Malabsorption Syndrome, Pediatric Gastroenterology & MALT-oma - Free MCQ

The image reveals the occurrence of cheilosis, glossitis, and circumcorneal vascularisation. This indicates a deficiency in riboflavin. The suggested test is to measure RBC glutathione reductase levels.

The primary complication associated with celiac sprue is the emergence of both intestinal and non-intestinal cancers, as well as lymphomas. The complications of celiac sprue include:
Complications of celiac sprue:

• Intestinal neoplasms/lymphoma
• Refractory sprue
• Collagenous sprue

Tropical sprue is associated with:

• Dermatitis herpetiformis
• Type 1 diabetes mellitus
• IgA deficiency
• Down syndrome
• Turner syndrome

The causes of Protein losing enteropathy can be classified into three groups:

• Tissue transglutaminase IgA
• Endomysial IgA
• Reticulin IgA

• Iron absorption occurs in duodenum which is affected in sprue.
• Due to fat malabsorption steatorrhea and vitamin D deficiency results.
• The symptoms & signs of malabsorption depend upon the length of small intestine involved & the age at which the patient presents.
• Infants (< 2 years) are more likely to present with typical symptoms of malabsorption, including diarrhea, weight loss, abdominal distention, weakness, muscle wasting, or growth retardation.
• However, they may also be watery and frequent in number (up to 10 - 12 daily).
• Most patients report chronic diarrhea or flatulence due to colonic bacterial digestion of mal- absorbed nutrients, but the severity of weight loss is variable.

• Serological blood tests are the first-line investigation required to make a diagnosis of coeliac disease.
• Anti-endomysial antibodies of the immuno-globulin A (IgA) type can detect coeliac disease with a sensitivity and specificity of 90% and 99%, respectively.
• Serology for anli-T.T.G antibodies was initially reported to have a higher sensitivity (99%) and specificity (> 90%) for identifying coeliac disease.
• Modern anti-tTG assays rely on a human recombinant protein as an antigen. tTG testing should be done first as it is an easier test to perform.

• Polysaccharides need enzymes, like amylase, to be broken down into monosaccharides for absorption.

• Small intestinal bacterial overgrowth
• Whipple's disease

Obstruction of lymphatics for any reason can lead to increased pressure throughout the lymphatic system of the gastrointestinal (GI) tract. This causes lymph to stagnate and, if the pressure becomes sufficiently elevated, results in the escape of lymphatic fluid that is abundant in albumin and other proteins from the lacteals in the intestinal microvilli into the GI tract lumen. If the loss of albumin surpasses the synthesis rate, hypoalbuminaemia, and ultimately, oedema, occur. Moreover, along with albumin, other crucial components of lymph are also released into the bowel, such as:

• lymphocytes
• immunoglobulins
• hydrophobic molecules, including cholesterol
• lipids
• fat-soluble vitamins

Alpha-1-antitrypsin (α-1-AT) is synthesised by the liver, intestinal macrophages, monocytes, and the mucous membrane cells in the gut. It is classified as an acute phase protein and is among the most significant proteinase inhibitors.

• α-1-AT inhibits various proteinases, including trypsin and the elastase produced by neutrophils.
• Only a minimal quantity of α-1-AT is either cleaved or absorbed in the gut.

Consequently, measuring α-1-AT levels in stool indicates the gut's permeability during inflammatory conditions.

• Abetalipoproteinemia, or Bassen-Kornzweig syndrome,is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food.
• It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively.
• On intestinal biopsy, vacuoles containing lipids are seen in enterocytes. This disorder may also result in fat accumulation in the liver (hepatic steatosis). Because the epithelial cells of the bowel lack the ability to place fats into chylomicrons, lipids accumulate at the surface of the cell, crowding the functions that are necessary for proper absorption.

Small intestinal mucosal biopsy is not pathognomonic and mimics fundings of celiac spreua.

The presence of anti-endomyosial A/b is 90-05%.

The proximal section of the gut plays a more significant role in celiac sprue than the distal section. Therefore, vitamin B₁₂ levels are seldom low. Due to considerable damage to the duodenum and jejunum, deficiencies in iron and folic acid are prevalent. Vitamin A deficiency may arise in celiac disease through several mechanisms:

• Upper digestive issues, such as insufficient stomach acid, can hinder the release of vitamin A from food sources.
• Protein deficiency disrupts the absorption process across the intestinal lining.
• Fat malabsorption affects the uptake of vitamin A into the lymphatic system.

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Malabsorption syndrome occurs when the body cannot absorb nutrients properly. Here are the main causes that can lead to this condition:

• Parasite infestation: Certain parasites can interfere with nutrient absorption.
• Small bowel diverticulae: These are pouches that can form in the small intestine and may affect absorption.
• Post gastrectomy: Surgery to remove part of the stomach can lead to difficulty in absorbing nutrients.

However, anterior resection of the colon typically does not cause malabsorption syndrome. This surgery mainly involves removing part of the colon but does not significantly impact the small intestine’s ability to absorb nutrients.

Nontropical sprue is alternative terminology to describe celiac sprue.
In non-tropical sprue (and to a lesser degree in tropical sprue), microscopic examination of the jejunum reveals

1. Blunting or absence of the villi
2. Substitution of cuboidal for columnar surface cells
3. Infiltration of the lamina propria with lymphocytes and plasma cells
4. Increased mitotic activity in the crypts of the unusually deep intestinal glands.

(The damage would lead to mal-absorption of carbohydrates and lipids).

Non-bilious vomiting is the first sign of pyloric stenosis. Choice B is incorrect. The vomiting may initially be non-projectile but typically becomes progressive, occurring immediately after a feed. In healthy infants, feeding can assist in diagnosis.

• After feeding, a visible gastric peristaltic wave may advance across the abdomen.

Choice A is accurate. Diagnosis has traditionally been made by feeling for the pyloric mass. Choice C is also correct. The mass is firm, movable, approximately 2 cm long, olive-shaped, hard, and best palpated from the left side, located above and to the right of the umbilicus in the mid epigastrium beneath the liver's edge. After the infant vomits, the abdominal muscles are more relaxed, making the 'olive' easier to feel. Vomiting typically begins after 3 weeks of age, although symptoms can arise as early as the 1st week of life or as late as the 5th month. As vomiting persists, there is a progressive loss of fluid, hydrogen ions, and chloride, resulting in hypochloraemic metabolic alkalosis.

Observe the air-filled loops of intestine in the left lung. Respiratory distress is a significant indicator in infants with congenital diaphragmatic hernia (CDH). This condition may manifest immediately, or there could be a 'honeymoon' phase lasting up to 48 hours during which the infant appears relatively stable. Early onset of respiratory distress within the first 6 hours of life is considered a negative prognostic sign.

• The clinical manifestations of respiratory distress include tachypnoea, grunting, utilisation of accessory muscles, and cyanosis.
• Children diagnosed with CDH will typically present with a scaphoid abdomen and an enlarged chest wall diameter.
• Bowel sounds may also be audible in the chest alongside diminished breath sounds bilaterally.

The Bell system is the most widely utilised staging system for describing necrotising enterocolitis (NEC). It categorises the disease as follows:

• Stage IIA: presents with ileus and pneumatosis intestinalis.
• Stage IIB: indicates the presence of portal vein gas.
• Stage IIIA: exhibits characteristics of stage IIB in addition to ascites.

Infantile hypertrophic pyloric stenosis (IHPS) is a condition that affects infants, causing severe vomiting and dehydration. One of the drugs linked to this condition is erythromycin.
Here are some key points regarding this association:

• Erythromycin is an antibiotic commonly used to treat infections.
• It can lead to gastrointestinal issues in infants, including IHPS.
• Recognising the symptoms early is vital for effective treatment.

Other medications like lithium, warfarin, and carbimazole are not associated with this condition.

Helicobacter pylori is classified as a type A carcinogen linked to the development of mucosa-associated lymphoid tumour. The primary treatment modality for gastric MALTomas involves using a proton pump inhibitor (PPI) along with antibiotics to eliminate H. pylori.

• Utilising a combination of amoxicillin, clarithromycin, and PPIs achieves eradication rates of 90%.
• This combination leads to the regression of low-grade MALToma.

Traditional monotherapy regimens for MALTomas have included chlorambucil, cyclophosphamide, or fludarabine. The presence of t(11;18)(q21;q21) translocations has been identified as a predictor of a poor therapeutic response. MALTOMA is classified as a Non-Hodgkin lymphoma of the B cell type.
The median age at presentation is 65 years, and patients often exhibit non-specific features. Early gastric cancer typically presents with no associated symptoms; however, some individuals with incidental complaints are diagnosed with early gastric cancer. The majority of symptoms related to gastric cancer indicate advanced disease.

Most prevalent location of MALT is the ileum. MALT lymphoma can develop in the following areas:

• stomach
• orbit
• intestine
• lung
• thyroid
• salivary gland
• skin
• soft tissues
• bladder
• kidney
• CNS

Gastrointestinal stromal cell tumours (GISTs) were formerly categorised as gastrointestinal leiomyosarcomas and account for 1-3% of gastric neoplasms. Their cell of origin resembles the interstitial cell of Cajal, which regulates peristalsis. The majority of malignant GISTs possess activating mutations in the c-kit gene, resulting in ligand-independent phosphorylation and activation of the KIT receptor tyrosine kinase, which leads to tumour formation.

• These tumours most commonly affect the anterior and posterior walls of the gastric fundus.
• They frequently ulcerate and bleed.
• GISTs seldom invade nearby organs and typically do not metastasise to lymph nodes.
• However, they can spread to the liver and lungs.

The preferred treatment is surgical resection. GISTs do not respond to traditional chemotherapy; however, 50% of patients achieve an objective response and extended survival when treated with imatinib mesylate (Gleevec) (400-800 mg PO daily), a specific inhibitor of the c-kit tyrosine kinase. Many patients whose GISTs have become resistant to imatinib may benefit from sunitinib (Sutent), which is another inhibitor of the c-kit tyrosine kinase.