Neuroendocrine cell hyperplasia of infancy

Neuroendocrine cell hyperplasia of infancy (NEHI), also known as persistent tachypnea of infancy, is a rare childhood interstitial lung disease (chILD) characterized by an increased number of neuroendocrine cells (specifically pulmonary neuroendocrine cells, or PNECs) in the small airways of the lungs. It primarily affects the respiratory system and typically presents in the first year of life with persistent tachypnea (rapid breathing), retractions (visible pulling in of the chest wall during breathing), crackles heard on auscultation, and hypoxemia (low blood oxygen levels). Affected infants often also exhibit failure to thrive due to the increased work of breathing and difficulty feeding. NEHI is considered a relatively benign form of interstitial lung disease compared to other childhood ILDs, as it does not cause progressive fibrosis or structural lung damage. The diagnosis is often suggested by characteristic findings on high-resolution computed tomography (HRCT) of the chest, which typically shows ground-glass opacities predominantly in the right middle lobe and lingula. Definitive diagnosis historically required lung biopsy demonstrating increased bombesin-immunoreactive neuroendocrine cells, though the characteristic CT pattern is increasingly accepted as diagnostic in the appropriate clinical context. There is no specific targeted therapy for NEHI. Treatment is primarily supportive and may include supplemental oxygen to maintain adequate blood oxygen levels, nutritional support to address failure to thrive, and prevention of respiratory infections. Corticosteroids and other anti-inflammatory medications have generally not been shown to be effective. The prognosis is generally favorable, with most children showing gradual clinical improvement over months to years, though some may continue to require supplemental oxygen for an extended period. Symptoms typically improve significantly by school age, though mild exercise intolerance or respiratory symptoms may persist in some individuals.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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