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An Atlas of Investigation and Management

PAedIAtrIc resPIrAtory dIseAse – Parenchymal diseasescomprehensive illustrated guide to the much neglected area 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: scleroderma, granulatomas and other rheumatoid disorders, mucopolsaccharidoses, sickle-cell disease, and rare neoplasms.

designed to aid the clinician with diagnosing a variety of often challenging disorders, this Atlas will be of interest to all paediatricians and respiratory specialists.

Related titles:

Asthma: Atlas of Investigation and Management sL Johnston IsBN 978 1 904392 18 7

Paediatric Respiratory Disease – Airways and Infection: Atlas of Investigation and ManagementA Bush, J davies IsBN 978 1 904392 97 2

Problem Solving in Respiratory Medicine and Allergyr Leach, c Kosky, e Hadley, B Lams IsBN 978 1 904392 86 6

Website: www.clinicalpublishing.co.uk

IsBN: 978 1 84692 086 8


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Paediatric Respiratory_NEW_TPS_cover.indd 1 30/08/2011 09:50


PAEDIATRIC RESPIRATORY

DISEASEPARENCHYMAL DISEASES

Edited byAndrew Bush, MB BS(Hons), MA, MD, FRCP, FRCPCH

Professor of Paediatric Respirology and Consultant Paediatric Chest PhysicianDepartment of Paediatric Respiratory Medicine

Imperial College and Royal Brompton and Harefi eld NHS Foundation TrustLondon, UK

Jane C. Davies, MB ChB, MRCP, MRCPCH, MD(Hons)Reader and Honorary Consultant

Department of Paediatric Respiratory MedicineRoyal Brompton and Harefi eld NHS Foundation Trust and Imperial College

London, UK

CLINICAL PUBLISHINGOXFORD

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Clinical Publishing an imprint of Atlas Medical Publishing LtdOxford Centre for InnovationMill Street, Oxford OX2 0JX, UK

Tel: +44 1865 811116Fax: +44 1865 251550E mail: [email protected]: www.clinicalpublishing.co.uk

Distributed in USA and Canada by:Clinical Publishing30 Amberwood ParkwayAshland OH 44805, USA

Tel: 800-247-6553 (toll free within US and Canada)Fax: 419-281-6883Email: [email protected]

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© 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 8ISBN 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, UKTypeset by Phoenix Photosetting, Chatham, Kent, UKPrinted and bound by Marston Book Services Ltd, Abingdon, Oxon, UK


Contents

Contributors vi

Abbreviations viii

1. Congenital lung malformations 1Chris Dewhurst, George K. Kokai, Gurdeep S. Mann, Nigel (Ben) Shaw

2. Neonatal lung disease 11Anne Greenough, Caroline May

3. Neuromuscular and chest wall disease (including non-invasive ventilation) 25Anita K. Simonds

4. Interstitial lung disease 37Andrew Bush, Andrew G. Nicholson

5. Primary and secondary thoracic tumours 51Catherine Wynne, N.J. Sebire, Kieran McHugh, Julia Chisholm

6. Rare lung diseases 69Samatha Sonnappa, Robert Dinwiddie

Index 79


vi

Contributors

Andrew Bush, MB BS(Hons), MA, MD, FRCP, FRCPCHProfessor of Paediatric Respirology and Consultant Paediatric Chest PhysicianDepartment of Paediatric Respiratory MedicineImperial College and Royal Brompton and Harefield NHS Foundation TrustLondon, UK

Julia Chisholm, BMBCh, PhD, FRCPCHDeputy HeadChildren and Young People’s UnitRoyal Marsden NHS Foundation TrustSutton, UK

Chris Dewhurst, MBChB, MRCPCH, PGCTLCPConsultant NeonatologistNeonatal Intensive Care UnitLiverpool Women’s HospitalLiverpool, UK

Robert Dinwiddie, MB, FRCP, FRCPCHHonorary Senior LecturerPortex Unit, Respiratory MedicineUCL Institute of Child Health and Great Ormond Street Hospital for Children NHS TrustLondon, UK

Anne Greenough, MDProfessor of Neonatology and Clinical Respiratory PhysiologyDivision of Asthma, Allergy and Lung BiologyMRC-Asthma UK Centre in Allergic Mechanisms of AsthmaKing’s CollegeLondon, UK

George K. Kokai, FRCPathConsultant Paediatric PathologistDepartment of Paediatric HistopathologyAlder Hey Children’s Hospital NHS Foundation TrustLiverpool, UK

Gurdeep S. Mann, MRCP, FRCRConsultant RadiologistDepartment of RadiologyAlder Hey Children’s Hospital NHS Foundation TrustLiverpool, UK

Caroline May, MB BS, BSc(Hons), MRCPCHSpecialist Registrar in Neonatal MedicineElizabeth Ward Neonatal Unit and Neonatal Transfer Service (NTS)The Royal London HospitalWhitechapelLondon, UK

Kieran McHugh, FRCR, FRCPI, DCHConsultant Paediatric RadiologistDepartment of RadiologyGreat Ormond Street Hospital for ChildrenLondon, UK

Andrew G. Nicholson, DM, FRCPathConsultant Histopathologist and Professor of Respiratory PathologyDepartment of HistopathologyRoyal Brompton and Harefield Hospitals NHS Foundation TrustNational Heart and Lung InstituteImperial CollegeLondon, UK

N. J. Sebire, MB BS, BClinSci, MD, DRCOG, FRCPathProfessor of Paediatric PathologyInstitute of Child Health and Great Ormond Street HospitalLondon, UK

Nigel (Ben) Shaw, MB ChB, MRCPCH (UK), MD, MA (Clin Ed), FRCPCHConsultant in Neonatal and Respiratory PaediatricsLiverpool Women’s Hospital and Royal Liverpool Children’s Hospital Alder HeyLiverpool, UK


Contributors vii

Anita K. Simonds, MD, FRCPConsultant in Respiratory MedicineNational Heart and Lung InstituteRoyal Brompton and Harefi eld NHS Foundation TrustLondon, UK

Samantha Sonnappa, MBBS, MD, DCH, MRCP, FRCPCH, PhDClinician Scientist and Honorary Consultant in Respiratory MedicineUCL Institute of Child Health and Great Ormond Street Hospital for Children NHS TrustLondon, UK

Catherine Wynne, BSc (Hons), MBChB, MRCPCHConsultant PaediatricianDepartment of PaediatricsRoyal Alexandra Children’s HospitalBrighton, UK


viii

ALL acute lymphoblastic leukaemia AML acute myeloid leukaemiaBAL bronchoalveolar lavageb-HCG beta-human chorionic gonadotropinBPD bronchopulmonary dysplasiaCCAM congenital cystic adenomatoid malformationchILD interstitial lung disease in all age childrenCT computed tomographyCXR chest radiographDMD Duchenne muscular dystrophyFEV1 forced expiratory volume in 1 secondFVC forced vital capacityGBS Group B streptococcus (or Streptococcus

agalactiae)GM-CSF granulocyte–macrophage colony-stimulat-

ing factorHRCT high-resolution computed tomographic scanILD interstitial lung diseaseLCH Langerhans cell histiocytosisLDH lactate dehydrogenaseLPD lymphoproliferative diseaseMD muscular dystrophyMIBG metaiodobenzylguanidine scan

MRI magnetic resonance imagingMYCN N-myc proto-oncogene protein NEHI neuroendocrine cell hyperplasia in infancyNHL Non-Hodgkin’s lymphomaNICU neonatal intensive care unitNIV non-invasive ventilationPAP pulmonary alveolar proteinosisPAS periodic acid-Schiff [stain]PIE pulmonary interstitial emphysemaPL pulmonary lymphangiectasiaPPB pleuropulmonary blastomapPNET peripheral primitive neuroectodermal tumourRDS respiratory distress syndromeREM rapid eye movementSFTP surfactant protein (SP- prefix also commonly

used)SMA spinal muscular atrophySVC superior vena cavaT-ALL T-cell acute lymphoblastic leukaemiaT-IPPV tracheostomy intermittent positive pressure

ventilationUIP usual interstitial pneumoniaVC vital capacity

Abbreviations


1

Introduction

Congenital lung malformations comprise a rare but important group of disorders that may present at any age, from the previable fetus through to adulthood. They can range in severity from asymptomatic to incompatible with life. This collection of disorders can present in similar ways and may have a similar aetiology. In recent years more advanced radiological imaging has led to an increase 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 prognosis depends on the presence of other associated congenital anomalies (cardiac (14%), gastrointestinal (14%), skeletal (12%), vascular (9%) and genitourinary (9%)), which are more common with right-sided defects.

Management is mainly symptomatic, although the rudimentary bronchus may act as a reservoir for infection and surgery is occasionally required.

Pulmonary hypoplasia (1.2) is more common, and is usually secondary to intrauterine factors affecting pulmonary development (Table 1.1). The degree of underdevelopment of the lung(s) determines presentation, which ranges from apparent health through to severe, life-threatening respiratory distress. The lungs are often

Congenital lung malformationsChris Dewhurst, George K. Kokai, Gurdeep S. Mann, Nigel (Ben) Shaw

Chapter 1

1.1 Antenatal ultrasound image of ‘bright lung’ (between callipers). This is a non-specifi c marker and may indicate the presence of any of the congenital lung abnormalities. Serial ultrasound scans may also show regression of the lesion with a normal healthy lung being present after birth. The arrow indicates the heart.

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Congenital lung malformations 2

‘stiff’ and difficult to ventilate. High ventilatory pressures, high frequency oscillatory ventilation or extracorporeal membrane oxygenation may be required. Air leaks, such as a pneumothorax (see Chapter 2) or pneumomediastinum are, therefore, relatively common in severe cases. The long-term prognosis is determined by the degree of hypoplasia and coexisting conditions.

Congenital diaphragmatic hernia

In congenital diaphragmatic hernia, the muscular diaphragm fails to develop normally allowing the abdominal components to herniate into the thorax

(1.3). The reduction in intrathoracic space results in underdevelopment of the fetal lung, which is often bilateral. Sixty per cent are detected antenatally and selected high-risk cases may be amenable to prenatal intervention, involving endotracheal obstruction to increase lung fluid volume. The amount of remaining ‘healthy’ lung tissue and presence of associated anomalies determines the prognosis, with mortality remaining high (up to 60%).

Postnatal management includes elective intubation and ventilation; nitric oxide, high frequency oscillatory ventilation and extracorporeal membrane oxygenation may be required, although trials have shown no benefit of the latter over conventional ventilation. Once stable, surgery is performed.

1.2 (A) Frontal chest X-ray showing pulmonary hypoplasia. The lung volumes are small; the thorax is bell-shaped with crowding of the gracile ribs. (B) Normal neonatal chest X-ray showing adequate lung volumes.

(A) (B)

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Cystic lung disease

A common feature of one group of abnormalities is cystic lesions within the lungs. They may be single, multiple or contain adenomatous tissue (congenital cystic adenomatoid malformation, CCAM). They present in one of four ways; antenatally, at birth, in childhood or as an incidental fi nding.

Antenatally on ultrasound1. Hyperechoic: solid lesions leading to ‘bright

lung’ (CCAM type III lesions – see Table 1.2 – or sequestration).

2. Cystic or mixed: type I/II CCAM, sequestration or a bronchogenic cyst (1.4).

3. Generalized hydrops caused by large lesions compressing the superior vena cava.

It is often diffi cult to give an accurate diagnosis. Multicystic lesions may resemble congenital diaphragmatic hernia. Fetal magnetic resonance imaging (MRI; 1.5) may provide additional anatomical information. There are reports of lung ‘cysts’ diagnosed in the antenatal period, which are not apparent after

birth. Some, however, can be seen after birth when high-resolution computed tomography (CT) scanning rather than chest radiography is used. Large lesions may be treated in utero by draining fl uid-fi lled cysts or pleural effusions. More advanced fetal surgery to remove the lesion has also been performed with some success on babies who had been predicted to have a fatal outcome. The management of antenatally detected lesions that do not cause respiratory diffi culties after birth remains controversial. Some clinicians advocate surgical removal (based on risk of infection and malignant transformation, although the incidence of the latter is unknown) while others advocate conservative management with follow-up and regular radiological review.

At birthLarge lesions can present at birth, which can put pressure on neighbouring structures. If compression of cardiovascular structures is signifi cant, it may cause hydrops, pleural effusions or ascites. If lung tissue has been compressed in utero, pulmonary hypoplasia may have developed. Such lesions require surgical removal, which may be preceded by thoracocentesis to drain cysts or selective intubation and ventilation of the unaffected lung.

Table 1.1 Aetiology of pulmonary hypoplasia

Reduced space available for fetal lung to develop

Congenital diaphragmatic herniaCCAMThoracic abnormalities (e.g. skeletal dysplasias, scoliosis)Pleural effusionsDiaphragmatic eventration

Reduced lung fl uid volume Renal agenesis (Potter’s syndrome)Urinary tract obstruction (posterior urethral valves)Oligohydramnios (prolonged rupture of membranes)

Reduced fetal breathing Neuromuscular diseases (e.g. myotonic dystrophy, spinal muscular atrophy)Central nervous system lesionsPhrenic nerve palsyMaternal depressant drugs

Cardiac lesions with reduced pulmonary blood fl ow

Tetralogy of FallotHypoplastic right heartPulmonary artery hypoplasia

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Infancy through to childhoodIn this instance, the child may present with persistent cough, wheeze or recurrent chest infections (often involving the same area of lung). A chest radiograph may show an air-filled cyst (1.6) with or without a solid element, although the final diagnosis is usually made by high-resolution CT scan (1.7); the use of contrast may allow feeding/draining vessels to be seen. Most lesions will be removed once the infection has resolved.

Incidental findingThe best management of these lesions is controversial but large lesions are often removed because of concern of life-threatening infections or malignancy occurring. Smaller lesions may be treated conservatively.

Congenital cystic adenomatoid malformations

The commonest form of congenital cystic lung lesions is CCAM (1.4–1.7), an adenomatous overgrowth of the terminal bronchiole that communicates abnormally with the tracheobronchial tree. CCAMs are divided into three main histological types (types I–III; see Table 1.2).

1.3 Left-sided Bochdalek congenital diaphragmatic hernia. (A) Radiographic appearance: multiple bowel loops are visible in the left hemithorax implying a degree of left pulmonary hypoplasia. Contralateral mediastinal shift is present which in this infant contributed to significant right lung hypoplasia. The nasogastric tube terminates in the thorax consistent with an intrathoracic stomach. (B) Prenatal imaging of the same infant: coronal fetal T2W MR image showing normal bright lung parenchyma (arrow), contralateral shift of the heart (h) and an intrathoracic stomach (arrowhead). (C) Coronal fetal T1W MR image showing herniated and stomach (arrow) and bright meconium-laden bowel (arrowheads).

(A)

(C)

(B)

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1.4 Antenatal ultrasound showing a mixed solid and cystic lung lesion (arrow). This appearance may indicate a type I/II CCAM, sequestration or a bronchogenic cyst.

1.5 Antenatal coronal T2W MR image of a hydropic fetus showing a large right-sided CCAM (arrow). Mass effect from the CCAM has impaired systemic venous return. Ascites (white arrowhead) and body wall oedema (black arrowhead) are present (image courtesy of Dr Ashley J. Robinson. FRCR FRCPC, Clinical Assistant Professor, University of British Columbia, Department of Radiology, BC Children’s Hospital, Canada)

1.6 Frontal chest X-ray showing a complex right lower zone hyperlucent area (arrows). On further imaging (1.7) this was confi rmed as being a CCAM. A right intercostal chest drain was placed for a right pneumothorax resulting in subcutaneous emphysema along the right lateral chest wall.

1.7 Coronal reformatted MDCT image (lung window) of the patient in 1.6 showing a multi-macrocystic CCAM (type III) in the right lower lobe.

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Bronchogenic cyst

Bronchogenic cysts occur when an abnormal bud sprouts from the developing bronchial tree and develops into a separate thin-walled structure filled with fluid, air or both. They may also contain cartilage, smooth muscle or even gastro-oesophageal mucosa. They usually occur around the carina (1.8) and present with respiratory distress or infection. Surgical resection is usually required.

Congenital lobar emphysema

This is the term used for the massive overdistension of one or more lobes of the lung (1.9), although ‘congenital

lobar overinflation’ is more accurate. Congenital lobar emphysema may occur following a ball-valve-type obstruction and is most common in the left upper lobe. The cause may be intrinsic (e.g. absent cartilage, bronchial mucosal folds), extrinsic (compression from a thoracic mass) or, most commonly, idiopathic. Presentation may be antenatal (‘bright lung’), at birth (approximately 30% with severe respiratory distress and mediastinal shift: it may be confused with tension pneumothorax) or as an asymptomatic, incidental finding. They are more common in males and in 20% of cases are associated with cardiac, renal or skeletal abnormalities. Management depends on clinical severity; surgical resection may be required, although there is no known risk of malignancy transformation,

Table 1.2 Classification of CCAM

Type I The commonest type of CCAM, which accounts for approximately two-thirds of the total number seen. Usually one cyst predominates, is >2 cm in size and is surrounded by smaller cysts. They may contain cartilage.

Type II One-quarter of all CCAMs are characterized by multiple, small cysts between 0.5 and 1 cm. These are lined with ciliated columnar epithelium, resemble bronchioles and are more frequently associated with other congenital anomalies such as cardiac, renal and chromosomal abnormalities.

Type III Multiple small (<5 mm) cysts characterize the type III lesions. These may be missed on antenatal ultrasound because the abnormal lung tissue may not be too dissimilar to normal lung tissue.

1.8 (A) Axial and (B) sagittal T2W MRI imaging of bronchogenic cyst (arrows) centred on the right lower lobe bronchus.

(A) (B)

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suggesting that intervention in asymptomatic individuals is unnecessary.

Pulmonary sequestration

This term describes the presence of pulmonary tissue, which is separate from, although may be connected to, the normal bronchial system (1.10) and receives an anomalous blood supply (1.11). It occurs when an accessory lung bud develops from the primitive foregut and takes with it its own blood supply from the systemic circulation, usually the developing aorta. Ninety per cent are intrapulmonary, most commonly in the left lower lobe. Most present antenatally as ‘bright lung’ but they may present later with neonatal respiratory distress, cough, haemoptysis or chest infections. Extrapulmonary sequestrations can have multiple arterial supplies and usually drain into the inferior vena cava or the portal vein. They do not communicate with normal lung tissue, are more likely to present neonatally and are associated with abnormalities in the cardiac/gastrointestinal systems. Management is mainly conservative, many of the lesions being asymptomatic and becoming smaller or disappearing during pregnancy or after birth. Surgery or embolization may be performed for larger lesions.

Pleural effusions

Neonatal pleural effusions (1.12) may be unilateral or bilateral and an isolated fi nding or associated with hydrops, pneumonia, congestive heart failure or Turner’s

1.9 (A) Frontal chest X-ray showing congenital lobar overinfl ation, a clinical entity formerly referred to as congenital lobar emphysema. The left upper lobe is hyperlucent, hyperexpanded with attenuation of the bronchovascular markings. (B) Follow-up axial CT thorax (lung window) showing geographic area of hyperaeration (arrowheads) with minimal contralateral mediastinal shift. Lobar overinfl ation can result in signifi cant air-trapping and mass effect.

1.10 Frontal chest-X-ray showing a small radio-opaque sequestration in the left lower zone (arrowheads).

(B)(A)

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syndrome. Chylothorax, an effusion containing chyle or lymphatic fluid, can be spontaneous or acquired following birth trauma or surgery. The associated condition of congenital lymphangiectasia is discussed in Chapter 6. The effusions are clinically significant in about half of all cases at birth and may require ventilation and/or pleural drainage. If the fluid reaccumulates, dietary manipulation with medium chain triglycerides may be used to reduce the production of chyle. Somatostatins have also been used in a few cases of chylothorax with some success.

Vascular rings

This is an anomalous configuration of the aortic arch and/or associated vessels forming a ring around the trachea or oesophagus. The commonest is a double aortic arch formed from both the right and left fourth branchial arches. A pulmonary sling is created when the left pulmonary artery originates anomalously from the posterior aspect of the right pulmonary artery compressing the lower trachea and right mainstem bronchus; it may lead to stridor, obstructive emphysema or atelectasis of either lung. Associated defects include cardiac abnormalities

(50%), imperforate anus, Hirschsprung disease, biliary atresia and genitourinary defects.

Chest X-ray may reveal a right-sided aortic ‘knuckle’ or narrow or deviated trachea, and associated atelectasis or pneumonia may be seen. A barium oesophagram will demonstrate the degree of compression of the oesophagus; further imaging with echocardiography and either MRI or contrast-enhanced CT is indicated. Symptomatic rings require surgical division. Tracheomalacia commonly remains, causing persistent stridor for weeks or months.

Tracheal abnormalities

These occur as a result of aberrant embryological formation of the septum separating the trachea from the oesophagus. The most severe types are agenesis or atresia of the trachea, which are almost always fatal. Tracheal stenosis results from complete tracheal rings (lacking the posterior membranous portion). It is rare and presents at birth or later in life with biphasic stridor or dyspnoea; management is either conservative or interventional (dilatation or reconstruction). Tracheal webs occur when a thin layer of tissue partially obstructs the lumen, causing symptoms dependent upon the size of the remaining air passage. Most webs can be ruptured during bronchoscopy examination, with some requiring laser therapy or surgical resection.

1.11 Axial contrast-enhanced CT image demonstrating the complex angio-architecture of an extralobar pulmonary sequestration (S) with abnormal arterial blood supply (arrow) directly from the descending thoracic aorta (Ao) and venous drainage (arrowhead) to the IVC.

1.12 Frontal chest X-ray of a hydropic infant showing large bilateral pleural effusions (lung edges marked by arrows) despite bilateral intercostal chest tube drainage. Note the marked generalised body-wall oedema. Ascites was present.

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Tracheomalacia results from a structural weakness in the tracheal wall, sometimes with a widening of the membranous portion and can be primary or secondary to external obstruction (see Vascular rings above). Supportive treatment may be required such as continuous positive airway pressure or, less commonly, tracheostomy. Growth of the trachea will often eliminate symptoms by the age of 2 years.

Pulmonary arteriovenous malformation

Pulmonary arteriovenous malformations (abnormal communications between pulmonary arteries and veins) are uncommon. Two-thirds of cases are associated with hereditary haemorrhagic telangiectasia. They may present in infancy with cyanosis, congestive heart failure or even fulminant respiratory failure but more commonly present later in life with dyspnoea or haemoptysis. Physical signs may include clubbing, cyanosis, bruit and platypnea (improvement in dyspnoea on reclining).

Classical radiological appearance is of a round mass of uniform density, frequently lobulated but sharply defi ned, more commonly in the lower lobes; they can be single (two-thirds) or multiple (one-third). Further investigations, including contrast (bubble) echocardiogram and/or cardiac catheterization, are usually required.

Management ranges from conservative observation, therapeutic embolization or surgical resection.

Chest wall deformities

These range from asymptomatic pectus excavatum or carinatum through to life-threatening asphyxiating thoracic dystrophy (Jeune’s syndrome). Jeune’s is an autosomal recessive syndrome where failure of chest wall growth in utero results in a narrow chest cavity and pulmonary hypoplasia (see Chapter 3). Many patients die at birth, although there are increasing reports of prolonged survival. There is currently no recognized treatment although there have been several attempts to increase thoracic cavity volume surgically.

Poland syndrome involves hypoplasia of the chest wall structures (pectoralis major and minor, serratus anterior, ribs and soft tissues) and is often associated

with deformities of the arm and hand. It is usually right-sided (75%) and may be associated with gastrointestinal, renal, cardiac or haematological problems. Surgery may be required depending on the defect present.

Other congenital lung anomalies

In Scimitar syndrome, an anomalous vein (the ‘scimitar’, 1.13) connects the pulmonary and systemic venous circulations, creating a left-to-right shunt. There is

1.13 Contrast-enhanced MDCT images of Scimitar syndrome. (A) Coronal maximal intensity projection image showing vertical descent of an anomalous right lower lobe pulmonary vein (arrow) draining the right lower lobe via the IVC. (B) Corresponding 3D volume-rendered image showing anomalous vertical veins (arrowheads) draining into the IVC (arrow).

(A)

(B)

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associated right lung hypoplasia with mediastinal shift and cardiac lesions (atrial septal defect, ventricular septal defect and aortic coarctation) occur in approximately 75% of cases. Presentation varies from an incidental finding to severe heart failure with pulmonary hypertension. Surgery, either division of the anomalous vessel or a right pneumonectomy, may be required.

Further reading

Barnes NA, Pilling DW. Bronchopulmonary foregut malformations: embryology, radiology and quandary. Eur Radiol 2003; 13: 2659–73.

Horak E, Bodner J, Ingmar Gassner I, et al. Congenital cystic lung disease: diagnostic and therapeutic considerations. Clini Pediatr 2003; 42: 251–61.

Shanmugam G. Adult congenital lung disease. Eur J Cardiothor Surg 2005; 28: 483–89.

Shanmugam G, MacArthur K, Pollock JC. Congenital lung malformations—antenatal and postnatal evaluation and management. Eur J Cardiothor Surg 2005; 27: 45–52.

Wallis C. Clinical outcomes of congenital lung abnormalities. Paediatr Respir Rev 2000; 1: 328–35.

Zach MS, Eber E. Adult outcomes of congenital lower respiratory tract malformations. Thorax 2001; 56: 65–72.

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