary obstruction. One way to do this is to test the kidney function. This can be done by, for instance, a diuretic intravenous pyelogram, in which the urinary system is observed radiographically after administration of a diuretic, such as 5% mannitol, and an intravenous iodine contrast. The location of obstruction can be determined with a Whittaker (or pressure perfusion) test, wherein the collecting system of the kidney is accessed percutaneously, and the liquid is introduced at high pressure and constant rate of 10ml/min while measuring the pressure within the renal pelvis. A rise in pressure above 22 cm HO suggests that the urinary collection system is obstructed. When arriving at this pressure measurement, bladder pressure is subtracted from the initial reading of internal pressure. (The test was first described by Whittaker in 1973 to test the hypothesis that patients' whose hydronephrosis persists after the posterior urethral valves have been ablated usually have ureters that are not obstructed, even though they may be dilated.)

Kay recommends that a neonate born with untreated in utero hydronephrosis receive a renal ultrasound within two days of birth. A renal pelvis greater than 12mm in a neonate is considered abnormal and suggests significant dilation and possible abnormalities such as obstruction or morphological abnormalities in the urinary tract.

The choice of imaging depends on the clinical presentation (history, symptoms and examination findings). In the case of renal colic (one sided loin pain usually accompanied by a trace of blood in the urine) the initial investigation is usually a spiral or helical CT scan. This has the advantage of showing whether there is any obstruction of flow of urine causing hydronephrosis as well as demonstrating the function of the other kidney. Many stones are not visible on plain X-ray or IVU but 99% of stones are visible on CT and therefore CT is becoming a common choice of initial investigation. CT is not used however, when there is a reason to avoid radiation exposure, e.g. in pregnancy.

For incidentally detected prenatal hydronephrosis, the first study to obtain is a postnatal renal ultrasound, since as noted, many cases of prenatal hydronephrosis resolve spontaneously. This is generally done within the first few days after birth, although there is some risk that obtaining an imaging study this early may miss some cases of mild hydronephrosis due to the relative oliguria of a newborn. Thus, some experts recommend obtaining a follow up ultrasound at 4–6 weeks to reduce the false-negative rate of the initial ultrasound. A voiding cystourethrogram (VCUG) is also typically obtained to exclude the possibility of vesicoureteral reflux or anatomical abnormalities such as posterior urethral valves. Finally, if hydronephrosis is significant and obstruction is suspected, such as a ureteropelvic junction (UPJ) or ureterovesical junction (UVJ) obstruction, a nuclear imaging study such as a MAG-3 scan is warranted.

The Society of Fetal Ultrasound has developed a grading system for hydronephrosis, initially intended for use in neonatal and infant hydronephrosis, but it is now used for grading hydronephrosis in adults as well:

- Grade 0 – No renal pelvis dilation. This means an anteroposterior diameter of less than 4 mm in fetuses up to 32 weeks of gestational age and 7 mm afterwards. In adults, cutoff values for renal pelvic dilation have been defined differently by different sources, with anteroposterior diameters ranging between 10 and 20 mm. About 13% of normal healthy adults have a transverse pelvic diameter of over 10 mm.

- Grade 1 (mild) – Mild renal pelvis dilation (anteroposterior diameter less than 10 mm in fetuses) without dilation of the calyces nor parenchymal atrophy

- Grade 2 (mild) – Moderate renal pelvis dilation (between 10 and 15 mm in fetuses), including a few calyces

- Grade 3 (moderate) – Renal pelvis dilation with all calyces uniformly dilated. Normal renal parenchyma

- Grade 4 (severe) – As grade 3 but with thinning of the renal parenchyma

While most cases of horseshoe kidneys are asymptomatic and discovered upon autopsy, the condition may increase the risk for:

- Kidney obstruction – abnormal placement of ureter may lead to obstruction and dilation of the kidney.

- Kidney infections – associated with vesicoureteral reflux.

- Kidney stones – deviant orientation of kidneys combined with slow urine flow and kidney obstruction may lead to kidney stones.

- Kidney cancer – increased risk of renal cancer, especially Wilms' tumor, transitional cell carcinoma, and an occasional case report of carcinoid tumor. Despite increased risk, the overall risk is still relatively low.

The prevalence of horseshoe kidneys in females with Turner Syndrome is about 15%.

It can be associated with trisomy 18.

It can be associated with venous anomalies like left sided IVC 9.

Imaging studies are performed before surgery or biopsy to preclude an intracranial connection. Images usually show a sharply circumscribed but expansile mass. It may be difficult to exclude the intracranial connection if the defect is small whether employing computed tomography or magnetic resonnance.

The most common missed lesion is within the nasal cavity, where a fibrosed nasal polyp may be considered. However, it does not have glial tissue. Further, a polyp usually has mucoserous glands. The lesion is frequently misintrepreted as scar in the subcutaneous tissues, but scar in a <2 year old child would be uncommon. Special stains are frequently required to highlight the diagnosis.

Although rare, this condition is often treatable with surgery. In most cases, the blind hemivagina is opened, and the fluid drained.

In patients with this condition, the central portion of the kidney may be found just inferior to the inferior mesenteric artery because the normal embryologic ascent of the kidneys is arrested by its presence in people with central fusion of the kidneys. Horseshoe kidney is often asymptomatic, though persons affected by this condition may experience nausea, abdominal discomfort, kidney stones and urinary tract infections at greater frequency than those without renal fusion. There is currently no treatment for renal fusion other than symptomatic treatment.

Imaging Findings -

The 2 kidneys on opposite sides of the body with the lower poles fused in midline. Midline or symmetrical fusion (90% of cases).

May be missed on US, therefore pay careful attention to identification of lower poles of kidneys.

Renal long axis medially orientated,

Lower poles with curved configuration, elongation and poorly defined

Isthmus crosses midline anterior to spine and great vessels.

US for diagnosis in utero

IVP followed by CT or scintigraphy for pre-operative assessment

Variant arterial supply -

Bilateral renal arteries,

Inferior mesenteric Artery,

Arteries arising from aorta or common iliac, internal iliac, external iliac or inferior mesenteric arteries.

The lower poles of these kidneys fuse in the midline anterior to the aorta and spine. The isthmus is usually located at L4/5 level between the aorta and IMA.

Nuclear medicine (DMSA) scan confirms horseshoe kidney with fusion of both renal lower poles.

Diagnosis is made when several characteristic clinical signs are observed. There is no single test to confirm the presence of Weill–Marchesani syndrome. Exploring family history or examining other family members may prove helpful in confirming this diagnosis.

Nutcracker syndrome can be diagnosed with:

- Left renal venography—considered to be the gold standard test.

- Computed tomography (CT).

- Abdominal ultrasonography—not definitive but has been found to be useful.

Upon delivery, the exposed bladder is irrigated and a non-adherent film is placed to prevent as much contact with the external environment as possible. In the event the child was not born at a medical center with an appropriate exstrophy support team then transfer will likely follow. Upon transfer, or for those infants born at a medical center able to care for bladder exstrophy, imaging may take place in the first few hours of life prior to the child undergoing surgery.

Primary (immediate) closure is indicated only in those patients with a bladder of appropriate size, elasticity, and contractility as those patients are most likely to develop a bladder of adequate capacity after early surgical intervention.

Conditions that are absolute contraindications despite bladder adequacy include duplication of the penis or scrotum and significant bilateral hydronephrosis.

Since it is a rare disease, it remains a diagnosis of exclusion of other conditions with similar symptoms. The diagnosis is supported by the results of imaging studies such as computed tomography or magnetic resonance imaging, ultrasound of the abdomen (with or without doppler imaging) or intravenous urography.

Specialist vascular ultrasonographers should routinely look for left ovarian vein reflux in patients with lower limb varices especially if not associated with long or short saphenous reflux. The clinical pattern of varices differs between the two types of lower limb varices.

CT scanning is used to exclude abdominal or pelvic pathology. CT-Angiography/Venography can often demonstrate left ovarian vein reflux and image an enlarged left ovarian vein but is less sensitive and much more expensive than duplex Doppler ultrasound examination. Ultrasound requires that the ultrasonographer be experienced in venous vascular ultrasound and so is not always readily available. A second specialist ultrasound exam remains preferable to a CT scan.

As a wide range of pelvic and abdominal pathology can cause symptoms consistent with those symptoms due to left ovarian vein reflux, prior to embolisation of the left ovarian vein, a careful search for such diagnoses is essential. Consultation with general surgeons, gynaecologists, and possibly CT scanning should always be considered.

In a small retrospective study of 25 pregnancies five factors were found to be strongly associated with a prenatal diagnosis of bladder exstrophy:

- Inability to visualize the bladder on ultrasound

- A lower abdominal bulge

- A small penis with anteriorly displaced scrotum

- A low set umbilical insertion

- Abnormal widening of the iliac crests

While a diagnosis of bladder exstrophy was made retrospectively in a majority of pregnancies, in only three cases was a prenatal diagnosis made.

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.

Eye surgery has been documented to help those with ocular diseases, such as some forms of glaucoma.

However, long term medical management of glaucoma has not proven to be successful for patients with Weill–Marchesani syndrome. Physical therapy and orthopedic treatments are generally prescribed for problems stemming from mobility from this connective tissue disorder. However, this disorder has no cure, and generally, treatments are given to improve quality of life.

Treatment for NPS varies depending on the symptoms observed.

- Perform screening for renal disease and glaucoma, surgery, intensive physiotherapy, or genetic counseling.

- ACE inhibitors are taken to treat proteinuria and hypertension in NPS patients.

- Dialysis and renal transplant.

- Physical therapy, bracing and analgesics for joint pain.

- Other surgery treatments such as patella realignment, joint replacement, and the cutting away of the head of radius.

Diagnosis is made through a combination of patient history, neurological examination, and medical imaging. Magnetic resonance imaging (MRI) is considered the best imaging modality for Chiari malformation since it visualizes neural tissue such as the cerebellar tonsils and spinal cord as well as bone and other soft tissues. CT and CT myelography are other options and were used prior to the advent of MRI, but they characterize syringomyelia and other neural abnormalities less well.

By convention the cerebellar tonsil position is measured relative to the basion-opisthion line, using sagittal T1 MRI images or sagittal CT images. The selected cutoff distance for abnormal tonsil position is somewhat arbitrary since not everyone will be symptomatic at a certain amount of tonsil displacement, and the probability of symptoms and syrinx increases with greater displacement, however greater than 5 mm is the most frequently cited cutoff number, though some consider 3–5 mm to be "borderline," and symptoms and syrinx may occur above that. One study showed little difference in cerebellar tonsil position between standard recumbent MRI and upright MRI for patients without a history of whiplash injury. Neuroradiological investigation is used to first rule out any intracranial condition that could be responsible for tonsillar herniation. Neuroradiological diagnostics evaluate the severity of crowding of the neural structures within the posterior cranial fossa and their impact on the foramen magnum. Chiari 1.5 is a term used when both brainstem and tonsillar herniation through the foramen magnum are present.

The diagnosis of a Chiari II malformation can be made prenatally through ultrasound.

Following urethroplasty, patients should be monitored for a minimum of 1 year, since the vast majority of recurrences occur within 1 year.

Because of the high rate of recurrence following dilation and other endoscopic approaches, the provider must maintain a high index of suspicion for recurrence when the patient presents with obstructive voiding symptoms or urinary tract infection.

FEVR is, as its name suggests,

familial and can be inherited in an

autosomal dominant, autosomal

recessive or X-linked recessive pattern.1-3 It is caused by mutations in

FZD4, LRP5, TSPAN12 and NDP

genes, which impact the wingless/

integrated (Wnt) receptor signaling

pathway. 3 Disruption of this path

way leads to abnormalities of vascu-

lar growth in the peripheral retina. 2,3

It is typically bilateral, but asymmetric, with varying degrees of

progression over the individual’s

lifetime. Age of onset varies, and

visual outcome can be strongly

influenced by this factor. Patients

with onset before age three have a

more guarded long-term prognosis

whereas those with later onset are

more likely to have asymmetric

presentation with deterioration of

vision in one eye only. 2-3 However,

because FEVR is a lifelong disease,

these patients are at risk even as

adults.2 Ocular findings and useful

vision typically remain stable if the

patient does not have deterioration

before age 20.2,4 Due to the variability and unpredictability of the

disease course, patients with FEVR

should be followed throughout

their lifetime.

Clinical presentation can vary

greatly. In mild variations, patients

may experience peripheral vascular

changes, such as peripheral avascular zone, vitreoretinal adhesions,

arteriovenous anastomoses and a

V-shaped area of retinochoroidal

degeneration. 4 Severe forms may

present with neovascularization,

subretinal and intraretinal hemorrhages and exudation. 4 Neovascularization is a poor prognostic

indicator and can lead to retinal

folds, macular ectopia and tractional retinal detachment. 2,4 Widefield FA has been crucial in

helping to understand this disease,

as well as helping to confirm the

diagnosis. An abrupt cessation

of the retinal capillary network

in a scalloped edge posterior to

fibrovascular proliferations can

be made using FA.2,3,5 Patients can

also show delayed transit filling on

FA as well as delayed/patchy choroidal filling, bulbous vascular terminals, capillary dropout, venous/venous shunting and abnormal

branching patterns. 2,3,5 The staging of FEVR is similar

to that of retinopathy of prematurity. The first two stages involve an

avascular retinal periphery with or

without extraretinal vascularization (stage 1 and 2, respectively). 4 Stages three through five delineate

levels of retinal detachment; stage 3

is subtotal without foveal involvement, stage 4 is subtotal with foveal

involvement and stage 5 is a total

detachment, open or closed funnel.4

Because there was neovascularization in the absence of retinal detachment, our patient was

considered to have

stage 2.

Treatment is based

on the stage of the disease. Stage 1 does not

require treatment and

should be observed. 4

Neovascularization

(stage 2) responds well

to laser ablation or

cryotherapy.2,4 Eyes

with retinal detachments (stages

3 through 5) require surgery, with

earlier stages requiring scleral

buckles and later stages ultimately

needing vitrectomy. 2,4

More recently, the efficacy of

anti-VEGF intravitreal injections

has been studied. In one study,

these injections, as an in adjunct

with laser, helped early stages

achieve stabilization, but further

investigation is needed.6

Crossed dystopia (syn.unilateral fusion cross fused renal ectopia) is a rare form of renal ectopia where both kidneys are on the same side of the spine. In many cases, the two kidneys are fused together, yet retain their own vessels and ureters. The ureter of the lower kidney crosses the midline to enter the bladder on the contralateral side. Both renal pelvis can lie one above each other medial to the renal parenchyma (unilateral long kidney) or the pelvis of the crossed kidney faces laterally (unilateral "S" shaped kidney). Urogram is diagnostic.

The anomaly can be diagnosed through ultrasound of urography, but surgical intervention is only necessary if there are other complications, such as tumors or pyelonephritis.

In the late 19th century, Austrian pathologist Hans Chiari described seemingly related anomalies of the hindbrain, the so-called Chiari malformations I, II and III. Later, other investigators added a fourth (Chiari IV) malformation. The scale of severity is rated I – IV, with IV being the most severe. Types III and IV are very rare.

Other conditions sometimes associated with Chiari malformation include hydrocephalus, syringomyelia, spinal curvature, tethered spinal cord syndrome, and connective tissue disorders such as Ehlers-Danlos syndrome and Marfan syndrome.

Chiari malformation is the most frequently used term for this set of conditions. The use of the term Arnold–Chiari malformation has fallen somewhat out of favor over time, although it is used to refer to the type II malformation. Current sources use "Chiari malformation" to describe four specific types of the condition, reserving the term "Arnold-Chiari" for type II only. Some sources still use "Arnold-Chiari" for all four types.

Chiari malformation or Arnold–Chiari malformation should not be confused with Budd-Chiari syndrome, a hepatic condition also named for Hans Chiari.

In Pseudo-Chiari Malformation, Leaking of CSF may cause displacement of the cerebellar tonsils and similar symptoms sufficient to be mistaken for a Chiari I malformation.

Treatment consists of painkillers and surgical ablation of the dilated vein. This can be accomplished with open abdominal surgery (laparotomy) or keyhole surgery (laparoscopy). Recently, the first robot-assisted surgery was described.

Another approach to treatment involves catheter-based embolisation, often preceded by phlebography to visualise the vein on X-ray fluoroscopy.

Ovarian vein coil embolisation is an effective and safe treatment for pelvic congestion syndrome and lower limb varices of pelvic origin. Many patients with lower limb varices of pelvic origin respond to local treatment i.e. ultrasound guided sclerotherapy. In those cases, ovarian vein coil embolisation should be considered second line treatment to be used if veins recur in a short time period i.e. 1–3 years. This approach allows further pregnancies to proceed if desired. Coil embolisation is not appropriate if a future pregnancy is possible. This treatment has largely superseded operative options.

Coil embolisation requires exclusion of other pelvic pathology, expertise in endovascular surgery, correct placement of appropriate sized coils in the pelvis and also in the upper left ovarian vein, careful pre- and post-procedure specialist vascular ultrasound imaging, a full discussion of the procedure with the patient i.e. informed consent. Complications, such as coil migration, are rare but reported. Their sequelae are usually minor.

If a Nutcracker compression (see below) is discovered, stenting of the renal vein should be considered before embolization of the ovarian vein. Reducing outflow obstruction should always be the main objective.

Treatment depends on the severity and symptoms. Treatments include:

- Endovascular stenting.

- Renal vein re-implantation.

- Gonadal vein embolization.

The use of bioengineered urethral tissue is promising, but still in the early stages. The Wake Forest Institute of Regenerative Medicine has pioneered the first bioengineered human urethra, and in 2006 implanted urethral tissue grown on bioabsorbable scaffolding (approximating the size and shape of the affected areas) in five young (human) males who suffered from congenital defects, physical trauma, or an unspecified disorder necessitating urethral reconstruction. As of March, 2011, all five recipients report the transplants have functioned well.