Structural
This presents with polyhydramnios, then soon after birth with choking, drooling, vomiting, and inability to pass an NG tube past the superior thorax.
What is Esophageal Atresia?
This disorder presents with vomiting and poor feeding. Quantitative amino acid analysis shows elevated α-ketoacids of leucine, isoleucine, and valine.
What is Maple Syrup Urine Disease?
This condition presents with polyhydramnios. After birth this presents with billious or nonbillious vomiting within hours after feeding. On AXR, this presents with a double-bubble sign.
What is duodenal atresia?
This condition presents in infancy with cataracts, failure to track objects, and failure to develop a social smile. Other findings include vomiting, growth faltering, and hypoglycemia.
What is classic galactosemia?
This condition presents at birth with mouth-breathing. Patients will also have cyanosis that worsens while feeding and improves with crying.
What is bilateral choanal atresia?
This presents with polyhydramnios, then polyuria with growth faltering after birth. This condition involves inhibition of the NKCC transporter in the thick ascending limb, and findings may include metabolic alkalosis, hypokalemia, and hypercalciuria.
What is Bartter Syndrome?
This condition is associated with erythromycin use and presents within the first few weeks of life with post-prandial projectile and nonbillious vomiting. On physical exam, patients often have an non-tender mass above the umbillicus that can be felt upon palpation.
What is pyloric stenosis? (This is the most common cause of true vomiting in neonates)
This presents with vomiting, poor feeding, and developmental delay in neonates and can progress to a high anion gap metabolic acidosis . This condition leads to hyperammonemia and decreased levels of methylmalonyl-CoA.
What is propionic acidemia?
This condition usually presents within weeks after birth with biphasic stridor, dyspnea, dysphagia, vomiting, and growth faltering. In this condition, there are two vessels that flank and compress the trachea and esophagus.
What is a double aortic arch?
This condition presents within a couple years after birth with poor feeding, vomiting, lethargy, hypotonia, and potentially coma. It is characterized by hypoketotic hypoglycemia.
What is Medium Chain Acyl-CoA Dehydrogenase (MCAD) deficiency or Long Chain Hydroxyacyl-CoA Dehydrogenase (LCHAD) deficiency