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Other birth defects may co-exist, particularly in the heart, but sometimes also in the anus, spinal column, or kidneys. This is known as VACTERL association because of the involvement of Vertebral column, Anorectal, Cardiac, Tracheal, Esophageal, Renal, and Limbs. It is associated with polyhydramnios in the third trimester.
Any attempt at feeding could cause aspiration pneumonia as the milk collects in the blind pouch and overflows into the trachea and lungs. Furthermore, a fistula between the lower esophagus and trachea may allow stomach acid to flow into the lungs and cause damage. Because of these dangers, the condition must be treated as soon as possible after birth.
Surgical repair can sometimes result in complications, including:
- Stricture, due to gastric acid erosion of the shortened esophagus
- Leak of contents at the point of anastomosis
- Recurrence of fistula
- Gastro-esophageal reflux disease
- Dysphagia
- Asthma-like symptoms, such as persistent coughing/wheezing
- Recurrent chest infections
- Tracheomalacia
Tracheoesophageal fistula is suggested in a newborn by copious salivation associated with choking, coughing, vomiting, and cyanosis coincident with the onset of feeding. Esophageal atresia and the subsequent inability to swallow typically cause polyhydramnios in utero. Rarely it may present in an adult.
Laryngeal cleft is usually diagnosed in an infant after they develop problems with feeding, such as coughing, cyanosis (blue lips) and failing to gain weight over time. Pulmonary infections are also common. The longer the cleft, the more severe are the symptoms. Laryngeal cleft is suspected after a video swallow study (VSS) shows material flowing into the airway rather than the esophagus, and diagnosis is confirmed through endoscopic examination, specifically microlaryngoscopy and bronchoscopy. If a laryngeal cleft is not seen on flexible nasopharyngoscopy, that does not mean that there is not one there. Laryngeal clefts are classified into four types according to Benjamin and Inglis. Type I clefts extend down to the vocal cords; Type II clefts extend below the vocal cords and into the cricoid cartilage; Type III clefts extend into the cervical trachea and Type IV clefts extend into the thoracic trachea. Subclassification of type IV clefts into Type IVA (extension to 5 mm below the innomate artery) and Type IV B (extension greater than 5 mm below the innominate artery) may help with preoperative selection of those who can be repaired via transtracheal approach (Type IV A) versus a cricotracheal separation approach (type IV B).
The diagnosis of duodenal atresia is usually confirmed by radiography. An X-ray of the abdomen shows two large air filled spaces, the so-called "double bubble" sign. The air is trapped in the stomach and proximal duodenum, which are separated by the pyloric sphincter, creating the appearance of two bubbles visible on x-ray. Since the closure of the duodenum is complete in duodenal atresia, no air is seen in the distal duodenum.
Atresias occurring distal to the duodenum are usually caused by vascular accidents or ischemic insult, such as jejunoileal atresia.
Prognosis is usually very good, although complications are more likely to occur when there are serious congenital anomalies. Late complications may occur in about 12 percent of patients with duodenal atresia, and the mortality rate for these complications is 6 percent.
There are several forms of imperforate anus and anorectal malformations. The new classification is in relation of the type of associated fistula.
The classical Wingspread classification was in low and high anomalies:
- A low lesion, in which the colon remains close to the skin. In this case, there may be a stenosis (narrowing) of the anus, or the anus may be missing altogether, with the rectum ending in a blind pouch.
- A high lesion, in which the colon is higher up in the pelvis and there is a fistula connecting the rectum and the bladder, urethra or the vagina.
- A persistent cloaca (from the term cloaca, an analogous orifice in reptiles and amphibians), in which the rectum, vagina and urinary tract are joined into a single channel.
Imperforate anus is usually present along with other birth defects—spinal problems, heart problems, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb anomalies are among the possibilities.
Imperforate anus is associated with an increased incidence of some other specific anomalies as well, together being called the VACTERL association:
- V – Vertebral anomalies
- A – "Anal atresia"
- C – Cardiovascular anomalies
- T – Tracheoesophageal fistula
- E – Esophageal atresia
- R – Renal (kidney) and/or radial anomalies
- L – Limb defects
Other entities associated with an imperforate anus are trisomies 18 and 21, the cat-eye syndrome (partial trisomy or tetrasomy of a maternally derived number 22 chromosome), Baller-Gerold syndrome, Currarino syndrome, caudal regression syndrome, FG syndrome, Johanson-Blizzard syndrome, McKusick-Kaufman syndrome, Pallister-Hall syndrome, short rib-polydactyly syndrome type 1, Townes-Brocks syndrome, 13q deletion syndrome, urorectal septum malformation sequence, and the OEIS complex (omphalocele, exstrophy of the cloaca, imperforate anus, spinal defects).
A laryngeal cleft or laryngotracheoesophageal cleft is a rare congenital abnormality in the posterior laryngo-tracheal wall. It occurs in approximately 1 in 10,000 to 20,000 births. It means there is a communication between the oesophagus and the trachea, which allows food or fluid to pass into the airway.
Intestinal atresias are often discovered before birth: either during a routine sonogram which shows a dilated intestinal segment due to the blockage, or by the development of polyhydramnios (the buildup of too much amniotic fluid in the uterus). These abnormalities are indications that the fetus may have a bowel obstruction which a more detailed ultrasound study can confirm.
Some fetuses with bowel obstruction have abnormal chromosomes. An amniocentesis is recommended because it can determine not only the sex of the baby, but whether or not there is a problem with the chromosomes.
Intestinal atresia is a malformation where there is a narrowing or absence of a portion of the intestine. This defect can either occur in the small or large intestine.
The diagnosis is suspected based on polyhydramnios in uteru, bilious vomiting, failure to pass meconium in the first day of life, and abdominal distension. The presentations of NBO may vary. It may be subtle and easily overlooked on physical examination or can involve massive abdominal distension, respiratory distress and cardiovascular collapse. Unlike older children, neonates with unrecognized intestinal obstruction deteriorate rapidly.
Atresia is a condition in which an orifice or passage in the body is (usually abnormally) closed or absent.
Examples of atresia include:
- Biliary atresia, a condition in newborns in which the common bile duct between the liver and the small intestine is blocked or absent.
- Choanal atresia, blockage of the back of the nasal passage, usually by abnormal bony or soft tissue.
- Esophageal atresia, which affects the alimentary tract and causes the esophagus to end before connecting normally to the stomach.
- Imperforate anus, malformation of the opening between the rectum and anus.
- Intestinal atresia, malformation of the intestine, usually resulting from a vascular accident in utero.
- Microtia, absence of the ear canal or failure of the canal to be tubular or fully formed (can be related to Microtia, a congenital deformity of the pinna, or outer ear).
- Ovarian follicle atresia, the degeneration and subsequent resorption of one or more immature ovarian follicles.
- Potter sequence, congenital decreased size of the kidney leading to absolutely no functionality of the kidney, usually related to a single kidney.
- Pulmonary atresia, malformation of the pulmonary valve in which the valve orifice fails to develop.
- Renal agenesis, only having one kidney.
- Tricuspid atresia, a form of congenital heart disease whereby there is a complete absence of the tricuspid valve, and consequently an absence of the right atrioventricular connection.
- Vaginal atresia, a congenital occlusion of the vagina or subsequent adhesion of the walls of the vagina, resulting in its occlusion.
Esophageal diseases can derive from congenital conditions, or they can be acquired later in life.
Many people experience a burning sensation in their chest occasionally, caused by stomach acids refluxing into the esophagus, normally called heartburn. Extended exposure to heartburn may erode the lining of the esophagus, leading potentially to Barrett's esophagus which is associated with an increased risk of adenocarcinoma most commonly found in the distal one-third of the esophagus.
Some people also experience a sensation known as globus esophagus, where it feels as if a ball is lodged in the lower part of the esophagus.
The following are additional diseases and conditions that affect the esophagus:
- Achalasia
- Acute esophageal necrosis
- Barrett's esophagus
- Boerhaave syndrome
- Caustic injury to the esophagus
- Chagas disease
- Diffuse esophageal spasm
- Esophageal atresia and Tracheoesophageal fistula
- Esophageal cancer
- Esophageal dysphagia
- Esophageal varices
- Esophageal web
- Esophagitis
- GERD
- Hiatus hernia
- Jackhammer esophagus (hypercontractile peristalsis)
- Killian–Jamieson diverticulum
- Mallory-Weiss syndrome
- Neurogenic dysphagia
- Nutcracker esophagus
- Schatzki's ring
- Zenker's Diverticulum
The classic history of esophageal rupture is one of severe retching and vomiting followed by excruciating retrosternal chest and upper abdominal pain. Odynophagia, tachypnea, dyspnea, cyanosis, fever, and shock develop rapidly thereafter.
Physical examination is usually not helpful, particularly early in the course. Subcutaneous emphysema (crepitation) is an important diagnostic finding but is not very sensitive, being present in only 9 of 34 patients (27 percent) in one series. A pleural effusion may be detected.
Mackler's triad includes chest pain, vomiting, and subcutaneous emphysema, and while it is a classical presentation, it is only present in 14% of people.
Pain can occasionally radiate to the left shoulder, causing physicians to confuse an esophageal perforation with a myocardial infarction.
It may also be audibly recognized as Hamman's sign.
Neonatal bowel obstruction (NBO) or neonatal intestinal obstruction is the most common surgical emergency in the neonatal period. It may occur due to a variety of conditions and has an excellent outcome based on timely diagnosis and appropriate intervention.
Common misdiagnoses include myocardial infarction, pancreatitis, lung abscess, pericarditis, and spontaneous pneumothorax. If esophageal perforation is suspected, even in the absence of physical findings,chest xray, water soluble contrast radiographic studies of the esophagus and a CT scan should be promptly obtained. In most cases, non-operative management is administered based on radiological evidence contained in mediastinal collection.
It can be unilateral or bilateral.
- Sometimes, a unilateral choanal atresia is not detected until much later in life because the baby manages to get along with only one nostril available for breathing.
- Bilateral choanal atresia is a very serious life-threatening condition because the baby will then be unable to breathe directly after birth as babies are obligate nasal breathers (they mainly use their noses to breathe). In some cases, this may present as cyanosis while the baby is feeding, because the oral air passages are blocked by the tongue, further restricting the airway. The cyanosis may improve when the baby cries, as the oral airway is used at this time. These babies may require airway resuscitation soon after birth.
Sometimes babies born with choanal atresia also have other abnormalities:
- coloboma
- heart defects
- mental retardation
- growth impairment
- others (see also CHARGE syndrome)
Also any condition that causes significant depression of the nasal bridge or midface retraction can be associated with choanal atresia. Examples include the craniosynostosis syndromes such as Crouzon syndrome, Pfeiffer syndrome, Treacher Collins and Antley-Bixler syndrome.
Gastric atresia is the complete occlusion of the pyloric outlet of the stomach and is an extremely rare event.
Depending on the level of obstruction, bowel obstruction can present with abdominal pain, swollen abdomen, abdominal distension, vomiting, fecal vomiting, and constipation.
Bowel obstruction may be complicated by dehydration and electrolyte abnormalities due to vomiting; respiratory compromise from pressure on the diaphragm by a distended abdomen, or aspiration of vomitus; bowel ischemia or perforation from prolonged distension or pressure from a foreign body.
In small bowel obstruction, the pain tends to be colicky (cramping and intermittent) in nature, with spasms lasting a few minutes. The pain tends to be central and mid-abdominal. Vomiting may occur before constipation.
In large bowel obstruction, the pain is felt lower in the abdomen and the spasms last longer. Constipation occurs earlier and vomiting may be less prominent. Proximal obstruction of the large bowel may present as small bowel obstruction.
Umbilical cord ulceration and intestinal atresia is a rare congenital disease that leads to intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage. Only 15 cases have so far been reported, though newer studies are beginning to conclude that this disease has a higher incidence rate than has been previously reported. A particular study has given intestinal atresia and umbilical cord ulceration a clear link after 5 such cases were reported at the time of publication.
Differential diagnoses of bowel obstruction include:
- Ileus
- Pseudo-obstruction or Ogilvie's syndrome
- Intra-abdominal sepsis
- Pneumonia or other systemic illness .
Anal atresia or imperforate anus is seen in about 55 percent of patients with VACTERL association. These anomalies are usually noted at birth and often require surgery in the first days of life. Sometimes babies will require several surgeries to fully reconstruct the intestine and anal canal.