DEFINISI

Definition of Hirschsprung's Disease

Hirschsprung's disease also called aganglionik megakolon congenital is one of the most common causes
of neonatal intestinal obstruction (0-28 days old baby) .15 Hirschsprung's disease is a disease of the
colon (colon) in the form of a developmental disorder of the enteric nervous system. Movement in the
large intestine is driven by muscles. This muscle is controlled by special nerve cells called ganglion cells.
In infants born with Hirschsprung's disease, no ganglion cells are found which function to control the
contraction and relaxation of the muscles

plain in the distal intestine. In the absence of ganglion cells (aganglionosis) the muscles in the large
intestine cannot perform peristalsis (motion pushing out the stool).

ETIOLOGI

Neuroblast cells migrate from the neural crest of the upper gastrointestinal tract and subsequently
follow existing caudal vagal fibers. Hirschsprung's disease occurs when neuroblast cell migration stops
somewhere and does not reach the rectum. These neuroblast cells fail to migrate into the intestinal wall
and develop towards the craniokaudal inside the intestinal wall. Many gene mutations are linked to the
causes of Hirschsprung's disease. Mutations in proto-oncogenous Ret have been associated with
endocrine neoplasia 2A or 2B in Hirschsprung's disease. Other genes associated with Hirschsprung's
disease include glial neurotrophic cells derived from gene factors, namely the endhotelin-B gene and the
endothelin gene.

PATOFISIOLOGI

The term mega colon aganglionik describes primary damage in the absence of autonomic
parasympathetic ganglion cells in the submucosal (Meissner) and myenteric plexus (Auerbach) in one or
more segments of the colon. This absence causes abnormalities or the absence of pushing movements
(peristalsis), which causes accumulation / accumulation of intestinal contents and distention of the
intestine adjacent to damage (megacolon). In addition, the failure of the internal anal sphincter to relax
contributes to the clinical symptoms of obstruction, because it can complicate the evacuation of solids
(feces), fluids, and gas.

Imperfect parasympathetic nerve in the aganglionic part of the intestine which results in
abnormal peristalsis, functional constipation and intestinal obstruction. In the proximal part of the
transition region thickening and widening of the intestinal wall occurs with a large accumulation of feces
and gas. Hirschsprung's disease is caused by failure of craniokaudal migration to precursors of ganglion
cells along the gastrointestinal tract between gestational age
 GEJALA KLINIK

There is a trias of clinical symptoms that are often encountered, namely late expenditure of
meconium, green vomiting and abdominal distension. Late meconium expenditure (more than the first
24 hours) is a significant clinical sign.

Swenson (1973) recorded 94% of the observations of 501 cases, while Kartono recorded 93.5%
for 24 hours and 72.4% for 48 hours after birth. Green vomiting and abdominal distension can usually be
reduced when meconium can be removed immediately. Abdominal distension is a manifestation of
intestinal obstruction and can be caused by other disorders such as ileal atresia. Green vomiting is
caused by intestinal obstruction, which can also occur in other disorders with intestinal passage
disorders, such as in ileal atresia, neonatal netrotikans enterocolitis, or intrauterine peritonitis.
Enterocolitis is a threat to serious complications for sufferers

Hirschsprung's disease can strike at any age but the highest at age two-four weeks, although it
can be found at the age of one week. Symptoms include diarrhea, abdominal distension, foul-smelling
stools, and fever.

PENATALAKSANAAN

Until now, healing Hirschsprung's disease can only be done surgically. Medical measures can be
taken but to treat abdominal distention by the installation of an anus pipe or the installation of gastric
pipes and rectal irrigation. Antibiotics are intended to prevent infection, especially for enterocolitis and
prevent sepsis.

Intravenous fluids can be given to maintain the body's fluid, electrolyte and acid-base balance.

Surgical treatment generally consists of two stages, namely the first stage by making a
colostomy and the second stage by performing definitive surgery. The first stage is intended as an
emergency measure to prevent complications and death. At this stage a colostomy is performed, which
will eliminate abdominal distension and will improve the patient's condition. The second stage is

by carrying out definitive surgery by removing the ganglionic segment with the lower part of the
rectum.

Some definitive procedures are known, namely Swenson's sigmoidectomy, Duhamel procedure,
Soave’s Transanal Endorectal PullThrough procedure, Rehbein procedure by anterior resection,
Laparoscopic Pull-Through procedure, procedures and procedures for anorectal myomectomy. After the
diagnosis of Hirschsprung's disease is enforced, a number of preoperative actions must be done first. If
the patient is dehydrated or sepsis, stabilization and resuscitation should be done with
 administration of intravenous fluids, antibiotics, and installation of gastric pipes. If before the
operation has undergone enterocolitis then fluid resuscitation fluid is aggressively performed, giving
antibiotics broad spectrum is strictly then immediately performed intestinal decompression measures.

KOMPLIKASI

Complications after the surgical procedure of Hirschsprung's disease can be classified as leakage
of the anastome, stenosis, enterocolitis and impaired sphincter function. Enterocolitis has been
reported in up to 58% of cases in patients with disease

Hirschsprung caused by mucosal ischemia with bacterial invasion and translocation. Changes in
mucin and neuroendocrine cells, increased prostaglandin E1 activity, Clostridium difficile or rotavirus
infection are suspected as causes of enterocolitis. In very severe circumstances enterocolitis will cause
toxic megacolon which is characterized by fever, green vomiting, severe diarrhea, abdominal distension,
dehydration and shock. The occurrence of necrotic ulceration due to mucosal ischemia above the
aganglionic segment will cause sepsis, pnematosis and intestinal perforation. Infection in Hirschsprung's
disease originates from low-lying intestinal obstruction conditions. Intestinal distension results in
obstruction of blood circulation to the intestinal wall,

so that the intestinal wall experiences ischemia and anoxia. Ischemic tissue is easily infected by
germs, and germs become more virulent. There is invasion of germs from the intestinal lumen, to the
mucosa, sub mucosa, muscular layer, and finally to the peritoneal cavity or sepsis. The state of intestinal
wall ischemia can continue which eventually causes necrosis and perforation. The process of damage to
the intestinal wall starts from the mucosa, and can cause enterokilitis.

Enterocolitis is a threat to serious complications for sufferers of Hirschsprung's disease, which

can attack at any age, but highest at age 2-4 weeks, although it can be found at the age of 1 week.
Symptoms include diarrhea, abdominal distension, foul-smelling stools and fever. Swenson noted that
nearly 1/3 of Hirschsprung's cases came with clinical manifestations

enterocolitis, can even occur even though a colostomy has been performed. The incidence of
enterocolitis based on the operating procedure used by Swenson was 16.9%, Boley-Soave was 14.8%,
Duhamel was 15.4% and Lester Martin was 20%. There are 29 clinical features of abdominal distension,
38 diarrhea, 2 people in faeces, 31 people vomiting and 22 people in the heat.

PROGNOSIS

The survival of patients with Hirschsprung's disease relies heavily on the initial diagnosis and
surgical approach. In general, the prognosis is good, 90% of patients with Hirschsprung's disease get
surgery
 experiencing healing and only about 10% of patients still have problems with the cerebral tract
so a permanent colostomy must be done. The mortality rate due to complications from surgery in
infants is around 20%.

ANAMNESIS

The signs that can be seen when doing anamnesis is the late release of the first meconium which
generally exits more than 24 hours, vomiting is green, there is obstipation of the neonatal period. If it
occurs in older children, obstipation is more frequent, flatulence, and stunted growth. In addition, it
should be noted that there was a previous family history of suffering from a similar complaint, for
example the previous boy died before the age of two weeks with a history of not being able to defecate.

PEMERIKSAAN FISIK

In neonates it is common to find flatulence due to obstipation. When done plugging the rectum
then when the finger is pulled out then the stool will spray out in large quantities and it appears the
child's stomach has returned to normal. This examination aims to find out the smell of feces, dirt that
accumulates and clogs the lower intestine and decay will occur.

PEMERIKSAAN PENUNJANG

Radiological examination is an important examination in Hirschsprung's disease. Plain abdominal

examination and especially barium enema examination are the most important diagnostic examinations
for detecting disease

Hirschsprung early in the neonate. Plain abdominal photographs can be found with a picture of
low-lying intestinal obstruction, although in infants it is still difficult to distinguish between small
intestine and large intestine. The examination which is the standard in diagnosing Hirschsprung's disease
is a barium enema, which will be found three distinctive signs, namely

there is a narrowing area in the proximal rectum where the length varies, there is a transition
area, seen proximal to the narrowing area towards the dilated area, and there is a lumen dilation area in
the proximal transition area. If from barium enema photos there are no distinctive signs of
Hirschsprung's disease, then it can be continued with barium retention photos, ie photos after 24-48
hours of barium are allowed to blend with feces. The typical picture is the appearance of barium which
blends with feces proximal to the colon. Whereas in patients who do not experience Hirschsprung but
accompanied by obstipasi

chronic, the barium is seen to clot in the rectum and sigmoid region.