title: Neuroendocrine cell hyperplasia of infancy: an unusual cause of hypoxemia in children.
abstract: BACKGROUND
  Childhood interstitial lung disease (chILD) is a heterogeneous group of rare disorders characterized by abnormal imaging findings, impaired gas exchange; and is associated with substantial morbidity and mortality. Neuroendocrine cell hyperplasia (NEHI) is a unique sub-group, which is more prevalent in infants and children younger than 2 years of age, and typically manifests with chronic tachypnea, retractions, hypoxemia and failure to thrive. NEHI insidiously appears in the first year of life, subtly masquerading as one of the more common lung diseases of childhood. Therefore, the diagnosis of NEHI is challenging and requires a systematic approach.
  
  
  METHODS
  We report a case of an infant, with a history of recurrent respiratory infections and wheezing, who presented with persistent hypoxemia (PaO2 88 mmHg) and chronic respiratory symptoms, that prompted an extensive diagnostic work up for chILD; eventually a diagnosis of NEHI was made.
  
  
  CONCLUSIONS
  NEHI is a rare chILD disorder presenting in the first 2 years of life with common but challenging key clinical features. Increased awareness among pediatricians and prompt recognition of the clinical presentation may enable timely diagnosis and improve disease management and prognosis.
authors.affiliation: Department of Pediatrics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. s.caimmi@smatteo.pv.it.
authors.forename: Silvia
authors.initials: S
authors.lastname: Caimmi
authors.affiliation: Department of Pediatrics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Amelia
authors.initials: A
authors.lastname: Licari
authors.affiliation: Unité d'allergologie, Département de Pneumologie et Addictologie, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France.|Sorbonne Universités, UPMC Paris 06, UMR-S 1136, IPLESP, Equipe EPAR, F-75013, Paris, France.
authors.forename: Davide
authors.initials: D
authors.lastname: Caimmi
authors.affiliation: Department of Radiology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Rispoli
authors.affiliation: Women's and Children's Health Department, Unit of Respiratory Medicine and Allergy, University of Padova, Padova, Italy.
authors.forename: Eugenio
authors.initials: E
authors.lastname: Baraldi
authors.affiliation: Department of Cardiothoracic and Vascular Sciences, Pathological Anatomy Section, University of Padova, Padova, Italy.
authors.forename: Fiorella
authors.initials: F
authors.lastname: Calabrese
authors.affiliation: Department of Pediatrics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Gian Luigi
authors.initials: GL
authors.lastname: Marseglia
mesh_terms: D003241:Consanguinity; D003937:Diagnosis, Differential; D006801:Humans; D006965:Hyperplasia / Q000473:pathology; D000860:Hypoxia / Q000473:pathology*; D007223:Infant; D017563:Lung Diseases, Interstitial / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D055099:Neuroendocrine Cells / Q000473:pathology*
keywords: Ground-glass opacification; Hypoxemia; Interstitial lung disease in children; Neuroendocrine cell hyperplasia; Persistent tachypnea