Beyond the Neonate: A Delayed Presentation of Congenital Diaphragmatic Hernia in a 17-Year-Old.

Congenital diaphragmatic hernia (CDH) is a rare anomaly resulting from incomplete closure of pleuroperitoneal canals during fetal development, often presenting with acute respiratory distress in neonates. This case report highlights a 17-year-old female with recurrent episodes of acute left upper quadrant (LUQ) pain and no history of trauma or dietary change. A computerized tomography (CT) scan taken during her second presentation to the emergency department led to a diagnosis of left-sided CDH. She later had a successful laparoscopic diaphragmatic repair surgery and has remained symptom-free for over a year. Late-presenting CDH indicates a rare subset of cases diagnosed after one month of age. Late presentations comprise 5-25% of cases and become increasingly rare with age. Unlike neonatal CDH, which is associated with several comorbidities, late presentations often manifest as a standalone anomaly. When the correct diagnosis is made, uncomplicated surgical repair yields excellent long-term outcomes. However, delayed and incorrect diagnoses can result in serious morbidity. Late-presenting CDH has diverse clinical presentations and can elude diagnostic imaging. As a result, there is a need for heightened clinical suspicion. This report aims to enhance awareness of late-presenting CDH and explore challenges to prompt, accurate diagnosis. Ultimately, this study implores clinicians to consider this condition in patients with unexplained respiratory or gastrointestinal symptoms.

Acute Visual Disturbances and Ataxia Secondary to Attempted COVID-19 Prophylaxis With Ivermectin in a Nine-Year-Old.

Ivermectin is an antiparasitic agent listed as an essential medication by the World Health Organization. Ivermectin utilization has increased due to the popular, though inaccurate, perception of its use in COVID-19 management. Poison Control Central calls regarding ivermectin toxicity have increased 245% since pre-pandemic baselines. This case study illustrates the clinical presentation of ivermectin toxicity in a nine-year-old child with acute vision changes and ataxia. The child was given 60 mg (1 mg/kg) of veterinary-grade ivermectin by a parent, 10 times the clinically recommended dose of 0.1 mg/kg, as prophylaxis after household exposure to COVID-19. Ten hours later, the child developed new-onset blurry vision, a perception of red dots in the peripheral vision, dizziness, and balance issues. Physical examination was notable for pulsating pupils, ataxia, and dysmetria. Symptoms resolved completely after 10 hours. Ivermectin ingestion is an important diagnostic consideration in children presenting with similar symptoms. We hope our case aids in the identification of ivermectin toxicity and hastens necessary supportive measures.

Wearable Technology Leads to Initial Workup of Graves' Disease in an Adolescent Female.

Graves' disease is the most common form of hyperthyroidism in the pediatric population. While the most prevalent symptoms seen in children with Graves' disease include goiter and excessive sweating (Minamitani et al., 2017), diagnosis is frequently delayed due to presentation with non-specific symptoms (Léger et al., 2018). This case report is of a 12-year-old female who presented to her pediatrician with a one month history of episodes of tachycardia both with physical exertion and at rest. Notably, these episodes were discovered on her electronic smartwatch by its heart rate monitoring feature. Further pertinent positives elicited in the patient's review of systems included increasing anxiety, diaphoresis, intermittent hand tremors, and recent weight loss. These findings led to further workup that included thyroid studies, culminating in a diagnosis of Graves' disease. Indeed, this patient's smartwatch aided in her initial presentation to her physician and allowed for prompt workup and diagnosis. There exist limited studies to date on the use of smartwatches to detect cardiac-related conditions in children, which may be due to the absence of Food and Drug Administration approval for certain cardiac-related smartwatch features in this patient population.

Talon Noir in a Young Baseball Player: A Case Report.

When evaluating pediatric patients with hyperpigmented lesions on the plantar aspect of the feet, the differential diagnosis should include talon noir, acral melanoma, and verruca with thrombosis. Talon noir are asymptomatic brown-black pigmented macules formed by intraepidermal hemorrhages of the feet caused by shear-force injury. Spontaneous resolution of talon noir typically occurs within 2-3 weeks. Clinicians should ensure that their patients who participate in sports have appropriately fitting shoes, which may prevent these lesions from occurring. This case report highlights a unique case of talon noir occurring in a young baseball player with an atypical distribution of plantar macules.

Performance and Impact of a CLIA-waived, Point-of-care Respiratory PCR Panel in a Pediatric Clinic.

BACKGROUND: Laboratory-based respiratory polymerase chain reaction (PCR) panels are rarely used in outpatient pediatric practice due to prolonged turn-around times and cost of medical equipment. The BioFire FilmArray Respiratory Panel EZ (RP EZ) is a Clinical Laboratory Improvement Amendments-waived respiratory pathogen PCR panel which rapidly tests for 14 common respiratory organisms. The aim of this study was to identify the distribution of organisms seen in pediatric clinics and to determine if utilization of this point-of-care test improved disease management, while exploring impact on clinic workflow. METHODS: From January 2018 through January 2019, when clinically appropriate, patients were tested by the RP EZ and/or antigen tests (Clinic A) or antigen test only (Clinic B). Residual samples from Clinic B antigen tests were frozen and later tested on the RP EZ for definitive pathogen identification. Patient data and prescription records were extracted from the electronic health record. RESULTS: A total of 430 patients had RP EZ tests performed, and at least 1 organism was detected in 70.4% of patients. The most common organisms identified were human rhinovirus/enterovirus, influenza, and respiratory syncytial virus. Appropriate treatment occurred for 93.6% of patients when the RP EZ was performed (Clinic A) versus 87.9% of patients who had only antigen tests performed (Clinic B, P = 0.0445). Utilization of RP EZ testing also significantly reduced appointment duration time (48.0 versus 54.9 minutes, P = 0.0009). Three false-positive influenza B results were identified by antigen testing. CONCLUSIONS: A point-of-care PCR panel improved patient care by providing an accurate diagnosis and shortened appointment duration.

Teaching Students How to Improve Safety and Quality in Two Children's Hospitals: Building a Pediatric Clerkship Patient Safety and Quality Experience.

This report describes a novel method to enhance medical student understanding of systems-based practice and patient safety through experiential learning, assessing the perceived value of student-identified patient safety and systems vulnerabilities, and their proposed interventions at academic children's hospitals.

Rectal Bleeding and Abdominal Pain Following Vaccination in a 4-Month-Old Infant.

Intussusception is one of the most frequent causes of intestinal obstruction in infants. Rotavirus vaccination has been associated with intussusception in the medical literature. We report a case of a 4-month-old female with intussusception requiring hemicolectomy one week following rotavirus vaccination. We review the pathophysiology, presentation, and management of intussusception with a distinct focus on the history of rotavirus vaccination and risks of intussusception associated with timing of rotavirus vaccine administration. The discussion makes a strong case for rotavirus vaccine counseling regarding signs of intestinal obstruction and the importance of early recognition.

Brothers with Smith-Lemli-Opitz syndrome.

Abnormal cholesterol metabolism is the cause of SLOS, with low cholesterol levels and elevated levels of cholesterol precursors thought to contribute to the clinical findings in this syndrome. Management of SLOS involves early intervention with appropriate therapies for identified disabilities, genetic counseling for families, nutritional consultations, educational interventions, and behavioral management. Although no randomized dietary studies have been conducted, cholesterol supplementation continues to be a common recommendation for persons with SLOS, because it may result in clinical improvement and has few adverse effects (Nowaczyk, 2013). Even with early detection and treatment (e.g., sibling B in this case report), persons with SLOS often have significant behavioral issues and cognitive and developmental delays that require a team approach by parents, educators, specialists, and primary care providers.

Symptomatic atlantoaxial instability in an adolescent with trisomy 21 (Down's syndrome).

Atlantoaxial instability (AAI) occurs in 15% of children with Trisomy 21. Health supervision guidelines were revised by the American Academy of Pediatrics in 2011 to reflect advances in care for children with special health care needs (CSHCN). Previous guidelines recommended cervical spine radiological screenings in preschool years to evaluate for atlantoaxial instability. For patients with negative screening, re-screening was recommended if they wished to compete in the Special Olympics, or became symptomatic. We present the case of an adolescent who developed a symptomatic atlantoaxial dislocation despite previous negative radiological screening at the age three (under the 2001 guidelines). This case report highlights the revisions in the 2011 guidelines for health supervision and anticipatory guidance. It underlines the need for a high index of suspicion if symptoms develop. It also addresses the need for a medical home for CSHCN, with health care providers who know the child's baseline health status.