Neuroendocrine cell hyperplasia of infancy: an unusual cause of hypoxemia in children

被引:8
|
作者
Caimmi, Silvia [1 ]
Licari, Amelia [1 ]
Caimmi, Davide [2 ,3 ]
Rispoli, Anna [4 ]
Baraldi, Eugenio [5 ]
Calabrese, Fiorella [6 ]
Marseglia, Gian Luigi [1 ]
机构
[1] Univ Pavia, Dept Pediat, Fdn IRCCS Policlin San Matteo, Pavia, Italy
[2] CHU Montpellier, Unite Allergol, Dept Pneumol & Addictol, Hop Arnaud Villeneuve, Montpellier, France
[3] UPMC Paris 06, Sorbonne Univ, UMR S 1136, IPLESP,Equipe EPAR, F-75013 Paris, France
[4] Fdn IRCCS Policlin San Matteo, Dept Radiol, Pavia, Italy
[5] Univ Padua, Womens & Childrens Hlth Dept, Unit Resp Med & Allergy, Padua, Italy
[6] Univ Padua, Pathol Anat Sect, Dept Cardiothorac & Vasc Sci, Padua, Italy
关键词
Neuroendocrine cell hyperplasia; Hypoxemia; Interstitial lung disease in children; Persistent tachypnea; Ground-glass opacification; INTERSTITIAL LUNG-DISEASE; PERSISTENT TACHYPNEA; YOUNG-CHILDREN; CLASSIFICATION; MUTATION; NEHI;
D O I
10.1186/s13052-016-0295-y
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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. Case presentation: 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. Conclusion: 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.
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页数:5
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