11/10/2023 0 Comments Diagnosis for hyperactive bowel soundsIn addition to congenital hypothyroidism, TCON may be associated with maternal diabetes and hypermagnesemia, which is often seen in infants born to mothers treated for pre-eclampsia. 3 TCON is secondary to functional immaturity of the ganglion cells in the descending colon, mimicking a distal bowel obstruction. 5 Affected patients can present with transient colonic obstruction of the newborn (TCON), often referred to as small left colon syndrome or meconium plug syndrome. 5 Signs and symptoms are often nonspecific, including coarse facial features with a widened anterior fontanelle, macroglossia, umbilical hernia, poor feeding, prolonged jaundice, and goiter. 2018 19(10):e594Ĭongenital hypothyroidism (Option A) represents a group of disorders caused by decreased levels of biologically active thyroid hormone that can lead to severe developmental delay and irreversible brain damage if left untreated. Radiologic approach to the diagnosis of bowel emergencies in neonates. 4įigure 2: Contrast enema demonstrating a diffuse microcolon with small filling defects (white arrow) in the proximal colon due to inspissated meconium. As such, this clinical presentation warrants further evaluation, including serum immunoreactive trypsinogen levels that are measured on the newborn screen, followed by confirmatory whole CFTR gene sequencing and/or a sweat chloride test. 3 Importantly, up to 90% of neonates presenting with meconium ileus are ultimately diagnosed with cystic fibrosis. 3 In mild cases, a contrast enema can be both diagnostic and therapeutic, whereas in more complex cases, surgical exploration with enterotomy or small bowel resection with ostomy formation may be needed. In patients with meconium ileus, a contrast enema will demonstrate a diffuse microcolon with filling defects representing inspissated meconium within the lumen (Figure 2). 2,3 Radiographic findings include diffuse dilation of the small bowel proximal to the obstruction and peritoneal calcifications if the perforation occurs in utero. 2 Infants present with symptoms within the first 48 hours after birth with variable manifestations ranging from bilious emesis, abdominal distension, and failure to pass meconium to fulminant segmental volvulus, ischemic necrosis, and meconium peritonitis. 4 Meconium ileus develops in utero and represents one of the earliest clinical manifestations of cystic fibrosis. 2,3 In the intestinal tract, abnormal bicarbonate secretion creates an acidic and dehydrated intestinal lumen, resulting in thick, tenacious meconium that causes a small bowel obstruction typically involving the terminal ileus, known as meconium ileus. 1Ĭystic fibrosis (Option B) is an autosomal recessive multi-organ disease caused by a genetic mutation that results in an abnormal CFTR protein and subsequent dysregulated chloride and bicarbonate transport. He was diagnosed with cystic fibrosis (Option B) after genetic testing revealed a pathogenic mutation in the cystic fibrosis transmembrane regulator (CFTR) gene. The infant developed peritonitis and septic shock with subsequent bowel perforation requiring double-barrel ostomy formation. 1 Additional imaging demonstrated a normal rectosigmoid ratio of 1.2. The contrast enema shown in Figure 1 reveals a diffuse microcolon with filling defects secondary to inspissated meconium, which is most consistent with a meconium ileus. Which of the following diagnoses is most likely associated with this finding? Term newborn with abdominal distention and bilious emesis. From: Anders A, Vachharajani A, Ramachandran V. He develops fulminant peritonitis with Escherichia coli sepsis and is emergently taken to the operating room for an exploratory laparotomy.įigure 1: Contrast enema in the infant from the question vignette. A contrast enema is also obtained (Figure 1). An abdominal radiograph shows dilated bowel suggestive of a distal obstruction. On exam, he appears uncomfortable with abdominal distension and tenderness, hyperactive bowel sounds, and a patent anus. He has voided but has not passed meconium. A 12-hour-old term infant has an episode of bilious emesis after feeding.
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