DEFINITION OF COMPLETE DIAGNOSIS Hirschsprungs disease

Hirschsprung's disease is a blockage of the large intestine due to improper muscle movement in the bowel. It is a congenital condition, which means it is present from birth. Muscle contractions in the gut help digested materials move through the intestine. This is called peristalsis. Nerves in between the muscle layers trigger the contractions. In Hirschsprung's disease, the nerves are missing from a part of the bowel. Areas without such nerves cannot push material through. This causes a blockage. Intestinal contents build up behind the blockage, causing the bowel and abdomen to become swollen. Hirschsprung's disease causes about 25% of all newborn intestinal blockages. It occurs five times more often in males than in females. Hirschsprung's disease is sometimes associated with other inherited or congenital conditions, such as Down syndrome.

Source: http://www.nlm.nih.gov/medlineplus/ency/article/001140.htm ------------------------------------------------------------------------------------------------------------------------------Hirschsprungs disease

Also known as Congenital Aganglionic Megacolon.It is the congenital absence of or arrested development of parasympathetic ganglion cells in the intestinal wall, usually in the distal colon. Symptoms are related to chronic intestinal obstruction and usually appear shortly after birth but may not be recognized until later in childhood or (rarely) in adulthood. The lack of colorectal innervation inhibits peristalsis, and the affected portion of intestine becomes spastic and contracted. The internal rectal sphincter fails to relax, which prevents evacuation of fecal material and gas and causes severe abdominal distention and constipation. The most common site affected is the rectosigmoid colon (short segment disease), and the less common is the

upper descending colon and possibly the transverse colon are affected (long segment disease).

Source: http://nursingcrib.com/nursing-notes-reviewer/hirschsprungs-disease/ ------------------------------------------------------------------------------------------------------------------------------Hirschsprungs disease

Definition of Hirschsprung's Disease

This disease is the congenital absence of autonomic ganglia in the smooth muscle wall of the colon, resulting in poor or absent peristalsis in the involved segment of colon, accumulation of feces, and dilatation of the bowel (megacolon).

Description of Hirschsprung's Disease

Hirschsprung's disease is named after the 19th century doctor, Harold Hirschsprung, who first identified it in 1886. Hirschsprung's disease, or congenital intestinal aganglionosis (CIA), is a lack of nerve (ganglion) cells in a segment of the bowel. This interferes with the squeezing action (peristalsis) which normally moves stool through the intestines. In the majority of children, the disease is limited to the rectum or rectosigmoid areas. ------------------------------------------------------------------------------------------------------------------------------Hirschsprungs disease

(heersh-spruungz)n. a congenital condition in which the rectum and sometimes part of the lower colon have failed to develop a normal nerve network. The affected portion does not expand or conduct the contents of the bowel, which accumulate in and distend the upper

section of the colon.

Source: Oxford Minidictionary for Nurses, page 302

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Hirschsprungs disease

Hirschsprung's Disease (congenital aganglionic megacolon) is a congenital absence of the parasympathetic ganglionic nerve cells from within the muscle wall of the intestinal tract, usually at the distal end of the colon. Occurs in 1 in 5,000 live births with no racial predilection. it is three times more common in males. Approximately 10% of children with Hirschsprung's disease have Down syndrome.

Source: The Lippincott Manual of Nursing Practice, Seventh Edition (Philippine Edition), page 1468 -------------------------------------------------------------------------------------------------------------------------------

ETIOLOGY Predisposing Factors Etiologic Factors Age Eighty percent of cases are identified in the first 6 weeks of life. Symptoms begin to show as early as 6 weeks because Hirschsprung disease results from a of failure of the cell craniocaudal
th

Rationale

Present/Absent

Justification

Present

The client at birth fails to pass meconium within 24 to 48 hours. The client is 11 years old now.

migration
th

ganglion

precursors along the gastrointestinal tract during the 5 to 12 weeks of gestation. Coulson,Walter Surgical Pathology Vol.1 1978 Gender Its up to four times more common in males than in females thats because there is a sex difference in the penetrance and expression of mutations. RET mutation is more likely to be transmitted to male offspring and the mutation is more likely to be penetrant in males. This is only applicable to the short segment disease type of Hirschsprungs Disease. Professional Guide to Pathophysiology 2007 Genetics Some cases of Hirschsprung disease can be related to a genetic cause, meaning it is passed from parent to child through genes. Mutations in the Ret proto-oncogene have been associated with familial Hirschsprung disease. Hirschsprungs disease is an autosomal dominant because the gene RET is Absent Present

Since

the

patient is male, this makes him prone to the disease.

The

patient

has no family history of this kind disease. of

dominant. http://emedicine.medscape.com/article/929733 -overview

Ethnicity

More prevalent in whites. Lippincott Williams and Wilkins Professional Guide to Pathophysiology 2007

Absent

The patient is a Filipino.

Other inherited or congenital conditions

This disease usually coexists with other congenital anomalies, particularly trisomy 21 and anomalies of the urinary tract such as megaloureter. Down syndrome (trisomy 21) is the most common chromosomal abnormality associated with the disease, accounting for approximately 10 percent of patients. Lippincott Williams and Wilkins Professional Guide to Pathophysiology 2007

Absent

The doesnt any or

child have inherited congenital from

conditions aside Disease. Hirschsprung