Case Presentation: This is the case of a 39-year old, G3P1001 woman with fetal aneuploidy identified on prenatal screening. Her pregnancy was conceived via anonymous sperm donor, whom had been used for two previous healthy and uncomplicated pregnancies. The mother underwent non-invasive prenatal testing (NIPT) at 10 weeks gestation, which was reported as positive for [...]

Case Presentation: An exclusively breastfed 2-month-old male born at 31 weeks gestation presented with 10 days of progressively worsening rash over his face, genitalia, and right upper extremity. Prior to transfer, the patient had previously been treated for suspected impetigo with topical mupirocin, oral cephalexin, and IV cefazolin without improvement. Upon presentation, the patient was [...]

Case Presentation: This is a 35-year old Indian female, living in the United States for the past several years, presented with chronic mid-epigastric and left upper quadrant pain radiating to the back, nausea, and bilious vomiting. She complained of oily loose stools for the past 2 months. Her medical history is notable for insulin-dependent diabetes [...]

Case Presentation: A 23 year-old man with history of classic maple syrup urine disease (MSUD) and obesity presented with chief complaint of 3 days of vivid nightmares and hallucinations. He denied abdominal pain, vomiting, imbalance, or other neurologic symptoms. He did report increased life stressors (college coursework) in the week prior to his symptom onset, [...]

Background: Information about how genetic testing is used in the NICU and how it changes clinical management is limited. In addition, genetic testing strategies are rapidly evolving, and having a baseline understanding of our current testing strategies and their clinical utility is important. Among infants admitted to children’s hospitals NICU, about 10-30% have a congenital [...]

Case Presentation: 1 year old otherwise healthy twins present to the ED after Twin A became acutely unresponsive. The twins had been ill with a GI virus with fever, vomiting, and decreased activity for a week. The night of presentation, Twin A started vomiting, developed perioral cyanosis, and became unresponsive. On arrival to the ED, [...]