### Incidence:

Rare – the precise incidence is unknown, but is less than 1 in 100,000 live births with a slight male predominance.

###Embryology:
Sternal development begins during the 6th fetal week with paired parallel bands of condensed mesenchyme. By the 10th week of gestation cells migrate from two lateral plates to fuse in the midline from front to back and top to bottom. The plates begin to chondrify immediately. At the same time, at the top of this area, a “presterum” forms. The lateral bands and the presternum fuse at the top at about 7 weeks, and laterally the bands fuse to the rib tips. Fusion is nearly complete by 10 weeks. Bone formation (ossification) occurs much later, and is not complete until puberty. Sternal fusion defects vary; the inferior type is less common.Isolated sternal clefts are probably due to failure of the mesenchymal plate fusion process about the 8th week of gestation. Penatology of Cantrell is actually a “field defect”.

###Genetics:
*Hoxb* gene expression is a possible factor in these abnormalities, but the precise cause is unknown. Sternal clefts are usually isolated; alcohol and drug ( methylcobalamine) use in the mother may be a risk factor for sternal clefts.

Cantrell’s pentalogy is generally sporadic, but familial cases have been described infrequently (X-linked recessive). It has also been associated with: viral infection, maternal abuse of betaaminopropionitrile, and chlorine inhalation, [Engum] as well as associated with trisomies 13, 18, and 21, and Turner syndrome.

###Definition:
1. Supraumbilical omphalocele
2. Lower sternal cleft
3. Diaphragmatic defect anteriorly
4. Pericardial defect
5. Intrinsic structural heart abnormality

All 5 defects may not be present.

###Treatment:
Ventilatory issues are often the major challenge in these patients as well as the most common cause of death. Permissive hypercapnia (as for CDH) is a useful management strategy. Topic escharotomizing agents for the abdominal wall defect, with delayed coverage via skin graft is often necessary. The cardiac defects and their management vary widely.

###Outcome:
The cardiac defect often consists of TOF or VSD abnormalities; in one series (O’Gorman et al PMID 19322603) only 4 of 7 survived, and prolonged mechanical ventilation was required.

###References:
- Classic paper 1958 : Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet 1958;107:602-14.
- Engum SA. Embryology, sternal clefts, ectopia cordis, and Cantrell’s pentalogy. Seminars in Pediatric Surgery. 2008;17:154-160.

Marfan’s Diagnosis
This is a clinical diagnosis, based on the “Ghent criteria”, named after the city in Belgium where doctors decided which features to include on the list.

|Body System |Major Criteria |Minor Criteria |
|:———-| —————————:| —————————:|
|Skeletal System|At least 4 of the following:|minor pectus excavatum|
||pectus carinatum|arched palate and crowded teeth|
||pectus excavatum|typical facies|
||Arm span greater than height, OR Reduced upper to lower segment ratio |very flexible joints|
|| + wrist sign (thumb and little finger overlap when you grasp the other wrist)||
|| + thumb sign (put your thumb on your hand and it extends beyond the palm)||
||scoliosis > 20 degrees||
||spondylolisthesis||
||flat feet (pes planus)||
||protrusion actebula (very deep hip sockets)||
|:———-| —————————:| —————————:|
|Ocular System (eyes)|dislocated lens|Abnormally flat cornea (by keratometry)|
|||US showing abnormally increased axial length of the globe|
|||hypoplastic iris or ciliary muscle, causing decreased miosis |
|:———-| —————————:| —————————:|
|CV|ascending aortic aneurysm or dilation|MV proplapse|
||ascending aorta dissection|enlarged pulm artery at < 40 yo|
|||ca++ in MV before age 40 y|
|||aortic dissection < 50 yo|
|||thoracic or abdomenal Ao aneurysm < 50 yo|
|:———-| —————————:| —————————:|
|Lungs|None|Spontaneous PTX|
|||Apical Blebs|
|:———-| —————————:| —————————:|
|Skin|None|Skin stretch marks|
|||recurrent hernias|
|:———-| —————————:| —————————:|
|Spine|dural ectasia||

Title: Urology Handbook
Author: Charles L. Snyder

Testicular Microlithiasis

Marker for increased risk of testicular malignancy: The risk is increased if

1. Symptomatic
2. History of UDT (10% incidence of CA)
3. Family history of testicular CA
4. Other malignancies in patient

Usual management in the absence of the above is

• US every year
• monthly self-exam
• If any of the above, q 3MO US is obtained

24 – Hour Urinary Calcium

Normal value is < 4 mg/kg/day; results needed are wt (in kg), total urine vol (TUV), and Ca++(in mg/dl)

1. Move the decimal point 2 steps to the left to convert 34 mg/dL to .34 mg/ml
2. Multiply .34 mg by TUV (eg. 350 ml) to get mg / day
3. Divide by weight in kg to get mg/kg/day

Bladder capacity for < 2 yrs old BC = (0.5 * Age+6)

IVP in OR

• 2 cc’s of 25% hypaque/pound

Hemorrhagic Cystitis

• Alum 1% aluminum potassium sulfate
• use 30 gms in 3L of sterile water filtered through a sterilizing filter
• use 2 – 5 L during the 1st hours, then 1 L q 2-5 hrs
• continue for 5-8 hrs after bleeding stops.

Cystoscopy JJ Stent

1. Place Cystoscope
2. 4.5 or 5.5 Pollock Stent
3. Guidewire w Fluoro
4. Removal of Pollock stent
5. Advance JJ Stent over guidewire
6. Fluoro confirmation of position

Flowmax dose is 0.4 mg po qhs

Urodynamic study – dictation

1. CMG
2. Evoked response
3. EMG sphincter
4. Urethral Pressure Profile
5. Uroflowmetry
6. Voiding pressure
7. If ditropan is given before or during a urodynamic study

- Do the study without the ditropan, administer 0.2mg/kg of ditropan intravesically, and wait 40 minutes, then repeat the study to see if the ditropan will be beneficial.

Follow-up after ureteral re-implantation

1. Ultrasound at 2 weeks to r/o dilation of upper tracts
2. VCUG at 6 months – if still has reflux, wait another 6 mo and repeat before getting excited, since there may still be poor compliance/thickening of the bladder wall, resulting in distortion.

Follow-up for posterior urethral valves
- VCUG at 6 wks post op

Hypospadias – older children or adult

1. Leave foley in
2. Send home with leg bag x 2 as well as ‘normal’ bag for nighttime
3. DC meds
   • Bactrim SS q hs
   • Valium 5mg po qhs – decreases erections in am
   • Ditropan XL 5mg day
4. Complication risk is significantly increased – probably occurs in about 50% of patients.

Medical Management of Voiding Dysfunction

1. Timed voiding q 2 – 3 hrs if you feel like it or not
2. Void 1st thing in the morning and last thing at night
3. Drink plenty of fluids during the day – 1 oz of fluid per 2 lbs body weight in a 24 hr period, in addition to normal daily intake
4. Avoid caffeine and carbonated beverages (pop, coffee, tea, cocoa)
5. Avoid citrus fruits and juices (grapefruit, lime, orange, lemon)
6. Avoid constipation – goal is one soft stool / day
7. Support feet while sitting on toliet
8. Use brans, cereals, grains
9. Use stool softeners
10. Foods to avoid
    • Chocolate
    • Caffeine/Soda pop
    • Red dyes in foods and drinks
11. Limit dairy products to one meal only
12. Reward dryness and don’t punish wetness
13. Artificial sweeteners

Penile Size – Normal

Notes

Phimosis, from the Greek word phimos, meaning muzzle. In ancient Greece physicians deemed circumcision a superfluous procedure, set forth some questions. “Would both the diagnosis and the indication for surgical treatment of phimosis be overestimated? Would surgeons be operating on children unnecessarily?”

Drugs for neuropathic bladder

Evaluation and Management of Newborns with Myelomeningocele

1. Complete history and Physical Exam
2. Catheterization of the bladder after spontaneous voiding to check residuals. Normal bladder capacity in newborn is 10 – 20 cc’s, with acceptable residual urine vol of < 5 cc.
3. If baby not observed to spontaneously void, Crede and then check residual cath urine vol.
4. It may be necessary to perform intermittent cath if: dilated upper tracts on preliminary ultrasound or if back defect not repaired yet and Crede cannot safely be performed.
5. On 2nd or 3rd day of life – obtain renal ultrasound
6. On approximately 7th day of life – obtain urine culture and serum creatinine.
7. VCUG should be obtained during 1st – 2nd week of life.
8. Urodynamic evaluation can be scheduled at the first MM clinic evaluation.(Should be done early, since it is of great predictive value – see below)

General Points:

• Level of bony defect does not have any predictive value vis. extent of bladder innervation/function.
• 87% of newborns with MM have normal urinary tract on initial evaluation: 13% have hydronephrosis, VUR, or enlarged bladder.
• 3% infants with MM have hydronephrosis secondary to spinal shock after MM repair.
• Three urodynamic patterns are seen in newborns with MM:

1. Dyssynergy – Definition: external sphincter fails to decrease or increases its activity during a detrussor contraction or sustained increase in intravesical pressure as the bladder is filled to capacity. Bladder emptying only at high pressures, bladder is poorly complaint, intravesical pressures are high. 71% of these patients have deterioration of the urinary tract within the first 3 years of life.
2. Synergy – Definition: Sphincter activity is silenced during detrusor contraction or when capacity is reached at the end of bladder filling. Voiding pressures are normal. Only 17% of this group will deteriorate within the first 3 years of life.
3. Completely denervated – Definition: No bioelectrical potentials whatsoever in sphincter region during voiding cycle or in response to Crede maneuver. 23% of these infants will have urinary tract deterioration within the first 3 years of life.

Almost all infants whose initial urinary tract studies are abnormal have dyssenergic urodynamics.
Reflux is the most common abnormality to occur when urinary tract deterioration occurs within the first year of life.

CIC (Clean Intermittent Cath)
- Should be used liberally in newborn period, even in males. It is done 4 times/day, and nighttime caths can usually be omitted.There is an approx. 30% incidence of asymptomatic infection, but serious infection is rare.
- Overall need for ureteral reimplantation is about 10% if CIC done correctly. Crede is avoided, even with catheter in bladder, since it may cause reflux and upper tract injury.
- If urodynamics show poor bladder compliance and detrusor contractions reach pressures of 80 – 100 cm H2O, Oxybutynin HCL is given in dose of 1.0 mg per year of age, every 12 hours.
It is not at all uncommon for the urologic lesion to be altered as the child ages – dyssynergia may develop, etc. It is important to R/O tethered cord, syrinx or hydromyelia of the cord, increased ICP secondary to hydrocephalus, or partial herniation of the brainstem/cerebellum. Thus, serial neurologic evaluations are of great importance.

Intersex/DSD

Evaluation

1. Karyotype with specific X and Y probe detection (even if prenatal karyotype already done)
2. Labs (most of these can be done in 48 hours)
   • 17 OH-progesterone
   • Testosterone
   • Gonadotropin
   • Anti-Mullerian hormone
   • Serum electrolytes
   • Urinalysis
   • Radiographs
3. Abdominal-pelvic ultrasound
4. Genitogram / VCUG

Involve multidisciplinary team.

A specific diagnosis is identified in about 1/5th of infants with DSD(disorder of sexual development)