Abstract
BackgroundChildhood 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.Case presentationWe 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.ConclusionNEHI 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.
Highlights
Childhood interstitial lung disease is a heterogeneous group of rare disorders characterized by abnormal imaging findings, impaired gas exchange; and is associated with substantial morbidity and mortality
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 Childhood interstitial lung disease (chILD); eventually a diagnosis of Neuroendocrine cell hyperplasia (NEHI) was made
NEHI is a disorder of unknown etiology that typically manifests with chronic tachypnea, retractions, hypoxemia and failure to thrive, insidiously appearing in the first year of life
Summary
NEHI is a disorder of unknown etiology that typically manifests with chronic tachypnea, retractions, hypoxemia and failure to thrive, insidiously appearing in the first year of life. The patient was initially hospitalized presenting with non-specific features of acute hypoxemia, crackles and tachypnea; his misleading clinical history of recurrent episodes of wheezing associated with respiratory infections led to a first diagnosis of bronchiolitis and resulted in a delayed NEHI diagnosis. In his first 5 months of life he did not present with failure to thrive, which is one of the key features in chILD disorders.
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