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Hirschsprung disease

(hĭrsh′prŭng″) [Harald Hirschsprung, Danish physician, 1830–1916] The most common cause of lower gastrointestinal obstruction in neonates. Infants with this disease have chronic constipation, fecal impaction, and overflow diarrhea. SYN: aganglionic megacolon. SEE: megacolon.

 INCIDENCE: The disease occurs in 1 out of 5000 children, with a male-to-female ratio of 4:1.

 CAUSES: The condition is caused by congenital absence of some or all of the normal bowel parasympathetic ganglion cells, beginning at the anus and extending variable lengths proximally; 75% of cases are limited to the immediate rectosigmoid area. The aganglionic bowel segment contracts, but there is no reciprocal relaxation; therefore feces cannot be moved onward through the bowel. Unless diagnosed and treated quickly, the colonic obstruction caused by Hirschsprung may result in fecal stagnation, bacterial overgrowth with toxin production, enterocolitis, overflow diarrhea, hypovolemic shock, and infant death.

 SYMPTOMS AND SIGNS: Refractory constipation occurring in infancy or early childhood is characteristic. About 15% of cases are diagnosed in the first month of life, 64% by the third month, and 80% by age 1 year. Only 8% remain undiagnosed by 3 years of age.

 DIAGNOSIS: Barium contrast enema is usually used for diagnosis, but for mild cases when the enema result is negative, rectal biopsy is the diagnostic standard. Anorectal manometry or suction biopsy of rectal tissue are the most precise tests used to diagnose Hirschsprung disease.

 TREATMENT: Surgical excision of the affected segment of bowel and reanastomosis of healthy bowel are standard, and many surgical techniques have been used. The optimal surgical technique for treating the disease is uncertain.

PATIENT CARE: In the neonatal period, health care providers help the parents adjust to their child’s congenital defect. They prepare the parents for medical and/or surgical intervention and instruct them in the care of the infant’s colostomy (if complete obstruction necessitates this) after discharge.

 Preoperative patient care focuses on ensuring adequate nutrition to withstand surgery and aid healing. Surgical preparation in a baby other than a newborn (whose bowel is sterile) requires bowel cleansing and sterilization with saline enemas and antibiotic therapy. A nasogastric tube may be inserted to manage or prevent abdominal distention. Progressive abdominal distention signals worsening bowel obstruction; the abdominal circumference is measured at the umbilicus each time that vital signs are checked. Psychological preparation for surgery is dictated by the child’s age; spacing explanations appropriately can prevent anxiety and confusion. Parents and older children should be reminded that the colostomy (if needed) will be temporary.

 Postoperative care is similar to that for any infant or child experiencing abdominal surgery in which colostomies are required. Appropriate analgesics are prescribed and provided, and the parents are assured that the infant’s pain will be managed and comfort maintained. Fluid and electrolyte balance ...

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