2. PRESENTING COMPLAINT
B/O Rajitha, a 2 DOL Female child, 2nd product
of a non- consanguinous marriage came with
C/O
• Increasing distension of abdomen
• Not passed meconium
• One episode of bilious vomiting
3. H/O PRESENT ILLNESS
• Parents noticed baby to have increasing
distension of abdomen since birth associated
with absence of passage of meconium
• Baby had one episode of bilious vomiting on
the 2nd DOL
• Baby was taken to a local paediatrician,
advised X-Ray Erect abdomen & Barium
enema. Advised referral to higher centre
4. BIRTH HISTORY
• Baby delivered at term by LSCS in view of
leaking amniotic fluid
• BCIAB
• APGAR- 8/9
• BIRTH WEIGHT- 3.65 KGS
5. MATERNAL HISTORY
• Mother , 30 yr old, a known case of hypothyroid, on
tab Thyroxine 25mcg since 10 yrs
• Mother 5th gravida
• 1st- Spontaneous abortion at 2mths of gestational age
• 2nd – Spontaneous abortion at 2mths of gestational age
• 3rd- Live male child, 4yrs of age, diagnosed to have
meconium ileus. Colostomy done on 4th DOL F/B
Colostomy closure
• 4th – Spontaneous abortion at 2mths of age
• 5th- Present pregnancy
6. MATERNAL HISTORY
• No H/O Diabetes/ HTN/ Fever/ Rashes/ Pedal
oedema/ Facial puffiness/ Seizures/ Icterus/
Cardiac disease/ Bleeding disorders/ Infertility
treatment
• Received Iron, Folic acid, Calcium supplements
• No H/O intake of Alcohol/ Tobacco/Drug
abuse or any other medication
7. FAMILY HISTORY
• Father a known case of hypothyroid on tab
Thyroxine 25mcg.
• No H/O similar complaints in family other than
elder sibling
• No H/O Consanguinity
8. ON EXAMINATION
• Colour- Pink
• Cry/ Tone/ Activity- good
• Skin/ Head/ Face/ Neck- Normal
• Eyes/ Ears/ Mouth- Normal
• No dysmorphism
• AF at level
• HR- 152/min
• RR- 46/ min
• SPO2- 96% without O2
• Lungs- B/L equal air entry, Clear
• Heart- PSM heard at the lt sternal border
9. ABDOMINAL EXAMINATION
INSPECTION-
• Distended, Flanks full
• Girth- 34cm
• No scars, sinuses or dilated veins
• No visible lumps, pulsations or peristaltic movements
• Umblicus- everted
PALPATION-
• Liver- Firm, rounded, felt 1cm below the costal margin
• No splenomegaly noted
• No doughy feel on palpation
PERCUSSION-
• Liver dullness noted in 5th ICS in mid clavicular line
• Liver span- 5cm
• No fluid thrill/ shifting dullness noted
AUSCULTATION
• BS- Present, heard equally in all four quadrants
• Anal patency +
• Genitalia- Normal, Female
• Hip/ Spine- Normal
14. OPERATIVE FINDINGS
• Dilated terminal ileum with sticky meconium
• Distal narrower terminal ileum with pellets
• PROCEDURE DONE-
• Laparotomy
• Enterostomy + Removal of sticky meconium
• Double barrel enterostomy
• Appendicectomy- sent for biopsy
15. MECONIUM
• Meconium is the material found in the intestine in a
newborn. It consists of succus entericus that is made
up of bile salts, bile acids, and debris that is shed from
the intestinal mucosa during intrauterine life. It is
normally evacuated within 6 hours after birth or
sooner in utero as a result of a vagal response to
perinatal stress.
• By convention, 4 GI conditions have the term
meconium in their name: meconium ileus, meconium
ileus–equivalent syndrome, meconium peritonitis, and
meconium plug syndrome.
16. Meconium peritonitis
• Meconium peritonitis may be incidentally detected on
abdominal radiographs.
• Clinically, patients may present because of bowel
obstruction caused by fibroadhesive bands, which are
the result of the inflammatory peritoneal reaction.
• The bowel itself may be intact, with the perforation
having healed, but bowel atresias are often found in
association.
• If the processus vaginalis is patent at the time the
perforation occurs, calcification or hernias may involve
the scrotum.
• Ascites may also be present.
17. Meconium ileus–equivalent syndrome
• The condition is important, as it can be the presenting
feature of cystic fibrosis in childhood and even in early
adult life.
• Moreover, the operative mortality and morbidity rates are
high.
• Recurrent bowel obstruction (which is often correlated with
poor compliance with medication for cystic fibrosis) may
manifest as recurrent colicky abdominal pain, often in the
right upper quadrant.
• In the older infant or child, chronic constipation can be a
problem, and intestinal obstruction can occur secondary to
fecal impaction. These patients may also present with
intussusceptions.
18. Meconium plug syndrome
• Functional colonic obstruction in the full-term neonate
is another name for meconium plug syndrome.
• Although this abnormality is found mostly in term
infants, Mees et al reported that 3 of their 4 patients
were premature.
• Most infants with this form of colonic obstruction
present within their first 24-36 hours of life.
• Findings include abdominal distention, bilious
vomiting, and failure to initiate the normal passage of
meconium.
19. Meconium Ileus
• Meconium ileus is obstruction of the terminal ileum by abnormally
tenacious meconium; it almost universally occurs in neonates with
cystic fibrosis.
• Meconium ileus accounts for up to 33% of neonatal small-bowel
obstructions.
• In the past, meconium ileus (MI) was considered to be closely
related to cystic fibrosis (CF). Approximately 80% to 90% of
newborns with MI were believed to have CF.
• This opinion has changed since Fakhoury et al observed that 21.6%
of the population with MI that they studied did not have CF
• It is divided into 2 categories: simple MI and complex MI. In the
latter, the obstruction is complicated by associated gastrointestinal
pathology, such as atresia, necrosis, and perforation
20. Pathophysiology
• Obstruction occurs at the level of the terminal ileum (unlike
the colonic obstruction caused by meconium plug
syndrome) and may be diagnosed by prenatal ultrasound.
• Distal to the obstruction, the colon is narrow and empty or
contains small amounts of desiccated meconium pellets.
The relatively empty, small-caliber colon is called a
microcolon.
• The pathogenesis of MI in the absence of CF is not yet
clear, although it is assumed that both immaturity of the
myenteric plexus and the interstitial cells of Cajal may
predispose to MI, as was demonstrated by Toyosaka et al
and Yoo et a
21. Symptoms and Signs
• After birth, infants fail to pass meconium in the
first 12 to 24 h, which is typical for normal
neonates.
• They have signs of intestinal obstruction,
including bilious emesis and abdominal
distention.
• Loops of distended small bowel sometimes can
be palpated through the abdominal wall and may
feel characteristically doughy.
• Meconium peritonitis with respiratory distress
and ascites can occur secondary to perforation.
22. Diagnosis
• Prenatal ultrasound -can detect changes in utero suggestive of cystic
fibrosis and meconium ileus, but these changes are not specific.
• Diagnosis is suspected in a neonate with signs of intestinal obstruction,
particularly if a family history of cystic fibrosis exists.
• Abdominal x-rays-show dilated intestinal loops; however, fluid levels are
often absent. A “soap bubble” or “ground glass” appearance due to small
air bubbles mixed with the meconium is diagnostic of meconium ileus. If
meconium peritonitis is present, calcified meconium flecks may line the
peritoneal surfaces and even the scrotum.
• Barium enema- reveals a microcolon with an obstruction in the terminal
ileum.
• Contrast enema examination can help in differentiating meconium plug
syndrome from meconium ileus or ileal atresia. In these latter conditions,
microcolon is seen
• Patients diagnosed with meconium ileus should be tested for cystic
fibrosis
28. Differential diagnosis-Associated with
failure to pass meconium
Diagnosis Frequency Abnormal findings Therapy
Hirschsprung's disease 1/4,0003 Tight anus, empty rectum, transition zone Surgery
Meconium plug syndrome 1/500 to 1/1,00010 Meconium plugs Rectal stimulation, enema
Anorectal malformation 1/4,000 to 1/8,00014 Absent anus, tight anus or fistula Dilatation, surgery
Small left colon syndrome Rare Transition zone* at splenic flexure Enema, rarely, colostomy
Hypoganglionosis Rare Transition zone* Medical, TPN, surgery
Neuronal intestinal dysplasia type A Rare Transition zone,* mucosal inflammation Medical, surgery
Neuronal intestinal dysplasia type B Rare Megacolon Medical, rarely, surgery
Megacystis-microcolon-intestinal hypoperistalsis syndrome Very rare Microcolon, megacystis TPN
29. Congenital Aganglionic Megacolon
(Hirschsprung Disease)
• Hirschsprung disease, or congenital aganglionic megacolon, is
caused by abnormal innervation of the bowel, beginning in the
internal anal sphincter and extending proximally to involve a
variable length of gut.
• Hirschsprung disease is the most common cause of lower intestinal
obstruction in neonates, with an overall incidence of 1/5,000 live
births. Males are affected more often than females (4:1)
• Hirschsprung disease may be associated with other congenital
defects, including Down, Smith-Lemli-Opitz, Waardenburg,
cartilage-hair hypoplasia, and congenital hypoventilation (“Ondine
curse”) syndromes and urogenital or cardiovascular abnormalities
• Hirschsprung disease has been seen in association with
microcephaly, mental retardation, and abnormal facies; with
autism; or with cleft palate, hydrocephalus, and micrognathia
30. PATHOLOGY
• Hirschsprung disease is the result of an absence of ganglion cells in the bowel wall, extending
proximally and continuously from the anus for a variable distance.
• The absence of neural innervation is a consequence of an arrest of neuroblast migration from the
proximal to distal bowel.
• Hirschsprung disease is usually sporadic; dominant and recessive patterns of inheritance have been
demonstrated in family groups
• The aganglionic segment is limited to the rectosigmoid in 75% of patients; in 10%, the entire colon
lacks ganglion cells. Total bowel aganglionosis is rare.
• Observed histologically is an absence of Meissner and Auerbach plexus and hypertrophied nerve
bundles with high concentrations of acetylcholinesterase between the muscular layers and in the
submucosa
• CLINICAL MANIFESTATIONS- The clinical symptoms of Hirschsprung disease usually begin at birth
with the delayed passage of meconium. In 99% of full-term infants, meconium is passed within 48
hr of birth. Hirschsprung disease should be suspected in any full-term infant (the disease is unusual
in preterm infants) with delayed passage of stool. Some infants pass meconium normally but
subsequently present with a history of chronic constipation. Failure to thrive, with hypoproteinemia
from a protein-losing enteropathy, is a less common presentation because Hirschsprung disease is
usually recognized early in the course of the illness. Breast-fed infants may not suffer as severe a
disease as formula-fed infants
31. TREATMENT
• There are three basic surgical options.
• The 1st successful surgical procedure, described by Swenson, was
to excise the aganglionic segment and anastomose the normal
proximal bowel to the rectum 1–2 cm above the dentate line.
• Duhamel described a procedure to create a neorectum, bringing
down normally innervated bowel behind the aganglionic rectum.
The neorectum created in this procedure has an anterior
aganglionic half with normal sensation and a posterior ganglionic
half with normal propulsion.
• The endorectal pull-through procedure described by Boley involves
stripping the mucosa from the aganglionic rectum and bringing
normally innervated colon through the residual muscular cuff, thus
bypassing the abnormal bowel from within. Advances in techniques
have led to successful laparoscopic endorectal pull-through
procedures, which are the treatment of choice.
32.
33. Small Left Colon Syndrome
• Most cases of functional colonic obstruction are caused
by Hirschsprung disease; however, a subset of term or
near-term babies experience colonic obstruction with a
characteristic caliber reduction in the sigmoid and
descending colon unrelated to meconium inspissation
or aganglionosis.
• Neonatal small left colon syndrome is an uncommon
cause of neonatal intestinal obstruction characterized
by an abrupt intestinal caliber transition at or near the
splenic flexure and associated, in approximately half of
cases, with a maternal history of gestational diabetes
mellitus.
34. Contrast enema of an infant who presented with abdominal distension, bilious nasogastric aspirates,
and failure to pass meconium at 24 hours of life demonstrates a normal caliber rectum, a small caliber
sigmoid and descending colon with an abrupt caliber transition at the splenic flexure. These findings
are characteristic of neonatal small left colon syndrome (NSLCS). Supine shoot-through lateral
abdominal radiograph had revealed distended loops of bowel with air-fluid levels.
35. Intestinal neuronal dysplasia (or
neuronal intestinal dysplasia or NID)
• is an inherited disease of the intestine that effects
one in 3000 children and adults.
• The intestine uses peristalsis to push its contents
toward the anus; IND sufferers have a problem
with the motor neurons that lead to the intestine,
inhibiting this process and thus preventing
digestion.
• It can be grouped into NID A and NID B, with the
"A" form affecting the sympathetic innervation,
and the "B" version affecting the parasympathetic
innervation.
36. Megacystis microcolon intestinal
hypoperistalsis
syndrome
• Megacystis microcolon intestinal hypoperistalsis
syndrome (MMIHS) is a rare and the most severe form
of functional intestinal obstruction in the newborn.
• The major features of this congenital and usually lethal
anomaly are abdominal distension, bile-stained
vomiting, and absent or decreased bowel peristalsis.
• Abdominal distension is a consequence of the
distended, unobstructed urinary bladder with or
without upper urinary tract dilation. Most patients
with MMIHS are not able to void spontaneously.
• Pathogenesis involves genetic,neurogenic,myogenic
and hormonal origin.
39. CYSTIC FIBROSIS
• Cystic fibrosis (also known as CF or mucoviscidosis) is a common recessive genetic disease which
affects the entire body, causing progressive disability and often early death.
• The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the
pancreas
• Cystic fibrosis has an autosomal recessive pattern of inheritance
• CF is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR).
• The most common mutation, ΔF508, is a deletion (Δ) of three nucleotides that results in a loss of
the amino acid phenylalanine (F) at the 508th (508) position on the protein. This mutation accounts
for two-thirds (66-70%[16]) of CF cases worldwide and 90 percent of cases in the United States;
however, there are over 1,500 other mutations that can produce CF
• The CFTR gene, found at the q31.2 locus of chromosome 7
• The precise incidence of CF among Indians is unknown. The incidence in migrant Indian populations
in the USA has been estimated to be 1 in 40000, and in the UK between 1 in 10000 to 12000
• majority of the damage in CF is due to blockage of the narrow passages of affected organs with
thickened secretions
40. SIGNS & SYMPTOMS
• Delayed growth, Failure to gain weight normally during childhood
• No bowel movements in first 24 to 48 hours of life
• Salty-tasting skin
• Symptoms related to bowel function may include:
• Increased gas, bloating, or a belly that appears swollen (distended)
• Nausea and loss of appetite. Stools that are pale or clay colored, foul smelling, have mucus, or that float
• Symptoms related to the lungs and sinuses may include:
• Coughing or increased mucus in the sinuses or lungs
• Nasal congestion caused by nasal polyps
• Recurrent episodes of pneumonia. Symptoms in someone with cystic fibrosis include:
• Fever
• Increased shortness of breath
• Sinus pain or pressure caused by infection or polyps
41.
42. DIAGNOSIS
• Immunoreactive trypsinogen.
• Sweat chloride testing-Sweat chloride values
of more than 60 mEq/L are considered
abnormal
• Transepithelial potential difference (TEPD)
43. TREATMENT
• Treatment for lung problems includes:
• Antibiotics to prevent and treat lung and sinus infections. Doses are usually higher than normal.
• Bronchodilators to help open the airways
• DNAse enzyme replacement therapy to thin mucus and make it easier to cough up
• Flu vaccine and pneumococcal polysaccharide vaccine (PPV) yearly
• Lung transplant is an option in some cases
• Oxygen therapy may be needed as lung disease gets worse
• Treatment for bowel and nutritional problem may include:
• A special diet high in protein and calories for older children and adults
• Pancreatic enzymes to help absorb fats and protein
• Vitamin supplements, especially vitamins A, D, E, and K
