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.

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.