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.

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.

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

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.

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.

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.

Hypertrophic villi is a response to chronic irritation by allergic reactions

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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 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

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.

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.

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.

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.

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.

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.

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.

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.

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’.

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).

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.