Imaging in pediatric lung diseases The roles of CT and pathology in diagnosing inherited and developmental lung diseases
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1 Imaging in pediatric lung diseases The roles of CT and pathology in diagnosing inherited and developmental lung diseases Dr Alistair D Calder Consultant Radiologist
2 We re not so different, you and I.
3 Invasiveness Cost Utility?
4 Diagnosis
5 Reasons for lung histological examination in children Resection of developmental lung malformation eg CPAM Diagnosis of unknown diffuse lung disease Resection of lung neoplasm Examination of explant Assessment of lung transplant Post mortem examination
6
7 Peribronchovascula r interstitum Bronchus Artery Vein and Lymphatic Interlobular septum Intralobular septa Pleura
8
9 Lung is mostly air, and difficult to image
10 Pneumonia with empyema Pulmonary haemorrhage: NB contrst
11
12
13 Organising pneumonia Chronic pneumonitis of infancy Neuroendocrine hyperplasia of infancynsip (sarcoid)
14 Mesenchym e/interstitiu m Bronchiole Pulmonary arteriole - Alveolus
15 - SMALL AIRWAYS DISEASE
16 -
17 -
18 -
19 - SMALL AIRWAYS DISEASE
20 Unaffected lung Small airways disease
21 Constrictive obliterative bronchiolitis
22 CT features may be entirely non-specific; localising disease to the interstitium or airspaces is not always possible. Sometimes localising the disease at all is challenging.
23 Toddler with persistent tachypnoea
24
25 Pleuroparenchymal pulmonary fibroelastosis
26 Which bit to biopsy?
27 CT can indicate the macroscopic distribution of disease; this can support or confirm diagnosis, or guide biopsy
28 Congenital lung malformations: traditional Bronchogenic Cyst CPAM Congenital segmental bronchial atresia Bronchopulmonary sequestration Congenital lobar overinflation
29 What we actually see CPAM/BA with systemic supply CPAM with overinflation CPAM with bronchial atresia
30 Malinosculation Venous Scimitar PV atresia Rarities Scimitar ELS CPAM BA CLO B Cyst ILS CCAM with systemic supply Absent PA Systemic supply without sequestration Arterial Airway
31 Airway malinosculation Timing Early Late Intermediate? Degree Complete Complete Complete Partial/valve Effect Proliferation of bronchial elements at expense of alveoli Normally formed, non functioning lung Mixed Example CPAM CBA CPAM/BA hybrid CLO Overinflation of normal lung
32 Arterial malinosculation With lung malformation With lung hypoplasia Intralobar sequestration Absent LPA with hypoplasia
33 Venous malinosculation With lung malformation With lung hypoplasia Extralobar sequestration Scimitar syndrome
34 CT better depicts the anatomical context of a lung abnormality; examples include the connectivity of a congenital lung malformation, the presence of thoracic deformity underlying a lung growth abnormality etc
35 Histopathology CT Specific microscopic architecture Distribution and anatomical context Clinical context Diagnosis
36 MULTIDISCIPLINARY TEAM MULTIDISCIPLINARY TEAM
37 3 month old girl Progressive respiratory distress since birth, becoming ventilator dependent Clinico-radiological diagnosis: likely surfactant metabolism disorder. Genetic testing reveals homozygous missense mutation in FOXF1 Diagnosis: Alveolar capillary dysplasia with misalignment of the pulmonary veins.
38 Diagnosis
39 Diagnosis
40 Gene Disorder Inheritance First described as a genetic disorder SFTPB Surfactant Protein B Deficiency AR 1994 NKX2-1 Brain-Lung-Thyoid syndrome AD 1998 SFTPC Surfactant Protein C Deficiency AD 2001 ABCA3 ABCA3 deficiency AR 2004 CSF2RA Familial Alveolar Proteinosis X-linked recessive 2008 FOXF1 Alveolar Capillary Dysplasia with Misaligment of Pulmonary Veins AD (new mutations) 2009 FLNA Polylobar alveolar overinflation X-linked Dominant 2011 CSF2RB Familial Alveolar Proteinosis AR 2011 TMEM173 STING-associated vasculopathy AD (new mutations) 2014 COPA Autoimmune lung, joint and kidney disease AD 2015 A growing list.
41
42 Lamella bodies Surfacta nt Proteins Type 2 Pneumocyte (AEC2) Fluid/surfacta nt layer AEC1 Alveolar macrophage
43 NKX2-1 ABCA3 SpB SpC CSFR2A CSFR2B
44
45 A typical result from NGS
46 Powerful genotyping does NOT obviate the need for accurate phenotyping
47 Summary Radiological and histopathological assessments are complementary tools Lung is difficult to image; when present, imaging abnormalities of the lungs are frequently non-specific. The strength of CT is in describing the distribution of disease and the anatomical context; in many cases this is sufficient for diagnosis. A team approach is essential to diagnosis of rare diffuse lung disease in children. Many rare diffuse lung disorders of childhood will turn out to be genetic. Extensive genetic data will become routinely available in all patients; but powerful genotyping does NOT obviate the need for accurate phenotyping
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