500 Arch Dis Child: first published as 10.1136/adc.87.6.500 on 1 December 2002. Downloaded from PAEDIATRIC ORIGINS OF ADULT LUNG DISEASES Series editors: P Sly, S Stick Adult outcome of congenital lower respiratory tract malformations M S Zach, E Eber ............................................................................................................................. Arch Dis Child 2002;87:500–505 ongenital malformations of the lower respiratory tract relevant studies have shown absence of the normal peristaltic are usually diagnosed and managed in the newborn wave, atonia, and pooling of oesophageal contents.89 Cperiod, in infancy, or in childhood. To what extent The clinical course in the first years after repair of TOF is should the adult pulmonologist be experienced in this often characterised by a high incidence of chronic respiratory predominantly paediatric field? symptoms.910 The most typical of these is a brassy, seal-like There are three ways in which an adult physician may be cough that stems from the residual tracheomalacia. While this confronted with this spectrum of disorders. The most frequent “TOF cough” is both impressive and harmless per se, recurrent type of encounter will be a former paediatric patient, now bronchitis and pneumonitis are also frequently observed.711In reaching adulthood, with the history of a surgically treated rare cases, however, tracheomalacia can be severe enough to respiratory malformation; in some of these patients the early cause life threatening apnoeic spells.712 These respiratory loss of lung tissue raises questions of residual damage and symptoms tend to decrease in both frequency and severity compensatory growth. Secondly, there is an increasing with age, and most patients have few or no respiratory number of children in whom paediatric pulmonologists treat complaints by the time they reach adulthood.13 14 respiratory malformations expectantly; these patients eventu- The entire spectrum of residual respiratory morbidity after ally become adults with their malformation still in place. repair of TOF is not sufficiently explained by tracheomalacia Thirdly, there is a small group of patients in whom the malfor- alone. In many patients the remaining abnormalities of mation goes unrecognised throughout childhood; in these a oesophageal motility cause dysphagia, oesophagitis, and late complication or the coincidental discovery of a radio- gastro-oesophageal reflux, and these problems tend to persist graphic anomaly may demand a late diagnosis and manage- well into adulthood.371314 There seems to be a correlation ment in adulthood. between the frequency of bronchitis and pneumonia, on the All three of these adult presentations will require some one hand, and the severity of dysphagia on the other.13 expertise on the part of the managing physician. The Furthermore, lung function testing in TOF survivors tends to subsequent text reviews the most common “classical” reveal a mildly restrictive respiratory impairment indicating congenital malformations of the lower respiratory tract from additional pathology in the lower respiratory tract.13 14 All this the above three perspectives. suggests that some patients tend to aspirate recurrently after http://adc.bmj.com/ the repair of TOF, and this extends the scope of respiratory 91015 TRACHEO-OESOPHAGEAL FISTULA (TOF) pathology beyond the malformed trachea. Residual Paediatric presentation oesophageal dysfunction offers itself as the most likely cause TOF usually occurs in association with oesophageal atresia; for such recurrent aspiration. Scoliosis, which occasionally occurs in patients who have had a TOF repair, is a non-specific thus, the outcome is invariably fatal unless the anomaly is 16 surgically repaired in the first days of life. The rare “H type” long term consequence of thoracotomy. TOF without oesophageal atresia is an exception to this rule Late presentation on September 23, 2021 by guest. Protected copyright. and may persist into later childhood or even adulthood before 1 TOF without oesophageal atresia is compatible with life and the diagnosis is established. The malformation is explained may go unnoticed for years or even decades. Patients may suf- by the defective progression of a complex system of folds that 2 fer from bouts of coughing after drinking, haemoptysis, retro- separate the foregut into trachea and oesophagus. Approxi- sternal pain and recurrent pneumonitis.1 mately 50% of infants with TOF have associated anomalies, most often involving the urinary, gastrointestinal, and cardiac CYSTIC MALFORMATIONS 34 systems. Paediatric presentation The first successful repair of oesophageal atresia with TOF A spectrum of different, more or less clearly defined, congeni- 5 was reported in 1943 ; since then the surgical and peri- tal malformations can be listed under this heading. They all operative management has improved progressively, achieving have cysts that often (but not necessarily) form a prominent a 100% survival in infants without severe associated part of the lesion. Surgical resection of the malformation is the 3 anomalies. most frequently used therapeutic option. Long term outcome Lung cysts To understand any long term respiratory morbidity after the Also termed “congenital parenchymal cysts”, these lesions are successful repair of TOF and oesophageal atresia, one must a localised malformation of the terminal bronchopulmonary realise that the tracheal structure is more or less abnormal in airway. Depending on their origin, their wall may contain most patients, showing disruption of cartilage rings and a bronchial elements such as cartilage, glands, and smooth concomitant increase in the membranous portion.6 This muscle, or they may be of a more bullous alveolar type.17 results in tracheomalacia of varying severity which persists far beyond the surgical closure of the TOF and occurs in the ............................................................. majority of patients.7 In addition, oesophageal function tends to remain disturbed after the repair of oesophageal atresia; Reproduced in full with permission from Thorax 2001;56:65–72 www.archdischild.com Adult outcome of congenital lower respiratory tract malformations 501 Arch Dis Child: first published as 10.1136/adc.87.6.500 on 1 December 2002. Downloaded from Lung cysts may occur as a single or a multicystic lesion, can lesions tend to develop these infective complications at school contain fluid, air, or both, and may or may not communicate age and adolescence; however, symptoms may also occur in with the bronchial tree.18 The most frequently occurring com- infants and preschool children, as well as in previously plication is infection that may enter via rudimentary commu- asymptomatic adults.27 29 32 In addition, it may be discovered nications from the airways or via collateral channels, and may coincidentally on a chest radiograph taken for another lead to protracted pneumonitis and abscess formation. In reason.19 addition, enlarging cysts may cause compression of the All symptomatic cases of pulmonary sequestration require surrounding tissue resulting in atelectasis and/or recurrent surgery which is usually curative.24 25 29 To avoid vascular com- pneumonia. Rupture of a cyst may lead to pneumothorax.19 plications, accurate preoperative assessment by ultrasonogra- Large lesions may cause symptoms postnatally or in infancy phy, CT scanning with contrast, and/or conventional angio- but others may remain asymptomatic for years or decades and graphy are essential. Some authors have advocated are only diagnosed by chance or when causing late complica- embolisation of the aberrant systemic artery at the time of tions. Diagnostic examination relies on CT scanning; aortogra- catheterisation which, in a few cases, may result in complete phy can be used to rule out an aberrant systemic arterial sup- resolution of symptoms and chest radiographic changes.19 It ply to the lesion, thus distinguishing lung cysts from cystic thus allows the option of expectant management for a while variants of the sequestration spectrum. Surgical resection is and, if surgical resection is subsequently considered necessary, usually recommended, especially if the cysts have already the risk of vascular complications is reduced.33 34 caused some complications.19 Some paediatric pulmonologists will advocate non-surgical management for smaller asympto- Congenital lobar emphysema (CLE) matic lesions diagnosed by chance. CLE is a massive postnatal overinflation of one or more lobes of the lung.19 35 36 Approximately half the cases of CLE involve Cystic adenomatoid malformation (CAM) the left upper lobe and the lesion is less frequently located in CAM is a rare malformation of the non-cartilage-containing the right upper or middle lobe.36 Congenital heart disease is a terminal respiratory structures.19 It consists of cysts and solid common accompaniment of CLE.35 37 The development of CLE airless tissue that, on histological examination, shows is still poorly understood. Strictly speaking, the term “emphy- predominantly bronchiolar elements.20 In the macrocystic type sema” should be based on clearly defined morphological char- one or more large cysts predominate, the more frequently acteristics that are not present in CLE. This has motivated occurring microcystic type consists mostly of small cysts, while some authors to suggest the alternative term “congenital lobar the solid type is a CAM in which a solid airless tissue mass pre- overinflation”25 but this more accurate nomenclature has vails. The