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French national cohort of neuroendocrine cell hyperplasia of infancy (FRENCHI) study: diagnosis and initial management

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Abstract

Early diagnosis of neuroendocrine cell hyperplasia of infancy (NEHI) is crucial as, conversely to the other causes of intersititial lung disease, corticosteroids are not recommended. Diagnosis is historically based on lung biopsy (NEHI), but in current practice, a clinical and radiological approach is more and more preferred (NEHI syndrome). This national study aimed to address diagnosis and initial management of patients followed up for a NEHI pattern in pediatric centers for rare lung diseases (RespiRare, France). Data on neonatal and familial events, symptoms at diagnosis, explorations performed and results, and therapeutic management were collected by questionnaire. Fifty-four children were included (boys 63%). The mean onset of symptoms was 3.8 ± 2.6 months. The most frequent symptoms at diagnosis were tachypnea (100%), retraction (79.6%), crackles (66.7%), and hypoxemia (59.3%). The mean NEHI clinical score, evocative when ≥ 7/10, was 7.9 ± 1.4 (76% with a score ≥ 7). All chest CT-scans showed ground glass opacities evolving at least the middle lobe and the lingula. Lung biopsy was performed in 38.9% of the cases and was typical of NEHI in only 52.4%, even when the clinical presentation was typical. Initial treatments were oxygen (83.6%) and more curiously intravenous pulses of steroids (83.3%) and azithromycin (70.2%).

Conclusion: This national cohort of patients underlines diagnosis difficulties of NEHI. A composite clinical and radiological score should help clinicians for limiting the use of anti-inflammatory drugs.

What is Known:

•Neuroendocrine cell hyperplasia of infancy (NEHI) is an interstitial lung disease whose diagnosis is essential to limit corticosteroids therapy.

What is New:

•In this national cohort of 54 patients with a NEHI pattern, diagnosis is mainly based on clinical symptoms and chest CT-scan results. The newly proposed clinical score and, when performed, the lung biopsies are faulted in 25 and 50% of the cases, respectively.

•Corticosteroids are widely used. Such results plead for a new composite score to formally diagnose NEHI.

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Availability of data and materials

Data were anonymized but are available in an Excel file.

Code availability

Excel file was protected with a password.

Abbreviations

BMI:

Body mass index

chILD:

Childhood interstitial lung disease

NEHI:

Neuroendocrine cell hyperplasia of infancy

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Authors and Affiliations

Authors

Contributions

All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by C Fabre, C Thumerelle, M Dervaux, N Nathan, and JC Dubus. The first draft of the manuscript was written by C Fabre, C Thumerelle, M Dervaux, J Mazenq, N Nathan, and JC Dubus and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Jean-Christophe Dubus.

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This is an observational study. The Comité d’éthique de la recherche de la Société Française de Pédiatrie (CER_SFP_2020_123) and the Commission Nationale de l’Informatique et des Libertés (CNIL 2219327) gave their consents.

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Not applicable.

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Not applicable.

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The authors declare no competing interests.

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Communicated by Peter de Winter

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Fabre, C., Thumerelle, C., Dervaux, M. et al. French national cohort of neuroendocrine cell hyperplasia of infancy (FRENCHI) study: diagnosis and initial management. Eur J Pediatr 181, 3067–3073 (2022). https://doi.org/10.1007/s00431-022-04510-y

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