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.

Based on the clinical scenario, the most probable diagnosis is Wilson’s disease. Elevated serum ceruloplasmin levels can confirm the diagnosis.Serum ceruloplasminWilson’s disease causes reduced binding of copper to ceruloplasmin, which is the body’s primary copper carrying protein. As a result, copper cannot be excreted into the bile. Copper, therefore, builds up in the liver, causing toxicity and is secreted into the bloodstream unbound to ceruloplasmin. This free copper is deposited around the body, especially the brain, eyes and kidneys. The genetic defect means that ceruloplasmin is not released into the bloodstream| therefore, ceruloplasmin is low in Wilson’s disease.Other options:- Microscopic evaluation of the hair is performed in Menke’s disease, which is a disease of copper absorption leading to copper deficiency. This causes kinky hair, failure to thrive and neurological symptoms (such as hypotonia).- Magnetic resonance imaging (MRI) scan of the brain: An MRI brain may show features of Wilson’s disease (especially in the basal ganglia), but it is not diagnostic.- Serum ferritin: Serum ferritin becomes high in haemochromatosis. This classically causes cirrhosis, bronzing of the skin, cardiomyopathy and diabetes.- Ultrasound scan of the abdomen: While it is useful in any case of hepatomegaly| it is not going to provide the diagnosis in this case.

Hirschsprung’s disease is characterized by congenital absence of the autonomic plexus (Meissner’s and Auerbach’s plexus) in the intestinal wall. Usually limited to the distal colon, it can occasionally involve the entire colon or even the small bowel. There is abnormal or absent peristalsis in the affected segment, resulting in continuous spasm of smooth muscle and partial/complete obstruction. This causes accumulation of intestinal contents and dilatation of proximal segment. Skip lesions are highly uncommon. This disease is seen early in life with 15% patients presenting in first month, 60% by 1 year of age and 85% by the age of 4 years. Symptoms include severe and complete constipation, abdominal distension and vomiting. Patients with involvement of ultra-short segments might have mild constipation with intervening diarrhoea. In older children, symptoms include failure to thrive, anorexia, and lack of an urge to defecate. On examination, an empty rectum is revealed with stool palpable high up in the colon. If not diagnosed in time, it can lead to Hirschsprung’s enterocolitis (toxic megacolon), which can be fulminant and lead to death. Diagnosis involves a barium enema or a rectal suction biopsy. Barium enema shows a transition in diameter between the dilated, normal colon proximal to the narrowed, affected distal segment. It is to be noted that barium enema should be done without prior preparation, which can dilate the abnormal segment, leading to a false-negative result. A 24-hour post-evacuation film can be obtained in the neonatal period – if the colon is still filled with barium, there is a high likelihood of Hirschsprung’s disease. Full-thickness rectal biopsy is diagnostic by showing the absence of ganglion cells. Acetylcholinesterase staining can be done to highlight the enlarged nerve trunks. Abnormal innervation can also be demonstrated by rectal manometry.

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).

Maternal smoking is one of the most significant risk factors for pyloric stenosis.Remember the three Ps for Pyloric Stenosis:P – palpable massP – peristalsisP – projectile vomiting

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.

According to the NICE guidelines, the frequency of stool passage is considered constipation when two or more of the following findings are present: Fewer than 3 stools a week, large hard stools, stools that resemble rabbit droppings| symptoms associated with defecation including distress, bleeding or straining| a history of previous episodes of a precious/current anal fissure. The child in the scenario fails to meet the criteria, and has no evidence of impacted faeces on examination. The best course of action is to encourage the parents to give the child more water to prevent dehydration, and feed the child a fibre rich diet including fruits, vegetables and high fibre bread.

Bulimia nervosa is an eating disorder that involves frequent episodes of binge eating followed by inappropriate purging behaviour. The underlying reason for this behaviour is distorted self-image. Bulimia leads to several medical issues, including various laboratory derangements. Among these deranged laboratory parameters are the hormone cholecystokinin, which is found to be decreased in women having bulimia. It is hypothesized that the bingeing episodes observed in patients with bulimia are due to lower levels of CCK since normal levels of CCK are involved in maintaining satiety and controlling the urge to binge eat.

Based on the given scenario, the most probable diagnosis for this patient is acquired immune deficiency syndrome (AIDS) caused by human immunodeficiency virus (HIV). Thus, the most appropriate investigation to confirm the underlying pathology in this patient would be viral serology. Rationale:The presence of oesophageal candidiasis is highly suggestive of severe immunosuppression. The causes of immunosuppression can be chemotherapy, with haematological malignancy, HIV or inhaled steroids. In patients with HIV, oesophageal candidiasis is part of the spectrum of AIDS-defining illnesses and usually occurs when the CD4 count is < 200 cells/microL. Other AIDS-defining illnesses include PCP pneumonia and CMV infections.Oesophageal Candidiasis:It is characterised by white spots in the oropharynx with extension into the oesophagus. It seldom occurs without an associated underlying risk factor like broad-spectrum antibiotic usage, immunosuppression and immunological disorders.Patients may present with oropharyngeal symptoms, odynophagia and dysphagia.Treatment is directed both at the underlying cause (which should be investigated for) and with oral antifungal agents.

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.

One of the features of pyloric stenosis is hypochloraemic, hypokalaemic metabolic alkalosis. In emergency settings, capillary blood gas is the easiest and fastest way to establish a sustainable suspicion of pyloric stenosis. However, all tests are useful for the diagnosis of the condition.

The elemental diet is a medically supervised, sole nutrition dietary management given to individuals with moderate to severe impaired gastrointestinal function for 14-21 days.The diet consists of macronutrients broken down into their elemental form requiring little to no digestive functionality allowing time for the gut to rest. Elemental formulations are believed to be entirely absorbed within the first few feet of small intestine.

H. pylori release the enzyme urease that has the ability to split urea releasing nitrogen. This process increases the pH in the gastric antrum making the gastric pH less acidic.Helicobacter pylori:It is a spiral, microaerophilic, gram-negative bacterium. It is one of the most common causes of antral gastritis in children. Ulcers are less common in children compared with adults| however, when they occur, they are more common in the duodenum.The presence of H.pylori can be confirmed by:- Stool antigen test (preferred)- Serology- Endoscopy with biopsy and culture- Rapid urease testsH.pylori gastritis may be associated with:- Iron deficiency anaemia- Gastric malignancy Management:The treatment is with triple therapy- two antibiotics, and an antacid.Treatment failure is often attributed to a possible worldwide increase in macrolide resistance. Interestingly, children have higher antibiotic resistance compared with adults.Note:Zollinger-Ellison syndrome (ZES) causes gastrin-secreting tumours and can present as a part of multiple endocrine neoplasia type 1 (MEN1)- an autosomal dominant disorder.

Colonic Polyposis and neoplasia are often seen in Cowden Syndrome which is a hamartomatous polyposis syndrome. Patients with Cowden syndrome have an increased risk for colorectal cancer.

The presence of anti-endomysial antibodies confirms the diagnosis of Celiac disease, which is the primary cause of illness in this patient. The sweat chloride test is performed with cystic fibrosis.

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 bleedingThe 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.

Coeliac disease is associated with the following conditions:- Dermatitis herpetiformis- Autoimmune disorders (e.g. thyroid disease, pernicious anaemia, diabetes)- IgA deficiency- Small-bowel malignancy, particularly lymphoma, if the gluten-free diet is not followed.Serology testing: The IgA tissue transglutaminase antibody is the most sensitive and specific, compared with the anti-endomysial antibody. However, false negatives will occur in children who are IgA-deficient, and IgA levels should be taken at the same time. Other options:Distal obstruction syndrome, meconium ileus, pancreatitis and rectal prolapse are all gastrointestinal manifestations of cystic fibrosis.

The clinical picture suggests that the child is severely dehydrated. IV fluid bolus then IV maintenance fluids is the correct option.

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.

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.

The most common position of the appendix is the retrocecal position.Note: If a retrocecal appendix is difficult to remove, then mobilisation of the right colon significantly improves access.Other options:The various positions of the appendix are:- Retrocecal (74%)- Pelvic (21%)- Postileal- Subcaecal- Paracaecal- Preileal

The coeliac axis supplies the liver and stomach and from the oesophagus to the first half of the duodenum. The second half of the duodenum to the first two thirds of the transverse colon is supplied by the superior mesenteric artery. The inferior mesenteric supplies the last third of the transverse colon (approximately from the splenic flexure) to the first third of the rectum. The last two thirds of the rectum are supplied by the middle rectal artery. The greater curvature of the stomach is supplied by branches of the splenic artery, which itself comes from the coeliac axis.

Based on the history and clinical presentation, she most likely has iron toxicity.Iron can cause scarring of the gut mucosa. This explains her pyloric stenosis. This typically occurs at the pylorus as this is where iron tablets tend to pool and cause maximal tissue damage.Other options:- Citalopram: Selective serotonin reuptake inhibitors (SSRIs) ingestion rarely causes serious consequences. It can rarely lead to serotonin syndrome (autonomic instability, mental status change, and increased neuromuscular tone).- Ibuprofen: While it may cause gastritis, ibuprofen does not cause pyloric/intestinal stenosis.- Thyroxine: An overdose of thyroxine will cause features of hyperthyroidism which are not present in the patient in question.- Zinc: High doses of zinc can cause abdominal cramps, nausea, vomiting and diarrhoea.

Pyloric stenosis affects infants, typically in the second to fourth weeks of life and is caused most commonly by hypertrophy and thickening of the pylorus. It usually presents with projectile vomiting and failure to thrive. The infant usually has a normal appetite. Features include: ‘projectile’ vomiting, typically 30 minutes after a feed, constipation and dehydration may also be present and a palpable mass may be present in the upper abdomen.

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.

Celiac disease is classified as a Type IV hypersensitivity mediated by T-cell response. Negatively charged gliadin has been shown to induce interleukin 15 in the enteric epithelial cells, stimulating the proliferation of the natural killer cells and intraepithelial lymphocytes to express NK-G2D, a marker for natural killer T lymphocytes.

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.

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.

CUTANEOUS DISORDERS OR DERMATOSIS ASSOCIATED WITH IBD- Psoriasis- Secondary amyloidosis- Vitiligo- Acquired epidermolysis bullosaIn 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.

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.

The Green Book guidelines report in an active infection (HBeAg+ and HBsAg+) to give the vaccine as well as immunoglobulin. If antibodies are present it is not active infection (anti-Hbe) and then in that case only the vaccine, and no immunoglobulin, would be given. The presence of HBeAg means a person is infectious and can transmit to other people.

Most experts suggest that parents reassurance in case of infantile gastro-oesophageal reflux (GOR) is a sufficient initial measure that involves education about regurgitation and lifestyle changes.

This patient has Wilson’s disease. They Kayser-Fleischer ring (ring that encircles the iris) is diagnostic of this. Low serum copper is seen in Wilson’s disease. With the Kayser-Fleischer ring, this makes all of the other answer choices incorrect.

Peutz-Jeghers syndrome is an autosomal dominant genetic disease. It presents with hyperpigmentation patches on the oral mucosa, lips, palm and soles, and nasal alae. It also presents with hamartomatous polyps in the gut, hence the fresh blood in this particular case.

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 daysConditions 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.

Food poisoning is defined as an illness caused by the consumption of food or water contaminated with bacteria and/or their toxins, or with parasites, viruses, or chemicals. The most common pathogens are Norovirus, Escherichia coli, Salmonella, Clostridium perfringens, Campylobacter, and Staphylococcus aureus.The following are some of the salient features of food poisoning:Acute diarrhoea in food poisoning usually lasts less than 2 weeks. Diarrhoea lasting 2-4 weeks is classified as persistent. Chronic diarrhoea is defined by duration of more than 4 weeks.The presence of fever suggests an invasive disease. However, sometimes fever and diarrhoea may result from infection outside the GI tract, as in malaria.A stool with blood or mucus indicates invasion of the intestinal or colonic mucosa.Reactive arthritis can be seen with Salmonella, Shigella, Campylobacter, and Yersinia infections.A profuse rice-water stool suggests cholera or a similar process.Abdominal pain is most severe in inflammatory processes. Painful abdominal cramps suggest underlying electrolyte loss, as in severe cholera.A history of bloating should raise the suspicion of giardiasis.Yersinia enterocolitis may mimic the symptoms of appendicitis.Proctitis syndrome, seen with shigellosis, is characterized by frequent painful bowel movements containing blood, pus, and mucus. Tenesmus and rectal discomfort are prominent features.Consumption of undercooked meat/poultry is suspicious for Salmonella, Campylobacter, Shiga toxin E coli, and C perfringens.Consumption of raw seafood is suspicious for Norwalk-like virus, Vibrioorganism, or hepatitis A.Consumption of homemade canned foods is associated with C botulinum.Consumption of unpasteurized soft cheeses is associated with Listeria, Salmonella, Campylobacter, Shiga toxin E coli, and Yersinia.Consumption of deli meats notoriously is responsible for listeriosis.Consumption of unpasteurized milk or juice is suspicious for Campylobacter, Salmonella, Shiga toxin E coli, and Yersinia.Salmonella has been associated with consumption of raw eggs.

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 LanzPfannenstiel’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.

Projectile vomiting is the hallmark symptom of hypertrophic pyloric stenosis. It is the most common cause of intestinal obstruction in infancy, which has a male-to-female predominance of 4-5:1. Current management recommendations include ultrasonography for diagnosis, correction of electrolytes, and surgical intervention.

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

Intussusception is the most suggested case here based on the child’s symptoms. The urgent course of treatment is to bring the child to a paediatric surgical unit. If air reduction attempts fail, surgery will have to be done. Risk factors for intussusception include viral infection and intestinal lymphadenopathy.

Haemolytic Uremic Syndrome affects children and is characterised by abdominal pain, a purpuric rash over the body, generalized pallor, haematuria and bloody diarrhoea. There is always a history of preceding diarrhoea caused usually by E.coli and it affects the renal system causing haematuria and deranged renal function tests.

This patient in question is most likely suffering from inflammatory bowel disease, probably ulcerative colitis. The most valuable investigation that can assess the severity and extent of the disease, including the opportunity to obtain biopsies is a colonoscopy.Other options:Barium studies and abdominal x-rays do not give sufficient information. While they can provide indicative evidence, only a colonoscopy-guided biopsy can confirm IBD.Radio-isotope scans will help in identifying a focus such as a Meckel’s diverticulum, and angiography is rarely indicated unless a vascular lesion is suspected of causing the intestinal bleed.

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

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.

In pyloric stenosis a new-born baby presents with a history of vomiting, constipation and deranged electrolytes. Excessive vomiting leads to hypokalaemia. Difficulty in food passing from the stomach to the small intestine causes constipation. Hypokalaemia also causes constipation. None of the other disorders mentioned present with the hypokalaemia, vomiting and constipation triad in a new-born.

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.

Breast milk jaundice is thought to be associated with one or more abnormalities in the maternal milk itself. Breast milk jaundice syndrome generally needs no therapy if serum bilirubin concentrations remain below 270 mmol/l in healthy full-term infants. When the serum bilirubin concentration is above 270 mmol/l and rising, temporary interruption of breastfeeding may be indicated.

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.

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.

Hypertrophic villi is a response to chronic irritation by allergic reactions

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 baby has duodenal atresia.Presenting symptoms and signs are results of high intestinal obstruction. Duodenal atresia is typically characterized by the onset of vomiting within hours of birth. While vomitus is most often bilious, it may be nonbilious because 15% of defects occur proximal to the ampulla of Vater. Occasionally, infants with duodenal stenosis escape detection of an abnormality and proceed into childhood or, rarely, into adulthood before a partial obstruction is noted. Nevertheless, one should assume any child with bilious vomiting has a proximal GI obstruction until proven otherwise, and further workup should be begun expeditiously.congenital duodenal atresia is one of the more common intestinal anomalies treated by paediatric surgeons, occurring 1 in 2500-5000 live births. In 25-40% of cases, the anomaly is encountered in an infant with trisomy 21 (Down syndrome).

People with Gilbert syndrome have a build-up of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In affected individuals, bilirubin levels fluctuate and very rarely increase to levels that cause jaundice. Gilbert syndrome is usually recognized in adolescence. If people with this condition have episodes of hyperbilirubinemia, these episodes are generally mild and typically occur when the body is under stress, for instance because of dehydration, prolonged periods without food (fasting), illness, vigorous exercise, or menstruation. Some people with Gilbert syndrome also experience abdominal discomfort or tiredness. However, approximately 30 percent of people with Gilbert syndrome have no signs or symptoms of the condition and are discovered only when routine blood tests reveal elevated unconjugated bilirubin levels.

Crigler-Najjar syndrome is a rare genetic disorder characterized by an inability to properly convert and clear bilirubin from the body.The hallmark finding of Crigler-Najjar syndrome is a persistent yellowing of the skin, mucous membranes and whites of the eyes (jaundice).There are two forms of this disorder: Crigler-Najjar syndrome type I, characterized by a nearly complete lack of enzyme activity and severe, even life-threatening symptoms| and Crigler-Najjar syndrome type II, characterized by partial enzyme activity and milder symptoms. Both forms are inherited as autosomal recessive traits and are caused by errors or disruptions (mutations) of the UGT1A1 gene.The symptoms of Crigler-Najjar syndrome type I become apparent shortly after birth. Affected infants develop severe, persistent yellowing of the skin, mucous membranes and whites of the eyes (jaundice). These symptoms persist after the first three weeks of life.Infants are at risk for developing kernicterus, also known as bilirubin encephalopathy, within the first month of life.Crigler-Najjar syndrome type II is a milder disorder than type I. Affected infants develop jaundice, which increases during times when an infant is sick (concurrent illness), has not eaten for an extended period (prolonged fasting) or is under general anaesthesia. Some people have not been diagnosed until they are adults. Kernicterus is rare in Crigler-Najjar syndrome type II, but can occur especially when an affected individual is sick, not eating or under anaesthesia

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.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by intestinal hamartomatous polyps in association with a distinct pattern of skin and mucosal macular melanin deposition (freckles on the lips, face, palms and soles). Patients with Peutz-Jeghers syndrome have an estimated 15-fold increased risk of developing intestinal cancer compared to the general population.Management: conservative unless complications develop.

The prompt is suggestive of acute appendicitis. The Alvarado score is a clinical scoring system used to determine the likelihood of appendicitis, so this is the correct answer. A score greater than 6 is generally considered at risk for having acute appendicitis. It has 8 different criteria included (symptoms, signs, and lab results) and divides patients into appendicitis unlikely, possible, probable, and definite. The Center Score is a score to access the likelihood that pharyngitis is due to Strep. The Child-Pugh score predicts prognosis in liver cirrhosis. The Glasgow score is two different scores– the Glasgow coma score in trauma, which estimates level of consciousness, essentially, and The Glasgow Imrie Criteria which determines the severity of acute pancreatitis based on 8 lab values. The MELD score predicts the severity of end-stage liver disease.

Breast milk jaundice is associated with breast-feeding. It typically occurs one week after birth and can sometimes last up to 12 weeks, but it rarely causes complications in healthy, breast-fed infants. The exact cause of breast milk jaundice isn’t known. However, it may be linked to a substance in the breast milk that prevents certain proteins in the infant’s liver from breaking down bilirubin. The condition may also run in families. Breast milk jaundice is rare, affecting less than 3 percent of infants. When it does occur, it usually doesn’t cause any problems and eventually goes away on its own. It is safe to continue breast-feeding.

The patient has bloody diarrhoea that sounds like a food poisoning in the clinical scenario. Campylobacter is the most common cause of this in the United Kingdom. This is then followed by Salmonella and Shigella. The symptoms are usually self limiting. This is more likely to be bacterial from the food than a viral gastroenteritis.

The signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the metaphysis, especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.

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.

The most probable diagnosis for this patient would be Crohn’s disease.Crohn’s disease:An inflammatory bowel disease which can affect any part of the bowel from the mouth to the anus. Symptoms include abdominal pain, diarrhoea, pyrexia and weight loss. Extra-intestinal manifestations include arthritis, uveitis, fatigue, anaemia and rashes including pyoderma gangrenosum and erythema nodosum.Other options:- Anorexia nervosa is an important diagnosis to consider. There are no indicators in the description that she has a fear of gaining weight or a strong desire to be thin.- Diabetic ketoacidosis is incorrect because there is no polydipsia or polyuria. A patient in DKA is more likely to present with vomiting and not diarrhoea.- Recurrent aphthous stomatitis is not a correct answer because it does not explain all of the symptoms described, only the mouth ulcers.- Ulcerative colitis (UC) is also incorrect. UC is a form of inflammatory bowel disease that causes inflammation in the colon. The main symptom is bloody stools, which is not mentioned as a feature in history.

The most probable diagnosis for this patient would be congenital hypertrophic pyloric stenosis.Congenital Hypertrophic Pyloric Stenosis (CHPS):Pyloric stenosis should be ruled out in any baby who presents with a long-term history of vomiting and failure to thrive. Infants typically present with projectile, non-bilious vomiting and are said to be hungry and wanting to feed despite poor weight gain. A blood gas would be helpful in this instance, although the diagnosis can be made more accurately by observing the stenosis during ultrasound. Many infants have symptoms of gastroesophageal reflux disease, although only a small minority are unable to gain weight adequately. A UTI in infants can present with non-specific symptoms, but they might have a fever and can show poor feeding. Malrotation will present with bilious vomiting.The definitive surgical management is the Ramsteadt’s pyloromyotomy.

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.

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

Children are very prone to dehydration during an episode of gastroenteritis. Dehydration is detected early by increased capillary filling time.

Intussusception is an urgent condition that must be excluded first as it may lead to life-threatening complications.

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.

Based on the clinical scenario, the most probable diagnosis for this patient is pancreatitis.Although rare in childhood, the presence of abdominal pain radiating to the back with shock and tachycardia, and a raised amylase, should raise a suspicion of pancreatitis. Possible causes include trauma, drugs, viral illness, mumps, hyperparathyroidism, hyperlipidaemia and cystic fibrosis. Other options:- Normal LFTs in this patient make hepatitis unlikely. – Gastroenteritis with severe diarrhoea and vomiting may account for the shock and tachycardia, but guarding on abdominal examination and the raised amylase would not be explained by gastroenteritis. – Pregnancy is an important diagnosis to consider in an adolescent with abdominal pain, but the raised amylase and other features point to a diagnosis of pancreatitis.

Polycythaemia is a condition in which there is an increased red cell mass and increasing blood viscosity, which decreases its ability to flow. It is not associated with food allergies, but is fundamentally caused by either an overproduction of red blood cells, or a reduction in the volume of plasma. Abdominal pain, constipation, loose and frequent stools, and pallor are all non IGE mediated symptoms of food allergy according to NICE guidelines in the UK.

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.

Hirschsprung’s disease is characterized by congenital absence of the autonomic plexus (Meissner’s and Auerbach’s plexus) in the intestinal wall. Usually limited to the distal colon, it can occasionally involve the entire colon or even the small bowel. There is abnormal or absent peristalsis in the affected segment, resulting in continuous spasm of smooth muscle and partial/complete obstruction. This causes accumulation of intestinal contents and dilatation of proximal segment. Skip lesions are highly uncommon. This disease is seen early in life with 15% patients presenting in first month, 60% by 1 year of age and 85% by the age of 4 years. Symptoms include severe and complete constipation, abdominal distension and vomiting. Patients with involvement of ultra-short segments might have mild constipation with intervening diarrhoea. In older children, symptoms include failure to thrive, anorexia, and lack of an urge to defecate. On examination, an empty rectum is revealed with stool palpable high up in the colon. If not diagnosed in time, it can lead to Hirschsprung’s enterocolitis (toxic megacolon), which can be fulminant and lead to death. Diagnosis involves a barium enema or a rectal suction biopsy. Barium enema shows a transition in diameter between the dilated, normal colon proximal to the narrowed, affected distal segment. It is to be noted that barium enema should be done without prior preparation, which can dilate the abnormal segment, leading to a false-negative result. A 24-hour post-evacuation film can be obtained in the neonatal period – if the colon is still filled with barium, there is a high likelihood of Hirschsprung’s disease. Full-thickness rectal biopsy is diagnostic by showing the absence of ganglion cells. Acetylcholinesterase staining can be done to highlight the enlarged nerve trunks. Abnormal innervation can also be demonstrated by rectal manometry.

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 initial symptoms of spasmodic abdominal pain, rectal bleeding and vomiting might point towards intussusception, but the peak incidence is in children aged 6–9 months. Considering that this child has additional symptoms of haematuria, proteinuria and a purpuric rash, it is more likely that the child has Henoch–Schönlein purpura (HSP). HSP is an identifiable cause of intussusception. It is an IgA-mediated, autoimmune hypersensitivity vasculitis that targets the small vessels of the skin, GI tract, kidneys, and joints. It is most commonly seen in children aged 3 – 6years and is twice as common in boys than girls. Preceding viral URTI with low-grade pyrexia is common. The most common organism associated with HSP is, however, Group A streptococcal infection. A purpuric rash is seen on the back of the legs and buttocks and can less frequently, affect the arms. Arthralgia is common (usually knees/ankles) in these patients. Abdominal pain and bloody diarrhoea may occur. And half of the children with HSP have renal involvement. Rarely, it can lead to end-stage renal failure. Treatment includes adequate hydration, occasionally steroids, and other immunosuppressants. The disease can recur in 1 in 3 children.

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’.

Pale, bulky, malodorous stools are evidence of fat malabsorption syndrome. The diagnostic test is jejunal biopsy to rule out other differential diagnoses such as celiac disease, giardiasis or Crohn’s disease etc.

A minority of affected individuals may experience severe liver failure. This happens most frequently in people with Wilson’s disease during adolescence and more commonly in women. These individuals may rapidly develop signs and symptoms of liver disease, often associated with anaemia due to breakdown of red blood cells (haemolysis) and mental confusion. In some patients, liver disease does not reveal itself, and the patient develops neurologic (brain-related) symptoms. Common neurological symptoms of Wilson disease that may appear and progress with time include tremor, involuntary movements, difficulty swallowing (dysphagia), difficulty speaking and poor articulation (dysarthria), lack of coordination, spasticity, dystonic postures, and muscle rigidity. Almost all affected individuals with the neurological symptoms of Wilson’s disease have Kayser-Fleischer rings in their eyes that can be identified by a slit lamp examination.

The main problem with infants having gastroenteritis is dehydration. So they should be admitted to the hospital for IV fluids if they are not tolerating oral fluids.

Laxatives have been shown to be beneficial in the treatment of chronic childhood constipation. Studies have shown that polyethylene glycol, mineral oil, magnesium hydroxide, and lactulose are effective and can be used for a prolonged periods without risk.

Fluid replacement therapy should be initiated immediately because the patient is suffering from severe dehydration as shown by the low urine output, the dry mucous membranes and the low skin turgor.

European guidelines suggest that triple therapy for 1 week is acceptable and sufficient for H. pylori eradication. Although triple therapy for 2 weeks might have higher therapeutic rates, it also carries a higher risk of side effects. Triple therapy includes amoxicillin and clarithromycin and a proton-pump inhibitor, usually omeprazole.