imperforate anus

What is an imperforate anus?

Imperforate anus is a congenital (present from birth) defect in which the opening to
the anus is missing or blocked. Imperforate anus may occur in several forms. The
rectum may end in a blind pouch that does not connect with the colon, or it may have
openings to the urethra, bladder, the base of penis or scrotum in boys or the vagina
in girls. There may also be stenosis (narrowing) or a complete absence of the anus.

Symptoms

• Absence of anal opening
• No passage of first stool within 24 to 48 hours after birth
• Stool passes out of the vagina, base of penis, scrotum or urethra

Diagnosis

A doctor can diagnose this condition during a physical exam. Imaging tests may be recommended to determine which structures are abnormally connected or absent and to plan for surgical repair.

Treatment

The infant should be checked for other problems, especially those affecting the genitals, urinary tract and spine. A temporary colostomy is often required. When a colostomy is performed, the large intestine is cut and brought to an opening that is made through the wall of the abdomen. This allows bowel contents to empty into a bag. Later, when the repairs to the child’s organs have healed, the colostomy is removed to allow the child to pass normal bowel movements.

Recovery

With treatment, the outcome is usually good. However, it depends on the exact type and severity of the problem. Some infants may never develop adequate bowel control.

Hirschsprung's disease

Hirschsprung's disease is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby's colon. Without these nerve cells stimulating gut muscles to help move contents through the colon, the contents can back up and cause blockages in the bowel. A newborn who has Hirschsprung's disease usually can't have a bowel movement in the days after birth. In mild cases, the condition might not be detected until later in childhood. Uncommonly, Hirschsprung's disease is first diagnosed in adults. Surgery to bypass or remove the diseased part of the colon is the treatment.

Symptoms

Signs and symptoms of Hirschsprung's disease vary with the severity of the condition. Usually signs and symptoms appear shortly after birth, but sometimes they're not apparent until later in life. Typically, the most obvious sign is a newborn's failure to have a bowel movement within 48 hours after birth. Other signs and symptoms in newborns may include:

• Swollen belly
• Vomiting, including vomiting a green or brown substance
• Constipation or gas, which might make a newborn fussy
• Diarrhea
• Delayed passage of meconium — a newborn's first bowel movement

In older children, signs and symptoms can include:

• Swollen belly
• Chronic constipation
• Gas
• Failure to thrive
• Fatigue

Tracheo-oesophageal fistula

TOF is a rare birth defect that affects a baby's oesophagus (the tube through which food passes from the mouth to the stomach). The upper part of the oesophagus doesn't connect with the lower oesophagus and stomach. It usually ends in a pouch, which means food can't reach the stomach. It often happens along with another birth defect called a tracheo-oesophageal fistula, which is a connection between the lower part of the oesophagus and the windpipe (trachea). This causes air to pass from the windpipe to the oesophagus and stomach, and stomach acid to pass into the lungs. These defects mean the baby won't be able to swallow safely, if at all. They could also develop life-threatening problems such as choking and pneumonia if not treated quickly, so surgery will usually be carried out within a few days of birth.

Diagnosing oesophageal atresia

A thin feeding tube may be passed down your baby's throat through their nose, to see if it reaches their stomach, and an X-ray may be carried out to check the oesophagus.

Repairing the defects

An operation to repair an oesophageal atresia and tracheo-oesophageal fistula is usually done soon after birth. The surgeon makes a cut on the right side of the chest, between the ribs, and closes off the abnormal connection (fistula) between the oesophagus and windpipe. They'll then sew together the upper and lower parts of the oesophagus. If the gap in the oesophagus is large, your child may need to wait a few months for the operation, to allow their oesophagus to grow a bit more. During this time, they'll need to have a feeding tube temporarily placed into their stomach through their tummy.

The diaphragm is a dome-shaped muscular barrier between the chest and abdominal cavities. It separates your heart and lungs from your abdominal organs (stomach, intestines, spleen, and liver).

A diaphragmatic hernia occurs when one or more of your abdominal organs move upward into your chest through a defect (opening) in the diaphragm. This kind of defect can be present at birth or acquired later in life. It’s always a medical emergency and requires prompt surgery to correct.

What are the causes of a diaphragmatic hernia?

A congenital diaphragmatic hernia (CDH) is due to the abnormal development of the diaphragm while the fetus is forming. A defect in the diaphragm of the fetus allows one or more of their abdominal organs to move into the chest and occupy the space where their lungs should be. As a result, the lungs can’t develop properly. In the majority of cases, this affects only one lung.
An acquired diaphragmatic hernia (ADH) is usually the result of a blunt or penetrating injury. Traffic accidents and falls cause the majority of blunt injuries. Penetrating injuries are usually due to stab or gunshot wounds. Surgery on the abdomen or chest may also cause accidental damage to your diaphragm. Rarely, the diaphragmatic hernia may occur without a known reason and go undiagnosed for a period of time, until it becomes severe enough to cause symptoms.

Hypospadias is a birth defect (congenital condition) in which the opening of the urethra is on the underside of the penis instead of at the tip. The urethra is the tube through which urine drains from your bladder and exits your body. Hypospadias is common and doesn't cause difficulty in caring for your infant. Surgery usually restores the normal appearance of your child's penis. With successful treatment of hypospadias, most males can have normal urination and reproduction. In hypospadias, the opening of the urethra is located on the underside of the penis instead of at the tip. In most cases, the opening of the urethra is within the head of the penis. Less often, the opening is at the middle or the base of the penis. Rarely, the opening is in or beneath the scrotum.

An inguinal hernia happens near the groin area, between the belly and the thigh. With boys, you can often see a swelling in the scrotum. Does this mean girls are off the hook? Not exactly. Although girls don't have testicles, they do have an inguinal canal and can get hernias, too.
About 3-5% of healthy, full-term babies are born with an inguinal hernia. In premature infants, the incidence is substantially increased―up to 30%!
If an inguinal hernia is not treated, it can cause serious problems.

Overview

An undescended testicle (cryptorchidism) is a testicle that hasn't moved into its proper position in the bag of skin hanging below the penis (scrotum) before birth. Usually just one testicle is affected, but about 10 percent of the time both testicles are undescended.

An undescended testicle is uncommon in general, but common among baby boys born prematurely.

The vast majority of the time, the undescended testicle moves into the proper position on its own, within the first few months of life. If your son has an undescended testicle that doesn't correct itself, surgery can relocate the testicle into the scrotum.

Symptoms

Not seeing or feeling a testicle where you would expect it to be in the scrotum is the main sign of an undescended testicle.

Testicles form in the abdomen during fetal development. During the last couple of months of normal fetal development, the testicles gradually descend from the abdomen through a tube-like passageway in the groin (inguinal canal) into the scrotum. With an undescended testicle, that process stops or is delayed.

When to see a doctor

An undescended testicle is typically detected when your baby is examined shortly after birth. If your son has an undescended testicle, ask the doctor how often your son will need to be examined. If the testicle hasn't moved into the scrotum by the time your son is 4 months old, the problem probably won't correct itself.

Treating an undescended testicle when your son is still a baby might lower the risk of complications later in life, such as infertility and testicular cancer.

What are posterior urethral valves?

Posterior urethral valves (PUV) are obstructive membranes that develop in the urethra (tube that drains urine from the bladder), close to the bladder. The valve can obstruct or block the outflow of urine through the urethra. When this occurs, the bladder, ureters and kidneys become progressively dilated, which can lead to damage.

Surgical treatment

Treatment for PUV depends on the severity of the condition, your child’s age, bladder and kidney status. The surgical goal is to preserve kidney and bladder function. • Valve ablation: Once PUV are identified, they need to be surgically incised. During valve ablation, the urologist will insert a cystoscope, a small device with a light and a camera lens at the end. He will use this instrument to make incisions in the valves so they collapse and no longer obstruct the urethra. • Vesicostomy: In a situation where your baby is too small to undergo valve ablation or when a severe obstruction is noted, a vesicostomy may be recommended. A vesicostomy provides an opening to the bladder, so that urine drains freely from the lower abdominal opening. During surgery, a small part of the bladder wall is turned inside out and sewn to the abdomen. It looks like a small slit, surrounded by pink tissue. The vesicostomy is a temporary option and can be closed in the future.

PUJ obstruction is most often a congenital condition, occurring in 1 in 1500 births. It tends to affect the left kidney more than the right, but in 10% of cases it affects both kidneys.9   pelviureteric junction (PUJ) obstruction is most commonly due to a narrowing in the part of the ureter which drains urine from the kidney, causing a build-up of urine which then increases the pressure within the kidney - with the potential to cause damage.

PUJ obstruction is most often a congenital condition, occurring in 1 in 1500 births. It tends to affect the left kidney more than the right, but in 10% of cases it affects both kidneys.

How is PUJ obstruction diagnosed?

In most cases, PUJ obstruction is diagnosed before birth, because it causes a dilatation in the urinary tract, which can be seen on prenatal scans. However, it is possible to get a PUJ obstruction later in childhood or even in adulthood, in which case symptoms can include a sharp flank pain accompanied by nausea and vomiting; urinary tract infections; or swelling in the abdomen.

To make a diagnosis, a radiologist will carry out an ultrasound scan of the kidneys and bladder. If your child has a PUJ obstruction, the ultrasound usually shows a swelling, or dilatation, of the kidney, and in some cases a thinning in the outermost layer of the kidney which is being compressed by the increased pressure.

The next stage is to carry out a DTPA scan, which is a more specific test to assess the function and drainage of the affected kidney.

How is PUJ obstruction treated?

PUJ obstruction is not always treated in the first instance, because the obstruction may not be significant enough to cause kidney damage or symptoms. Your child will be monitored on a regular basis with ultrasound and the option of a repeat DTPA, and in the case of a child with severe dilation, antibiotics may be prescribed.

In some cases, the obstruction can resolve on its own and this will be clear on the ultrasound scans.

Surgery is generally recommended:

• In the presence of symptoms such as pain, haematuria, or infection
• where there is a deterioration in kidney function
• where there is progression of the kidney dilatation

PUJ obstruction is treated by means of a procedure called  pyeloplasty. The procedure can be performed with an open incision or via laparoscopy.

What is the Laparoscopic or Key Hole Surgery? 

It is the surgery performed by using the latest technology where instead of big cut on belly or chest, the surgery is performed using small cuts popularly known as the Key Hole Surgery.

What are the advantages of Key Hole Surgery in Children?

1. Less pain.
2. Early recovery.
3. Good aesthetic healing.
4. Decreased hospitalization.
5. Early return to school and work.

Is there any difference between Key Hole surgery in children and adults?

1. Many surgical conditions in children are different than adults.
2. The laparoscopic equipment in children consists of smaller length and diameter.
3. In children, the abdominal space to work is less and needs a surgeon experienced in  paediatric laparoscopic surgery.

In which conditions the Key Hole Surgery can be performed in Children?

Key Hole surgery can be performed in most of the surgical conditions. The list of the surgeries which can be performed using this technique is as follows.

Indications of Laparoscopic Surgery

• Repair of Inguinal hernia

• Orchidopexy (Non-Palpable Undescended Testis)

• Diagnostic laparoscopy in
  
  1. chronic abdominal pain
  2. bleeding in stool
  3. intersex disorders
  4. non-palpable undescended testis
  5. Ascites due to unknown ethology

• Appendicectomy

• Single or multi-stage Laparoscopic Surgery for Hirschsprung’s disease

• Laparoscopic pull-through for Imperforate anus

• Nissen Fundoplication

• Removal of gall bladder

• Removal of spleen and kidney

• Excision of cysts in the abdomen

• Surgery for Achalasia Cardia

• Surgery for Malrotation of small bowel

• Surgery for Meckel’s diverticulum

• Abdominal lymph node biopsy

• Nephrectomy, Nephroureterectomy

• Pyeloplasty, Pyelo & Ureterolithotomy

• Ovarian surgery