Interstitial lung disease in infants: new classification system, imaging technique, clinical presentation and imaging findings

Abstract

Interstitial lung disease (ILD) is defined as a rare, heterogeneous group of parenchymal lung conditions that develop primarily because of underlying developmental or genetic disorders. Affected infants typically present with clinical syndromes characterized by dyspnea, tachypnea, crackles and hypoxemia. Until recently, the understanding of ILD in infants has been limited largely owing to a lack of evidence-based information of underlying pathogenesis, natural history, imaging findings and histopathological features. However, ILD in infants is now better understood and managed because of (1) advances in imaging methods that result in rapid and accurate detection, (2) improved thoracoscopic techniques for lung biopsy, (3) a consensus regarding the pathological criteria for these particular lung conditions and (4) a new classification system based on the underlying etiology of ILD. This article reviews the new classification system, imaging technique, clinical presentation and imaging findings of ILD in infants. Specialized knowledge of this new classification system in conjunction with recognition of characteristic imaging findings of ILD in infants has great potential for early and accurate diagnosis, which in turn can lead to optimal patient management.

Filamin A (FLNA) mutation—A newcomer to the childhood interstitial lung disease (ChILD) classification

“…We present the clinical radiological, cardiac, and histological features of FLNA gene mutation ChILd. This diagnosis should be considered for atypical diffuse lung disease with the hallmark feature of marked hyperinflation, predominantly in the upper lobe distribution with accompanying pulmonary arterial hypertension in the majority of cases. There may be a potential association with periventricular nodular heterotopia (PNH) .…”

Diffuse Lung Disease

“…The imaging technique and diagnostic efficacy of imaging for pediatric DLD have been addressed in previous review articles (Guillerman 2010;Guillerman and Brody 2011;Lee 2013). For some types of pediatric DLD, the imaging findings are highly specific, while for others the imaging findings are nonspecific and laboratory tests or lung biopsy are needed for definitive diagnosis (Kurland et al 2013).…”

High-Resolution CT of the Lung in Children: Clinical Applications

“…In 2007, a new classification for infants was proposed by a study group formed by clinicians and pathologists (Deutsch et al 2007). This classification is divided into four main groups: diffuse developmental disorders, growth abnormalities, surfactant dysfunction disorders, and related abnormalities or specific conditions of unknown or poorly understood etiology (Lee 2013). The understanding of the pathogenesis and diagnosis is due to advances in genetics.…”