Hirschsprung's Disease: Diagnosis and Treatment

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Questions and Answers

In Hirschsprung's disease, what characterizes the aganglionic segment?

  • It contains calcifications.
  • It is contracted. (correct)
  • It is the most common site for diverticula.
  • It is dilated.

For which condition is Duhamel's operation performed?

  • Imperforate anus
  • Hirschsprung's disease (correct)
  • Meconium ileus
  • Annular pancreas

What diagnostic method is most effective for confirming Hirschsprung's disease?

  • Anal manometry
  • MRI
  • Rectal biopsy (correct)
  • CT scan

Which statement is NOT a typical characteristic of Hirschsprung's disease?

<p>Autosomal dominant inheritance (B)</p> Signup and view all the answers

In Hirschsprung's disease, where is the aganglionic segment typically located in relation to the dilated segment?

<p>Distal to the dilated segment (D)</p> Signup and view all the answers

Which part of the intestine is affected in Hirschsprung's disease?

<p>Colon (D)</p> Signup and view all the answers

What is the appropriate initial treatment for a child diagnosed with short-segment Hirschsprung's disease who has minimal symptoms?

<p>Conservative treatment (A)</p> Signup and view all the answers

What finding indicates the absence of ganglion cells in the myenteric plexus?

<p>Hirschsprung's disease (C)</p> Signup and view all the answers

A newborn shows signs of a bloated abdomen and delayed meconium passage. A full-thickness rectal biopsy is performed. Which result would confirm Hirschsprung's disease?

<p>Lack of ganglion cells (D)</p> Signup and view all the answers

Why is normal saline preferred over other fluids when performing rectal washouts for Hirschsprung's disease?

<p>Normal saline is an isotonic solution. (D)</p> Signup and view all the answers

A 3-year-old child with constipation and abdominal distension has a transition zone at the recto-sigmoid junction on barium enema. What is the most probable diagnosis?

<p>Hirschsprung's disease (D)</p> Signup and view all the answers

A patient is diagnosed with colovesical fistula. What is the most common presenting symptom?

<p>Pneumaturia (C)</p> Signup and view all the answers

A 40-year-old patient with mild abdominal pain, constipation, incomplete evacuation and mucus in stools has tenderness in the left iliac fossa. What is the most likely diagnosis?

<p>Diverticular disease of colon (B)</p> Signup and view all the answers

What barium enema finding is typical for colonic diverticula?

<p>Characteristic appearance (C)</p> Signup and view all the answers

A patient with acute diverticulitis of the colon undergoes sigmoidoscopy. What finding is most indicative of this condition?

<p>Saw toothed appearance (A)</p> Signup and view all the answers

For which condition is a "Hinchey classification" system is clinically relevant?

<p>Complicated diverticulitis (C)</p> Signup and view all the answers

According to Hagitt's classification, what level describes a polyp that invades the submucosa of the bowel wall below the stalk?

<p>Level 4 (A)</p> Signup and view all the answers

Which of the following is least associated with increased GI malignancy risk:

<p>Cowden's syndrome (D)</p> Signup and view all the answers

Which of the following is true regarding colon cancers:

<p>Metachronous tumors percentage (D)</p> Signup and view all the answers

In what type of carcinoma is metastasis (hence prognosis) related?

<p>Depth of invasion (D)</p> Signup and view all the answers

Flashcards

Hirschsprung's disease

Aganglionic segment is contracted, not dilated.

Duhamel's operation

Done for Hirschsprung's disease.

Diagnosing Hirschsprung's disease

Rectal biopsy is the best diagnostic method.

Hirschsprung's genetics

Autosomal dominant is NOT true.

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Aganglionic segment location

Distal to the dilated segment in Hirschsprung's.

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Affected intestine in Hirschsprung's

Involves the colon.

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Hirschsprung's tx w/ minimal symptoms

Extended myectomy is the treatment of choice.

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Best investigation method

Rectal biopsy is the investigation of choice.

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Congenital megacolon statements

Dilatation and hypertrophy of the pelvic colon, Loud borborygmi, symptoms appear within 3 days following birth and large stool.

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Aganglionic segment appearance

Normal or contracted is the aganglionic segment in Hirschsprung's.

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Most common cause for fecal soiling in children

Chronic constipation.

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Myenteric plexus issue

Absence of ganglion cells in myenteric plexus is seen in Hirschsprung's disease.

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Likely rectal biopsy finding

Lack of ganglion cells

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Procedures done for Hirschsprung's

Bayar's.

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Rectal washouts fluid

Normal saline - 0.9% NaCl

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Congenital megacolon features

Failure to thrive, Large bulky stools, Tight anal ring, and Pseudodiarrhoea

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Treating Hirschsprung's

Excision of aganglionic segment.

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Probable diagnosis

Hirschsprung's disease.

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Most common presentation

Abdominal distention.

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Acquired diverticula most found

Sigmoid colon

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Study Notes

Hirschsprung's Disease

  • The aganglionic segment is contracted, not dilated
  • Descending colon is not the most common site of aganglionosis
  • Barium enema can be diagnostic
  • Seen only in infants and children
  • Barium enema does not show calcification
  • Duhamel's operation is completed for Hirschsprung's disease
  • Best diagnosed by rectal biopsy
  • Not autosomal dominant
  • Absent ganglionic cells are found in both myenteric and submucous plexus
  • Rectal biopsy is diagnostic
  • The aganglionic segment is distal to the dilated segment
  • Involves the rectosigmoid part of the intestine
  • Extended myectomy is appropriate for short segment Hirschsprung's disease with minimal symptoms
  • Rectal biopsy is the investigation of choice
  • Congenital megacolon includes dilatation and hypertrophy of the pelvic colon, and loud borborygmi; symptoms appear soon after birth, but not large stool
  • Aganglionic segment is normal or contracted
  • Chronic constipation is the predominant cause of fecal soiling in children
  • Absence of ganglion in myenteric plexus is seen in Hirschsprung's disease
  • Rectal biopsy findings likely to show lack of ganglion cells in a newborn with a bloated abdomen and scant meconium passage.
  • All of the procedures except Bayar's are done for correction
  • Normal saline is used for rectal washouts
  • Large bulky stools aren't features of congenital megacolon
  • Excision of aganglionic segment treats Hirschsprung's
  • Most probable diagnosis for a child with constipation, abdominal distension, and a transition zone at the recto-sigmoid junction through barium enema study is Hirschsprung's
  • Abdominal distention is the most common presentation

Colonic Diverticula

  • Sigmoid colon is the most common site for acquired diverticula
  • Commonly presents with pneumaturia
  • Diverticular disease of the colon can cause abdominal pain, constipation, and mucus in stools
  • Barium enema best diagnoses colonic diverticulosis
  • Barium enema in colonic diverticula appears distinct
  • Superior Mesenteric Artery is frequently implicated in massive bleeds
  • Mucosa is inflamed in acute diverticulitis of the colon
  • Diverticular disease is rarely observed in the jejunum
  • Fistulization is an emergency relating to acute diverticulitis
  • Ascending colon is where it most commonly bleeds
  • The term "Left sided appendicitis" indicates diverticulitis
  • A obese patient with diverticular perforation is best treated by Hartman's procedure
  • Barium enema is the best investigation for colonic diverticulitis
  • Hinchey classification identifies complicated diverticulitis

Colorectal Polyps

  • Polyp invading neck in between head and stalk is level 2 based on Hagitt's classification
  • Cowden's syndrome is not a predisposing factor for colorectal carcinoma
  • Adenomatous polyps have the potential to grow into cancer
  • Potentially malignant intestinal polyps except Crohn's disease
  • Peutz-Jegher's syndrome is not associated with GI malignancy
  • Pedunculated polyps aren't risk factors for malignancy
  • Hamartomatous polyps are likely diagnosis for a child post operation after intussusception
  • Carcinoma of the colon occurs in all patients with familial adenomatous polyposis.
  • Double-contrast barium enema is the best radiological method for diagnosing colonic polyps
  • Sessile polyps are high malignant potential
  • Villous adenoma is maximum in malignancy
  • Polyps of familial polyposis coli exhibit malignant change

Familial Adenomatous Polyposis

  • Juvenile polyposis syndrome isn't neoplastic
  • Pigmented macules, anemia, and abdominal pain signify Peutz-Jegher's
  • Familial polyposis coli is strongly correlated with colorectal cancer
  • Prophylactic polypectomy is done is familial polyposis
  • Multiple flat polyps indicate potential malignancy
  • Peutz-Jegher's syndrome is the most probable diagnosis given presentation
  • AR inheritance isn't true of Familial Adenomatous Polyposis
  • Juvenile polyp is MC type of polyp is children
  • The Metabolic abnormality seen in large colorectal villous adenoma is Hypokalemic metabolic alkalosis
  • 100 polyps isn't required for diagnosis

  • CA pancreas is most common associated cancer in FAP
  • Duodenal adenoma is true about FAP
  • Desmoid tumor isn't all the given syndromes
  • Hamartomatous polyp isn't all associated with FAP syndrome
  • Colon polyps, osteomas, and giant gastric folds don't fit familial polyposis
  • Duodenal polyps don't fit the syndromes
  • Flexible sigmoidoscopy is the next screening test

Hereditary Non-Polyposis Colon Cancer

  • HNPCC known as Lynch syndrome
  • cutaneous sebaceous adenomas are seen in Muir-Torre syndrome.
  • Amsterdam criteria exclude FAP: At least three relatives should be affected. Two successive generations need to be affected. And all the three should be first degree relative
  • CA stomach is the most common extra-intestinal malignancy in HNPCC: Bony exostosis, multiple epidermal cyst all fit hereditary polyposis colon
  • MSH-2 and hMLH-1are The most common mismatch repair gene mutation in HNPCC are Ulcerative colitis Familial polyposis isn't premalignant

Carcinoma Colon

  • APC isn't involved The Right sided colon carcinoma and hepatic cancer isn't due to Cholecystectomy commonly undergoes malignancy commonly undergoes malignant transformation
  • Sigmoid is the most common site
  • Left isn't Constricting type of colonic
  • colic Right is a frequent symptom
  • Right colon is of the Fungating type
  • Left side of the colon presents anemia
  • Liver Solitary presentation isn't surgery
  • Sigmoid is involved On barium enema
  • CEA metastasize is frequent
  • 1% isn't true about colon
  • Acceptable Colonoscopy recurrence
  • Nodal is most of colon
  • Metastases tumour tendency
  • tumor side associate individuals
  • Sigmoid side of tenesmus colon
  • is by Colonoscopy for polyps

Carcinoma Colon Treatment

  • The perforations of colon is Caecum
  • Right mass symptoms are ascend type
  • Three nodes represent
  • IIIC M1MO Stage is the right classification
  • Hartman’s procedure is used for older Obstruct
  • Hartman, Right, , is not an option for colon options
  • The bowel Mechanical spectrum colon
  • Resection metastasize
  • Washing in and isn't true

Colonic Ischemia

  • Thumb Diverticulitis for printing
  • Inhibit large most in needed for colon
  • Colitis not often involved
  • Is most accurate, is not for . most
  • Accordion, Metrois not for colon is .

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