Anorectal Malformation, TEF, GERD PDF

# Anorectal Malformation To fully understand the spectrum of anorectal anomalies, it is necessary to consider the importance of the sphincter complex, a mass of muscle fibers surrounding the anorectum. This complex is the combination of the puborectalis, levator ani, external and internal sphincter...

# Anorectal Malformation To fully understand the spectrum of anorectal anomalies, it is necessary to consider the importance of the sphincter complex, a mass of muscle fibers surrounding the anorectum. This complex is the combination of the puborectalis, levator ani, external and internal sphincters, and the superficial external sphincter muscles, all meeting at the rectum. Anorectal malformations are defined by the relationship of the rectum to this complex and include varying degrees of stenosis to complete atresia. The incidence is 1/3,000 live births. Significant long-term concerns focus on bowel control and urinary and sexual functions. ## Embryology The hindgut forms early as the part of the primitive gut tube that extends into the tail fold in the 2nd wk of gestation. At about day 13, it develops a ventral diverticulum, the allantois, or primitive bladder. The junction of allantois and hindgut becomes the cloaca, into which the genital, urinary, and intestinal tubes empty. This is covered by a cloacal membrane. The urorectal septum descends to divide this common channel by forming lateral ridges, which grow in and fuse by the middle of the 7th wk. Opening of the posterior portion of the membrane (the anal membrane) occurs in the 8th wk. Failures in any part of these processes can lead to the clinical spectrum of anogenital anomalies. ## Imperforate anus Imperforate anus can be divided into low lesions, where the rectum has descended through the sphincter complex, and high lesions, where it has not. Most patients with imperforate anus have a fistula. There is a spectrum of malformation in males and females. ### Low Lesions - In males, low lesions usually manifest with meconium staining somewhere on the perineum along the median raphe. - Low lesions in females also manifest as a spectrum from an anus that is only slightly anterior on the perineal body to fourchette fistula that opens on the moist mucosa of the introitus distal to the hymen. ### High Lesions - A high imperforate anus in a male has no apparent cutaneous opening or fistula, but it usually has a fistula to the urinary tract, either the urethra or the bladder. - Although there is occasionally a rectovaginal fistula, in females, high lesions are usually cloacal anomalies in which the rectum, vagina, and urethra all empty into a common channel or cloacal stem of varying length. - The interesting category of males with imperforate anus and no fistula occurs mainly in children with trisomy 21. - The most common lesions are the rectourethral bulbar fistula in males and the rectovestibular fistula in females; the 2nd most common lesion in both sexes is the perianal fistula. ## Associated Anomalies There are many anomalies associated with anorectal malformations. The most common are anomalies of the kidneys and urinary tract in conjunction with abnormalities of the sacrum. This complex is often referred to as caudal regression syndrome. Males with a rectovesical fistula and patients with a persistent cloaca have a 90% risk of urologic defects. Other common associated anomalies are cardiac anomalies and esophageal atresia with or without tracheoesophageal fistula. These can cluster in any combination in a patient. When combined, they are often accompanied by abnormalities of the radial aspect of the upper extremity and are termed the VACTERL (vertebral, anal, cardiac, tracheal, esophageal, renal, limb) anomalad. ### Associated Malformations **Genitourinary** - Vesicoureteric reflux - Renal agenesis - Renal dysplasia - Ureteral duplication - Cryptorchidism - Hypospadias - Bicornuate uterus - Vaginal septa **Vertebral** * Spinal dysraphism * Tethered chord * Presacral masses * Meningocele * Lipoma * Dermoid * Teratoma **Cardiovascular** - Tetralogy of Fallot - Ventricular septal defect - Transposition of the great vessels - Hypoplastic left-heart syndrome **Gastrointestinal** * Tracheoesophageal fistula * Duodenal atresia * Malrotation * Hirschsprung disease **Central Nervous System** * Spina bifida * Tethered cord Anorectal malformations, particularly anal stenosis and rectal atresia can also present as Currarino triad, which includes sacral agenesis, presacral mass, and anorectal stenosis. These patients present with a funnel appearing anus, have sacral bony defects on plain x-ray, and have a presacral mass (teratoma, meningocele, dermoid cyst, enteric cyst) on exam or imaging. It is an autosomal dominant disorder due in most patients to a mutation in the MNX1 gene. A good correlation exists between the degree of sacral development and future function. Patients with an absent sacrum usually have permanent fecal and urinary incontinence. Spinal abnormalities and different degrees of dysraphism are often associated with these defects. Tethered cord occurs in approximately 25% of patients with anorectal malformations. Untethering of the cord can lead to improved urinary and rectal continence in some patients, although it seldom reverses established neurologic defects. The diagnosis of spinal defects can be screened for in the first 3 mo of life by spinal ultrasound, although MRI is the imaging method of choice if a lesion is suspected. In older patients, MRI is needed. ## Manifestations and Diagnosis ### Low Lesions Examination of a newborn includes the inspection of the perineum. The absence of an anal orifice in the correct position leads to further evaluation. Mild forms of imperforate anus are often called anal stenosis or anterior ectopic anus. These are typically cases of an imperforate anus with a perineal fistula. The normal position of the anus on the perineum is approximately halfway (0.5 ratio) between the coccyx and the scrotum or introitus. Although symptoms, primarily constipation, have been attributed to anterior ectopic anus (ratio: <0.34 in females, <0.46 in males), many patients have no symptoms. If no anus or fistula is visible, there may be a low lesion or covered anus. In these cases, there are well-formed buttocks and often a thickened raphe or bucket handle. After 24 hr, meconium bulging may be seen, creating a blue or black appearance. In these cases, an immediate perineal procedure can often be performed, followed by a dilation program. In a male, the perineal (cutaneous) fistula can track anteriorly along the median raphe across the scrotum and even down the penile shaft. This is usually a thin track, with a normal rectum often just a few millimeters from the skin. Extraintestinal anomalies are seen in <10% of these patients. In a female, a low lesion enters the vestibule or fourchette (the moist mucosa outside the hymen but within the introitus). In this case, the rectum has descended through the sphincter complex. Children with a low lesion can usually be treated initially with perineal manipulation and dilation. Visualizing these low fistulas is so important in the evaluation and treatment that one should avoid passing a nasogastric tube for the first 24 hr to allow the abdomen and bowel to distend, pushing meconium down into the distal rectum. ### High Lesions In a male with a high imperforate anus, the perineum appears flat. There may be air or meconium passed via the urethra when the fistula is high, entering the bulbar or prostatic urethra, or even the bladder. In rectobulbar urethral fistulas (the most common in males), the sphincter mechanism is satisfactory, the sacrum may be underdeveloped, and an anal dimple is present. In rectoprostatic urethral fistulas, the sacrum is poorly developed, the scrotum may be bifid, and the anal dimple is near the scrotum. In rectovesicular fistulas, the sphincter mechanism is poorly developed, and the sacrum is hypoplastic or absent. In males with trisomy 21, all the features of a high lesion may be present, but there is no fistula, the sacrum and sphincter mechanisms are usually well developed, and the prognosis is good. In females with high imperforate anus, there may be the appearance of a rectovaginal fistula. A true rectovaginal fistula is rare. Most are either the fourchette fistulas described earlier or are forms of a cloacal anomaly. ### Persistent Cloaca In persistent cloaca, the embryologic stage persists in which the rectum, urethra, and vagina communicate in a common orifice, the cloaca. It is important to realize this, because the repair often requires repositioning the urethra and vagina as well as the rectum. Children of both sexes with a high lesion require a colostomy before repair. ### Rectal Atresia Rectal atresia is a rare defect occurring in only 1% of anorectal anomalies. It has the same characteristics in both sexes. The unique feature of this defect is that affected patients have a normal anal canal and a normal anus. The defect is often discovered while rectal temperature is being taken. An obstruction is present approximately 2 cm above the skin level. These patients need a protective colostomy. The functional prognosis is excellent because they have a normal sphincteric mechanism (and normal sensation), which resides in the anal canal. ## Approach to the Patient Evaluation includes identifying associated anomalies. Careful inspection of the perineum is important to determine the presence or absence of a fistula. If the fistula can be seen there, it is a low lesion. The invertogram or upside-down x-ray is of little value, but a prone crosstable lateral plain x-ray at 24 hr of life (to allow time for bowel distention from swallowed air) with a radiopaque marker on the perineum can demonstrate a low lesion by showing the rectal gas bubble <1 cm from the perineal skin. A plain x-ray of the entire sacrum, including both iliac wings, is important to identify sacral anomalies and the adequacy of the sacrum. An abdominal-pelvic ultrasound and voiding cystourethrogram must be performed. The clinician should also pass a nasogastric tube to identify esophageal atresia and should obtain an echocardiogram. In males with a high lesion, the voiding cystourethrogram often identifies the rectourinary fistula. In females with a high lesion, more invasive evaluation, including vaginogram and endoscopy, is often necessary for careful detailing of the cloacal anomaly. Good clinical evaluation and a urinalysis provide enough data in 80-90% of male patients to determine the need for a colostomy. Voluntary sphincteric muscles surround the most distal part of the bowel in cases of perineal and rectourethral fistulas, and the intraluminal bowel pressure must be sufficiently high to overcome the tone of those muscles before meconium can be seen in the urine or on the perineum. The presence of meconium in the urine and a flat bottom are considered indications for the creation of a colostomy. Clinical findings consistent with the diagnosis of a perineal fistula represent an indication for an anoplasty without a protective colostomy. Ultrasound is valuable not only for the evaluation of the urinary tract, but it can also be used to investigate spinal anomalies in the newborn and to determine how close to the perineum the rectum has descended. More than 90% of the time, the diagnosis in females can be established on perineal inspection. The presence of a single perineal orifice is a cloaca. A palpable pelvic mass (hydrocolpos) reinforces this diagnosis. A vestibular fistula is diagnosed by careful separation of the labia, exposing the vestibule. The rectal orifice is located immediately in front of the hymen within the female genitalia and in the vestibule. A perineal fistula is easy to diagnose. The rectal orifice is located somewhere between the female genitalia and the center of the sphincter and is surrounded by skin. Less than 10% of these patients fail to pass meconium through the genitalia or perineum after 24 hr of observation. Those patients can require a prone crosstable lateral film. ## Operative Repair Sometimes a perineal fistula, if it opens in good position, can be treated by simple dilation. Hegar dilators are employed, starting with a No. 5 or 6 and letting the baby go home when the mother can use a No. 8. Twice-daily dilatations are done at home, increasing the size every few weeks until a No. 14 is achieved. By 1 yr of age, the stool is usually well formed and further dilation is not necessary. By the time No. 14 is reached, the examiner can usually insert a little finger. If the anal ring is soft and pliable, dilation can be reduced in frequency or discontinued. Occasionally, there is no visible fistula, but the rectum can be seen to be filled with meconium bulging on the perineum, or a covered anus is otherwise suspected. If confirmed by plain x-ray or ultrasound of the perineum that the rectum is <1 cm from the skin, the clinician can do a minor perineal procedure to perforate the skin and then proceed with dilation or do a simple perineal anoplasty. When the fistula orifice is very close to the introitus or scrotum, it is often appropriate to move it back surgically. This also requires postoperative dilation to prevent stricture formation. This procedure can be done any time from the newborn period to 1 yr. It is preferable to wait until dilatations have been done for several weeks and the child is bigger. The anorectum is a little easier to dissect at this time. The posterior sagittal approach of Peña is used, making an incision around the fistula and then in the midline to the site of the posterior wall of the new location. The dissection is continued in the midline, using a muscle stimulator to be sure there is adequate muscle on both sides. The fistula must be dissected cephalad for several centimeters to allow posterior positioning without tension. If appropriate, some of the distal fistula is resected before the anastomosis to the perineal skin. In children with a high lesion, a double-barrel colostomy is performed. This effectively separates the fecal stream from the urinary tract. It also allows the performance of an augmented pressure colostogram before repair to identify the exact position of the distal rectum and the fistula. The definitive repair or posterior sagittal anorectoplasty (PSARP) is performed at about 1 yr of age. A midline incision is made, often splitting the coccyx and even the sacrum. Using a muscle stimulator, the surgeon stays strictly in the midline and divides the sphincter complex and identifies the rectum. The rectum is then opened in the midline and the fistula is identified from within the rectum. This allows a division of the fistula without injury to the urinary tract. The rectum is then dissected proximally until enough length is gained to suture it to an appropriate perineal position. The muscles of the sphincter complex are then sutured around (and especially behind) the rectum. Other operative approaches such as an anterior approach are used, but the most popular procedure is by laparoscopy. This operation allows division of the fistula under direct visualization and identification of the sphincter complex by transillumination of perineum. Other imaging techniques in the management of anorectal malformations include 3D endorectal ultrasound, intraoperative MRI, and colonoscopy-assisted PSARPs, which may help perform a technically better operation. None of these other procedures or innovations has demonstrated improved outcomes. A similar procedure can be done for female high anomalies with variations to deal with separating the vagina and rectum from within the cloacal stem. When the stem is longer than 3 cm, this is an especially difficult and complex procedure. Usually the colostomy can be closed 6 wk or more after the PSARP. Two weeks after any anal procedure, twice-daily dilatations are performed by the family . By doing frequent dilatations, each one is not so painful and there is less tissue trauma, inflammation, and scarring. ## Outcome The ability to achieve rectal continence depends on both motor and sensory elements. There must be adequate muscle in the sphincter complex and proper positioning of the rectum within the complex. There must also be intact innervation of the complex and of sensory elements, as well as the presence of these sensory elements in the anorectum. Patients with low lesions are more likely to achieve true continence. They are also, however, more prone to constipation, which leads to overflow incontinence. It is very important that all these patients are followed closely, and that the constipation and anal dilation are well managed until toilet training is successful. # Esophageal Atresia / Tracheoesophageal Fistula / GERD ## Esophageal Atresia / Tracheoesophageal Fistula (EA-TEF) - Esophageal atresia and tracheo-esophageal fistula(EA-TEF)is one of the differential diagnoses for respiratory distress in the newborn as the esophageal continuity is lacking, the baby is unable to feed and is likely to aspirate. - A genetic etiology of EA-TEF has not been definitely established, EA-TEF has been known to occur in several generations of the same family with a 2% recurrence risk in the sibling. - Many pathogenesis theories surround it: - Esophageal occlusion and failure to recanalization - Spontaneous deviation of tracheoesophageal septum - Abnormal migration of tracheoesophageal septum - Mechanical obstruction - Defect in signaling pathway of extracellular organ differentiation ## Associated Anomalies - Structural weakness of the membranous part of trachea is commonly associated with EA-TEF resulting in tracheomalacia. This causes the trachea to collapse at the end of expiration simulating stridor, which becomes more obvious when the baby cries. - Collectively, these anomalies are identified with the acronyms VATER or VACTERL syndrome. - Vertebral (hemivertebrae, scoliosis, rib deformities) - Anorectal malformations - Cardiac defects [ventricular septal defects (VSD), tetralogy of Fallot, PDA, ASD and auriculoventricular (AV) defects - TracheoEsophageal fistula - Renal anomalies (renal agenesis, Potter syndrome, horseshoe kidney, polycystic kidney, urethral atresia, vesicoureteral reflux) - Limb and radial anomalies (absent radius, radial dysplasia, radial ray deformities, polydactyly, syndactyly and tibial deformities) - Another acronym for associations is CHARGE that includes Coloboma, Heart defects, Atresia choanae, developmental Retardation, Genital hypoplasia and Ear deformities ## Clinical Presentation - The clinical presentation of types A, B, C or D of EA is similar; the neonates present with excessive salivation and drooling. - The neonates cough, choke, and get cyanosed when fed. - In the presence distal TEF (C & D), air passes thru the fistula into the stomach resulting in abdominal distention. This combined with the chemical pneumonitis that occurs due to regurgitated gastric juice through the distal TEF leads to severe respiratory distress. - If EA type C or D is associated with duodenal atresia, the abdominal distention is extreme and occurs very early, mandating urgent surgical correction. - In case of EA type A, no air passes into the stomach and the abdomen is rather scaphoid. ## Differential Diagnosis - A nasopharyngeal perforation post a traumatic insertion of a nasogastric or orogastric tube is the most important differential diagnosis. - It can also happen following a rough finger sweep to clean the neonate's mouth following home delivery conducted by an untrained birth attendant. - The oral secretions in such a case are blood stained, a feature not often seen with EA-TEF. ## Diagnosis ### Antenatal Diagnosis - Less than 50% of the cases can be diagnosed antenatally. The two mentioned signs on ultrasound – presence of polyhydramnios and absent or small stomach bubble - are NOT specific. - The visualization of cervical or thoracic fluid image corresponding to the expansion of the bottom of upper esophageal pouch (pouch sign) on antenatal ultrasound or MRI is more specific. - Recently, amniotic fluid biochemical markers (a biochemical pattern characterized by high total protein, g-glutamyl transpeptidase and normal L-leucine aminopeptidase) have been suggested to have 100% detection rate. ### Postnatal Diagnosis - An orogastric tube (10Fr red rubber catheter) cannot be passed into the stomach and arrests at 9-11 cm. - The pouch sign may occasionally be seen on a plain chest radiograph. If a soft infant feeding tube is used, it will be seen in coiled in the upper esophageal pouch. #### Plain Radiograph of Chest and Abdomen - The upper pouch can clearly be seen as a blind ending structure with the tube coiled in it. - Presence or absence of bowel gas in the abdomen as it indicates the nature of fistula, e.g., presence of abundant air shadows in the GI tract depicts a distal TEF, gasless abdomen is seen in pure EA - Presence of a double bubble and paucity of distal gas in bowel in addition to EA imply a coexisting duodenal atresia - In all newborns with anorectal malformation, EA-TEF should be excluded by passing an orogastric red rubber catheter. An associated enlarged kidney (hydronephrosis or multicystic kidney) may be clinically palpated. - The associated limb deformities, if any, are very obvious, the most common being radial aplasia or hypoplasia #### Water Soluble Contrast Study Water soluble contrast study should be done with extreme caution to avoid aspiration pneumonitis, only when the diagnosis cannot be confirmed on clinical or plain radiological imaging. ## Management The initiation resuscitation of neonates with EA-TEF includes initiation of warmed electrolyte solution, intravenous antibiotic therapy, decompression of the upper pouch and other maneuvers to improve respiratory the respiratory status. - Two strategies are devised to decrease the degree of aspiration of saliva pooling in the upper oesophageal pouch: - To nurse in the anti-Trendelenburg position - A sump catheter (Replogle tube) is placed in the upper pouch on continuous suction. - In a stable neonate, the definitive repair may be performed soon after the work-up for the associated anomalies is done. Definitive repair of the EA-TEF is rarely a surgical emergency to be performed in the middle of the night. ### Primary Esophageal Anastomosis - In a stable infant, division of TEF and primary esophageal repair is done. - Preoperative bronchoscopy may be performed to determine the opening of the distal esophageal segment in trachea, carina or right bronchus. A retropleural approach is preferred over the transpleural approach for repair. - A primary esophagoesophageal anastomosis is performed over a transanastomotic feeding tube. A chest tube drain is placed and the incision is closed. With the advent of minimally invasive surgery, thoracoscopic repair of EA-TEF is also being done in stable patients. ### Postoperative Management Routine postoperative intubation and ventilation is undesirable as it may put pressure on the site of tracheal closure. However, postoperative ventilation would be mandatory in the presence of prematurity or pneumonia. - If a transanastomotic tube is placed, expressed breastmilk could be fed through it from the very early postoperative period. In case transanastomotic tube is not placed, then parenteral nutrition would need to be instituted through a central line. - The chest tube drain should not drain more than few mL of serous fluid on 1st postoperative day in the normal course; presence of saliva in the tube indicates an anastomotic leak. - A contrast swallow is obtained on 7–10th postoperative day to determine whether a leak is present and to rule out anastomotic stenosis, ## Complications ### Early Complications - These include an anastomotic leak (10-15%), anastomotic stricture (10-20%) and recurrent TEF(5-15%). All 3 complications may coexist in a particular patient. - Major anastomotic leaks manifest within first few postoperative days with hydropneumothorax, mediastinitis and sepsis and necessitate immediate surgical exploration. - Minor anastomotic leak is usually incidentally detected on the contrast swallow or may be seen in the form of small amount of saliva in the chest tube in a stable neonate. It invariably heals spontaneously. - Strictures may present with swallowing difficulties (dysphagia, vomiting, cough, poor or slow feeding), foreign body obstruction (including food bolus), recurrent respiratory tract infections and/or poor weight gain. Diagnosis is made on barium esophagography and esophagoscopy ### Late Complications - These include gastroesophageal reflux (GER), esophageal dysmotility and tracheomalacia. Nearly two-thirds of EA patients have some form of dysphagia in adulthood. - Patients with type E TEFs, also called H-type, usually present beyond the newborn period. Recurrent chest infections and failure to thrive are the common presentations. - The diagnosis of H-type TEF is often made on barium esophagrography and is confirmed on bronchoscopy. - Neonates born with EA-TFF and duodenal atresia require an urgent surgical treatment owing to the closed obstruction of the stomach and proximal duodenum; any delay may lead to gastric perforation. # GER Gastroesophageal reflux (GER) is one of the most common disorders of the esophagus in the pediatric age group. It can be defined as spontaneous and effortless passage of gastric contents from the stomach into the esophagus. GER may be physiological as seen in infancy or pathological. Gastroesophageal reflux is common in infancy presents as vomiting or regurgitation. The prevalence of regurgitation was noted to be 55% in infants between 1 month and 6 months of age and the prevalence dropped to 15% in infants between 7 months and 12 months. The prevalence of GER decreases with age in children, but increases again in adolescence. Seen in children with neurological impairment such as cerebral palsy and children who have had surgery for esophageal atresia. Obesity, presence of hiatal hernia, and chronic respiratory disorders are also predisposing factors for severe GER in children. ## Pathophysiology Transient relaxation of the lower esophageal sphincter (TRLES) is defined as abrupt, prolonged (> 10 sec) and complete relaxation of the lower esophageal sphincter (LES). - It occurs independent of swallowing and is the most frequent mechanism causing GER in children and adults. - This inappropriate relaxation of LES tone allows gastric contents to enter the esophagus, thus exposing the esophageal mucosa to the acidic gastric contents. - Recurrent acid reflux can injure the distal esophageal mucosa resulting in esophagitis. - Chronic esophagitis may lead to complications such as stricture or Barrett's esophagus, result in adenocarcinoma of esophagus but this complication is very rare in children. - GER can cause respiratory complications either due to aspiration or reflex bronchospasm. Reflux of acid into the larynx may cause irritation leading to laryngitis or apnea. ## Clinical Features Gastroesophageal reflux in infancy is physiological and presents as regurgitation or spitting. Weight gain is excellent and there is no evidence of complications such as esophagitis or respiratory symptoms. These infants are aptly called "happy spitters". The physiological reflux of infancy generally begins in the first few weeks of life, peaks at about 6 months and usually resolves by 8-12 months of age. GER in older children can be significant and lead to GERD. - Esophagitis is one of the most common complications of GER in children and usually presents with epigastric pain or hematemesis. - Irritability with feeds or feeding refusal may be the only manifestation of esophagitis in younger children or neurologically impaired patients. - Waterbrash, the sudden appearance of sour salty fluid in the mouth secondary to hypersecretion of the salivary glands in response to the presence of acid in the esophagus, seen in older children with GER. - Some infants with severe GERD may present with failure to thrive secondary to frequent copious vomiting, and refusal of food due to the pain of esophagitis. - Apnea in infants due to laryngospasm caused by nasopharyngeal microaspiration, and sudden infant death syndrome (SIDS) may be manifestations of GERD. - Sandifer syndrome is a rare complication of GERD- It is an unusual movement disorder characterized by spasmodic torsional dystonia with arching of the back and opisthotonic posturing. - Pyloric stenosis and malrotation should be considered and ruled out. - In older children, acid peptic diseases such as gastritis or ulcer can present with vomiting and epigastric pain. The diagnostic criteria of infant regurgitation according to Rome III classification include regurgitation of two two or more times per day for 3 or more weeks in otherwise healthy infants (3 weeks to 12 months of of age) without retching, hematemesis, aspiration, apnea, failure to thrive, feeding or swallowing difficulties, or abnormal posturing. ## Diagnostic Studies | Tests | Diagnostic Utility | | --------------------------------------------- | ---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | | Upper gastrointestinal series | To assess anatomical abnormalities | | 24-hour esophageal pH study | To rule out malrotation, hiatal hernia, stricture. To detect acid reflux in the esophagus. To correlate acid reflux and extraesophageal manifestations | | Endoscopy with histology | To diagnose esophagitis, Barrett's esophagus. To rule out gastritis, peptic ulcer, eosinophilic esophagitis | | Impedence study | To dilate esophageal stricture. To detect acid and nonacid reflux in the esophagus. To correlate acid and nonacid reflux and extraesophageal manifestations | There is no single test to assess GER in children and tests should be planned depending on the clinical presentation of the child. - Upper gastrointestinal barium study is not a good test to diagnose reflux because of poor sensitivity and specificity, but it is useful to rule out anatomical abnormalities. - Twenty-four hour esophageal pH study is useful to assess acid reflux in the esophagus. - Multichannel Intraluminal Impedance (MII) is a procedure that measures change in electrical resistance. MII can be useful for correlation of (acid and nonacid) reflux and symptoms such as apnea, cough and respiratory symptoms. However, the test is expensive and is not readily available. - Therefore, endoscopy has become the test of choice for children with reflux. ## Management ### For Physiologic Reflux of Infancy - Reassurance to parents is the most important part of the management - Smaller and more frequent feeds and frequent burping during feeds as well as keeping infants in an upright position after feeding is recommended. - Thickening of formula feeds with rice cereal can decrease the number of episodes of vomiting in infants. - Elevation of the head of the bed is recommended for older children with nocturnal reflux symptoms. - Children should be advised to avoid acidic fruit juices, caffeinated beverages, chocolate and fatty foods as these tend to make reflux symptoms worse. - Exposure to smoking can also worsen reflux symptoms and therefore should be avoided. - Weight loss is beneficial in obese children with reflux. ### Acid Suppression Therapy - It is commonly used as first line therapy for significant reflux. - Antacids directly buffer gastric acidic contents and reduce heartburn and reflux symptoms. They can be used on as needed basis, but regular long-term use is not recommended. - Acid suppressants such as histamine 2 receptor antagonists (H2RAs) and proton pump inhibitors (PPIs) act to decrease esophageal acid exposure by reducing the quantity of gastric acid secretion. - H2RAs block histamine receptors on the parietal cell while PPIs block the Na-K-ATPase enzyme (proton pump), which is the final common pathway of acid secretion. - PPIs are superior to H2RAS. PPIs should be given 30 minutes before breakfast to get maximum efficacy. The duration of therapy should be 3-6 months and an attempt should be made to withdraw these medications after that time. - Adverse effects are rare and they include headache, diarrhea and constipation. Tachyphylaxis can develop with H2RAs and therefore they should not be used for long-term therapy. PPIs are generally well tolerated over long-term (up to 11 years) ### Other Drugs - The selective GABA agonist baclofen, which is used in children with spasticity, inhibits TRLES, and is hence useful in GERD. It also reduces postprandial acid and nonacid reflux and its associated symptoms. - Drugs like salbutamol, theophylline, diazepam and barbiturates, which can preaggravate reflux should be avoided in children with GER. ### Surgical Therapy - Indicated for intractable reflux despite medical management and life-threatening aspiration. - Nissen fundoplication is the most common operation performed. - Overall, with the availability of proton pump inhibitors, necessity of fundoplication has decreased considerably.