Cri Du Chat Syndrome Support Group

Gastro-oesophageal Reflux (GOR) or Reflux

Gastro-oesophageal Reflux is the medical term used to describe a condition in which stomach contents - food and gastric acid - frequently flow back up out of the stomach into the oesophagus [spelt esophagus in the US hence GER on some websites not GOR]. The food that comes up may or may not flow all the way out of the mouth. It may be forceful vomiting which rapidly and completely empties the stomach, or it can be more like a "wet burp" that doesn't reach the mouth.

The usual cause in CDC, is a Hiatus Hernia (hiatal hernia in the US), whereby a bit of the stomach bulges through the diaphragm (the muscle that separates the chest cavity from the stomach). The oesophagus is the tube that connect your mouth to your stomach when you swallow.

A rare form of hiatus hernia may be present at birth because the diaphragm or stomach have not developed properly.

  

Diagnosis

The diagnosis for a hiatus hernia is based on a person's reported symptoms. The doctor may then order tests to confirm the diagnosis. If a barium meal is ordered, the person drinks a chalky white barium solution, which will help any protrusion through the diaphragm to show up on the x ray that follows. Currently, a diagnosis of hiatus hernia is more frequently made by  endoscopy. This procedure is done by a gastroenterologist (a specialist in digestive diseases). During an endoscopy the person is given an intravenous sedative and a narrow tube is inserted through the mouth and oesophagus, into the stomach where the doctor can visualize the hernia. The procedure takes about 30 minutes and may cause some discomfort, but usually no pain. It is done on an outpatient basis.

Allopathic treatment

There are several types of medications that help to manage the symptoms of a hiatus hernia. Antacids are used to neutralize gastric acid and decrease heartburn. Drugs that reduce the amount of acid produced in the stomach (H2 blockers, H is the acid forming part) are also used. This class of drugs includes famotidine (sold under the name Pepcid), cimetidine (Tagamet), and ranitidine (Zantac). Omeprazole (Prilosec) is not an H2 blocker, but is another drug that suppresses gastric acid secretion and is used for hiatus hernias. Another option may be metoclopramide (Reglan), a drug that increases the tone of the muscle around the oesophagus and causes the stomach to empty more quickly.

Surgical treatment

The term fundoplication is composed of fundo-, referring to the fundus (the upper portion) of the stomach + -plication, an operation for reducing the size of a hollow organ (in this case, the stomach) by taking folds or tucks in its walls.
During fundoplication, the part of the stomach closest to the oesophagus is gathered, wrapped, and sutured around the lower end of the oesophagus and the lower oesophageal sphincter. This increases the pressure at the lower end of the esophagus and thereby reduces acid reflux. During fundoplication, other surgical steps frequently are taken that also may reduce acid reflux. If there is a hiatus hernia, the hernial sac may be pulled down from the chest and sutured so that it remains within the abdomen. The opening in the diaphragm  through which the oesophagus passes from the chest into the abdomen also may be tightened.
Fundoplication may be done using a large incision in a laparotomy {cut into the abdominal cavity or thoracotomy {cut into the thoracic cavity}) or with a laparospoce {keyhole surgery}that requires only several small punctures of the abdomen. The advantage of the laparoscopic method is a speedier recovery and less post-operative pain.  
A few CDC children have had this done and have been pleased with the results.

Drooling

Due to the laxity in the musculature and CDC condition, drooling is a major factor that means bibs and frequent clothes changes and smelly bed linen.
Persistent drooling in cases of cerebral palsy and CDC can be successfully controlled by a combination of bilateral parotid duct translocation and bilateral submandibular gland excision. Ten children are described who underwent this operation with satisfactory results. Apart from mild transient postoperative swelling of the cheek, there have been no postoperative complications. The importance of bilateral submandibular gland excision is stressed and the operative details are described. These include elevating a flap of buccal mucosa distally from the orifice of the parotid duct and then burying this strip beneath the buccal mucosa posteriorly to emerge in the pharynx just above the tonsillar fossa. The edges are then sutured to the mucosa of the pharynx. In time the parotid secretions pass into the pharynx via the newly created tube of mucous membrane. The technique is simple and the end result is satisfactory.

Congenital dislocating hips. CDH or Developmental Dysplaisic Hip DDH

All newborn babies have their hips checked within a few days of birth and at six weeks, because if a dislocation goes unnoticed the child will grow up with a short leg on one side, a painful limp and will suffer from arthritis later in life. So, while congenital dislocation of the hips isn't a life-threatening problem (and as a baby, he's unlikely to experience any pain), it can have long-term complications, especially if it isn't treated early.

Ball and socket

The hip is a ball-and-socket joint - that is, the end of the leg bone forms a ball shape, which rolls around in a cup-shaped socket in the pelvic bones. This allows the leg to move through a large circle at the hip. With Cri du Chat children there is a slight increased likelihood of DDH because of the decreased muscle tone which could reduce the stability.

In new babies, the cup shape of the socket may be very shallow, allowing the ball of the leg bone to slip in and out of position.

More than one in 100 newborn babies has 'unstable' hips (hips that can be dislocated by the doctor during testing), but only one in ten of these is a true dislocation that requires more intensive treatment.

Girls are affected six times more often than boys and, rather strangely, the left hip is four times more likely to be affected than the right. In a third of all cases, both hips are affected.

Possible long-term symptoms

Occasionally a dislocation is missed when babies are tested and x-rays aren't a lot of help because at this age so much of the hip joint is made of cartilage instead of bone.

If tests don't pick up the problem, the dislocation can cause symptoms when the baby starts to walk. These may include:

• ·  delayed walking
• ·  an abnormal waddling gait (the affected leg is shorter)
• ·  asymmetrical thigh creases (an extra crease on the affected side)
• ·  an inability to abduct the affected hip fully (move the leg out away from the body)

Treatments

The recommended treatment of congenital dislocation of the hips depends on the extent of the dislocation and the shape of the hip socket.

Initial treatment consists, very simply, of putting a baby in double nappies. This should keep the leg in the correct position to prevent dislocation, allowing normal growth of the cartilage of the socket.

The baby is then reassessed after three weeks. If there's still a problem, referral to a specialist orthopaedic surgeon will be needed. The specialist is likely to recommend a splint or plaster cast to hold the legs slightly open. This is kept on for three months to allow the socket of the joint to grow into the right shape.
 If  the problem hasn't sorted itself out by about six months, more complex traction and splinting may be needed, and sometimes even an operation.

Glossary

When your child is diagnosed with a hip condition you may come across some other terms which are unfamiliar to you. Here are some definitions to help you understand what you are being told at the hospital.

Abducted - to hold apart, away from the centre line, taking the thigh out sideways.
Acetabulum - the cup shaped socket on the hip bone
Bilateral - affecting both sides
Dislocated - when a joint is out of place
Dysplasia - not formed properly
Femur - thigh bone
Idiopathic - cause unknown
Oligohydramnios - lack of fluid surrounding the baby in the womb
Orthopaedics - the branch of medicine that deals with bones and joints. Doctors involved here tend to be surgeons and are addressed as 'Mr' rather than 'Dr'
Prognosis - future outcome that is expected
Tenotomy - the surgical division of a tendon
Unilateral - affecting one side

Scoliosis 

Some cri du chat children suffer with a scoliosis due to the imbalance from their muscles. A scoliosis is the sideways bend in the spine in the form of an 'S'.

Spinal curvatures occur in infants for no known reason. While some of these curvatures will go away without treatment, a number will increase rapidly to produce a severe deformity.

It is very important to find out quickly which type of curve is present. If treatment is given at the earliest possible moment, even the increasing curvatures can be helped to grow straight, permanently, thereby ensuring a normal life without deformity.

It is possible to tell which curves are likely to resolve spontaneously, and which will get worse by measuring, from an x-ray, the angles of the ribs to the vertebra at the centre of the curve. To confirm the diagnosis, the child must be re-x-rayed after two or three months