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These posters have been presented at meetings in Children's Mercy and around the world. They represent research that was done at the time they were created, and may not represent medical knowledge or practice as it exists at the time viewers access these posters.

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  • A Case Report: Ansa Pancreatica as a Cause of Recurrent Pancreatitis by Chase Branstetter, Elizaveta Khenner, Victoria Sarata, and Nadia Ibrahimi

    A Case Report: Ansa Pancreatica as a Cause of Recurrent Pancreatitis

    Chase Branstetter, Elizaveta Khenner, Victoria Sarata, and Nadia Ibrahimi

  • A Rare Case of Ogilvie’s Syndrome in a Pediatric Patient with a Complex Medical History by Kirby Lampe, Victoria Sarata, and Aileen Har

    A Rare Case of Ogilvie’s Syndrome in a Pediatric Patient with a Complex Medical History

    Kirby Lampe, Victoria Sarata, and Aileen Har

    Acute colonic pseudo-obstruction (ACPO) or Ogilvie’s syndrome is an acute dilatation of the small or large bowel without an obstructive lesion. Symptoms include abdominal distension, nausea and vomiting, constipation and occasional dyspnea. The disorder most commonly involves the cecum and right colon and is most frequently seen in male patients above the age of 60 (1). It is rare for Ogilvie’s to occur in the pediatric population though some infrequent instances have been reported. Here, we report a case of a patient with significant abdominal distension and gaseous distension seen on x-ray, which was diagnosed and treated as Ogilvie’s syndrome. He was unresponsive to conservative and medical management and ultimately required endoscopic decompression.

  • Intravenous sotalol in pediatric cardiac intensive care patients compared to other antiarrhythmics: insights from a multicenter database by Rohit S. Loomba, Emily R. Backes, Juan Farias Torres, Alejandro Borquez, Lindsey Malloy-Walton, and Saul Flores

    Intravenous sotalol in pediatric cardiac intensive care patients compared to other antiarrhythmics: insights from a multicenter database

    Rohit S. Loomba, Emily R. Backes, Juan Farias Torres, Alejandro Borquez, Lindsey Malloy-Walton, and Saul Flores

    Background: Sotalol is an antiarrhythmic for which an intravenous (IV) form became available in 2015. Studies suggest it is safe and effective for treating pediatric arrhythmias, with fewer effects on physiologic parameters and cardiac output than amiodarone, and it does not appear to be associated with its long-term risks. However, data in pediatric patients remains limited. This study aimed to characterize the use of intravenous sotalol in pediatric intensive care admissions and compare its use and outcomes with intravenous amiodarone and procainamide. Methods: Data were drawn from the Pediatric Health Information System across six hospitals with the highest IV sotalol use (October 2015 to December 2019). Included were admissions of pediatric patients who received intravenous sotalol, amiodarone, or procainamide. Collected variables included demographics, arrhythmias, congenital heart disease, length of stay, and mortality. Trends were analyzed by year. Multivariable regressions were conducted to model length of stay and mortality with various clinical variables and antiarrhythmic medications included as independent variables. Results: Of 927 admissions, 128 (14%) received sotalol, 660 (71%) amiodarone, and 139 (15%) procainamide. Cardiac surgery was least common in the sotalol group (p< 0.01). Sotalol and amiodarone use both increased over time (p=0.03 and p< 0.01) (Figure 1). Supraventricular tachycardia was the most common arrhythmia (Table 1). Mean length of stay (days) was shortest with procainamide (21.8), followed by sotalol (22.7), and amiodarone (29.5) (Figure 2). Inpatient mortality was lowest with sotalol (5.4%) and highest with amiodarone (13.1%) (p=0.02) (Figure 3). Regression analysis demonstrated no independent association between sotalol and length of stay (β = -0.2, p=0.83), while amiodarone was independently associated with increased length of stay (β = 8.4, p< 0.01). Sotalol was linked to decreased mortality (OR = 0.95, p=0.04) and amiodarone with increased mortality (OR = 1.1, p< 0.01). Procainamide showed no significant associations. Conclusion: Intravenous sotalol use in pediatric intensive care patients was associated with lower inpatient mortality and comparable length of stay compared to amiodarone and procainamide after regression analyses. These results support that intravenous sotalol is a safe alternative for pediatric arrhythmia management, meriting further prospective studies.

  • Juvenile Polyp and Lymphoid Hyperplasia “Leads” to Intussusception by Rasheed Ansari, Kirby Lampe, and Ding-You Li

    Juvenile Polyp and Lymphoid Hyperplasia “Leads” to Intussusception

    Rasheed Ansari, Kirby Lampe, and Ding-You Li

    OP is an 8-year-old female who presented to the ED with 1 day of NBNB emesis and abdominal pain. • The CT abdomen showed colocolonic intussusception at the hepatic flexure with a possible polypoid lesion serving as a lead point. • Radiology did not recommend air enema for reduction given atypical age, atypical location, and visualization of lead point. • GI consulted for a possible colonoscopy to reduce intussusception. Colonoscopy contraindicated due to polypoid mass causing obstruction and inability for patient to tolerate cleanout. • Diagnostic laparoscopy performed. Noted Intussusception in the distal ascending colon/proximal transverse colon. Chronic inflammatory changes noted and significant lymphadenopathy. • Surgeon performed right hemicolectomy with ileocolic anastomosis. OP is an 8-year-old female who presented to the ED with 1 day of NBNB emesis and abdominal pain. • The CT abdomen showed colocolonic intussusception at the hepatic flexure with a possible polypoid lesion serving as a lead point. • Radiology did not recommend air enema for reduction given atypical age, atypical location, and visualization of lead point. • GI consulted for a possible colonoscopy to reduce intussusception. Colonoscopy contraindicated due to polypoid mass causing obstruction and inability for patient to tolerate cleanout. • Diagnostic laparoscopy performed. Noted Intussusception in the distal ascending colon/proximal transverse colon. Chronic inflammatory changes noted and significant lymphadenopathy. • Surgeon performed right hemicolectomy with ileocolic anastomosis.

  • Refractory Benign Esophageal Strictures Complicated by Esophageal Perforation and Treated with Serial Dilations and Stent Placement in a Pediatric Patient by Kirby Lampe, Victoria Sarata, and Nadia Ibrahimi

    Refractory Benign Esophageal Strictures Complicated by Esophageal Perforation and Treated with Serial Dilations and Stent Placement in a Pediatric Patient

    Kirby Lampe, Victoria Sarata, and Nadia Ibrahimi

    Patient is a 2-year-old male who was originally referred to GI for failure to thrive and recurrent vomiting following feeds. Upper GI showed long-segment stricture with mid-thoracic tapering and initial EGD revealed 2mmx5cm distal esophageal stricture that was balloon dilated with serial dilations and triamcinolone injections. He presented one week after his 3rd dilation with fever, vomiting and respiratory distress and was found to have cardiac tamponade, left pleural effusion, septic shock and esophageal perforation. He was transferred to the ICU and started on broad-spectrum antibiotics, IV fluids and chest tube placement. He required intubation and vasopressors. After stabilization, esophogram showed marked proximal esophageal dilation and no contrast passage into the stomach. Repeat EGD showed recurrence of the severe stenosis but no contrast extravasation. A 10 mm esophageal stent was placed to keep the esophagus patent. Serial EGDs were completed, with mitomycin C application and stents replacements for larger diameters, up to 16 mm, for a total of 3 months. Congenital esophageal stenosis (CES) is a rare but significant cause of dysphagia, aspiration and feeding difficulties in infants and toddlers. Management typically begins with endoscopic therapy with dilation being first line. Other endoscopic modalities in management of CES include endoscopic incisional therapy, esophageal stenting, intralesional steroid injection and Mitomycin C application. Esophageal perforation rates for dilation of CES are reported to be as high as 44.4%. Traditional management of esophageal perforation includes NPO, antibiotics and chest drainage in the setting of large fluid in the chest; which were effective in our patient. Other modalities include esophageal stenting and endoscopic vacuum assisted closure. Esophageal stents can also serve as a bridge to surgery or as long-term management for recurrent strictures though success rate in treating stricture has been variable and ranges from 0-86%. Stents are also associated with numerous complications such as migration, bleeding, perforation, tracheal compression and erosion into adjacent structures. Ultimately this case underscores the need for a multidisciplinary approach, close monitoring and flexible management in managing complex pediatric esophageal strictures.

  • Symptomatic Severe Hyponatremia: A Rare Complication of Double Balloon Enteroscopy by Victoria Sarata, Kirby Lampe, and Thomas M. Attard

    Symptomatic Severe Hyponatremia: A Rare Complication of Double Balloon Enteroscopy

    Victoria Sarata, Kirby Lampe, and Thomas M. Attard

    Previously healthy 11-year-old female, newly diagnosed Peutz-Jeghers Syndrome (PJS) confirmed by genetic testing STK11 PV (c.464+1dupG) underwent double balloon enteroscopy (DBE) after small bowel capsule showed multiple small intestinal polyps including >1.5 cms diameter. Pre-procedure, she completed a two-day MiraLAX clean out with >10 x 17g doses of MiraLAX each mixed in 6-8oz of water and other clear liquids. DBE completed with resection of 17 total small intestinal (SI), jejunal and ileal polyps. Procedure lasted approximately 4hrs and 5L of sterile water was used for underwater technique and irrigation.Sterile water was used for copious irrigation needed for direct visualization, and increased buoyancy of SI polyps in compliance with scope manufacturer recommendations (IFU). Patient was admitted secondary to number and size of polyps removed. Six hours post-procedure patient had hematemesis followed by a generalized tonic-clonic seizure. Abortive medications given and severe hyponatremia noted with serum sodium of 119mEq/L . Patient transferred to the ICU and treated with 3% hypertonic saline and sodium normalized over several hours. Patient discharged home with several stable sodium levels and no neurologic sequelae. This case represents the rare but potentially life- threatening complication of post-endoscopic symptomatic hyponatremia in a previously healthy patient. In adults, this is typically associated with excessive free water intake, older age, or in the context of unknown underlying comorbidities.

  • The Use of Omalizumab For Idiopathic Isolated Angioedema In A Pediatric Patient by Manali Shah and Thao Le

    The Use of Omalizumab For Idiopathic Isolated Angioedema In A Pediatric Patient

    Manali Shah and Thao Le

    Introduction Angioedema manifests as localized, asymmetric, nonpruritic cutaneous and/or mucosal swelling. The two main clinical forms are histaminergic and bradykinin mediated angioedema. Histaminergic is more common and presents with hives, and responds to antihistamines, steroids, and epinephrine. Bradykinin mediated angioedema lacks hives and does not respond to these therapies. Ten percent of patients with recurrent angioedema have isolated angioedema without urticaria. Case Description A previously healthy 8-year-old male presented initially to the ED evaluation of isolated lip swelling and no other systemic symptoms. There was no exposure to new foods, medications, or illness symptoms. He received anti-histamines and steroids with improvement in his symptoms and referred to Allergy clinic for further evaluation. Lab evaluation with CBCD, BMP, LFTs, inflammatory markers, thyroid studies, ANA, hereditary angioedema, and tryptase were within normal limits. He continued to have recurrent episodes of swelling despite high dose second-generation antihistamines and H2 antagonist. He was started on omalizumab for idiopathic isolated angioedema, with resolution of his symptoms after the second dose. He has been able to stop all anti-histamines without recurrence of symptoms. Discussion This case highlights the off-label use of omalizumab for idiopathic isolated angioedema and demonstrates improvement in symptom control. Isolated angioedema in the absence of urticaria is rare but still warrants a thorough evaluation as management may differ. Isolated angioedema can be difficult to treat as it may not respond to standard therapy. Omalizumab may be effective for these patients and can be considered as a treatment option for recurrent idiopathic isolated angioedema.

  • Unclear Source of Gastrointestinal Bleeding: Utilizing Small Bowel Capsule to Detect an Enteric Duplication Cyst by Victoria Sarata, Kirby Lampe, and Kathryn Clarkston

    Unclear Source of Gastrointestinal Bleeding: Utilizing Small Bowel Capsule to Detect an Enteric Duplication Cyst

    Victoria Sarata, Kirby Lampe, and Kathryn Clarkston

    Introduction Enteric duplication cysts (EDCs) are rare congenital malformation formed during embryonic development of the gastrointestinal tract. Symptoms may include vomiting, abdominal distension, palpable abdominal mass, or bleeding but may vary based on location of the lesion [1]. We present a case of a 9-year-old-male with presented with recurrent rectal bleeding and had abnormalities on small bowel capsule which were diagnosed as enteric duplication cyst on exploratory laparoscopy. Case This is a 9 year old male with a history of persistent iron deficiency anemia, gallstones s/p cholecystectomy and recurrent hematochezia. Patient was initially admitted for recurrent red bloody stools and fatigue. His hemoglobin on admission was 8.1. Fecal calprotectin was elevated to 927. Meckel’s scan negative. Esophagogastroduodenoscopy and colonoscopy completed which showed mild superficial chronic gastritis but were otherwise normal. Small bowel capsule was initiated and normal but was not completed. He was discharged home on high dose proton pump inhibitor (PPI) and iron supplement. Hemoglobin on discharge was 8.4 He had follow up with GI about 1 month after this admission. He was doing well with no recurrent bloody stools. Hemoglobin was 12.7. PPI was decreased to once daily. About one month after clinic visit, he was re-admitted for recurrent bloody stools and fatigue. Hemoglobin on admission was 8.7. During this admission, magnetic resonance enterography (MRE) was negative. Nuclear medicine gastrointestinal blood loss imaging was negative with no active bleeding. EGD and colonoscopy repeated and visually normal. No biopsies obtained. Repeat small bowel capsule placed. Hemoglobin on discharge 10.3. Small bowel capsule now showing an area of narrowing, mucosal disruption, and ulceration concerning for a short-segment stricture. There is erythema/mucosal disruption without active bleeding in the distal 1/3 of the small bowel. There is a double lumen appearance with surface ulceration potentially concerning for a Meckel’s diverticulum. There are scattered areas of erythema in the distal small bowel. Dilated lacteals noted in the distal 2/3 of the small bowel. Double balloon enteroscopy vs surgery consult was recommended for further evaluation of these findings. He was again admitted about 1 month later for melena. Hemoglobin 9.6. Exploratory laparoscopy completed and visualized a large conglomeration of hypervascular bowel with small bowel coming in and out of it and adherence to the mesentery proximal to terminal ileum. This was identified as enteric duplication cyst. Patient tolerated the procedure and recovered well. Pathology identified it as benign enteric cystic lesion with mucosal ulceration consistent with an enteric duplication cyst. There was focal presence of oxyntic type gastric mucosa. At surgery follow up visit, he was doing well with stable hemoglobin. Discussion EDCs are congenital malformations of the GI tract that may cause a variety of abdominal symptoms including pain, vomiting, or bleeding. They are typically found in the distal ileum with an incidence of 4500-12500 but may occur anywhere along the GI tract [2]. EDC must have epithelial lining containing the mucosa of the GI tract, an envelope of smooth muscle and an attachment to the GI tract [1]. Most EDCs are diagnosed prenatally but if undetected, they can gradually increase in size and cause worsening obstruction, bleeding or ulceration. Ultrasound is the imaging technique of choice and will show the presence of a cyst with a “double-wall” or “muscular rim” sign. Advanced imaging such as computed tomography (CT) or magnetic resonance can also be used but these are less preferred given cost, radiation exposure or need for sedation. In a study by Okur et al., (2014), out of 32 pediatric cases of EDCs described, 28 were diagnosed with ultrasound and CT was performed in 21 patients [2]. In our case, MRE did not show evidence of an EDC.

  • Circulation of Respiratory Viruses from Air and Human Specimens in a Pre-kindergarten-12th Grade School District in Kansas City, MO by Nicole Neeley, Brian Lee, Brittney Fritschmann, Luke Gard, Nibha Sagar, Dithi Banerjee, Anjana Sasidharan, Rangaraj Selvarangan, Olivia Almendares, Hannah L. Kirking, Jennifer Goldman, and Jennifer E. Schuster

    Circulation of Respiratory Viruses from Air and Human Specimens in a Pre-kindergarten-12th Grade School District in Kansas City, MO

    Nicole Neeley, Brian Lee, Brittney Fritschmann, Luke Gard, Nibha Sagar, Dithi Banerjee, Anjana Sasidharan, Rangaraj Selvarangan, Olivia Almendares, Hannah L. Kirking, Jennifer Goldman, and Jennifer E. Schuster

    Background: Air sampling with respiratory virus testing in community settings may be a potential non-invasive, scalable method to monitor respiratory viruses. We performed an ecological analysis to describe the correlation between respiratory virus detections in air and human samples across all schools to evaluate the potential for air sampling as a tool for community-level surveillance. Methods: Knowledge of Infectious Diseases in Schools (School KIDS) is a voluntary respiratory virus surveillance program in a pre-kindergarten-12th grade public school district in Kansas City, MO. In 10 schools, students and staff collected anterior nasal swabs while at school, with optional on-demand swabbing when experiencing acute respiratory illness. Simultaneously, air samples were collected biweekly using AerosolSense samplers (ThermoFisher Scientific) in 2-4 (total n=32) locations (e.g., classrooms and nurse’s office) per school for 6-8 hours during school. All specimens were tested by multiplex PCR for adenovirus, human metapneumovirus (hMPV), influenza (Flu) A and B, parainfluenza viruses (PIV) 1-4, respiratory syncytial virus (RSV), rhinovirus/enterovirus (RV/EV), SARS-CoV-2, and seasonal coronaviruses ([sCoV] OC43, HKU1, NL63, 229E). Positivity was defined as detection of ≥1 virus. District-wide weekly virus positivity rates from human and air samples were compared using Spearman’s rank correlation. Results: During September 18, 2024–March 31, 2025, 839 participants (Table) submitted 3851 specimens, with 970 (25.2%) testing positive. Of 353 air samples, 312 (88.4%) were positive. Air sample positivity was higher than human specimen positivity in all 22 weeks when both human and air samples were collected (Figure). Strong positive correlations were observed for RSV (0.87), sCoV OC43 (0.87), PIV-4 (0.73); moderate for sCoV NL63 (0.61), Flu A (0.58), and SARS-CoV-2 (0.53); and weak for hMPV (0.29) and RV/EV (0.12). Conclusion: Air sampling in schools demonstrated moderate-to-strong correlation with human respiratory virus detections for several viruses, suggesting possible utility for non-invasive public health monitoring. Further studies are needed to evaluate the relationship between air and human virus detection.

  • Monitoring The Laboratory Frequency For Musculoskeletal Infections At A Tertiary Care Children's Hospital: A Diagnostic Stewardship Qi Project by Kedar Tilak, Douglas Swanson, Christine Symes, Alaina N. Burns, Ann L. Wirtz, and Rana El Feghaly

    Monitoring The Laboratory Frequency For Musculoskeletal Infections At A Tertiary Care Children's Hospital: A Diagnostic Stewardship Qi Project

    Kedar Tilak, Douglas Swanson, Christine Symes, Alaina N. Burns, Ann L. Wirtz, and Rana El Feghaly

    Patients with musculoskeletal infections (MSKI) undergo several laboratory tests. To promote laboratory stewardship, our Infectious diseases (ID) division recommended the following frequencies for labs: 1) C-reactive protein (CRP) every 2-3 days until >50% reduction while >3mg/dL, otherwise weekly until normal, 2) Sedimentation rate (ESR) at the start of therapy and end if > 20mm/hr initially, 3) Complete blood cell count (CBC) at the start of therapy and when transitioning to oral therapy if WBC is initially elevated. Baseline data showed that of 42 children evaluated between July 2023-May 2024, only 15 (35.7%) had a CBC and 13 (30.95%) had a CRP and ESR obtained at the recommended frequency. Our aim was to increase appropriately ordered monitoring labs to 65% by October 2025. Methods We formed a quality improvement team (QI) of ID specialists (fellow, advanced practice provider, pharmacists, physician) and consulted with orthopedics and hospital medicine physicians. We followed QI methodology to create a cause-and-effect analysis (Figure 1) and prioritization matrix (Figure 2). Our Plan-Do-Study-Act (PDSA) cycles included: 1) An electronic health record (EHR) template to use in notes and emphasizing verbal communication with team; 2) Daily huddle discussion of MSKI and performing time-out before entering patients’ rooms. Our outcome measures were the percentage of patients with MSKI having laboratory frequency in accordance with our consensus, our process measure was the percentage of time the laboratory frequency is recommended in the ID consultation note, and our balancing measure was hospital readmission rate for patients with MSKI. We used control charts to display data and followed Shewhart rules to shift center lines. Results We saw a shift in appropriate ESR frequency testing in November 2023 from 27% to 68% shortly after the team formed (Figure 3 A). We have not observed a shift in the frequency of CBC or CRP (Figure 3B, 3C). We saw an increase in our process measure from 0% to 60%. We saw no change in our balancing measure. Conclusion Our QI initiative aimed at enhancing the frequency of laboratory monitoring for patients with MSKI has shown promising trends. Continued efforts and adjustments to our strategies are essential to achieve our goal of 65% by October 2025.

  • Neonatal Early-Onset Sepsis: It’s Not Always What You Think by Gabriela M. Henriquez, Kedar Tilak, Douglas Swanson, and Susana Chavez-Bueno

    Neonatal Early-Onset Sepsis: It’s Not Always What You Think

    Gabriela M. Henriquez, Kedar Tilak, Douglas Swanson, and Susana Chavez-Bueno

  • Scleral Lens For Recurrent Corneal Ulcer in a Pediatric Patient with Blepharokeratoconjunctivitis by Hannah Walleck and Christina Twardowski

    Scleral Lens For Recurrent Corneal Ulcer in a Pediatric Patient with Blepharokeratoconjunctivitis

    Hannah Walleck and Christina Twardowski

  • A Novel “Stairstep” Approach to the Management of Extreme Hypernatremia Using Continuous Kidney Replacement Therapy and Hypertonic Saline by Bahar Barani, Xuexin Lu, Darcy Weidemann, Judith Vansickle, Vimal Chadha, and Nathan Beins

    A Novel “Stairstep” Approach to the Management of Extreme Hypernatremia Using Continuous Kidney Replacement Therapy and Hypertonic Saline

    Bahar Barani, Xuexin Lu, Darcy Weidemann, Judith Vansickle, Vimal Chadha, and Nathan Beins

    Hypernatremia is defined as a serum sodium greater than 145 mEq/L and is due to either a deficit of free water or excess sodium intake. Extreme hypernatremia (sodium level > 190 mEq/L) is immediately life–threatening with mortality rates > 60%. It is especially challenging to avoid complications, such as permanent neurological injury, respiratory failure, and profound electrolyte derangement, when children are in kidney failure. Established guidelines are lacking for correcting such extreme levels due to a paucity of information in the literature, although general recommendations are to decrease levels by no more than 10-12 mEq/L per day to prevent neurological complications. We report a case series of two infants with extreme hypernatremia due to salt intoxication with anuric kidney failure that were successfully managed with continuous kidney replacement therapy (CKRT) with modification of dialysate sodium composition, in conjunction with careful titration of intravenous fluid therapy. The first case involved a 3-month-old with end stage kidney disease, with home peritoneal dialysis use, presenting with a sodium of 222 mEq/L due to iatrogenic salt intoxication. Complications included multisystem organ failure, subdural hemorrhage, cardiac arrest with subsequent myocardial dysfunction requiring multiple inotropes, respiratory failure, and severe liver dysfunction. Sodium levels normalized over 10 days of “stairstep” CKRT with sodium additives with fine-tuning hypertonic saline and normal saline (See Figure 1). One year later, he has no neurologic sequelae and continues to meet all age-appropriate developmental milestones. The second case was a 9- month-old with congenital heart disease who presented with sodium of 196 mEq/L due to iatrogenic salt intake, severe dehydration, and anuric kidney failure. Complications included pulmonary embolism. Her sodium was corrected after 5 days with the same strategy as above (See Figure 2). At 4-month follow-up, no adverse neurological or cardiac sequelae were noted. Both CKRT prescriptions utilized low clearance of 500 ml/min/1.73m2 and every 12-24 hours CKRT dialysate bags were changed to achieve a sodium reduction of about 10 meq/L per day. In summary, this presents a novel approach to severe hypernatremia in patients with acute or chronic kidney failure through individualized CKRT strategies and judicious fluid therapy.

  • Does a “True Bovine Arch” Exist? Prenatal Diagnosis of a Unique Arch Anomaly in a Neonate with Absent Ductus Venosus by Jenna Schermerhorn, Mohamed Aashiq Abdul Ghayum, Laura Kuzava, Sanket Shah, and Anmol Goyal

    Does a “True Bovine Arch” Exist? Prenatal Diagnosis of a Unique Arch Anomaly in a Neonate with Absent Ductus Venosus

    Jenna Schermerhorn, Mohamed Aashiq Abdul Ghayum, Laura Kuzava, Sanket Shah, and Anmol Goyal

    Introduction: The origin of all head and neck vessels from a single aortic root – “True Bovine Arch” - is an extremely rare arch anomaly that has been rarely reported in literature. Clinical Presentation: A 28-year-old G2P1 woman was referred at 27-weeks-gestation for concerns of absent ductus venosus and suspected common atrioventricular valve defect. Fetal echocardiogram revealed bilateral Superior Vena Cava (SVC), dominant left SVC, absent ductus venosus, moderate sized posterior muscular Ventricular Septal Defect (VSD), biventricular dilation with preserved systolic function and a unique arch anomaly with all head and neck vessels arising from a single trunk off the aorta. Postnatal transthoracic echocardiography and CT angiogram confirmed the diagnosis of a true bovine arch with no concerns for coarctation or persistence of a 5th aortic arch. Further systemic imaging revealed dysgenesis of corpus callosum and butterfly vertebrae. A whole exome sequencing was non-diagnostic. Serial follow up echocardiograms revealed the VSD had become restrictive and smaller in size, however, there has been a serial increase in aortic root and ascending aorta dimension. Imaging Findings: Figure 1a shows a sagittal view of the aortic arch with unique branching pattern of all head and neck vessels arising from a single aortic root. Figure 1b and 1c shows post-natal confirmation of the unique aortic arch anomaly via TTE and CTA respectively. Role of Imaging in Patient Care: Accurate prenatal identification of cardiac and aortic arch anomalies is paramount for prenatal counseling, genetic diagnosis, delivery planning and postnatal management. CTA can complement pre and postnatal suspicion for appropriate surgical and endovascular procedural planning. Discussion: The origin of all head and neck vessels from a single aortic root is an extremely rare arch anomaly that has been seldom reported in literature with no documented prenatal identification. A “true bovine arch” refers to a single arterial trunk off the aortic arch that trifurcates into both subclavian arteries and a common bi-carotid trunk—mirroring the configuration found in cattle. Although a common brachiocephalic trunk is considered a normal variant, it has been shown to have a higher likelihood of developing ascending aortic aneurysm and embolic cerebrovascular accidents, a possibility even more likely to happen in our patient with unique arch branching. This could be secondary to hemodynamic variations and sheer stress from an altered angle of branching of the great vessels making identification of these variations vital for risk assessment prior to procedures. Accurate pre-natal delineation of the head and neck vessels can aid in appropriate prenatal counseling, genetic diagnosis, delivery planning and postnatal management especially when associated with critical aortic abnormalities. CT angiogram can complement pre and postnatal suspicion for appropriate surveillance guidelines and pre-procedural planning for surgical and endovascular procedures.

  • Epidemiology and Microbiology of Admission Surveillance Nasal Swabs in a Level IV Neonatal Intensive Care Unit (NICU) and Their Association with Subsequent Infections ​ by Kedar Tilak, Neena Kanwar, Rangaraj Selvarangan, and Venkatesh Sampath

    Epidemiology and Microbiology of Admission Surveillance Nasal Swabs in a Level IV Neonatal Intensive Care Unit (NICU) and Their Association with Subsequent Infections ​

    Kedar Tilak, Neena Kanwar, Rangaraj Selvarangan, and Venkatesh Sampath

    Background Newborns, especially preterm infants, are highly susceptible to sepsis, a major cause of neonatal morbidity and mortality. Known risk factors include prematurity, low birth weight, prolonged NICU stay, and use of central venous catheters. The link between early nasal colonization (within the first week of life) and later infections is unclear. Although many NICUs screen for Staphylococcus aureus using nasal swabs, the predictive value of early colonization by other Gram-positive and Gram-negative bacteria is not well understood. In our NICU, admission nasal swabs were sent for aerobic cultures to detect these organisms, highlighting the need for further research into their clinical significance and associated risk factors. Objectives The primary aim of this study is to identify epidemiological risk factors associated with early nasal colonization by Gram-positive and Gram-negative bacteria, as detected by aerobic cultures from surveillance swabs in neonates. The secondary aim is to examine the relationship between initial nasal colonization and the development of subsequent infections caused by these organisms during the NICU stay. Design/Methods We conducted a retrospective chart review of neonates admitted to our Level IV NICU from July 2021 to June 2023 with positive aerobic cultures from admission nasal swabs. Only infants under one week old on admission were included. Data collected included demographics, birth details, hospitalization course, and episodes of culture-positive sepsis. A total of 250 neonates met inclusion criteria. We are analyzing associations between maternal and neonatal risk factors (e.g., race, maternal age, prematurity, low birth weight, antenatal infections) and nasal colonization, as well as links between colonizing organisms and later infections. Statistical methods include chi-square tests and logistic regression. Results will be available by July 2025.

  • High-Frequency and Conventional Ventilation in Very Low Birth Weight Neonates During Interfacility Transport by Trevor Cabrera, Janelle R. Noel-Macdonnell, and Emily McNellis

    High-Frequency and Conventional Ventilation in Very Low Birth Weight Neonates During Interfacility Transport

    Trevor Cabrera, Janelle R. Noel-Macdonnell, and Emily McNellis

    Background: Very low birth weight (VLBW) neonates (≤1500 grams) transported across neonatal facilities often require advanced respiratory support, including high-frequency ventilation (HFV). While HFV use in this setting has increased, data evaluating its safety and efficacy in the VLBW population remain limited. We hypothesized that HFV will provide a safe modality to transport sick VLBW infants. Objectives: To present a comparative experience of safety and efficacy of HFV and CV in VLBW neonates during interfacility transport. Methods: We retrospectively reviewed neonates ≤1500g who received invasive ventilation during interfacility transport by our transport team between January 2019 and December 2022. HFV was delivered using ……, while conventional ventilation (CMV) was delivered via ………Demographic, clinical, transport characteristics, ventilator settings, and respiratory variables were collected. We compared primary outcomes under three categories: (1) ventilatory stability assessed by hypocarbia (pCO2 < 35) or hypercarbia (pCO2 >55) at the end of transport; (2) respiratory complications during transport; and (3) transport mortality. Results: A total of 122 neonates met inclusion criteria; 37 (30%) received HFV and 85 (70%) received CV. Neonates transported on HFV were more likely to have been born at younger gestation, transferred at ≥24 hours old, have a history of PROM or PPROM, require higher FiO2 and have higher pCO2 levels at the transferring facility (Table 1). Upon arrival at the accepting facility, both groups had comparable admission pCO₂, pH, blood pressure, and oxygenation, despite higher FiO₂ and more frequent pressor use in the HFV group. No cases of pulmonary hemorrhage, pneumothorax, or death occurred during transport. HFV patients had longer ground and total transport times. Chest radiographs showed a non-significant trend toward more frequent hypo-/hyperinflation in the HFV group (Table 2). Conclusion: Our retrospective study suggests that both HFV and CV are associated with safe transport and comparable immediate post-transport physiological outcomes in VLBW neonates requiring interfacility transport with invasive ventilation. Despite being more critically ill requiring higher ventilatory support, neonates transported on HFV achieved similar ventilatory stability without increased risk of respiratory complications or mortality. These findings support the feasibility and safety of HFV during neonatal transport of VLBW infants. Future studies will define the clinical parameters that guide preference of HFV vs. CMV for choice of respiratory support. ,

  • No Suspicion for NOCARH: A Cautionary Tale of Anchoring Bias by Nicole DeMarco, Julia Allyson Hays, Bonnie Sullivan, Michael Price, Kimberly A. Horii, and Shannon Haines

    No Suspicion for NOCARH: A Cautionary Tale of Anchoring Bias

    Nicole DeMarco, Julia Allyson Hays, Bonnie Sullivan, Michael Price, Kimberly A. Horii, and Shannon Haines

    Introduction: Neonatal onset of cytopenia autoinflammation rash and hemophagocytic lymphohistiocytosis syndrome (NOCARH), a subset of hemophagocytic lymphohistiocytosis (HLH), is a rare and life-threatening condition characterized by uncontrolled immune response. It presents a diagnostic challenge in neonates due to the overlap of clinical features with other conditions, particularly congenital infections. We report a case of NOCARH in a late pre-term neonate, highlighting an atypical age group and the diagnostic difficulty of this syndrome. Case Presentation: A 1 day old ex-35 week er neonate presented to a level 4 NICU with chief complaints of pancytopenia,; an extensive petechialmaculopapular rash of on the her extremities, torso, and face ; e, abdominal distention;, hepatomegaly ; abnormal findings on abdominal film ; , and a systolic murmur . Initial symptoms prompted concern for congenital infection s, as well asand necrotizing enterocolitis. Comprehensive infectious disease testing yielded negative results. She was subsequently evaluated for immunodeficiency, liver, and thyroid associatedrelated diseases. Persistent profound pancytopenia, lymphadenopathy, elevated inflammatory markers, episodic rashes, growth failure, worsening cholestasis, and new onset lymphadenopathy episodic rashes at three weeks of age prompted expansion of differential and evaluation for NOCARH despite not fitting clearly into diagnostic criteria . Bone marrow biopsy confirmed the diagnosis with findings of hemophagocytosis without malignancy. Genetic evaluation identified a heterozygous pathogenic CDC42 mutation consistent with NOCARH syndrome. Management: Treatment included the administration of dexamethasone, intravenous immunoglobulin, and emapalumab, a monoclonal antibody targeting IFN-γ. Prophylactic Aantimicrobials were initiated for prophylaxis in the setting of her immunosuppression. Outcomes and Follow-up: The patient demonstrated clinical stabilization with improved resolving cytopenia and reduction in inflammatory markers. Her health ultimately improved , ultimately being able to beenough to discharged home with close follow-up with specialized care and ongoing multidisciplinarymultiple subspecialists , including Gastroenterology and Oncology follow-up. Bone marrow transplantation is planned to achieve long-term disease control. Conclusion: This case highlights the hazards of anchoring bias when evaluation for initial suspected medical condition is inconclusive. Early diagnosis and targeted therapy are critical to improving outcomes in this rare, high-mortality condition. Pediatricians and neonatologists should be aware of the potential for HLH to present in neonates, particularly in association with genetic syndromes like NOCARH. Introduction: Neonatal onset of cytopenia, autoinflammation, rash, and hemophagocytic lymphohistiocytosis syndrome (NOCARH), a subset of hemophagocytic lymphohistiocytosis (HLH), is a rare and life-threatening disorder driven by uncontrolled immune activation. Diagnosis in neonates is challenging because its features overlap significantly with congenital infections and other systemic inflammatory conditions. We present a case of NOCARH in a late preterm neonate, illustrating the diagnostic complexity and importance of early recognition in an atypical age group. Case Presentation: A 1-day-old ex-35-week neonate was admitted to a level IV NICU with pancytopenia, widespread petechiae, abdominal distention, hepatomegaly, and a systolic murmur. The initial differential diagnosis included congenital infections. Broad infectious workup was unrevealing. Over the next three weeks, the infant exhibited persistent cytopenia, lymphadenopathy, elevated inflammatory markers, and recurrent episodic rashes, raising suspicion for HLH/NOCARH despite not fully meeting diagnostic criteria. Bone marrow biopsy revealed hemophagocytosis without malignancy,

  • Pursuit of A Full Night's Sleep by Kennison Adams, Andrew Donaldson, and Brian S. Harvey

    Pursuit of A Full Night's Sleep

    Kennison Adams, Andrew Donaldson, and Brian S. Harvey

    This project was a literature review and reflection upon the importance of having an osteoid osteoma on the differential for adolescent hip pain. The primary objective highlighted key attributes of this pathology and instructed readers to be vigilant in their assessment so that quicker diagnosis, management, and return to sport could occur.

  • Recombinant erythropoietin use for anemia of prematurity: a three year since center experience by Hannah Darland, Krishna Dummula, Chaitali Mahajan, and Vishal Pandey

    Recombinant erythropoietin use for anemia of prematurity: a three year since center experience

    Hannah Darland, Krishna Dummula, Chaitali Mahajan, and Vishal Pandey

    Background: Anemia is a common disorder of prematurity secondary to limited blood volume, excessive blood draws, inadequate nutrition, poor iron reserves, and insufficient endogenous erythropoietin. While many NICUs use recombinant erythropoietin (rEpo) to treat anemia of prematurity, the absence of universal guidelines has led to variability in dosing and schedules. Here we present our experience on the use of rEpo in a level 3 NICU. Our unit protocol uses 400 IU/kg three times a week for a total of 9 doses if hematocrit < 30%. Objectives: The purpose of this study was to evaluate the response to rEpo in infants with anemia of prematurity. Methods: Charts of infants born between 2018 and 2020 with gestation ≤34 weeks who received rEpo for anemia of prematurity were retrospectively reviewed. We defined response to therapy as an increase of hematocrit by 5% from pre-treatment baseline. Infants who did not achieve the therapeutic goal or who received blood transfusions were considered non-responders. Neutropenia, thrombocytopenia, and retinopathy of prematurity (ROP) requiring treatment were treated as adverse events. Results: A total of 44 infants were treated with rEpo during the study period. Clinical characteristics are described in Table I. Average hematocrit at birth was 44.8±7.5 (32.7 to 60.8). Infants were started on rEPO at a median corrected age of 33.3 ±3 weeks and a weight of 1674±622 g. Average DOL was 37±18 at initiation of therapy. Average baseline hematocrit at the start of therapy was 27.9±1.8%. 80% of patients (35/44) responded with increase of hematocrit by >5%, 20% (9/44) did not respond. 75% of infants (33/44) received all 9 doses. 11 patients received between 1-8 doses. Reasons for discontinuation of rEpo were: discharge prior to therapy completion (36%, 4/11), blood transfusion (27%, 3/11), neutropenia (27%, 3/11), and ROP progression (9%, 1/11). Average increase of hematocrit in the responders was 7.3±2.9%. In all, 11.4% of patients (5/44) developed neutropenia- none with ANC< 500 neutrophils/µl. None developed thrombocytopenia but 13.6% (6/44) had thrombocytosis >450,000 platelets/µl. 4.5% (2/44) required treatment for severe ROP, and no deaths occurred. Conclusion: rEpo was efficacious in increasing the hematocrit in the majority (80%) of convalescent preterm infants. Neutropenia observed during the therapy was mild-to-moderate (between 501-1500 neutrophils/µl) and did not result in invasive sepsis. Larger prospective comparative-dosing studies are needed to determine the ideal dose and timing of rEpo therapy in growing preterm infants to prevent late blood transfusions.

  • Severe Thiopurine-Induced Myelosuppression in a Pediatric ALL Patient with the NUDT15 *1/*6 Genotype by Jillian Fry, Keith August, Terrie Flatt DO, and Laura B. Ramsey

    Severe Thiopurine-Induced Myelosuppression in a Pediatric ALL Patient with the NUDT15 *1/*6 Genotype

    Jillian Fry, Keith August, Terrie Flatt DO, and Laura B. Ramsey

    Introduction: Genetic variants in TPMT and NUDT15 that affect the metabolism of mercaptopurine (6MP) are routinely tested for to guide 6MP dosing. Nudix hydroxylase 15 (NUDT15) deficiency can cause myelosuppression when affected patients are treated with 6MP. The NUDT15 *6 allele is classified as having uncertain function by the Clinical Pharmacogenetics Implementation Consortium Guidelines given insufficient data to determine its phenotype. Here, we present the case of a pediatric patient with the NUDT15 *1/*6 genotype experiencing significant mercaptopurine-induced myelosuppression. Case Description: We present a 4-year-old female with standard risk-average precursor B-cell acute lymphoblastic leukemia treated per AALL1731. Exome sequencing reported TPMT *1/*1 (Normal Metabolizer) and NUDT15 *1/*6 (Indeterminate). In Maintenance Cycle 1, 6MP was started at standard dosing of 75 mg/m2/day. On Cycle 1 Day 29, her absolute neutrophil count (ANC) and platelets had decreased but remained within goal range. At that time, 6-thioguanine nucleotides (6-TGN) were at the higher end of normal at 445 pmol/8 x 108 RBC, and 6-methylmercaptopurine (6-MMP) was elevated at 9200 pmol/8 x 108 RBC. On Cycle 1 Day 47, she developed increased bruising and was found to have severe neutropenia with an ANC of 0.03 x 103 mcL and thrombocytopenia with platelets of 5 x 103 mcL. 6-TGN were relatively unchanged at 440 pmol/8 x 108 RBC, but 6-MMP had significantly increased to 16,177 pmol/8 x108 RBC. Given the degree of myelosuppression, 6MP was held. Her ANC and platelets did not recover until Cycle 1 Day 64, at which time 6MP was restarted at 50% of the original dose. She has not required any additional dose changes or disruption in Maintenance Cycle 2. Conclusions: This case suggests that patients with the NUDT15 *1/*6 genotype could be treated as intermediate metabolizers with higher risk of toxicity than those with wild-type NUDT15 and require dose reduction.

  • A Multipronged Approach to Developing & Marketing Asynchronous Resources to Faculty by Heather McNeill; Emilie Keeton, MSOD; Enam Haddad; Myles Chandler; Eric T. Rush; and Jacqueline Hill

    A Multipronged Approach to Developing & Marketing Asynchronous Resources to Faculty

    Heather McNeill; Emilie Keeton, MSOD; Enam Haddad; Myles Chandler; Eric T. Rush; and Jacqueline Hill

    What suggested GFA topic does your submission align with? Organizational Policies, Practices and Procedures Intended/Target Audience Seasoned Faculty and Staff Mid-Career Faculty and Staff New Faculty and Staff Description Faculty have limited time for professional development. We piloted an approach to create and actively promote curated asynchronous professional development resources in five targeted topic areas and recorded resource use over two academic years (July 2023-July 2025). Since July 2023, we had 4,543 unique daily views; more than half (n=2,319) were views of academic promotion resources. Asynchronous resources engaged faculty in professional development topics, especially academic promotion. Additional information: Background: Faculty have limited time for professional development necessary for career advancement. Goal: Pilot an approach to develop and promote asynchronous faculty development resources at our pediatric teaching hospital. Methods: We created resources (e.g., how-to guides, templates, recordings) in topic areas such as academic promotion and professional development. The resources are hosted on SharePoint sites and cataloged on intranet pages, allowing us to track daily resource usage by area. We promoted the resources through targeted communications and presentations and recorded views from July 2023 to July 2025. Outcomes: From July 2023 to December 2024, we had 4,543 unique daily views. More than half (n=2,319) were views of promotion resources. Full data will be available at the conference. Conclusion: Our approach engaged faculty in asynchronous learning on faculty development topics, especially academic promotion. These data will inform changes to our resource catalogs. Learning Objectives After participating in this session, attendees should be able to… 1. Recognize the need for asynchronous resources among faculty 2. Explain how asynchronous resources can engage faculty in professional development 3. Identify opportunities to develop and promote asynchronous resources for faculty

  • A Risk Score to Predict Recurrent High Intensity Inpatient Resource Utilization for Children with Medical Complexity. by Charles Maloy, Jessica L. Bettenhausen, Y Raymond Chan, Leah Jones, Kathryn Kyler, Laura Plencner, Jessica Markham, Jacqueline Walker, Smit Shah, Sian Best, Jonathan Ermer, Shelby Chesbro, Maria Newmaster M.D., and Henry T. Puls

    A Risk Score to Predict Recurrent High Intensity Inpatient Resource Utilization for Children with Medical Complexity.

    Charles Maloy, Jessica L. Bettenhausen, Y Raymond Chan, Leah Jones, Kathryn Kyler, Laura Plencner, Jessica Markham, Jacqueline Walker, Smit Shah, Sian Best, Jonathan Ermer, Shelby Chesbro, Maria Newmaster M.D., and Henry T. Puls

    Background Children with medical complexity (CMC) use a greater amount of inpatient resources and stand to benefit from unique care models and coordination. However, hospital resources can be limited, and a better understanding of which CMC are high resource users could improve hospital and staff planning. Objective: To develop a risk score predictive of recurrent high intensity inpatient utilization among CMC. Methods: We conducted a retrospective cohort study of children < 18 years old with ≥3 complex chronic conditions (CCC) discharged from one of 48 children’s hospitals in the Pediatric Health Information System during 2021 and 2022. To reflect CMC typically cared for by a general medical service, children with cardiac procedures, dialysis, oncology, or transplant CCCs, and index hospitalization mortality were excluded. We used multivariable logistic regression to determine factors present on the index hospitalization associated with ≥5 hospitalizations or ≥3 hospitalizations with one lasting ≥25 days within any 365-day period (high inpatient utilization) in 2021-2023. We developed risk scoring system using model coefficients and defined the optimal risk score cutoff to maximize sensitivity and specificity. We then applied the risk score cutoff to children discharged to determine (a) ratio of predicted:actual CMC with recurrent high resource use and (b) the total predicted daily volume on 50th, 75th, and 90th percentile days for each hospital. Results: Of 44,432 included children , 9,596 (21.6%) had high inpatient utilization (Table). Children under 1 year of age had the highest odds of high inpatient utilization (OR 2.26 [95% CI: 2.16, 2.37]) and all CCC and technology groups (except metabolic) met statistical significance (Figure 1). The optimal risk score cutoff was 29 and predicted 17,411 (39.2%) CMC as high inpatient resource utilizers; the predicted:actual ratio of CMC with high inpatient utilization was 1.81. The mean daily census of the 50th, 75th, and 90th percentiles across hospitals was 28 CMC with recurrent high utilization (± 17), 34 (±18), and 39 (±19; Figure2). Conclusions: It is feasible to develop a risk score predictive of recurrent high inpatient utilization among CMC. There is substantial variability in volume of CMC with high utilization between pediatric hospitals. The risk score cutoff values can be modified to suit different applications and institution-specific objectives. These applications could include a dedicated service line or staffing. Alternatively, this could identify patients who would benefit from more formal handoff from inpatient to outpatient providers.

  • A Case of Early Pediatric-Onset Multiple Sclerosis by Mellanie De Guzman and Marcy Vandament

    A Case of Early Pediatric-Onset Multiple Sclerosis

    Mellanie De Guzman and Marcy Vandament

    Pediatric-onset multiple sclerosis (POMS) is a central nervous system neurodegenerative disease impacting individuals who experience symptom onset prior to the age of 18-years-old.17 Children and adolescents diagnosed with POMS prior to 16-years-old are considered as early POMS cases. 1,6,10,11, 18 The current case study presents an 11-year-old boy, “Patient A,” who was diagnosed with POMS at 10-years-old. Common neurocognitive weaknesses and behavioral concerns seen in this patient population include deficits in language (receptive, expressive, verbal fluency), memory, attention, executive functions, processing speed, visual-motor/fine-motor coordination/dexterity, depression, anxiety, and fatigue.2-5,15,20 Results from testing demonstrated mild weaknesses in abstract reasoning and fine motor coordination/dexterity. Qualitative concerns surrounding executive functioning and mild depression were reported. Overall, no significant cognitive or behavioral concerns were revealed. Therefore, no additional diagnoses were provided aside from Patient A’s historical diagnosis of POMS. Establishing a neurocognitive baseline for patients diagnosed with early POMS is pivotal for the monitoring of their cognitive, behavioral, and adaptive functioning over time. Incorporation of a pediatric neuropsychologist as part of the patient’s treatment team and the implementation of comprehensive neuropsychological evaluations can support this goal of longitudinal comparison.

  • Scoring Large Muscle Movements in Pediatric Sleep Studies: An Educational Module for Sleep Technologists by Shauna Michelle VanDoren and David G. Ingram

    Scoring Large Muscle Movements in Pediatric Sleep Studies: An Educational Module for Sleep Technologists

    Shauna Michelle VanDoren and David G. Ingram

    Introduction Restless Sleep Disorder (RSD) has recently been recognized as a distinct sleep disorder, with Large Muscle Movement (LMM) scoring being a crucial component of its diagnostic criteria. This project aimed to develop and implement an online educational module to enhance the knowledge and skills of sleep technologists to accurately score LMMs. Methods We constructed an online learning module that included training on the identification and scoring of LMMs in pediatric sleep studies. The module consisted of a 10-question pre-assessment, the educational content (which explained the background of RSD diagnosis, the role of LMMs in diagnostic criteria, and current scoring rules), a repeat of the 10 questions for post-assessment, and a feedback section regarding the module and LMM scoring in general. Results Preliminary results indicate a significant improvement in the accuracy and consistency of LMM scoring among sleep technologists who completed the module. The average post-module assessment scores showed a marked increase compared to pre-module scores, with total scores on the 10-question learning assessment increasing from 63.3+/-20.6% pre-module to 90.0+/- 8.9% post-module (p=0.017). Eighty percent of technologists agreed or strongly agreed with the statement that “As a result of taking this course I am confident I can recognize the clinical characteristics, symptoms, and diagnostic criteria of RSD.” Similarly, 60% agreed or strongly agreed with the state that “As a result of taking this course, I am confident I can accurately apply scoring guidelines for LMM events in sleep studies.” Feedback from technologists regarding the module itself, as well as questions and suggestions regarding LMM scoring in general, provided valuable information for potential future revisions of scoring rules. Conclusion An online educational module significantly improved the knowledge and ability of sleep technologists to score LMMs accurately, thereby aiding in the diagnosis of RSD. This initiative highlights the importance of continuous education and training in maintaining high standards of care in pediatric sleep studies.

  • When Macroglossia is not Beckwith-Wiedemann: A Case of an Infant with Congenital Central Hypoventilation Syndrome by Shauna Michelle VanDoren and Samira Naime

    When Macroglossia is not Beckwith-Wiedemann: A Case of an Infant with Congenital Central Hypoventilation Syndrome

    Shauna Michelle VanDoren and Samira Naime

    Introduction Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder caused by the mutation of the paired-like homeobox 2B (PHOX2B) gene that leads to alveolar hypoventilation during sleep and at times while awake. The majority of patients with CCHS have polyalanine repeat mutations (PARM) whereas 10% have non-PARM (NPARM). Of those with NPARM, less than 1% are caused by whole gene deletion. NPARM is associated with more severe phenotypes; however, some may have variable penetrance causing variable presentation within families. Report of case(s) Our patient is a 4-month-old infant born at 32 weeks in an outside hospital and transferred to our tertiary NICU at 10 weeks of age due to feeding difficulties, respiratory distress, hypoxemia, macroglossia and concern for Beckwith-Wiedemann syndrome. Upon transfer, she was on 2L of oxygen (FiO2: 0.3) via high flow nasal cannula. During her stay, she was noted to have hypoventilation which was thought to be secondary to upper airway obstruction. Upper airway evaluation by ENT revealed mild laryngomalacia for which supraglottoplasty was performed. Drug induced sleep endoscopy (DISE) revealed macroglossia with posterior displacement of the epiglottis causing obstruction. Due to concerns for obstruction and persistent hypoxemia, she was referred for a polysomnogram (PSG). The study was started on room air, but 1/4L of oxygen via low flow nasal cannula (LFNC) was initiated after 6 minutes due to persistent hypoxemia and hypoventilation. PSG showed an apnea hypopnea index (AHI) of 18/hour, central apnea index (CAI) of 11/hour with persistent nocturnal hypoventilation based on ETCO2, transcutaneous CO2 monitor (TCM) and blood gas (ETCO2 > 50mmHg for 85% of total sleep time (TST), max ETCO2: 62mmHg, TCM>50mmHg for 96% TST, peak TCM: 70mmHg). Given these findings, recommendations were made to obtain PHOX2B gene testing and obtain neurologic workup. Exome sequencing showed deletion of the PHOX2B gene consistent with CCHS. Conclusion A high suspicion for CCHS should be present in patients with central apnea and hypoventilation. Many children with CCHS may be missed due to complex genetic testing and variation in clinical presentation.

 

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