THG17-001
A 5-year-old boy brought with complaints of vomiting; vomitus contained fresh blood along with clots. No history of similar episodes in the past. No history of hospital admissions in the past.
a. Identify the finding on ultrasound abdomen in given image.
b. What is the diagnosis?
c. What is the common clinical presentation?
d. How will you manage the child if he comes with this presentation?
Answer
| a. | Cavernomatous transformation of portal vein—portal cavernoma |
| b. | Extrahepatic portal venous obstruction |
| c. | Sudden onset of unprovoked painless recurrent gastrointestinal (GI) bleeding usually a major bleed and is well tolerated without signs of decompensation like ascites, encephalopathy. |
| d. | Management of acute variceal bleed with hemodynamic stabilization, use of vasopressors, and endotherapy namely variceal band ligation or sclerotherapy depending upon the size of varices. |
THG17-002
A 10-year-old boy presented with intermittent episodes of nocturnal regurgitation and difficulty in swallowing for 1 year duration. Clinical examination was unremarkable. Esophageal manometry (as shown in image) was done.
a. What are the findings?
b. What is the diagnosis?
c. Name the modalities of treatment.
Answer
| a. | Hypertensive lower esophageal sphincter pressure with absent or inadequate relaxation and failed esophageal body peristalsis |
| b. | The diagnosis is achalasia cardia. |
| c. | Modalities of treatment: (i) Drugs—calcium channel blockers; (ii) Endotherapy—pneumatic balloon dilatation, botulinum injection, peroral endoscopic myotomy (POEM); (iii) Surgery—Heller myotomy |
THG17-003
A 14-year-old boy presented in OPD with abdominal distension, bilateral pedal edema, and firm hepatomegaly and splenomegaly. Examination of the eye showed the finding (as shown in image).
a. What is the finding in image given?
b. What is the likely diagnosis?
c. What are the other tests done to diagnosis this condition?
d. What are the drugs used to treat this?
Answer
| a. | Pigmented ring around the cornea is seen—probably Kayser–Fleischer (KF) ring. |
| b. | Likely diagnosis—Wilson’s disease |
| c. | Other tests—serum ceruloplasmin, 24 urinary copper estimation and liver histology |
| d. | D-penicillamine, trientine, and zinc along with avoidance of copper-containing diet |
THG17-004
A 12-year-old male presented with recurrent episodes of upper abdominal pain, aggravated by food and radiation to back of 4 years duration. Clinically, he was thin built and the abdominal plain X-ray (as shown in image) showed the finding.
a. What is the diagnosis?
b. Write the X-ray finding.
c. What are the important complications?
Answer
| a. | Chronic pancreatitis |
| b. | X-ray shows radiopaque calcification crossing the midline |
| c. | Exocrine insufficiency—steatorrhea and endocrine insufficiency—diabetes mellitus, malnutrition, and rarely pancreatic cancer |
THG17-005
A 14-year-old boy from Rajasthan presented with recurrent episodes of loose stools with fatigability of 2 years duration. His endoscopy showed scalloping of duodenal folds.
a. What is the likely diagnosis?
b. What are the serological tests done?
c. What will be findings on histology?
d. How will you treat?
Answer
| a. | Celiac disease |
| b. | Tissue transglutaminase test, antiendomysial antibody and antigliadin antibody test |
| c. | Flattening of villi, crypt hyperplasia, and lymphocyte infiltrate in lamina propria and increased intraepithelial lymphocytes |
| d. | Lifelong strict adherence to gluten-free diet |
THG17-006
A 15-year-old girl presented with passing hard stools associated with bleeding per rectum. She also gave history of digital evacuation.
a. What is the probable diagnosis?
b. What will the finding on colonoscopy?
c. How will you treat?
Answer
| a. | Solitary rectal ulcer syndrome |
| b. | Ulcer will be seen usually within 10 cm of rectum on the anterior wall and can be multiple and sometimes even polypoidal like. |
| c. | Laxatives, high-fiber diet, and if bleeding sucralfate enema, Argon plasma coagulation (APC) therapy, and rarely surgery |
THG17-007
A 42-day-old male infant who had an uneventful natal and postnatal period, now brought with jaundice, high-colored urine staining the diaper and passing clay-colored stools. On examination, child is alert, hepatomegaly present, no ascites, and no features of coagulopathy.
a. What is the most likely diagnosis?
b. When to suspect it on a USG abdomen?
c. What is the gold standard test?
d. How will you manage?
Answer
| a. | Neonatal cholestasis syndrome—most likely biliary atresia |
| b. | Atretic or small or absent gallbladder on milk-free diet, presence of 4 mm foci seen at porta anterior to right branch of portal vein, triangular cord sign, other associated anomalies like polysplenia or asplenia, situs inversus if present one can suspect. |
| c. | Peroperative cholangiogram with liver biopsy |
| d. | Supportive therapy with injection vitamin A, D, E, K supplementation, nutrition, and definitive therapy includes surgery—Kasai portoenterostomy and for end stage liver disease liver transplant. |
THG17-008
A 9-month-old infant brought to emergency room (ER) with incessant cry, irritability, and passage of blood in stool of 1 day duration. Ultrasonography (USG) of abdomen has been shown this image.
a. What is the diagnosis and clinical triad?
b. What is the USG finding shown in the above image?
c. What is the management?
d. What are the important complications?
Answer
| a. | Intussusception and the triad consist of paroxysmal abdominal pain, bloody stools, and vomiting |
| b. | Target sign |
| c. | Nonsurgical methods such as pneumatic or hydrostatic reduction |
| d. | Gangrene, perforation of bowel, and peritonitis |
THG17-009
A 2-year-old child presented with who has a history of delayed passage of meconium, now brought with constipation intermittently with occasional blood in the stools and failure to thrive?
a. What is the probable diagnosis?
b. How will you investigate?
c. How will you treat?
Answer
| a. | Likely diagnosis is Hirschsprung disease |
b. i. Clinical examination: On per rectal examination, rectum will be empty with gush of feces.
| ii. | Barium enema: It shows proximal dilatation with narrow spastic segments any transition zone. |
| c. | Surgical methods such as Duhamel pull-through |
THG17-010
An 8-year-old boy presented with recurrent episodes of colicky abdominal pain with passage of loose stools and vomiting and weight loss of 6 months duration.
a. Name at least two differential diagnoses.
b. When to suspect Crohn’s disease on magnetic resonance enterography?
c. What are the extraintestinal manifestations (EIMs) in Crohn’s disease?
d. When to use biological agents in Crohn’s disease?
Answer
| a. | Intestinal tuberculosis, Crohn’s disease, and gastrointestinal lymphoma |
| b. | Presence of skip lesion, strictures, mural thickening with enhancement, and creeping pad of mesenteric fat are more in favor of Crohn's disease |
| c. | EIM: Oral ulcers, episcleritis, pyoderma gangrenosum, erythema nodosum, perianal skin lesions, abscess, and arthritis |
| d. | Biologicals: Fistulizing type and penetrating disease |
THG17-011
A 4-year-old infant was brought with recurrent episodes of abdominal pain. On examination, he had a palpable mass in the right hypochondrium.
a. What is the most probable diagnosis?
b. What are the clinical presentations?
c. How will you classify?
d. What is the treatment?
Answer
| a. | Probable choledochal cyst |
| b. | (i) Asymptomatic, (ii) recurrent abdominal pain, (iii) obstructive jaundice with or without cholangitis, (iv) pancreatitis, and (v) with or without abdominal mass |
| c. | Classification of choledochal cyst: Type IA—cystic dilatation of the extrahepatic duct. Type IB—focal segmental dilatation of the extrahepatic duct. Type IC—fusiform dilatation of the entire extrahepatic bile duct. Type II—simple diverticula of the common bile duct. Type III—cyst/choledochocele distal intramural dilatation of the common bile duct within the duodenal wall. Type IVA—combined intrahepatic and extrahepatic duct dilatation. Type IVB—multiple extrahepatic bile duct dilatations. Type V/Caroli disease—multiple intrahepatic bile duct dilatation. |
| d. | Surgical excision |
THG17-012
A 2-year-old child born of second-degree consanguineous marriage was brought with loose stools on and off from 6 months of age. His birth weight was 2.7 kg. Clinically, the child was weighing 7.5 kg with bilateral pedal edema. What is the probable diagnosis?
a. What is the role of peripheral smear?
b. How clinical examination is important.
c. What will be the finding in small bowel biopsy?
d. How will you manage?
Answer
| a. | Anemia—microcytic or macrocytic anemia, thrombocytosis in inflammatory bowel disease, eosinophilia in eosinophilic enteritis, lymphopenia in intestinal lymphangiectasia, and acanthocytes in abetalipoproteinemia. |
| b. | If hemihypertrophy/vascular malformations are seen, Klippel-Trenaunay syndrome should be considered. |
| c. | Small bowel biopsy: Dilated lacteals indicating intestinal lymphangiectasia |
| d. | Correction of hypoalbuminemia, fat-soluble vitamin supplementation, medium-chain triglycerides, long-acting octreotide, and if localized surgical resection can be done. |
THG17-013
A 2-year-old child was brought with history of foreign body (FB) (one rupee coin) an hour ago.
a. What investigation is to be advised?
b. What are dangerous foreign bodies?
c. What are the clinical signs which warrant immediate removal?
d. How will you manage?
Answer
| a. | Plain X-ray chest with abdomen |
| b. | Sharp foreign bodies, button batteries, and multiple magnets |
| c. | Presence of stridor, drooling of saliva—airway obstruction (medical emergency) |
| Chest pain and dysphagia—impacted FB in esophagus | |
| d. | Endoscopic removal |
THG17-014
An 8-year-old boy brought with intermittent bleeding per rectum (PR) of 6-month duration. Colonoscopy was done. Identify the finding given in image here.
a. Identify the finding?
b. What are the findings expected to be seen in head-to-foot examination?
c. How will you manage this patient?
d. What are the complications?
Answer
| a. | Colonic polyp |
| b. | Anemia: Chronic gastrointestinal blood loss and in inherited polyposis syndrome to look for presence of peroral pigmentation, dental anomalies, bone cysts |
| c. | Endoscopic polypectomy under anesthesia |
| d. | Anemia, bleeding and intussusception |
THG17-015
A 5-year-old female child was brought with recurrent bouts of vomiting of 2 years duration. Clinical examination showed some dehydration.
a. When will you suspect cyclical vomiting syndrome?
b. Name some triggers.
c. How will you treat?
Answer
| a. | It is characterized by severe, recurring, discrete, and stereotypical episodes of vomiting with symptom-free intervals in-between. |
| b. | Triggers: Psychological stress, emotional stress, respiratory infections, foods like chocolates, cheese, hot weather, physical exhaustion, menstruation in adolescent girls, and in some with gut motor disturbances. |
| c. | Evaluation: Ultrasound abdomen, upper GI endoscopy barium contrast radiography, blood urea (BUN), liver function test (LFT), sugar, and electrolytes are done. At present there is no confirmatory or diagnostic test for cyclic vomiting syndrome (CVS) and diagnosis is strictly based on history. |
| Management: |
| • | Principles—to abort acute attack and prevention by avoidance of triggers if identified and prophylactic drugs |
| • | Correction of dehydration, dyselectrolytemia, antiemetics. 5HT agonists |
THG17-016
An 8-month-old infant was brought with streaks of blood in the stools for 1 month duration. Child was introduced to formula feeds and regular milk used in the household since 6 months of age.
a. What is the probable diagnosis?
b. How will you manage?
c. What are the different formulations available?
d. What is FPIES?
Answer
| a. | Cow’s milk protein allergy |
| b. | Elimination of animal milk and milk product in baby’s and mother’s diet |
| c. | If mother milk is inadequate—soy formulae, extensively hydrolyzed formula, and amino acid-based formula |
| d. | FPIES—food protein-induced enterocolitis syndrome |
THG17-017
A 48-hour-old male infant was brought with ER with respiratory distress and drooling of saliva.
a. What is the most probable diagnosis?
b. What is the next step of investigation?
c. How will you treat?
d. What is the long-term complication?
Answer
| a. | Tracheoesophageal fistula |
| b. | Plain X-ray abdomen with nasogastric (NG) tube—coiling of NG tube |
| c. | Surgical correction |
| d. | Anastomotic stricture requiring endoscopic dilatation |
THG17-018
An 8-year-old female child presented with history of ataxia and visual disturbances. Her growth chart shows height and weight below 3rd centile. Her peripheral smear is given below. Identify the finding on peripheral smear (as shown in image).
a. What will be the clinical picture?
b. What will be the finding on intestinal biopsy?
c. What are the long-term complications of the disease?
Answer
| a. | Presence of acanthocytes, can occur in abetalipoproteinemia. |
| b. | Presence of fat droplet at the tip of enterocytes on intestinal biopsy |
| c. | Fat-soluble vitamin supplementation deficiency hypoproteinemia, fatty liver, optic neuritis, and neuro-degeneration |
THG17-019
Q17.19
a. Identify the organism?
b. Who discovered it?
c. Name any two factors responsible for virulence in the organsim.
d. How will you test?
Answer
| a. | Gastric biopsy showing Helicobacter pylori |
| b. | Robert Warren and Barry Marshall |
| c. | Cytotoxin associated gene A (CagA), Vacuolating cytotoxin A (VacA), pathogenic island of organisms |
| d. | Rapid urease test on gastric biopsy, histology, urea breath test, and stool antigen by PCR |
THG17-020
A 4-year-old boy was brought with history of recurrent seizures since infancy. Clinical examination showed hepatomegaly with liver span of 10 cm.
a. When will you suspect glycogen storage disease?
b. How will you differentiate type 1 and 3?
c. How will you manage?
Answer
| a. | Signs and symptoms depend upon the type of glycogen storage disease (GSD) however one must suspect GSD when there is doll-like facies, protuberant abdomen with moderate to massive heptomegaly and recurrent hypoglycemic seizures. |
| Conditions with massive hepatomegaly include glycogen storage disease, congestive hepatopathy, Budd–Chiari syndrome, space occupying lesions, and hepatoblastoma. | |
| b. | Type 1 has profound hypoglycemia, hyperuricemia, hypertriglyceridemia, and renomegaly with normal liver enzymes whereas type 3 hypoglycemia may or may not be there but with elevated liver enzymes and normal serum uric acid and triglyceride levels and muscle involvement. Fibrosis is more common in type 3. |
| c. | If hypoglycemia is severe continuous nighttime nasogastric (NG) feeds, use of uncooked corn starch which can maintain blood sugar levels. |
Figure Sources
All the figures are from author’s personal collection.