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Pediatric Diffuse Lung Disease in Infants: Imaging Findings and Histopathologic Correlation
Karen I Ramirez-Suarez1, Santiago Martinez-Correa1, Luis O Tierradentro-Garcia1
1From the Department of Radiology (K.I.R.S., S.M.C., L.O.T.G., A.M.W., M.M.P., H.J.O., D.M.B., L.R.Y., J.B.R.) and Division of Anatomic Pathology (J.P.), Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa (L.O.T.G., A.M.W., H.J.O., D.M.B., L.R.Y., J.P., J.B.R.); Department of Radiology, University of Alabama at Birmingham, Birmingham, Ala (M.M.P.); American College of Radiology Institute of Radiologic Pathology, Silver Spring, Md (D.M.B., J.P.L.); and George Washington University Hospital, Washington, DC (J.P.L.).
Insights
Childhood interstitial lung disease (chILD) is a rare, complex group of over 200 conditions in children. This article outlines a diagnostic approach to improve chILD identification and patient care.
Area of Science:
- Pediatric Pulmonology
- Rare Diseases
- Medical Diagnostics
Background:
- Childhood interstitial lung disease (chILD) comprises over 200 rare, heterogeneous conditions in infants and children.
- Combined prevalence is less than 1 in 100,000 children, necessitating a systematic diagnostic strategy.
- Accurate classification is vital due to overlapping clinical, imaging, and histologic features.
Purpose of the Study:
- To describe a systematic diagnostic approach for pediatric diffuse lung diseases in infancy.
- To enhance the understanding and diagnosis of various chILD entities.
- To guide clinicians toward appropriate genetic testing and potentially reduce unnecessary biopsies.
Main Methods:
- Analysis of clinical presentations.
- Evaluation of imaging features, including computed tomography (CT) findings.
- Review of histologic characteristics.
- Integration of clinical, imaging, and histologic data for differential diagnosis.
Main Results:
- Some chILD entities present with characteristic imaging findings that can aid in diagnosis.
- CT findings can help narrow the differential diagnosis for pediatric diffuse lung diseases.
- A systematic approach can identify specific chILD entities and guide further investigations.
Conclusions:
- A structured diagnostic pathway is essential for managing rare and heterogeneous chILD.
- Utilizing clinical, imaging, and histologic data improves diagnostic accuracy.
- This approach facilitates targeted genetic testing and optimizes patient care for chILD.
Abstract:
Childhood interstitial lung disease (chILD) encompasses a diverse group of genetic, infectious, and inflammatory conditions affecting infants and children. The recognition and understanding of these entities have highlighted the necessity for more accurate classification. This group of rare heterogeneous diseases comprises more than 200 different conditions and has a combined estimated prevalence of less than one patient per 100 000 children. Hence, a systematic diagnostic approach is crucial. This article describes a diagnostic approach for pediatric diffuse lung diseases in infancy, including an analysis of clinical presentations and imaging and histologic features to effectively distinguish among various chILD entities. Although they often have overlapping and nonspecific radiologic features, some chILD entities may exhibit typical imaging findings, resulting in a CT diagnosis or aiding in narrowing the differential diagnosis, thus guiding the clinician to the appropriate genetic tests, potentially limiting unnecessary biopsies. This approach aims to enhance the understanding and diagnosis of chILD in infants, thereby facilitating improved patient care.
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