Pale stools suggest obstructive jaundice. Initially, the symptoms of biliary atresia are indistinguishable from those of neonatal jaundice, a usually harmless condition commonly seen in infants. However, infants with biliary atresia develop progressive conjugated jaundice, pale white stools and dark urine.

Based on the clinical scenario, the most likely risk factor in this child to develop gallstones is sickle cell disease.

Note:
Haemolysis is the most frequent cause for gallstones in children and the likeliest cause because of his ethnicity would be sickle cell disease. The gallstones are pigmented which form from bilirubin. 70% of patients with sickle cell disease will develop gallstones; the prevalence of gallstones is related to the rate of haemolysis.

Other options:
– Gilbert’s syndrome: it is a common condition in which bilirubin glucuronidation (i.e. converting bilirubin into a water-soluble form) is affected. During times of stress (viral illness, fasting, etc.) there is an excess bilirubin production, and jaundice may develop. It is a benign condition but there is some evidence of an increased risk of developing gallstones. However, sickle cell disease is a more likely risk factor in this case.
– Hereditary spherocytosis: Hereditary spherocytosis is a disease of the white population and is less likely to be the underlying cause in this case.
– Male gender: After puberty, the incidence of gallstones is higher in women. Before puberty, the incidence is equal.
– Obesity: Obesity is a risk factor for gallstones and is thought to be behind the rising incidence among young adults. Nevertheless, haemolytic states remain the most common reason for gallstones in children.

The structure in question is the rectus sheath. This sheath encloses the rectus abdominis muscle and thus, will be encountered by the surgeon.

Note:
– Midline incision: It is the most common approach to the abdomen. The
structures divided during this incision are linea alba, transversalis fascia, extraperitoneal fat, and peritoneum ( with care taken to avoid the falciform ligament above the umbilicus).
The bladder can be accessed via an extraperitoneal approach through the space of Retzius.
– Paramedian incision: It is an incision that is made parallel to the midline. The structures divided or retracted are anterior rectus sheath, rectus (retracted), posterior rectus sheath, transversalis fascia, extraperitoneal fat, and peritoneum.
– Battle incision: It is similar to a paramedian but the rectus is displaced medially (and thus denervated).
– Kocher’s incision: It is an incision made under the right subcostal margin, e.g. cholecystectomy (open).
– Lanz incision: It is an incision in the right iliac fossa, e.g. appendicectomy.
Gridiron incision: It is an oblique incision centred over the McBurney’s point – usually used for appendicectomy (less cosmetically acceptable than Lanz
Pfannenstiel’s incision: It is a transverse suprapubic incision, primarily used to access pelvic organs.
McEvedy’s incision: It is a groin incision used for emergency repair strangulated femoral hernia.
Rutherford Morrison incision: It provides an extraperitoneal approach to left or right lower quadrants. It provides excellent access to iliac vessels and is the approach of choice for first-time renal transplantation.

The accuracy of the test for calcium levels in the blood is affected by the blood level of albumin.
If albumin levels are low, the calcium level can also appear low.
This is termed as pseudohypocalcemia.

Hypocalcaemia usually presents with muscle spams. These can include spasms of voluntary muscle but also smooth muscle such as in the airways (causing bronchospasm) and in the heart (causing angina).

The patient is most likely suffering from obstructive jaundice. Ultrasound of the abdomen is the superior diagnostic tool in detecting and assessing biliary system obstruction, because it is easy, available, accurate and non-invasive.

Gastrointestinal polyps are common in children and may result in intussusception due to polyp traction. Treatment is usually surgical with enterotomy and removal of the polyp or of a segment of the bowel.

The most probable diagnosis in this patient is lead poisoning.

Lead poisoning:
While it is not common, it can be potentially fatal. One of the key presenting features here is pica, the ingestion of non-nutritive substances such as soil, soap, paper or wood. Pica can also be observed in children in iron-deficiency anaemia, developmental delay and pregnancy.
However, in a child who is exposed to lead in their environment (e.g. from lead paint or pipes), lead poisoning is most likely. It is commonly associated with iron deficiency which in turn increases the lead absorption.
Treatment is either with oral D-penicillamine or intravenous sodium calcium edetate.

Based on the presentation, the patient is probably a case of Crohn’s disease. The first-line treatment of Crohn’s disease is exclusive enteral nutrition.

Exclusive enteral nutrition (EEN)
This involves drinking a protein-based formula exclusively for 6-8 weeks. It has been shown to have superior mucosal healing when compared with steroids. Furthermore, it is nutritionally advantageous when compared to steroids and does not have the side-effect profile of steroids.

Other options:
– Intravenous steroids: This is the first-line treatment for ulcerative colitis (UC) or Crohn’s disease if there is rectal disease (which is not the case here). Side-effects include adrenal suppression, behavioural effects, osteopenia and changes in adipose tissue distribution.
– Oral steroids: This can be used if EEN is not possible. However, the side-effect profile is less favourable and is not as effective concerning mucosal healing.
– Parental nutrition and surgery: They may be occasionally required in severe cases that have failed first-line therapy.

The gastrocolic reflex is a physiological reflex that involves increase in colonic motility in response to stretch in the stomach and by-products of digestion in the small intestine. It is shown to be uneven in its distribution throughout the colon, with the sigmoid colon affected more than the right side of the colon in terms of a phasic response. Various neuropeptides have been proposed as mediators of this reflex, such as serotonin, neurotensin, cholecystokinin and gastrin.

Pellagra occurs as a result of niacin (vitamin B-3) deficiency. Niacin is required for most cellular processes. Since tryptophan in the diet can be converted to niacin in the body, both of these need to be deficient for pellagra to develop.

The classical triad of symptoms is diarrhoea, dermatitis and dementia.

The first sign is reddened skin with superficial scaling in areas exposed to sunlight, heat and friction. This may resemble severe sunburn then gradually subsides leaving a dusky brown-red colouration. The rash is usually symmetrical with a clear edge between affected and unaffected skin.

Answer: Surveillance annual flexible sigmoidoscopy from age 13 years until age 30 years.

Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome. It is an autosomal dominant inherited disorder characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. If left untreated, all patients with this syndrome will develop colon cancer by age 35-40 years. In addition, an increased risk exists for the development of other malignancies.
Most patients with FAP are asymptomatic until they develop cancer. As a result, diagnosing presymptomatic patients is essential.

Of patients with FAP, 75%-80% have a family history of polyps and/or colorectal cancer at age 40 years or younger.

Nonspecific symptoms, such as unexplained rectal bleeding (haematochezia), diarrhoea, or abdominal pain, in young patients may be suggestive of FAP.

In a minority of FAP families a mutation cannot be identified and so annual flexible sigmoidoscopy should be offered to at risk family members from age 13-15 years until age 30, and at three to five year intervals thereafter until age 60 years.

Breast feeding should be continued for babies with breast milk jaundice as this is a benign condition.

The boy needs re-hydration and hydro-electrolytic re-balancing due to fluid losses from the gastroenteritis and subsequent dehydration.

The most likely causative organism for the symptoms of this child is Giardia lamblia.

Giardiasis results in fat malabsorption thus giving rise to greasy stools. It is resistant to chlorination, hence has a risk of transfer in swimming pools.

World Health Organisation definitions
– Diarrhoea: > 3 loose or watery stool per day
– Acute diarrhoea < 14 days
– Chronic diarrhoea > 14 days

Conditions that usually present as acute diarrhoea:
– Gastroenteritis: It may be accompanied by abdominal pain or nausea/vomiting.
– Antibiotic therapy: Can occur following antibiotic therapy, especially common with broad spectrum antibiotics.

Conditions that usually present as chronic diarrhoea:
– Irritable bowel syndrome: It is a very common disease.
The most consistent features are abdominal pain, bloating and change in bowel habit. Patients may be divided into those with diarrhoea predominant IBS and those with constipation-predominant IBS.
Features such as lethargy, nausea, backache and bladder symptoms may also be present in these patients.
– Ulcerative colitis: It presents as bloody diarrhoea. Patients can also present with crampy abdominal pain and weight loss. Faecal urgency and tenesmus may be seen.
– Crohn’s disease: It is also associated with crampy abdominal pains and diarrhoea. Bloody diarrhoea less common than in ulcerative colitis. Other features include malabsorption, mouth ulcers perianal disease and intestinal obstruction
– Colorectal cancer: It is very rare in children. The symptoms depend on the site of the lesion but include diarrhoea, rectal bleeding, anaemia and constitutional symptoms like weight loss and anorexia.
– Coeliac disease: In children, it may present with failure to thrive, diarrhoea and abdominal distension.

Other conditions associated with diarrhoea include thyrotoxicosis, laxative abuse, appendicitis, and radiation enteritis.

Anorexia nervosa is a serious, psychiatric eating disorder characterized by distorted self-image due to which abnormal eating behaviours are adopted. This disorder affects multiple bodily systems, including the gastrointestinal system. The GI manifestations of anorexia are enlarged salivary glands due to purging behaviour, gastritis, gastroparesis, acute gastric dilatation, superior mesenteric artery syndrome, elevated liver transaminases, which cause hepatocyte apoptosis leading to cirrhosis, and steatosis leading to fatty liver.
Hepatosplenomegaly is not a recognized complication of anorexia nervosa.

Celiac disease has characteristic shortened intestinal villi. When patients with celiac disease eat products containing gluten, they are unable to absorb the nutrients due to flattened or shortened intestinal villi. The blistering rash present on the patient’s elbows strongly suggests celiac disease. This rash is a sign of the condition Dermatitis Herpetiformis which is associate with celiac disease. Therefore, it is also often called ‘gluten rash’.

The most common cause for acute bloody diarrhoea in a 10-year-old child is Campylobacter.

Note:
Campylobacter is the most common bacterial cause of gastroenteritis in the UK. It typically presents with bloody diarrhoea, fever, abdominal pain and vomiting. The primary source of Campylobacter is uncooked poultry. Treatment is generally supportive unless the child is immunosuppressed or the symptoms are persistent.

Other options:
– E. coli 0157:H7: It causes acute haemorrhagic diarrhoea, usually afebrile. It can lead to haemolytic uremic syndrome (haemolytic anaemia, acute renal failure and thrombocytopenia), which is the commonest cause of acute renal failure in children.
– Rotavirus: It rarely causes bloody diarrhoea.
– Salmonella and Yersinia: While they can cause bloody diarrhoea, they are much less common compared to Campylobacter.

Primary sclerosing cholangitis (PSC) is a long-term progressive disease of the liver and gallbladder characterized by inflammation and scarring of the bile ducts which normally allow bile to drain from the gallbladder. Early cholangiographic changes can include fine or deep ulcerations of the common bile duct. As PSC progresses, segmental fibrosis develops within the bile ducts, with saccular dilatation of the normal areas between them, leading to the typical beads-on-a-string appearance seen on cholangiography. Although these strictures can be found anywhere on the biliary tree, the intrahepatic and extrahepatic bile ducts are simultaneously involved in the vast majority of cases.

Frequent regurgitation of milk and microcytic anaemia is suggestive of a hiatus hernia. The reflux causes regurgitation of milk and frequent ulceration of the lower oesophageal mucosa potentially resulting in blood loss and anaemia. Duodenal atresia usually presents with bilious vomiting and pyloric stenosis presents with projectile vomiting. Alpha 1 antitrypsin deficiency and cystic fibrosis usually do not present with vomiting.

Gastroesophageal reflux occurs in almost all infants, manifesting as wet burps after feeding. The spit-ups appear effortless and not particularly forceful.
Infants in whom reflux has caused GERD have additional symptoms, such as irritability, feeding refusal, and/or respiratory symptoms such as chronic recurrent coughing or wheezing and sometimes stridor. Much less commonly, infants have intermittent apnoea or episodes of arching the back and turning the head to one side (Sandifer syndrome). Infants may fail to gain weight appropriately or, less often, lose weight.
Incidence of gastroesophageal reflux increases between 2 months and 6 months of age (likely due to an increased volume of liquid at each feeding) and then starts to decrease after 7 months. Gastroesophageal reflux resolves in about 85% of infants by 12 months and in 95% by 18 months.

Jaundice in a new-born on the day of delivery is most likely due to Rh incompatibility. This occurs when the mother is Rh-negative and the baby is Rh-positive. Antibodies in the mother against the Rh factor in the baby will destroy the red blood cells in the baby, increasing the bilirubin in the blood. Breast milk jaundice and Galactosemia do not occur immediately after birth, and congenital rubella syndrome and formula feeding does not cause jaundice in babies.

Hypertrophic villi is a response to chronic irritation by allergic reactions

Biliary atresia is a rare condition that usually becomes symptomatic 2 to 8 weeks after birth. It can be congenital or acquired. Typical symptoms include jaundice, weight loss, dark urine and pale stools.

Unconjugated bilirubin is conjugated to glucuronic acid in the hepatocyte. Conjugated bilirubin passes into the enterohepatic circulation and the bilirubin which evades this system is metabolised by bacteria, primarily in the large intestine, to urobilinogen, then stercobilinogen and eventually oxidised to stercobilin. Stercobilin gives faeces its brown colour.

Based on the clinical scenario provided, the most probable diagnosis is Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome is an autosomal dominant condition characterised by numerous hamartomatous polyps in the gastrointestinal tract.
It is also associated with pigmented freckles on the lips, face, palms and soles.
Genetic basis: It follows an autosomal dominant inheritance, and the gene responsible encodes serine-threonine kinase LKB1 or STK11.

Classical features of PJS include:
– Hamartomatous polyps in the GI tract (mainly small bowel)
– Pigmented lesions on lips, oral mucosa, face, palms and soles
– Intestinal obstruction, e.g. intussusception
– Gastrointestinal bleeding

The treatment is mainly conservative unless complications develop.

Note:
Hereditary haemorrhagic telangiectasia can also be associated with mucocutaneous lesions and iron-deficiency anaemia, but intestinal polyps are not a feature.

Bulimia nervosa is a condition in which a person is involved in binge eating and then purging. This patient has swollen parotid glands. The glands swell in order to increase saliva production so that the saliva lost in the vomiting is compensated. This patient also has thickened calluses on the back of her hand. This is known as Russell’s sign. This occurs because of putting fingers in the mouth again and again to induce the gag reflex and vomit. The knuckles get inflamed in the process after coming in contact with the teeth multiple times.

From the midgut derives most of the small intestine as well as some parts of the large intestine, including the appendix. The appendix is at the base of caecum, up to 10cm long and mainly comprised of lymphoid tissue (Hence mesenteric adenitis may mimic appendicitis).

Meckel’s diverticulum is a congenital diverticulum of the small intestine. It is a remnant of the omphalomesenteric duct (also called the vitellointestinal duct) and contains ectopic ileal, gastric or pancreatic mucosa.

Rule of 2’s
– occurs in 2% of the population
– it is located 2 feet proximal to the ileocaecal valve
– it is 2 inches long
– it is 2 times more common in men
– there are 2 tissue types involved

It is typically asymptomatic. Symptomatic presentation indicates inflammation of the diverticulum. The symptoms include:
– Abdominal pain mimicking appendicitis
– Rectal bleeding
– Intestinal obstruction: secondary to an omphalomesenteric band (most commonly), volvulus and intussusception

Management:
Surgical removal if the neck of the diverticulum is narrow or symptomatic. Surgical options are excision or formal small bowel resection and anastomosis.

CUTANEOUS DISORDERS OR DERMATOSIS ASSOCIATED WITH IBD
– Psoriasis
– Secondary amyloidosis
– Vitiligo
– Acquired epidermolysis bullosa

In some cases, non-granulomatous skin disorders occur as a reaction to the intestinal disease. These include:
– Pyoderma gangrenosum
– Neutrophilic dermatosis / Sweet syndrome, typically with pustules
– Pyodermatitis-pyostomatitis vegetans, a purulent erosive dermatosis characterised by snail-track ulcers
– Erythema multiforme
– Erythema nodosum
– Acneiform eruptions including nodulocystic acne, hidradenitis suppurativa and folliculitis
– Palisaded neutrophilic and granulomatous dermatitis
– Necrotizing and granulomatous small vessel vasculitis.

Total parenteral nutrition (TPN) frequently causes derangement of liver function in children.

Other options:
– While line sepsis and thromboembolism are recognised complications of TPN, they do not occur frequently.
– A child who is on TPN will require regular blood tests because of the potential for the development of electrolyte abnormalities. Need to observe their liver function, in order to provide TPN more accurately.