Hirschsprung Disease pencil thin stools pictures

Typically, Hirschsprung disease is diagnosed shortly after birth, although it may develop well into adulthood, because of the presence of megacolon, or because the baby fails to pass the first stool ( meconium) within 48 hours of delivery. The condition is believed to have first been described in 1691 by Dutch anatomist Frederik Ruysch and is named after Danish physician Harald Hirschsprung following his description in 1888. Males are more often affected than females. Hirschsprung's disease occurs in about one in 5,000 of newborns. Occasionally, an intestinal transplantation may be recommended. The surgical procedure most often carried out is known as a 'pull through'. Treatment is generally by surgery to remove the affected section of bowel. Diagnosis is based on symptoms and confirmed by biopsy. Rarely, the small bowel may be affected, as well. The condition is divided into two main types, short-segment and long-segment, depending on how much of the bowel is affected. If otherwise normal parents have one child with the condition, the next child has a 4% risk of being affected. The cause of the remaining cases is unclear. Some of these occur in an autosomal dominant manner. About half of isolated cases are linked to a specific genetic mutation, and about 20% occur within families. The disorder may occur by itself or in association with other genetic disorders such as Down syndrome or Waardenburg syndrome. Complications may include enterocolitis, megacolon, bowel obstruction and intestinal perforation. About half of all children with Hirschsprung's disease are diagnosed in the first year of life. However, others may be diagnosed later in infancy or early childhood. Most children develop signs and symptoms shortly after birth. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth. The most prominent symptom is constipation. Hirschsprung's disease ( HD or HSCR) is a birth defect in which nerves are missing from parts of the intestine. Histopathology of Hirschsprung disease showing abnormal acetylcholine esterase (AchE)-positive nerve fibers (brown) in the mucosaĬonstipation, vomiting, abdominal pain, diarrhea, slow growth Įnterocolitis, megacolon, bowel obstruction, intestinal perforation Ĭhronic intestinal pseudo-obstruction, meconium ileus Aganglionic megacolon, congenital megacolon, congenital intestinal aganglionosis

Hirschsprung Disease pencil thin stools pictures