Cleft lip and palate

The gastro-intestinal tract starts at the lips and so cleft lip and palate, the former often called hair lip, is a good place to start. About 30% of such cases are part of syndromes with other abnormalities. It is one of the commonest abnormalities with a worldwide incidence as high as 1 in 700. Cleft palate alone is about 1 in 2,000. Taking certain anticonvulsants, benzodiazepines and steroids in pregnancy increases the risk. The appearance may inhibit maternal bonding. There may be difficulties in feeding and with speech but generally the results of surgical treatment are extremely good.

Oesophageal atresia

Oesophageal atresia occurs between 1 in 3,500 and 1 in 5,000 births. If a sibling has had the condition that incidence is 1 in 50. It is 6 times as common in twins as singletons. It is commoner in the trisomy disorders of Down's syndrome, Pateau's syndrome and Edwards' syndrome. About half have other congenital abnormalities too, usually of urogenital, cardiovascular or colo-rectal systems. Hence there would seem to be some genetic component involved but its contribution is unclear.

Around 85% have a distal tracheo-oesophageal fistula. Around 10% have no fistula and the remainder are a mixture of proximal fistula, more than 1 fistula and fistula without atresia. Feeding can lead to aspiration and early surgical repair is essential for survival.

Exomphalos and gastroschisis

Exomphalos and gastroschisis occur in about 1 birth in 3,000. There is a deficiency of the abdominal wall and contents can herniate into this space. Prune belly syndrome is a rare condition in which about 97% are boys. There is deficiency of the abdominal wall and cryptorchidism, hydronephrosis and possibly pulmonary hypoplasia but the gut is usually intact.

Congenital diaphragmatic hernia

Congenital diaphragmatic hernia permits the stomach to ascend in part into the thoracic cavity. This may occur with deficiency of the diaphragm. As well as causing trouble with feeding, if it is gross, the stomach will impinge on the structures in the chest and cause embarrassment to breathing and circulation. Early surgical repair is required.

Hypertrophic pyloric stenosis

Hypertrophic pyloric stenosis is sometimes called congenital pyloric stenosis but this is a misnomer as it is not present at birth but it does develop soon after. It is more common in boys and more common in first born children. Incidence is 2 to 4 per 1,000. The symptoms are due to failure of gastric emptying so that feeding is followed by projectile vomiting in which the vomit may be propelled for a considerable distance. It is another condition that was described by Hirschsprung in 1888 and in 1907 Ramstedt described the operation that still bears his name. Vomiting tends to start between 2 and 8 weeks after birth. There is failure to gain weight and the projectile vomiting is characteristic although parents often use the term inappropriately. Projectile vomit has no bile in it and it can easily cross a room. Test feeding is often used. After a feed the enlarged pylorus may well be palpable. Ultrasound is also useful. The condition tends to resolve spontaneously if it can be managed until about 15 weeks of age. This tends to be those of later onset. Otherwise, Ramstedt's operation is required. This involved longitudinal incision of the pyloric sphincter down to the mucosa. An inadequate depth will be ineffective but too far will perforate the gut.

Intestinal atresia, stenosis and webs

These can occur at any level but the commonest place for atresia, after the oesophagus, is the duodenum. The incidence of duodenal atresia is between 1 in 10,000 and 1 in 30,000 births. Around a third to a half have other abnormalities too. About 30% have Down's syndrome and the same number cardiovascular defects. Antenatal detection by ultrasound is often possible. Presentation is persistent vomiting, often bilious, within hours of birth although sometimes it my take a couple of days to develop. Lower lesions take longer to develop symptoms. X-ray will show fewer air levels than expected. Colonic atresia may also occur. It takes longer to develop and air levels are more normal. A barium enema may show a small colon, suggestive of a distal small-bowel obstruction. It is also capable of demonstrating other causes of lower obstruction, such as Hirschsprung's disease or a meconium plug.

The enema may also enter the small bowel and help demonstrate the level of a distal obstruction.

Surgical correction is required but resuscitation and correction of dehydration must precede surgery. The order or priorities may depend upon other abnormalities. Combined oesophageal and duodenal atresia makes the situation much more complicated.

Volvulus and midgut rotation

This may present in the first week of life but usually in the first year. Symptoms are bilious vomiting and intestinal obstruction although in older children it may be simply recurrent abdominal pain and colic. Plain abdominal x-ray shows the double bubble of duodenal obstruction. There may be other features of intestinal obstruction. Enema may show malposition of the colon. Ultrasound and CT may also be of value. Management is surgical correction.

Meckel's diverticulum

Meckel's diverticulum is a vestigial remnant of the vitellointestinal duct and is present in 1.5% of the population although it does not always cause problems. Around half may contain heterotopic tissue, usually gastric mucosa. It can produce massive rectal bleeding in a child. It can also cause volvulus, intussusception and resemble acute appendicitis. If it causes problems it can be surgically resected.

Hirschsprung's disease

Hirschsprung's disease is caused by failure of development of the neural ganglia in the myenteric and submucosal plexus of the rectum. The incidence is around 1 in 5,000 births with boys affected 4 times as often as girls. Delayed passage of meconium is a crucial feature as nearly half of all infants with Hirschsprung's disease do not pass meconium within 36 hours, and nearly half of infants with delayed first passage of meconium have Hirschsprung's disease. The affected segment of bowel is of normal calibre whilst the bowel proximal to it is dilated. A defunctioning colostomy may be required to permit return to normal of the dilated bowel and then the aganglionic segment must be resected. It is associated with a number of other conditions but especially Downs' syndrome.

Imperforate anus

Minor abnormalities of the anus or rectum occur in about 1 birth in every 500 but major abnormalities are around 1 in 5,000. Associated abnormalities of the small intestine, oesophagus, genito-urinary system, cardiovascular system and sacral area may also occur. Failure to pass meconium in the first 24 hours of life should lead to examination of the rectum. Milder lesions may cause constipation later on. If there is an adequate amount of gas in the bowel, a plain x-ray will usually suffice for diagnosis. CT or ultrasound is not usually required. Preoperative resuscitation is required. The nature of surgery depends upon the precise lesion and other possible complications. Meticulous management gets good results. The importance of accurate diagnosis before surgery is illustrated by a review of management of patients with newborn cloacas.

Hypertrophic Pyloric Stenosis

Synonyms: congenital hypertrophic pyloric stenosis, infantile hypertrophic pyloric stenosis

Diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus, usually occurring in infants 2-8 weeks of age. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed.

Epidemiology Occurs in 1 in 500 live births.

More common in males than in females, with reported ratios ranging from 2:1 to 5:1.

First-born male children are believed to have the highest risk.

Hypertrophic pyloric stenosis occurs very rarely in adults and must then be differentiated from gastric cancer.

Presentation Typical presentation is onset of vomiting at 2-8 weeks old but late presentation up to 6 months can

occur. Vomiting increases in frequency over several days. Vomiting also increases in intensity until it becomes projectile. Slight haematemesis may occur.

Persistent hunger, weight loss, dehydration, lethargy, infrequent or absent bowel movements.

Look for signs and degree of dehydration.

Stomach wall peristalsis may be visible.

An enlarged pylorus, classically described as an "olive", can usually be palpated in the right upper quadrant or epigastrium of the abdomen:

o With the infant supine and the examiner on the child's left side, gently palpate the liver edge near the xiphoid process.

o Then displace the liver superiorly; downward palpation should reveal the pyloric olive just on or to the right of the midline.

o It should be possible to roll the pylorus beneath the examining finger.

Differential diagnosis Feeding problem or milk intolerance

Gastro-oesophageal reflux

Gastroenteritis

Duodenal atresia, oesophageal atresia or other bowel obstruction in the newborn

Intestinal malrotation

Acute midgut volvulus

Investigations Serum electrolytes for correction of electrolyte imbalances before surgical repair: there is often

metabolic alkalosis with severe potassium depletion.

Ultrasound is reliable and easily performed and has become the main investigation. Imaging is not required if an experienced examiner is able to palpate an 'olive'.

Although ultrasound is most often performed, one study found upper gastrointestinal barium series to be more cost-effective than ultrasound because fewer secondary studies were required.

A further advantage of a barium study is that it can identify other possible diagnoses such as gastro-oesophageal reflux.

Management Preoperative management is directed at correcting the fluid deficiency and electrolyte imbalance.

Ramstedt pyloromyotomy is easily performed and is associated with minimal complications.

Laparoscopic pyloromyotomy is also performed and is an effective alternative.

Complications Vomiting can lead to dehydration, weight loss, and severe electrolyte disturbance with hypokalaemic,

hypochloraemic metabolic alkalosis.

Operative complications include mucosal perforation, continued postoperative bleeding (very rare), and persistent vomiting due to incomplete pyloromyotomy (rare).

Prognosis Prognosis is excellent unless diagnosis is delayed and prolonged severe dehydration occurs.

Mortality is rare after pyloromyotomy.

Oesophageal Atresia

Oesophageal atresia (OA) is a congenital abnormality in which there is a blind ending oesophagus. It can occur in isolation or there may be one or more fistulae communicating between the abnormal oesophagus and the trachea, known as a tracheo-oesophageal fistula (TOF). The exact aetiology is uncertain but there appears to be a defect in embryological development. Various hypotheses have been put forward suggesting possible genetic causation and teratogenic influences. More research is needed.

Epidemiology The estimated incidence is 1 in 3000 births.

Finland has a comparatively high figure of 1 in 2,500 births.

The recurrence risk in subsequent pregnancies of OA-TOF that is not part of a syndrome of problems is < 1%.

Associations

In more than 50% of babies, OA is present with other anomalies. Associated anomalies are more likely if there is isolated OA and in such cases can occur in up to 65%. They include:

The VACTERL syndrome - the presence of 3 or more of:

o Vertebral defects: including single or multiple hemivertebrae, scoliosis or rib deformities

o Anorectal malformations: including imperforate anus and cloacal deformities

o Cardiovascular defects: ventricular septal defects (most common), Fallot's tetralogy, patent ductus arteriosus, atrial septal defects, aortic coarctation, right-sided aortic arch, single umbilical artery, and others

o Tracheo-oesophageal defects: oesophageal atresia with or without tracheo-oesophageal fistula

o Renal abnormalities: including renal agenesis, horseshoe kidney, polycystic kidneys, urethral atresia and ureteral malformations

o Limb deformities: including radial dysplasia, absent radius, radial-ray deformities, syndactyly, polydactyly, lower-limb tibial deformities

The CHARGE association

o Coloboma

o Heart defects

o Atresia choanae

o Retarded development

o Genital hypoplasia

o Ear abnormalities

Chromosomal abnormalities

o Trisomy 13 , 18 and 21

Other associations

o DiGeorge syndrome

o Neurological defects including neural tube defects and hydrocephalus

o Gastrointestinal defects including duodenal atresia, omphalocele and Meckel diverticulum

o Pulmonary defects including diaphragmatic hernia and pulmonary agenesis

o Genitalia defects including hypospadias and undescended testes

Of those with associated anomalies, 35% have cardiovascular defects, 20% genitourinary and 20% gastrointestinal.

Classification

This is not universal. One classification system is:

Type A - oesophageal atresia without fistula (10% of cases)

Type B - oesophageal atresia with a proximal TOF (≤1% of cases)

Type C - oesophageal atresia with a distal TOF (85% of cases)

Type D - oesophageal atresia with both proximal and distal TOF (<1% of cases)

Type E - is called a H-Type fistula; no oesophageal atresia but there is a TOF (4% of cases)

Type F - congenital oesophageal stenosis (<1% of cases)

Presentation

Antenatally Diagnosis may be suspected antenatally because of polyhydramnios and an absent fetal stomach

bubble detected on ultrasound.

The prenatal detection rate using ultrasound if there are no other associated abnormalities was around 45% in one study. However, it does not allow for a definite diagnosis of OA/TOF.

Associated ultrasound abnormalities may be present such as cardiac defects.

The fetus is usually small for gestational age.

Premature labour can occur.

Karyotyping should be carried out if suspected because of the high association with trisomy 18.

Postnatally A baby with OA ± TOF classically presents with respiratory distress, choking, feeding difficulties

and frothing in the first few hours after birth.

Swallowing cannot occur due to the lack of patency of the oesophagus.

Passing of a nasogastric tube is not possible.

There is an overflow of saliva and aspiration can occur. If there is a TOF present, saliva ± gastric secretions can pass directly to the bronchial tree.

H-type fistulae usually present later in infancy as there is no 'blind end' to the oesophagus and the child is able to feed. Children usually present with a recurrent cough on feeding or recurrent chest infections.

Oesophageal atresia ± TOF should be considered whenever a baby develops feeding and respiratory difficulties in the first few days of life.

Investigations Chest X-ray: this can show the heart size and shadow, any vertebral and rib abnormalities and can be

used to assess the lung fields. The presence of air below the diaphragm should be assessed. If there is no air seen in the gastrointestinal tract, it is likely that there is isolated OA with no TOF. Air can also be injected to distend the upper oesophageal pouch prior to X-ray so that the blind ending pouch may be seen. If attempt has been made to pass a nasogastric tube, it can be seen curling up in the upper oesophageal pouch.

Imaging of the renal tract: this is important to assess any problems of the urogenital tract.

Echocardiography: can assess the heart.

Limb X-rays: if limbs appear abnormal then x-ray is required.

Ultrasound examination of the spine: can assess possible tethering of the spinal cord.

A 'gap-o-gram' may be necessary to assess the distance between the proximal and distal parts of the oesophagus.

Management A multidisciplinary approach involving surgeons, physiotherapists, respiratory physicians, dieticians

and speech therapists is best.

If suspected antenatally, all babies with OA ± TOF should be delivered somewhere with ready access to a paediatric surgical unit.

The basis of management is surgery to correct the anatomical abnormality.

Surgery is carried out either immediately, as a delayed repair or as a staged repair depending on other factors such as birth weight and other associated conditions (principally cardiac abnormalities).

Various prognostic classification systems are in use which help to determine when surgery should be performed. The Spitz classification is:7

o Group I - birth weight > 1500g, no major cardiac disease

o Group II - birth weight < 1500g or major cardiac disease

o Group III - birth weight < 1500g plus major cardiac disease

It may be necessary to assess and manage other congenital anomalies as well.

Until surgery, supportive treatment is needed to allow hydration/feeding and prevent aspiration.

A Replogle tube is passed through the nose into the proximal oesophageal pouch to provide drainage.

OA with TOF Pre-operative bronchoscopy can be helpful in identifying and locating fistulae.

An open thoracotomy is usually performed, the fistula is tied off and an oesophageal anastomosis is created between the disconnected upper and lower oesophageal segments.

Sometimes, the gap between the segments can be long (a so-called 'long-gap') and various procedures have been developed to deal with this. The Foker technique for long-gap oesophageal atresia has been approved by NICE. It involves applying traction sutures to the oesophageal ends to stimulate a degree of elongation each day and eventually allow primary anastomosis.

Other procedures have been developed for long-gap OA including pulling the stomach partially up into the thorax, or using colon to join the oesophageal ends. However, the 'native' oesophagus approach is preferred.

Minimally invasive surgical techniques have also been developed.

Isolated OA Immediate management involves a gastrostomy so that feeding is possible. Suctioning of the blind

ending oesophagus is necessary to prevent aspiration and protect the airway. This should continue until surgery is performed. Prophylactic antibiotics may also be needed.

Definitive treatment involves either creating an anastomosis between the native oesophagus segments (as described above) or using colon or stomach to enable the repair. 'Long-gap' procedures may be necessary.

H-type fistula Surgery is usually performed via the neck and the fistula is divided and repaired. There is a risk of

recurrent laryngeal nerve injury.

Laser repair has also been used.

Complications

Early complications include:

Leakage of the anastomosis

Recurrent TOF

Anastomotic stricture (may require dilatation and a few may need resection of the stricture)

Feeding problems and poor weight gain

Later complications include:

Respiratory complications

o Severe tracheomalacia and bronchomalacia occur in 20%.Airway collapse can cause life-threatening obstruction.

o Tracheomalacia can lead to a 'TOF cough' (a harsh barking cough)

o Recurrent chest infections can lead to bronchiectasis and irreversible lung damage

o Respiratory morbidity tends to improve as the child ages.

o Management includes the use of antibiotics, physiotherapy and treatment of gastro-oesophageal reflux to minimise aspiration. Bronchodilators and inhaled steroids may be needed.1

Gastro-oesophageal complications

o Gastro-oesophageal reflux is very common. This can contribute to stricture formation, respiratory problems and can lead to oesophagitis.

o Management is using feed thickeners, H2 blockers, proton pump inhibitors and prokinetic drugs.1 Investigation and anti-reflux surgery is needed in some.

o Reflux symptoms usually improve with age.

o The potential risk of Barrett's oesophagus with subsequent oesophageal carcinoma means that some suggest long-term monitoring

o Oesophageal dysmotility can be seen on manometry. It can lead to problems with swallowing and choking.

Other complications

o There may be other complications depending on any associated anomalies.

Prognosis Depends on associated anomalies and their complications.

Overall survival now exceeds 90% in dedicated centres.

Associated congenital heart defects and low birth weight can affect survival.

Using the Spitz prognostic classification, in those with a birthweight > 1500g and no major cardiac lesion, survival is approximately 97%. If there is a severe cardiac defect combined with birth weight < 1500g, survival is only 22%.

Catch-up growth normally occurs after successful treatment

Early mortality is usually due to cardiac and chromosomal abnormalities.

Late mortality is usually due to respiratory complications.

Coeliac Disease Coeliac disease is a condition of the small

intestine (the gut). It can occur at any age. The small intestine is where food is absorbed. Coeliac disease is caused by a reaction of the gut to gluten. Gluten is part of certain foods - mainly foods made from wheat, barley and rye. The reaction to gluten causes inflammation in the lining of the gut. This stops the gut from working properly and absorbing foods properly. Various symptoms can develop including abdominal pains, tiredness and weight loss. Symptoms go if you do not eat any foods that contain gluten. Treatment is for life. That is, you should not eat any foods that contain gluten for the rest of your life.

What is coeliac disease and who does it affect?

Coeliac disease is a condition that causes inflammation in the lining of the small intestine (the gut). It affects about 1 in 100 people in the UK. Anyone, at any age, can develop coeliac disease. It is a condition that used to be associated with young children. However, it is now much more common in adults than children. The average age of diagnosis is about 45 years old. About 1 in 4 cases are now first diagnosed in people over the age of 60. There is often a family history. About 1 in 10 close relatives of someone with coeliac disease will also develop it. That is - brother, sister, parent, or child.

What causes coeliac disease?

The cause is a sensitivity to gluten. Gluten occurs in common foods including wheat, barley, and rye, and any foods made from these such as bread, pasta and biscuits. People with coeliac disease make antibodies against gluten. Antibodies are proteins in the immune system that normally attack bacteria, viruses, and other 'germs'. In effect, the gut 'mistakes' gluten to be harmful, and reacts against it as if it were fighting off a germ.

Because of the antibody 'attack' against gluten, inflammation develops in the lining of the gut. This stops the lining of the gut working properly. The cells that normally absorb food into the bloodstream do not work so well.

Coeliac disease can develop in babies. Older children or adults who have not previously had problems may also become 'gluten sensitive' at some point in their life and develop coeliac disease. It is not known why the immune system of some people becomes sensitised to gluten.

What are the symptoms of coeliac disease?

The inflammation in the lining of the gut stops food from being properly absorbed. You then do not absorb nutrients very well into your body. A variety of symptoms may then develop.

BabiesSymptoms first develop soon after weaning when the baby starts eating solid foods containing gluten. The baby may fail to gain weight and become miserable. As food is not being absorbed properly, the faeces (stools) may be pale and bulky. Smelly diarrhoea may occur. The abdomen (tummy) may become swollen. The baby may have repeated vomiting.

Older childrenPoor absorption of food may cause deficiencies of vitamins, iron, and other nutrients. This may cause anaemia and other problems. As the fat part of the diet is poorly absorbed, the faeces may be pale, smelly, and difficult to flush away. Diarrhoea may develop. However, the symptoms may not be very typical or obvious. If the gut and bowel symptoms are only mild then the first thing that may be noticed is poor growth.

AdultsPoor absorption of food may cause deficiencies of vitamins, iron, and other nutrients. Anaemia due to poor absorption of iron is common. Other common symptoms include: abdominal pains which tend to 'come and go', excess wind, bloating, diarrhoea, and tiredness or weakness. Mouth ulcers may occur. You may lose weight due to poor absorption of food. An itchy skin condition called dermatitis herpetiformis occurs in some people with coeliac disease.

If the common symptoms described above develop, the diagnosis may be made quickly. However, common or typical symptoms do not always develop. Particularly in adults, the areas affected in the gut may be patchy. Symptoms may then be mild, or not typical, and it may be a while before the diagnosis is made.

How is the diagnosis confirmed?

If coeliac disease is suspected, a blood test to detect a certain antibody that occurs in coeliac disease may be advised by your doctor. If it is present the diagnosis of coeliac disease is likely. To confirm the diagnosis, a biopsy (small sample) is taken from the inside lining of the gut. This is looked at with a microscope to see if the typical changes of coeliac disease are present. The biopsy is usually taken by a flexible tube (endoscope) which is passed into the small intestine.

Other tests may be done to find out how much the poor absorption of food and other nutrients has affected you. For example, checks may be made for anaemia and for the levels of vitamins, iron, protein, etc, in the blood. You may be advised to have a special bone scan (a DEXA scan) to see if your bones have become affected due to poor absorption of calcium and vitamin D.

Note: if you suspect that you may have coeliac disease from your symptoms, then see a doctor. Do not treat yourself by going on a gluten free diet (described below) without a firm confirmed diagnosis. If you do go on a gluten free diet before the diagnosis is confirmed, then any tests done at a later time may not be conclusive and may even give negative results. So, get it checked out first - and then treat it if it is confirmed.

What are the treatments for coeliac disease?

You must not eat any foods that contain gluten - for the rest of your lifeThe main treatment is not to eat any food that contains gluten. The symptoms then usually go within a few weeks. The main foods to stop are any that contain wheat, barley, or rye. Many common foods contain these ingredients such as breads, pasta, cakes, pastries and some cereals. Foods made from oats are usually safe to eat. However, many people with coeliac disease have symptoms if they eat oats. This is probably because of contamination of commercially available oats with other grains. Potatoes, rice,

maize, corn, fruit, dairy products and soya-based foods are fine.

You should get advice from a dietician. Coeliac UK also provides advice about which foods are suitable (see address below). You can buy special gluten-free flour, pasta, bread, etc. These are also available on prescription. There are many diet sheets with food alternatives and recipes. Unfortunately, many processed foods, ready-made meals, and 'fast-foods' contain gluten. Food labels will often say whether the food contains gluten or not.

Avoiding gluten is for life. If you eat gluten again, symptoms will return. Even small amounts of gluten can sensitise the gut again. To avoid symptoms and complications (see below), you must be strict about avoiding all foods with gluten.

You may have to accept some restriction on lifestyle. However, the many foods that are allowed are varied and interesting.

Other treatmentsIn addition to avoiding gluten:

You may be advised to take some vitamin, calcium and iron supplements at least for the first six months following diagnosis. This is to replace any deficiencies, and to make sure you get enough of these whilst the gut lining is returning to normal.

You may be advised to have certain Immunisations. This is because some people with coeliac disease also have a poorly functioning spleen. This makes you more prone to infection from certain germs. The immunisations likely to be advised are to protect against:

o The pneumococcus bacterium. o Haemophilus influenzae type b (the HIB vaccine) o The influenza virus (the annual 'flu jab').

Are there any complications?

Untreated coeliac diseaseApart from the symptoms listed above, people with coeliac disease have an increased risk of the following:

Developing osteoporosis ('thinning of the bones') due to the nutritional deficiencies which occur with coeliac disease.

Developing cancer of the gut in later life. However, there is conflicting research on this subject. Some research studies have failed to show any increased risk, whilst other studies have shown a small increased risk of developing a gut cancer. If you notice bloody or black faeces (stools), lose weight, or develop abdominal pains or persistent diarrhoea, tell your doctor.

Developing an ulcer of the small intestine which may bleed (but this is rare). Developing other immune related diseases (autoimmune diseases) such as Type 1 diabetes, an

underactive thyroid, Sjoögren's syndrome and primary biliary cirrhosis. Having a baby with low birth weight and with spina bifida if you become pregnant.

A common mistake is to eat small amounts of food which contain gluten. This may be unintentional. However, some people wrongly think that 'a small amount won't matter'. It does. A well known example is thinking that the small amount of bread in a communion wafer will not matter. Even this small amount of gluten is sufficient to cause symptoms, and maintain the increased risks associated with coeliac disease detailed above.

Some people with coeliac disease may not realise they are taking small amounts of gluten. They may feel well, or ignore mild symptoms such as bloating or mild diarrhoea. Again, the increased risks (osteoporosis, etc) still remain if any gluten is eaten.

So, in short, it is vital to completely avoid gluten to remain symptom free, and to eliminate the increased risk of developing other serious problems.

Treated coeliac disease - that is, eating no gluten at all

If you have coeliac disease but do not eat any gluten, you can expect to be free of symptoms and to have a normal healthy life span. The increased risk of developing other autoimmune disorders reduces. After 1-5 years of gluten free diet, there is probably no increased risk of gut cancer and your life expectancy is the same as the general population.

Follow up

Once you have been diagnosed with coeliac disease, you should have regular follow up appointments. This may be after three and six months to ensure that you are making satisfactory progress and managing your gluten-free diet. Thereafter, an annual review (often by your GP) is common, and sooner if problems arise.

There are various reasons why an annual review is useful. For example, to review your diet as some people find it difficult to maintain a fully gluten free diet. Some people do not realise that they may be eating small amounts of gluten (say, for example, processed foods that are contaminated with small traces of gluten containing products). So, for example, an annual blood test can assess if you still have any antibodies against gluten. Also, a blood test to check for anaemia and other indicators of poor food absorbtion is useful. A review of symptoms is also useful to check if you have developed any associated diseases or complications. Depending on your age and other factors, you may be monitored to see if you have developed osteoporosis.

So, in summary. You can expect to live a life free of the symptoms of coeliac disease if you totally avoid gluten. But, and annual review with a doctor is useful to monitor your progress and health.

Volvulus and Midgut Malrotations

Description

A volvulus is a complete twisting of a loop of intestine around its mesenteric attachment site. This can occur at various locations of the GI tract, including stomach, small intestine, caecum, transverse colon, and sigmoid colon. Midgut malrotation refers to twisting of the entire midgut about the axis of the superior mesenteric artery (SMA).

A knowledge of embryology is necessary to understand the mechanisms that lead to the development of volvulus and malrotation. At the fourth week of gestation, the gastrointestinal system is a straight tube centrally located in the abdomen. During the ensuing 8 weeks, the midgut rotates and becomes fixed to the posterior abdominal wall. Arrest of development at any stage narrows the mesenteric base and impairs fixation, leaving the bowel at high risk for volvulus.

Epidemiology

Nonrotation occurs in approximately 1 in 500 live births. However, the true incidence of malrotation is unknown, since many asymptomatic patients fail to present. Either sex can be affected with the anomaly. In approximately 60% of patients, malrotation presents by age 1 month. Another 20-30% of patients present at age 1-12 months. Thereafter, it can present at any age, and is seen in adults and even the elderly.

Presentation

It should be remembered that malrotation and volvulus are two distinct entities. Nonrotation may be asymptomatic and be detected as an incidental finding during gastrointestinal imaging for some other purpose. Malrotation may cause intermittent symptoms of intestinal obstruction, but if a volvulus develops, the obstruction is typically complete. The presenting features will also vary, depending on age.

Bilious vomiting is the key presenting symptom. A child presenting with green or yellow vomiting should be presumed to have volvulus until proved otherwise. Infants presenting in the first 24 hours after birth through the first week of life tend to have more severe obstruction, and present with bilious vomiting and feeding intolerance. After the age of 2

months, bilious and nonbilious vomiting occur with equal frequency. Other symptoms may include failure to thrive, anorexia, constipation, bloody stools, and intermittent apnoea.

Older children may present more insidiously with cyclical vomiting, recurrent abdominal pain, protein-calorie malnutrition and immunodeficiency.7 Once intestinal ischaemia develops, pain becomes the most pronounced symptom.

Rarely, volvulus can occur in utero and even more rarely can lead to intra-uterine death. Abdominal examination may be normal in the early stages, or may show distension.

Intestinal malrotation can be a rare cause of chronic abdominal pain in adults. The diagnosis is often missed initially, leading to increased morbidity.

Careful examination may reveal a palpable abdominal mass in some patients. If ischaemia develops, the presentation is of acute abdomen, with significant abdominal distension, and signs of peritonitis. Blood or sloughed tissue may pass per rectum. Tachycardia, hypovolaemia and septic shock herald the onset of gangrene.

Differential diagnosis

In the acute phase, the differential diagnosis is of acute abdomen/obstruction. Chronic vague abdominal symptoms in older children or adults raise the possibility of a wide range of other symptoms, which should include:

Annular pancreas

Appendicitis

Cholecystitis

Colic

Constipation

Duodenal atresia

Duodenal web

Gastroenteritis

Gastroesophageal reflux

Henoch-Schöenlein purpura

Hepatitis B

Hirschsprung disease

Hypertrophic pyloric stenosis

Incarcerated hernia

Intussusception

Meckel diverticulum

Necrotising enterocolitis

Ovarian torsion

Pancreatitis

Peptic ulcer

Perforated viscus

Renal stones

Sickle cell crisis

Urinary tract infection

Investigations

Laboratory investigations

The diagnosis is usually made clinically, and management should not be delayed in order to obtain the results of laboratory tests.7 A full blood count helps to assess the severity of the illness, a raised white cell count may be found in sepsis or gangrene and a low haemoglobin may suggest venous oozing. Regular urea and electrolytes monitoring

may help to assess the patient's general condition and detect dehydration, sepsis and acidosis. Large amounts of fluid can migrate into the bowel lumen and interstitial space and in such patients dehydration can occur without diarrhoea and vomiting. Hyponatremia, hyperkalemia, metabolic acidosis, increased BUN and creatinine, hypochloraemia and lactic acidosis can occur in such cases.

Plain radiography

In simple malrotation, plain radiographs are frequently normal. Upright, supine and lateral radiographs may be helpful in diagnosing bowel obstruction but may be more contributory in large rather than small bowel obstruction. Radiographs taken several hours apart may be helpful. Dilated small-bowel loops, marked gastric or proximal duodenal dilatation, with or without intestinal gas, and air-fluid levels may be seen. Normal or equivocal results should not delay progress to other tests if the clinical situation is deteriorating.

In midgut volvulus, the classic radiographic finding is a partial duodenal obstruction (dilation of both stomach and proximal duodenum, with a small amount of distal bowel gas). This is known as the 'double bubble' sign. Complete obstruction of the duodenum may also be found. Less frequently are a gasless abdomen, ileus, or distal small bowel obstruction with multiple dilated loops and air-fluid levels. These are ominous signs.

Contrast studies

In malrotation, the duodeno-jejunal (DJ) junction is misplaced, either at or to the right of the midline. Various displacements of lower bowel structures may also be seen.

An upper GI contrast series is the investigation par excellence if volvulus is suspected. In a child, the UGI series is performed with a small amount of barium being administered either by bottle or through a nasogastric tube. Various patterns may be observed, including dilation of the proximal duodenum with a "bird-beak" obstruction and a spiral or corkscrew duodenal configuration. Selected patients may need studies of the lower bowel, using a barium enema.

Other imaging studies

Ultrasound may reveal a midline abdominal mass in suspected volvulus. Ultrasound and CT scanning can help to confirm malrotation by identifying the position of the mesenteric vessels. The "whirlpool sign" on colour Doppler may show a whirlpool pattern of flow within the superior mesenteric vein, indicating malrotation with volvulus. The low specificity of these tests suggests that whilst they may be useful screening tools, they are inferior to the UGI contrast series in the acute situation.

Management

Non-surgical

This may be appropriate for older patients with intestinal malrotation who are asymptomatic but they should be warned that volvulus can occur at any time. Observation and gastro-intestinal decompression with a nasogastric or orogastric tube should be commenced and a close watch kept for the development of symptoms or signs suggestive of intestinal obstruction.

Surgery

The Ladd procedure is the treatment of choice in most cases. Volvulus is corrected by rotating the small intestine in a counterclockwise direction, the caecum is placed in the left abdomen and the duodenum is directed down the right paravertebral gutter. A second-look laparotomy may be used 36 hours later to ensure viability of the remaining bowel.

A laparoscopic variation of the Ladd procedure has been used in some centers, with the general advantage of decreased adhesions and scarring, but good visualisation of the entire bowel is necessary. Laparoscopy is a particularly suitable investigative procedure for children presenting with acute abdomen. One study found that it produces better cosmesis, less postoperative pain and earlier return of bowel function than laparotomy.

Complications Complete and persisting midgut volvulus leads to intestinal ischaemia, mucosal necrosis and sepsis.

Untreated, perforation, peritonitis and death soon follow.

Chronic intermittent volvulus may cause malabsorption with constipation interspersed with diarrhoea.

Post-operatively, the main complication is short-gut syndrome with the consequent problems surrounding parenteral nutrition, i.e. line sepsis, hepatobiliary dysfunction and growth retardation.

Prognosis

Midgut volvulus carries a mortality rate of 3-15%. Survival rate is dependent to some extent on the amount of ischaemic bowel which has to be excised and on the length of delay before the condition is diagnosed and treated.

Prevention

Because volvulus is such a devastating complication in children, evidence supports operative treatment of asymptomatic malrotation, using the Ladd procedure. This is particularly appropriate for young children with no existing co-morbidity, as they recover quickly. There is no similar evidence base to support this approach in adults

Hirschsprung's Disease

Synonyms: congenital aganglionosis, congenital megacolon, megacolon congenitum

Description The underlying pathology is an absence of parasympathetic ganglion cells in the myenteric and

submucosal plexus of the rectum, possibly extending to the colon.

Ganglion cells are derived from the neural crest and migrate caudally with the vagal nerve fibres along the intestine. They arrive in the proximal colon by 8 weeks of gestation and in the rectum by 12 weeks.

Arrest in migration leads to an aganglionic segment which is unable to relax leading to a functional colonic obstruction.

The result is clinical Hirschsprung's disease.

Very rarely the small intestine may also be involved.

Epidemiology The incidence is around 1 in 5,000 births but it affects boys 4 times as often as girls.

At least half of all cases are diagnosed in the first year of life and by the age of 2, most have been diagnosed.

There are a few in whom diagnosis is delayed until later childhood or even adulthood.

Genetics About 30% give a family history of the disease.

OMIM lists a number of different gene sites for Hirschsprung's disease:

o One is on the x chromosome, and could help to explain the male preponderance.

o Another variation called Hirschsprung 2 is on chromosome 13.

o Hirschsprung modifier 1 is on chromosome 10.

o There is short segment disease due to problems on chromosome 3 and 19.

There are many other variants also listed in OMIM.

Associated diseases There may be an association with multiple endocrine neoplasia of the MEN2A and MEN2B varieties.

Between 5 and 15% of patients with Hirschsprung's disease may also have Down's syndrome.

Other associations include Waardenburg's syndrome, congenital deafness, malrotation, gastric diverticulum, and intestinal atresia.

There are 3 variations of Waardenburg's syndrome listed in OMIM. The major features are congenital deafness and partial albinism.

Presentation

History

Neonatal period Abdominal distention, failure of passage of meconium within the first 48 hours of life, and

repeated vomiting.

Delayed passage of meconium is very important as nearly half of all infants with Hirschsprung's disease do not pass meconium within 36 hours, and nearly half of infants with delayed first passage of meconium have Hirschsprung's disease.

Older infants and children Present with chronic constipation that is resistant to the usual treatments and a daily enema may

be required.

Rarely have soiling and overflow incontinence.

This is in contrast to children with functional constipation.

The disease causes early satiety, abdominal discomfort and distension due to the constipation and this leads to poor nutrition and poor weight gain.

Enterocolitis Can develop at any age.

There is typically abdominal pain, fever, foul-smelling and possibly bloody diarrhoea, with vomiting.

If not recognised early, this may progress to sepsis, transmural intestinal necrosis, and perforation.

The mortality with this condition is around 30 to 35% and this accounts for most of the mortality associated with Hirschsprung's disease.

Examination

Neonatal period May have abdominal distention (which is tympanic on percussion) and symptoms of intestinal

obstruction.

They may present with acute enterocolitis in this age group and, rarely, with neonatal meconium plug syndrome or appendicitis.

Older infants and children Have chronic constipation.

There may be marked abdominal distention with palpable dilated loops of colon.

Rectal examination often reveals an empty rectum and may result in the forceful expulsion of faecal material as examination is completed.

More rarely older children can present with malnourishment and possibly enterocolitis.

Differential diagnosis

In the neonatal period the main alternative diagnosis with delayed passage of meconium is meconium ileus which suggests cystic fibrosis.

Investigations Raised white blood cell count - possibility of enterocolitis.

Plain abdominal x-ray - looking for obstruction (usually dilated lower bowel).

Single contrast barium enema - if there is no suspicion of perforation of the bowel, an unprepared single contrast barium enema may demonstrate the transition from the normal sized bowel to the dilated segment. The abnormally innervated segment is of normal size and it is the normal segment proximal to it that is dilated. Neonates may not have had time for this dilated normally innervated segment to have developed. The transition zone may be quite obvious in adults patients with untreated disease.

Anorectal manometry - in older children with chronic constipation and an atypical history for either Hirschsprung's disease or functional constipation, anorectal manometry can be helpful in making or

excluding the diagnosis. In Hirschsprung's disease there is failure of reflex relaxation of the internal anal sphincter in response to inflation of a rectal balloon. It is also a very useful tool in the neonatal period but it is not a substitute for rectal biopsy.

Rectal biopsy - the definitive diagnosis rests on histology of a rectal biopsy. Tissue is obtained either by suction anal biopsy or by transanal wedge resection. Suction biopsy is best performed 2 to 2½cms above the dentate line, on the posterior wall to reduce the risk of perforation. The specimen is examined for the presence or absence of ganglion cells in the myenteric plexus. This may be difficult in short segments or with skip lesions and acetyl choline staining may be helpful.

Detection of serum proteins - although at an early stage of research, the detection of serum proteins to aid early screening and diagnosis of Hirschsprung's disease looks promising.

Management

Acute problems Presence of intestinal obstruction - intravenous rehydration, gastric and intestinal

decompression and cessation of oral feeding are required. Decompression may be achieved by a nasogastric tube from above and digital rectal examination or normal saline enemas once or twice a day from below.

Presence of enterocolitis - requires broad spectrum antibiotics and aggressive intravenous rehydration.

Surgical options The surgical options are limited by the patient's age, mental status, ability to perform activities of

daily living, length of the aganglionic segment, degree of colonic dilation, and any enterocolitis.

The Swenson procedure was the original procedure performed for Hirschsprung's disease. It involves releasing the defective distal colon to just above the anal canal and performing an end-to-end anastomosis. Thus the aganglionic segment is removed.

Surgery will also be dictated by success of decompression:

o Unsuccessful pre-operative decompression - a colostomy may be required whilst the dilated bowel returns to its normal size. This may be followed by a diverting colostomy and eventual closure.

o Successful pre-operative decompression - if there are no complications and dilatation has been adequately reversed by pre-operative decompression, then a one-stage procedure may be performed but the pathologist is extremely important in this. Segments of abnormal bowel are sent for immediate histological analysis to ascertain if normal bowel has yet been reached. On the one hand the surgeon does not wish to excise more bowel than is necessary but if he should leave behind an aganglionic segment, the condition will recur.

No special diet is required in patients with Hirschsprung's disease (unless they have acute obstruction or enterocolitis) and correction of the defect usually results in a normal functioning gastrointestinal tract.

Future therapy

There is some hope that the use of autologous neural crest-derived enteric stem cells may be a treatment for Hirschsprung’s disease. This would mean avoidance of surgery which has the risks of faecal incontinence.

Complications

Complications can include:

Soiling and incontinence (<1%)

Persisting constipation (~10%)

Leakage of the anastomosis

Enterocolitis - postoperatively may affect as many as a third

Stricture of the resected segment - a late complication

Late intestinal obstruction - possibly due to adhesions

Prognosis Most children acquire faecal continence and normal bowel habits but it does tend to be poorer than in

normal controls. However, some children may not acquire full faecal continence until late adolescence and the psychological affects of this should not be underestimated. Unsurprisingly, acquirement of faecal continence is associated with an improvement in quality of life.

A recent study has followed over 300 patients after surgery for Hirschsprung's disease over 8-20 years. Although satisfactory results were achieved in most some continued to have abnormal colonic motility and problems with the internal anal sphincter.

The prognosis with Down's syndrome is less favourable and some people recommend permanent colostomy.

History The first report of a patient with Hirschsprung's disease was made in 1691 by Frederick Ruysch. He

was a Dutch anatomist and botanist who lived from 1638 to 1731. He studied medicine in Leiden and was awarded MD in 1664. He had a passion for anatomy and would ask grave diggers to open graves so that he could study the corpse.

Harald Hirschsprung was a Danish paediatrician who was born in 1830 and died in 1916. His father founded a tobacco factory but he refused to join the business. He published the classical description of congenital megacolon in 1886.

Intussusception In Children

Intussusception is a term derived from the Latin intus (within) and suscipere (to receive). One segment of the bowel (intussusceptum) invaginates into another (intussuscipiens) just distal to it leading to obstruction. The bowel may simply telescope on itself (non-pathological lead point), or some pathology may be the focus of the invagination (pathological lead point).

Pathogenesis

The mesentery of the intussuscepted bowel becomes compressed. The bowel wall distends and obstructs the lumen. Peristalsis is disrupted leading to colic and vomiting. Lymphatic and venous obstruction occurs, causing ischaemia. In most children the intussusception is ileo-caecal, though ileo-ileocolic and ileo-ileal or colocolic cases can occur.

Epidemiology The male to female ratio is approximately 3:2.

Two-thirds of patients are under one year, the peak age being between 5-10 months.

Intussusception is the commonest cause of intestinal obstruction in patients aged 5 months - 3 years, and accounts for up to 25% of abdominal emergencies in children up to 5.

It is rare pre-term.

One large Swiss study found an overall incidence of 38, 31, and 26 cases per 100,000 live births in the first, second, and third year of life respectively.

Presentation Usually of sudden onset, maybe more insidious in the older child

Paroxysms (about every 10-20 minutes) of colicky abdominal pain (>80%) ± crying

May appear well between paroxysms initially

Early vomiting – rapidly becoming bile stained

Lethargy common, especially in infants

Palpable “sausage-shaped” mass (often in right upper quadrant)

Absence of bowel in right lower quadrant (Dance sign)

Dehydration , pallor, shock

Irritability, sweating

Later mucoid and bloody “red currant stools”

Late pyrexia

Causes and associated conditions

Non-pathological lead point (>90%) Viral 50% - rotavirus, adenovirus & human herpes virus 6 (HHV6)

Amoebomata, Shigella, Yersinia

Peyer's patch hypertrophy

Pathological lead point (<10%) Older patients (may have longer history)

Meckel's diverticulum (75%)

Polyps & Peutz-Jeghers' syndrome (16%)

Henoch-Schönlein purpura (3%)

Lymphoma & other tumours (3%)

Reduplication (a process by which the bowel wall is duplicated)(2%)

Cystic fibrosis

Ascariasis

Nephrotic syndrome

Foreign body

Post-operative

Hyperperistalsis

Exclusive breastfeeding

Weight above average

Rotavirus vaccine

Investigations Full Blood Count - may show neutrophilia

Urea and Electrolytes - may reflect dehydration

Abdominal X-Ray - may show dilated gas-filled proximal bowel, paucity of gas distally, multiple fluid levels (but may be normal in the early stages)

Ultrasound - may show doughnut or target sign , pseudokidney / sandwich appearance

Bowel enema - barium has been gold standard (crescent sign, filling defect) but air and water-soluble double-contrast now available, each has pros and cons, choice left to individual radiologist

CT / MRI - more often used in adults than children

Management Resuscitation - “drip & suck” - nasogastric tube and iv fluids

Radiological - reduction (3 tries for 3 min each) if no sign of peritonitis, perforation or shock

Air enema <120mmHg of pressure or barium enema - the choice of enema usually left to radiologist (many now favour air enema)

Laparotomy (reduction/resection) - indications:

o Peritonitis

o Perforation

o Prolonged history (>24hr)

o High likelihood of pathological lead point

o Failed enema

Admit to hospital, even if reduction appears successful, as significant recurrence rate

Complications Missed diagnosis

Ischaemia of the intussusceptum / intussuscipiens

Necrosis

Haemorrhage

Perforation

Infection & peritonitis

Failure of enema reduction

Chronic intussusception – rare cause of failure to thrive 20

Prognosis Prognosis - excellent with treatment

o Post-reduction recurrence :

Radiological: 5%

Surgical: 1-4%

Mortality: 1% with treatment, fatal if untreated

Malnutrition

Malnutrition is a nutrient deficiency state, whether of protein, energy or micronutrients (vitamins and minerals).1 This causes measurable harm to body composition, function or clinical outcome.(Note, overnutrition and resulting obesity are sometimes included within the general definition of 'malnutrition' but see separate guidance)

Protein-energy malnutrition (PEM)

2 forms:

1. Kwashiorkor Fair-to-normal energy intake, but inadequate protein.Associated with oedema and hepatomegaly. Word comes from the Ghanian language, Ga, and implies "the disease that the young child develops when displaced from his mother's breast by another child or pregnancy".

2. Marasmus Inadequate energy and protein intake. Associated with severe wasting.

Micronutrient deficiencies

Deficiencies in iron, iodine, Vitamin A and zinc remain major public health problems in developing countries

  Necessary for

Causes of deficiency Manifestations of isolated deficiency

Management and prevention

Iron HaemoglobinMyoglobin

Poor dietElevated needs (eg pregnancy, childhood)Parasitic infections

Anaemia and fatigueImpaired cognitive development Reduced growth

Foods rich in ironIron-fortified weaning foodsLow-dose supplements

Iodine Thyroid hormones

Most diets worldwide are deficient unless fortified salt or seafood available

Goitre Hypothyroidism CretinismGrowth retardation

Iodine supplementationFortified saltSeafood

Vitamin A

EyesImmune system

Diets poor in vegetables and animal products

Night blindnessImmune deficiencyIncreased childhood illness and death

Dark green leafy vegAnimal productsFortification of oils/fatsSupplementation

Zinc Many enzymesImmune system

Diets based on refined cereals and lacking in animal products

Immune deficiencyAcrodermatitisIncreased childhood illness and death

Zinc treatment for diarrhoea and malnutritionImproved diet

Malnutrition is both a cause and consequence of ill health: we tend to visualise malnutrition as solely affecting starving children in the developing world but it is common at home, particularly in the elderly and hospitalised populations and massively increases a patient's vulnerability to disease.

Epidemiology Globally, malnutrition is the most important risk factor for illness and death. It disproportionably affects

children and pregnant women. It is the direct cause of about 300,000 deaths p.a. and indirectly responsible for about half of all deaths in young children (malnutrition increases the risk of death from diarrhoea, lower respiratory tract infection, malaria and measles).

WHO estimates that by 2015, prevalence of malnutrition world-wide will be 17.6% - with the vast majority living in developing countries in southern Asia and sub-Saharan Africa.An additional 29% will have stunted growth due to poor nutrition.

In the UK, malnutrition affects 10-55% ill adults in hospital and the community and amongst hospitalised children 16% were found to be severely stunted, 14% wasted and 20% at risk of malnutrition if nutritionally stressed.

Amongst the elderly: malnutrition affects 1% healthy individuals in the community, 4-5% patient receiving home help living at home, 20% in hospital patients, and 37% in institutionalised individuals (Swiss study).

Risk factors

In children Under fives - most vulnerable are premature babies and infants at time of weaning

Children with co-existing chronic illnesses or developmental delay

Neglect by care-givers

Poverty and its complex relationships with:

o Political and economic situation

o Education

o Sanitation

o Season and climatic conditions

o Food production and security

o Cultural and religious traditions

o Prevalence of infectious diseases

o Availability and effectiveness of nutrition programmes and health services

In elderly Living alone

Institutionalisation

People with severe learning difficulties or mental health problems (depression, dementia)

Diseases that affect appetite, eating/swallowing or GI function (gastric surgery, malabsorption, stroke, neurological disorders such as motor neurone disease)

Catabolic states

Presentation5

Presentation in adults

Adults tend to lose weight - often insidiously. Oedema may mask weight loss.

BMI is a key measure (weight in kg divided by height in metres squared)17-18.5 - mild malnutrition16-17 - moderate malnutrition<16 - severe malnutrition

Other features may include listlessness, increasing fatigue, cold sensitivity, nonhealing wounds, severe decubitus ulcers.

Presentation in children

PEM:

Poor weight gain

Slowed linear growth

WHO criteria for identifying children with severe malnutrition:

o Bipedal oedema

o Visible severe wasting

Weight for height > -3 standard deviations from median of international reference population Behavioural changes - irritability, apathy, anxiety, attention deficit. Classically apathetic and quiet when lying in their bed but cry when picked up with a typical monotonous bleat or loud groan.

Three clinical syndromes (note, mixed pictures may occur):

Marasmus - obvious loss of weight with gross reduction in muscle mass especially from limb girdles. Subcutaneous fat virtually absent. Thin, atrophic skin lies in folds. Pinched face has appearance of old man or monkey. Alopecia and brittle hair. Sometimes appearance of lanugo hair.

Kwashiorkor - usually occurs in children aged 1-2 years with changing hair colour to red, grey or blonde. Moon facies, swollen abdomen (pot belly), hepatomegaly and pitting oedema. Dry, dark skin which splits where stretched over pressure areas to reveal pale areas.

Nutritional dwarfism - patient is small for age. Face shape may be affected by size of teeth versus face.

Differential diagnosis

Elderly failure-to-thrive7 (weight loss >5% of baseline, decreased appetite, poor nutrition, inactivity) - consider in addition to malnutrition:

Impaired physical function (for example, infection, malignancy, renal or heart failure).

Depression

Dementia

Severe malnutrition - may all co-exist: Dehydration

Severe infection

Hypoglycaemia

Anaemia

Investigations Anthropometric assessment - height, weight (height and weight for age and weight for height are

sensitive markers in childhood), BMI (used mainly in adults), mid upper arm diameter (overdiagnoses among younger children, undiagnoses among older children), skin folds.Note, standardised reference tables need to be appropriate for use with a particular ethnic group and may not be accurate for elderly populations.

For the investigation of malnourished children in developing countries, WHO recommends:

o Blood glucose

o FBC and film

o Urine MC&S

o Stool OC&P

o serum albumin

o HIV test

o U&Es

Note, tuberculin skin testing is less reliable in the malnourished child.

Additional tests to assess nutritional status may include: o Iron studies, folate, B12

o Pre-albumin, transferrin, retinol-binding protein (better short-term indicators of protein status than albumin alone)

o Thyroid function tests

o Coeliac serology

o Calcium, Phosphate, Zinc

o Vitamin levels - if deficiency suspected

Most accurate evidence of malnutrition in an elderly patient is hypocholesterolaemia and hypoalbuminaemia

Management

General measures for elderly population in UK General nutritional advice

Use of supplements - more effective than nutritional advice alone

Inability to shop/prepare meals - refer to social services, meals on wheels, community dietician, local day centres

Factors such as increasing number of people present at meals, improving the palatability of meals and finding optimal time of day and location of meals may also improve intake.

Difficulty with feeding utensils - refer to occupational therapy to consider aids/equipment

Nausea - consider anti-emetics

Oral pathology - treat if present

Dysphagia - investigate and refer to speech and language therapy. If not amenable to treatment, consider pureed food or thickened fluids.

Acute management of severely malnourished Clinical assessment - check for co-existing dehydration, infection, anaemia, hypoglycaemia

Correct shock and dehydration and restore electrolyte balance. Reverse malnutrition without overloading cardiac, renal, GI, or hepatic function.

Often need to treat coexisting infection (high prevalence - such that WHO recommends use of empirical antibiotics for first 7 days).

Many need vitamin replacement and treatment of hypoglycaemia with IV glucose and/or oral sucrose

Cases showing hypothermia require warming

Rehabilitation phase of treatment: starts as child's appetite returns, usually a week after treatment is started. Many essential nutrients are still deficient. Children should receive at least 130kcal/kg/day. Frequent feeds, with gradual increases in energy and protein intake to avoid cardiac failure.

Progress is monitored by daily weighing with weight gain target of 10-15g/kg/day.

Identify causes and involve family/community in prevention of relapse.

Complications Slower wound healing

Increased risk of infection

Decreased muscle strength

Poor cognition

Increased dependency

Increased mortality

Prognosis

Chronic malnutrition (particularly where associated with intrauterine growth retardation or early onset) leads to persistent growth retardation and cognitive deficit. Prognosis for PEM worse with co-existent HIV infection.

Prevention

In adults (NICE guidelines)1

Screening for malnutrition and for those at risk of developing it should take place:

All hospital inpatients on admission and repeated on a weekly basis during admission

All outpatient attendees at first clinic appointment

On entering a care home

At initial registration with a GP and opportunistically at, for example, influenza vaccination

Where clinical concern exists

Screening should assess BMI, percentage unintentional weight loss and consider time scale of reduced nutritional intake and likelihood of this continuing in the future. Tools such as MUST (Malnutrition Universal Screening Tool)11 exist to aid this assessment.

Nutritional support should be considered for those:

With a BMI<18.5

Unintentional weight loss >10% over last 3-6 months

BMI <20 and unintentional weight loss of >5% over last 3-6 months

Who have eaten little or nothing for >5 days and who are unlikely not to for next 5 days or longer

Who have poor absorption, high nutrient losses or increased nutritional needs.

Options for nutritional support include the use of oral, enteral or parenteral nutrition alone or in combination.

GPs widely prescribe oral nutritional supplements, most often to those with cancer or cardiovascular disease, but rarely record height, weight or other markers of nutritional status prior to prescribing.12

Using oral nutritional support: Use appropriate fortified standard foods as first-line treatment of malnourished patients prior to use

of supplements.

Always use in conjunction with appropriate dietary advice.

Do not prescribe on a long-term basis without regular monitoring and reassessment.

Nutritional needs and food intake determine the number of supplements needed - usually not more than 500-600 Kcal daily (approximately 2 cartons of sip feed) unless under care of a dietician.

Supplements should be given between meals and not with or instead of a meal.

Try different flavours and types of feeds to avoid boredom.

Only prescribable on the NHS for ACBS (Advisory Committee on Borderline Substances) approved conditions (short bowel syndrome, malabsorption syndromes, pre-operative preparation of malnourished patients, inflammatory bowel disease, total gastrectomy,dysphagia, bowel fistulae, disease-related malnutrition).

Consider carefully consent issues and whether or not the provision/withdrawal of nutritional support is appropriate - GMC guidance is available.

In childhood Good prenatal nutrition - importance of pre-conceptual and antenatal care

Promotion of breastfeeding

Health promotion/education- regular age-appropriate nutritional advice and counselling during childhood

Specific programmes addressing micronutrient supplementation/fortification (eg Vitamin D, iodine) according to population needs

Improvement of hygiene and sanitation to reduce infectious disease and parasitic load

Global political and economic commitment to achieving UN millennium development goals (specifically: the reduction of levels of extreme poverty and hunger to half 1990 levels by 2015)

Imperforate anus-Diagnosis

When an infant is born with an anorectal malformation, it is usually detected quickly as it is a very obvious defect. Doctors will then determine the type of birth defect the child was born with and whether or not there are any associated malformations. It is important to determine the presence of any associated defects during the newborn period in order to treat them early and avoid further sequelae. There are two main categories of anorectal malformations: those that require a protective colostomy and those that do not. The decision to open a colostomy is usually taken within the first 24 hours of life.

Treatment

Imperforate anus usually requires immediate surgery to open a passage for faeces. Depending on the severity of the imperforate, it is treated either with a perineal anoplasty or with a colostomy.

Features

There are several forms of imperforate anus:

A low lesion, in which the colon remains close to the skin. In this case, there may be a stenosis (narrowing) of the anus, or the anus may be missing altogether, with the rectum ending in a blind pouch.

A high lesion, in which the colon is higher up in the pelvis and there is a fistula connecting the rectum and the bladder, urethra or the vagina.

A persistent cloaca (from the term cloaca, an analogous orifice in reptiles and amphibians), in which the rectum, vagina and colon are joined into a single channel.

Imperforate anus is usually present along with other birth defects—spinal problems, heart problems, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb anomalies are among the possibilitie

Sonography can be used to determine the type of imperforate anus.

Prognosis

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.

Epidemiology

Imperforate anus has an estimated incidence of 1 in 5000 births It affects boys and girls with similar frequency. However, imperforate anus will present as the low version 90% of the time in females and 50% of the time in males.

Imperforate anus is an occasional complication of sacrococcygeal teratoma.