Caimmi Silvia, Licari Amelia, Caimmi Davide, Rispoli Anna, Baraldi Eugenio, Calabrese Fiorella, Marseglia Gian Luigi
Department of Pediatrics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Unité d'allergologie, Département de Pneumologie et Addictologie, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France.
Ital J Pediatr. 2016 Sep 15;42(1):84. doi: 10.1186/s13052-016-0295-y.
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.
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.
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.
儿童间质性肺疾病（chILD）是一组异质性罕见疾病，其特征为影像学检查结果异常、气体交换受损，且与较高的发病率和死亡率相关。神经内分泌细胞增生症（NEHI）是一个独特的亚组，在2岁以下的婴儿和儿童中更为常见，通常表现为慢性呼吸急促、呼吸凹陷、低氧血症和生长发育迟缓。NEHI在生命的第一年隐匿出现，巧妙地伪装成儿童期更常见的肺部疾病之一。因此，NEHI的诊断具有挑战性，需要采用系统的方法。
我们报告一例婴儿病例，该婴儿有反复呼吸道感染和喘息病史，出现持续性低氧血症（动脉血氧分压88 mmHg）和慢性呼吸道症状，这促使对chILD进行了广泛的诊断性检查；最终确诊为NEHI。
NEHI是一种罕见的chILD疾病，在生命的前2年出现，具有常见但具有挑战性的关键临床特征。儿科医生提高认识并及时识别临床表现可能有助于及时诊断，并改善疾病管理和预后。
