An Atlas of Investigation and Management A B u PAedIAtrIc resPIrAtory s An Atlas of Investigation and Management h • PAedIAtrIc resPIrAtory J dIseAse d dIseAse – Parenchymal diseases a v i comprehensive illustrated guide to the much neglected area e Parenchymal diseases s of parenchymal respiratory disease in children. It includes congenital disorders, disease in neonates, malignant disease, as well as neuromuscular and interstitial diseases. there is also a section on rarer disorders that are commonly misdiagnosed: A Bush • J davies scleroderma, granulatomas and other rheumatoid disorders, mucopolsaccharidoses, sickle-cell disease, and rare neoplasms. P designed to aid the clinician with diagnosing a variety of A often challenging disorders, this Atlas will be of interest to all e d paediatricians and respiratory specialists. I A Related titles: tr I c Asthma: Atlas of Investigation and Management r sL Johnston e s IsBN 978 1 904392 18 7 P I r Paediatric Respiratory Disease – Airways and Infection: Atlas of A t Investigation and Management o r A Bush, J davies y IsBN 978 1 904392 97 2 d I s e Problem Solving in Respiratory Medicine and Allergy A r Leach, c Kosky, e Hadley, B Lams s e IsBN 978 1 904392 86 6 Website: www.clinicalpublishing.co.uk IsBN: 978 1 84692 086 8 – P a r e n c h y m a l d i s e a s e s P clinical publishing uc BL LI N I sI Hc A I NL g Paediatric Respiratory_NEW_TPS_cover.indd 1 30/08/2011 09:50 An Atlas of Investigation and Management PAEDIATRIC RESPIRATORY DISEASE PARENCHYMAL DISEASES Edited by Andrew Bush, MB BS(Hons), MA, MD, FRCP, FRCPCH Professor of Paediatric Respirology and Consultant Paediatric Chest Physician Department of Paediatric Respiratory Medicine Imperial College and Royal Brompton and Harefi eld NHS Foundation Trust London, UK Jane C. Davies, MB ChB, MRCP, MRCPCH, MD(Hons) Reader and Honorary Consultant Department of Paediatric Respiratory Medicine Royal Brompton and Harefi eld NHS Foundation Trust and Imperial College London, UK CLINICAL PUBLISHING OXFORD A01_PAED_0868_PRELIMS-cpp.indd 3 25/08/2011 16:19 Clinical Publishing an imprint of Atlas Medical Publishing Ltd Oxford Centre for Innovation Mill Street, Oxford OX2 0JX, UK Tel: +44 1865 811116 Fax: +44 1865 251550 E mail: [email protected] Web: www.clinicalpublishing.co.uk Distributed in USA and Canada by: Clinical Publishing 30 Amberwood Parkway Ashland OH 44805, USA Tel: 800-247-6553 (toll free within US and Canada) Fax: 419-281-6883 Email: [email protected] Distributed in UK and Rest of World by: Marston Book Services Ltd PO Box 269 Abingdon Oxon OX14 4YN, UK Tel: +44 1235 465500 Fax: +44 1235 465555 Email: [email protected] © Atlas Medical Publishing Ltd 2011 First published 2011 All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, without the prior permission in writing of Clinical Publishing or Atlas Medical Publishing Ltd Although every effort has been made to ensure that all owners of copyright material have been acknowledged in this publication, we would be glad to acknowledge in subsequent reprints or editions any omissions brought to our attention Clinical Publishing and Atlas Medical Publishing Ltd bear no responsibility for the persistence or accuracy of URLs for external or third-party internet websites referred to in this publication, and does not guarantee that any content on such websites is, or will remain, accurate or appropriate. A catalogue record for this book is available from the British Library ISBN-13 978 1 84692 086 8 ISBN e-book 978 1 84692 628 0 The publisher makes no representation, express or implied, that the dosages in this book are correct. Readers must therefore always check the product information and clinical procedures with the most up-to-date published product information and data sheets provided by the manufacturers and the most recent codes of conduct and safety regulations. The authors and the publisher do not accept any liability for any errors in the text or for the misuse or misapplication of material in this work Project manager: Gavin Smith, GPS Publishing Solutions, Herts, UK Typeset by Phoenix Photosetting, Chatham, Kent, UK Printed and bound by Marston Book Services Ltd, Abingdon, Oxon, UK A01_PAED_0868_PRELIMS-cpp.indd 4 25/08/2011 16:19 Contents Contributors vi Abbreviations viii 1. Congenital lung malformations 1 Chris Dewhurst, George K. Kokai, Gurdeep S. Mann, Nigel (Ben) Shaw 2. Neonatal lung disease 11 Anne Greenough, Caroline May 3. Neuromuscular and chest wall disease (including non-invasive ventilation) 25 Anita K. Simonds 4. Interstitial lung disease 37 Andrew Bush, Andrew G. Nicholson 5. Primary and secondary thoracic tumours 51 Catherine Wynne, N.J. Sebire, Kieran McHugh, Julia Chisholm 6. Rare lung diseases 69 Samatha Sonnappa, Robert Dinwiddie Index 79 A01_PAED_0868_PRELIMS-cpp.indd 5 25/08/2011 16:19 vi Contributors Andrew Bush, MB BS(Hons), MA, MD, FRCP, FRCPCH Gurdeep S. Mann, MRCP, FRCR Professor of Paediatric Respirology and Consultant Consultant Radiologist Paediatric Chest Physician Department of Radiology Department of Paediatric Respiratory Medicine Alder Hey Children’s Hospital NHS Foundation Trust Imperial College and Royal Brompton and Harefield Liverpool, UK NHS Foundation Trust London, UK Caroline May, MB BS, BSc(Hons), MRCPCH Specialist Registrar in Neonatal Medicine Julia Chisholm, BMBCh, PhD, FRCPCH Elizabeth Ward Neonatal Unit and Neonatal Transfer Deputy Head Service (NTS) Children and Young People’s Unit The Royal London Hospital Royal Marsden NHS Foundation Trust Whitechapel Sutton, UK London, UK Chris Dewhurst, MBChB, MRCPCH, PGCTLCP Kieran McHugh, FRCR, FRCPI, DCH Consultant Neonatologist Consultant Paediatric Radiologist Neonatal Intensive Care Unit Department of Radiology Liverpool Women’s Hospital Great Ormond Street Hospital for Children Liverpool, UK London, UK Robert Dinwiddie, MB, FRCP, FRCPCH Andrew G. Nicholson, DM, FRCPath Honorary Senior Lecturer Consultant Histopathologist and Professor of Portex Unit, Respiratory Medicine Respiratory Pathology UCL Institute of Child Health and Great Ormond Department of Histopathology Street Hospital for Children NHS Trust Royal Brompton and Harefield Hospitals NHS London, UK Foundation Trust National Heart and Lung Institute Anne Greenough, MD Imperial College Professor of Neonatology and Clinical Respiratory London, UK Physiology Division of Asthma, Allergy and Lung Biology N. J. Sebire, MB BS, BClinSci, MD, DRCOG, FRCPath MRC-Asthma UK Centre in Allergic Mechanisms of Professor of Paediatric Pathology Asthma Institute of Child Health and Great Ormond Street Hospital King’s College London, UK London, UK Nigel (Ben) Shaw, MB ChB, MRCPCH (UK), MD, George K. Kokai, FRCPath MA (Clin Ed), FRCPCH Consultant Paediatric Pathologist Consultant in Neonatal and Respiratory Paediatrics Department of Paediatric Histopathology Liverpool Women’s Hospital and Royal Liverpool Alder Hey Children’s Hospital NHS Foundation Trust Children’s Hospital Alder Hey Liverpool, UK Liverpool, UK A01_PAED_0868_PRELIMS-cpp.indd 6 25/08/2011 16:19 Contributors vii Anita K. Simonds, MD, FRCP Catherine Wynne, BSc (Hons), MBChB, MRCPCH Consultant in Respiratory Medicine Consultant Paediatrician National Heart and Lung Institute Department of Paediatrics Royal Brompton and Harefi eld NHS Foundation Trust Royal Alexandra Children’s Hospital London, UK Brighton, UK Samantha Sonnappa, MBBS, MD, DCH, MRCP, FRCPCH, PhD Clinician Scientist and Honorary Consultant in Respiratory Medicine UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust London, UK A01_PAED_0868_PRELIMS-cpp.indd 7 25/08/2011 16:19 viii Abbreviations ALL acute lymphoblastic leukaemia MRI magnetic resonance imaging AML acute myeloid leukaemia MYCN N-myc proto-oncogene protein BAL bronchoalveolar lavage NEHI neuroendocrine cell hyperplasia in infancy b-HCG beta-human chorionic gonadotropin NHL Non-Hodgkin’s lymphoma BPD bronchopulmonary dysplasia NICU neonatal intensive care unit CCAM congenital cystic adenomatoid malformation NIV non-invasive ventilation chILD interstitial lung disease in all age children PAP pulmonary alveolar proteinosis CT computed tomography PAS periodic acid-Schiff [stain] CXR chest radiograph PIE pulmonary interstitial emphysema DMD Duchenne muscular dystrophy PL pulmonary lymphangiectasia FEV1 forced expiratory volume in 1 second PPB pleuropulmonary blastoma FVC forced vital capacity pPNET peripheral primitive neuroectodermal tumour GBS Group B streptococcus (or Streptococcus RDS respiratory distress syndrome agalactiae) REM rapid eye movement GM-CSF granulocyte–macrophage colony-stimulat- SFTP surfactant protein (SP- prefix also commonly ing factor used) HRCT high-resolution computed tomographic scan SMA spinal muscular atrophy ILD interstitial lung disease SVC superior vena cava LCH Langerhans cell histiocytosis T-ALL T-cell acute lymphoblastic leukaemia LDH lactate dehydrogenase T-IPPV tracheostomy intermittent positive pressure LPD lymphoproliferative disease ventilation MD muscular dystrophy UIP usual interstitial pneumonia MIBG metaiodobenzylguanidine scan VC vital capacity A01_PAED_0868_PRELIMS-cpp.indd 8 25/08/2011 16:19 Chapter 1 1 Congenital lung malformations Chris Dewhurst, George K. Kokai, Gurdeep S. Mann, Nigel (Ben) Shaw Introduction Management is mainly symptomatic, although the rudimentary bronchus may act as a reservoir for infection Congenital lung malformations comprise a rare but and surgery is occasionally required. important group of disorders that may present at any age, Pulmonary hypoplasia (1.2) is more common, and from the previable fetus through to adulthood. They can is usually secondary to intrauterine factors affecting range in severity from asymptomatic to incompatible with pulmonary development (Table 1.1). The degree of life. This collection of disorders can present in similar underdevelopment of the lung(s) determines presentation, ways and may have a similar aetiology. In recent years which ranges from apparent health through to severe, more advanced radiological imaging has led to an increase life-threatening respiratory distress. The lungs are often in the number of lesions detected both antenatally and postnatally in asymptomatic individuals. The clinical dilemma is how best to manage this latter group. Pulmonary agenesis, aplasia and hypoplasia Pulmonary agenesis and aplasia are rare; they occur when the pulmonary bud fails to develop beyond the carina. This leads to complete absence of lung parenchyma, which in 30% of cases is bilateral and incompatible with life. If unilateral, the unaffected lung is usually normal but overinfl ates to fi ll the contralateral empty hemithorax. Antenatal ultrasound reveals increased echogenicity (‘bright lung’) on the side of the abnormal pulmonary tissue (1.1). Children may present with respiratory distress shortly after birth or in later childhood with recurrent chest infections, wheeze or breathlessness; some remain asymptomatic and are diagnosed incidentally. The 1.1 Antenatal ultrasound image of ‘bright lung’ (between prognosis depends on the presence of other associated callipers). This is a non-specifi c marker and may indicate the presence of any of the congenital lung abnormalities. Serial congenital anomalies (cardiac (14%), gastrointestinal ultrasound scans may also show regression of the lesion (14%), skeletal (12%), vascular (9%) and genitourinary with a normal healthy lung being present after birth. The (9%)), which are more common with right-sided defects. arrow indicates the heart. M01_PAED_0868_CH01-cpp.indd 1 25/08/2011 16:19