Case report: Rare lung disease of infancy diagnosed with the assistance of a home pulse oximetry baby monitor.

Neuroendocrine cell hyperplasia of infancy (NEHI) is a rare childhood interstitial lung disease characterized by a gradual onset of tachypnea, hypoxemia, and failure to thrive in the first 2 years of life. NEHI is challenging to diagnose and can masquerade as common respiratory infections and reactive airway disease. Timely diagnosis is essential to optimize management of comorbidities, improve outcomes, and prevent unnecessary interventions. We report a case of a 14-month-old male who was hospitalized multiple times with recurrent episodes of presumed bronchiolitis. However, early on, the parents had detected unexplained nighttime hypoxemia with a wearable home pulse oximetry baby monitor. While recurrent respiratory infections are common in infancy, our patient had numerous persistent symptoms refractory to traditional treatments, which prompted further workup and ultimately led to the diagnosis of NEHI. The home baby monitor provided useful information that accelerated workup for a presentation that did not fit the usual picture of recurrent bronchiolitis, bronchospasm, or pneumonia. These devices that monitor infant cardiopulmonary status and oxygenation are becoming increasingly popular for home use. There is controversy over their clinical utility due to the frequency of false alarms, excessive parental reliance on these devices, and lack of Food and Drug Administration oversight to ensure accuracy and effectiveness of these devices. Our case provides an example of how in certain clinical settings, information from these devices might serve as a complementary tool in the pediatrician's medical decision-making and possibly lead to a rare diagnosis such as NEHI.

Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review.

Refractory epilepsy and encephalopathy are frequently encountered in patients with inborn errors of metabolism. We report a case of an 8-year-old girl with history of developmental delay, autism and intractable epilepsy that was found to have a pathogenic variant in CAD. We briefly review the biochemical pathway of CAD and the preclinical and clinical studies that suggest uridine supplementation can rescue the CAD deficiency phenotypes. Our case demonstrates a relatively late-onset case of refractory epilepsy with a rapid response to treatment using the uridine pro-drug triacetyluridine (TAU), the FDA-approved treatment for hereditary orotic aciduria.