CASE PRESENTATION-MECONIUM ILEUS

DR CH. HAREEN

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

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

BIRTH HISTORY

• Baby delivered at term by LSCS in view of leaking amniotic fluid

• BCIAB• APGAR- 8/9• BIRTH WEIGHT- 3.65 KGS

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

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

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

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

ABDOMINAL EXAMINATIONINSPECTION-• Distended, Flanks full• Girth- 34cm• No scars, sinuses or dilated veins• No visible lumps, pulsations or peristaltic movements• Umblicus- evertedPALPATION-• Liver- Firm, rounded, felt 1cm below the costal margin• No splenomegaly noted• No doughy feel on palpationPERCUSSION-• Liver dullness noted in 5th ICS in mid clavicular line• Liver span- 5cm• No fluid thrill/ shifting dullness notedAUSCULTATION• BS- Present, heard equally in all four quadrants• Anal patency +• Genitalia- Normal, Female• Hip/ Spine- Normal

X-RAY ERECT ABDOMEN –Showing dilated bowel loops

BARIUM ENEMA- Showing microcolon

DIAGNOSIS

• Meconium ileus with intestinal obstruction• Advised laparotomy

OPERATIVE FINDINGS

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

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.

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.

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.

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.

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

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

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.

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

Abdominal radiograph shows low intestinal obstruction

• Enema study shows microcolon and contrast material outlining a terminal ileum packed with (meconium) filling defects.

Differential Diagnosis• ileal atresia• colonic atresia• intestinal pseudo-obstructionMaternal causes- Drugs like MgSO4Neonatal causes- • Hypothyroidism, • Hypercalcemia, • Hypokalemia, • Sepsis, • Congestive heart failure (Pediatric Surgery: Diagnosis and

Management By Prem Puri, Michael Höllwarth)

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

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

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

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.

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.

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.

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.

Megacystis microcolon intestinal hypoperistalsissyndrome

• 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.

Voiding cystourethrogram showing a massively enlargedbladder in an MMIHS patient.

Operative photograph of a massively dilated urinarybladder in MMIHS.

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

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

DIAGNOSIS

• Immunoreactive trypsinogen.• Sweat chloride testing-Sweat chloride values

of more than 60 mEq/L are considered abnormal

• Transepithelial potential difference (TEPD)

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