DESCRIPTION: | SIGNS AND SYMPTOMS: | CAUSES: | DIFFERENTIAL DIAGNOSIS: | LABORATORY: | PATHOLOGICAL FINDINGS: | SPECIAL TESTS: | IMAGING: | TREATMENT | DRUG(S) OF CHOICE | PRECAUTIONS: | ALTERNATIVE DRUGS: | PATIENT MONITORING: | POSSIBLE COMPLICATIONS: | MISCELLANEOUS
DESCRIPTION: TOP : Congenital disease of the colon, characterized by functional obstruction and accumulation of feces and massive dilatation of colon
System(s) affected: Gastrointestinal, Nervous
Genetics: Familial 50 times base rate. Sometimes associated with Down syndrome.
Incidence/Prevalence in USA: 1 in 2000 to 5000 births (Caucasians 91%, Blacks 8%, Oriental 0.5%)
Predominant age: Infancy
Predominant sex:
* Males > Females for short segment (8:2)
* Males > Females for long segment (5:4)
* Stools in pellets or ribbons with pasty consistency
* Early infancy:
>> Onset early in infancy, newborn fails to pass meconium in 24 to 48 hours after birth
>> Obstipation
>> Marked enlargement and distention of abdomen
>> Colonic peristalsis visible
>> Vomiting
>> Palpable fecal mass
>> Growth retardation (possible)
* Older infants:
>> Failure to thrive
>> Anorexia
>> Lack of physiologic urge to defecate
>> Empty rectum on digital examination
>> Palpable colon
>> Visible peristalsis
>> Hypoalbuminemia
CAUSES: TOP Congenital absence of Auerbach's and Meissener's autonomic plexuses in bowel wall - usually limited to the colon
* Family history of Hirschsprung's disease
* Offspring risk if parent has short segment - 2%; if parent has long segment - up to 50%
* Sibling risk if male affected - female has 0.6% risk (short segment)
* Sibling risk if female affected - male has 18% risk (long segment)
DIAGNOSIS
* Megacolon, secondary (to Chagas' disease)
* Megacolon, acquired, functional
* Functional constipation
* Hypoganglionosis
* Meconium plug syndrome
* Small left colon syndrome
* Meconium ileus
LABORATORY: TOP : Electrolytes, albumin, CBC, urinalysis, thyroid function
Drugs that may alter lab results: N/A
Disorders that may alter lab results: N/A
* Congenital absence of Auerbach's and Meissner's autonomic plexuses in myenteric plexus of colon wall
* Obstruction may begin at anus, and may extend proximally to involve varying portions of the colon or terminal ileum
* Enormous dilatation and hypertrophy of all layers of involved colon
* Rectosigmoid aganglionosis
* Submucosal hypertrophied nerve bundles
* Proctoscopy: Ampulla empty of feces
* Biopsy: Absence of ganglia in wall of narrowed rectum
* Ano-rectal manometry
* X-ray - barium enema shows:
>> Large ovoid mass mottled by small, irregular gas shadows
>> Dilatation of sigmoid colon above narrowed distal sigmoid or rectum
>> Narrowed portion rippled or segmented
>> Fluid levels within bowel
>> Diaphragm elevated
* Suction aspiration biopsy of bowel wall
* Barium enema
* Proctosigmoidoscopy
* Large bowel wall biopsy
* Laparoscopy: Normal proximal colon dilatation
* Ano-rectal manometry: Internal sphincter relaxation failure
APPROPRIATE HEALTH CARE: Early work-up (ambulatory or hospital). Inpatient for surgery.
* Treatment may be symptomatic or definitive
* May need emergency correction of fluid and electrolyte imbalance
* Removal of fecal accumulation - retention enemas of 3-4 ounces (90-120 mL) of mineral oil followed by repeated colonic irrigations with isotonic saline solution. Avoid use of other solutions, e.g., water, soapsuds enemas.
SURGICAL MEASURES: Surgery (inpatient) for colostomy at site in the colon proximal to aganglionic segment or resection of the aganglionic segment or bypass of the segment. Endorectal pull-through techniques may be utilized.
ACTIVITY: No restrictions
DIET:
* Dictated by stage of disease
* Diet will not control the obstipation of Hirschsprung's
* Postoperative diet - standard for age
PATIENT EDUCATION:
* After surgery instruct parents to detect and report dehydration, decreased urinary output, sunken eyes, poor skin turgor, vomiting, fever
* Encourage bonding with parents by having parents participate in child's care as much as possible
* Request enterotomy therapist to teach family
MEDICATIONS
* None recommended for treatment
* Preliminary to surgery: Bowel prep with neomycin or nystatin
Contraindications: N/A
PRECAUTIONS: TOP : N/A
Significant possible interactions: N/A
* Metronidazole (Flagyl) for bowel preparation
FOLLOWUP
PATIENT MONITORING: TOP : Closely until recuperated fully from surgical intervention
PREVENTION/AVOIDANCE: N/A
* Toxic enterocolitis, possibly fatal
* Bleeding and/or perforation
EXPECTED COURSE AND PROGNOSIS: Guardedly favorable with surgery prior to onset of complications
ASSOCIATED CONDITIONS:
* Chagas' disease (secondary aganglionic megacolon may be a late complication of Chagas')
* Megacolon, acquired, functional usually begins in 3rd or 4th year of life
* Down syndrome
* Septal defects
* Tetralogy of Fallot
* Dandy-Walker syndrome
* Associated with anomalies 22% of the time, especially neurological, cardiovascular, urological, gastrointestinal
AGE-RELATED FACTORS:
Pediatric: Occasionally infants have only mild or intermittent constipation with intervening bouts of diarrhea. These cases may not be diagnosed until later in infancy.
Geriatric: N/A
Others: N/A
PREGNANCY: N/A
SYNONYMS:
* Aganglionic megacolon
* Hirschsprung's disease
* Zer-Wilson's disease (total colonic aganglionosis)
ICD-9-CM:
751.3 Hirschsprung's disease
SEE ALSO:
* Constipation
OTHER NOTES: Diagnosis must be made as early as possible to prevent toxic enterocolitis
ABBREVIATIONS: N/A
REFERENCES:
* Ryan ET, et al: J of Ped Surg 1992;1:76-81
* Walsh K, et al, eds: Pediatric Surgery. New York, Yearbook Medical Publishers, 1986
* Eastwood GL, Avunduk C, eds: Manual of Gastroenterology. Boston, Little, Brown, 1988
* Barakat AY, ed: Renal Disease in Children: Clinical Evaluation & Diagnosis. New York, Springer-Verlag, 1990
Author(s):
James A. Nard, MD
Copyright - Williams & Wilkins, 1997.