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Congenital lobar emphysema in adult: A rare case report
Respiratory Medicine CME 3 (2010) 150–152
Contents lists available at ScienceDirect
Respiratory Medicine CME journal homepage: www.elsevier.com/locate/rmedc
Case Report
Congenital lobar emphysema in adult: A rare case report M. Khalid*, S. Saleemi, B. Khan Section of Pulmonary Medicine, Department of Medicine MBC 46 King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia
a r t i c l e i n f o
a b s t r a c t
Article history: Received 27 July 2009 Accepted 4 September 2009
Congenital lobar emphysema (CLE) is a very rare disease characterized by over-distension of the affected lobe leading to compression and displacement of adjacent normal lung tissue and mediastinum. We present a case of 18 years old male who presented with symptoms of acute bronchitis and routine chest X-ray led to the suspicion of CLE which was confirmed by advance imaging techniques. We reviewed the literature to discuss this very rare illness which almost always present in early years of life and only a handful cases are reported in adults. Ó 2009 Elsevier Ltd. All rights reserved.
Keywords: Congenital Emphysema Mediastinum
1. Case report An 18 years old, non-smoker, male student with no previous health problems presented with symptoms of fever, cough and sputum production. A preliminary diagnosis of upper respiratory tract infection was made. Clinical examination was unremarkable except slightly decreased breath sounds at the anterior upper chest which led to requesting a chest X-ray (Fig. 1). Chest radiograph showed attenuated lung marking in the left upper lobe with evidence of hyperinflation. Pulmonary function test were normal with force expiratory volume in 1 s (FEV1) at 92% predicted. His arterial blood gases were within normal range. A computerized tomogram (CT scan) (Fig. 2) of the chest revealed hyperinflation of left upper lobe with scarcity of the vessels and slight mediastinal shift to the right while rest of the lung parenchyma was normal. (Fig. 3) All the bronchi visible on CT scan were patent. A diagnosis of left upper lobe emphysema was made. To confirm the diagnosis a ventilation perfusion scan (Fig. 4) was done which showed minimal perfusion in the left upper lobe. A magnetic resonance angiographic (MRA) (Fig. 5) imaging revealed thin spread out vessels in the left upper lobe characteristic of lobar emphysema. In view of very mild mediastinal shift on imaging and absence of respiratory symptoms patient was reassured and advise to have a routine follow-up in the clinic. 2. Discussion Congenital Lobar Emphysema is a rare illness with a prevalence of 4.5/100,000. Males appear to be affected more than females, in
* Corresponding author. Tel.: þ966 1 4427493; fax: þ966 1 4427499. E-mail address: [email protected] (M. Khalid). 1755-0017/$36.00 Ó 2009 Elsevier Ltd. All rights reserved. doi:10.1016/j.rmedc.2009.09.010
a ratio of 3:1.This malformation of the lung is of unknown etiology characterized by over-distension of the affected lobe leading to compression and displacement of adjacent lung parenchyma and mediastinal structures.1–4 Left upper lobe is most often affected in about 50% of patients followed by right middle lobe, right upper lobe and lower lobes. Multiple lobar involvement is very rare.5 Most cases are sporadic while some cases have autosomal dominant inheritance. The pathophysiological mechanism in development of CLE is not clear and is most likely multifactorial involving bronchial cartilage abnormalities, bronchial obstruction, vascular anomalies, intrinsic alveolar disease6,7 and perhaps congenital cytomegalovirus infection.8 The most frequently identified cause of CLE is obstruction of the developing airway, which occurs in 25 percent of cases, leading to ball valve obstruction and air trapping causing emphysema. Symptoms appear during the neonatal period in the majority of cases, or in early childhood. About 50% of patients are identified in the first month of life while almost all by the age 6 months.9–11 Very rarely, CLE is detected in adult patients who did not experience any symptoms during childhood.12,13 Concomitant congenital heart disease may be found in12–20% of cases of CLE.14 Clinically, children present with signs of respiratory distress, frequently occurring with a superimposed lower respiratory tract infection that aggravates air trapping. Respiratory distress may be abrupt or insidious and some patients may remain asymptomatic for years. Physical examination may reveal evidence of tachypnea, accessory respiratory muscle use, wheezing, resonant percussion note, decreased breath sounds, vocal fremitus and resonance at the site of the lobar involvement.15,16 Diagnosis is apparent on plain chest X-ray although CT scan of chest or MRI is needed in certain cases to make a definitive diagnosis and to identify other pulmonary conditions that may mimic CLE such as pneumothorax or localized pulmonary interstitial emphysema congenital cystic adenomatoid malformation, bronchopulmonary
M. Khalid et al. / Respiratory Medicine CME 3 (2010) 150–152
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Fig. 1. Chest X-ray showing hyper-inflated left upper lobe.
Fig. 2. CT scan of chest showing hyper-inflated left upper lobe with scarcity of pulmonary vessels.
sequestration, bronchogenic cyst, and congenital diaphragmatic hernia. Ventilation perfusion scan in CLE shows characteristic decrease in ventilation and perfusion in the affected lobe.17–19 Bronchoscopy or biopsy is only occasionally needed to make
Fig. 4. Perfusion lung scan showing significantly diminished perfusion of left upper lobe.
a diagnosis of CLE in atypical cases. Prenatal diagnosis of CLE can sometimes be made ultrasonography.20,21 The management of CLE in symptomatic children is surgical resection either by thoracotomy or thoracoscopic approach. Despite the abnormalities on pulmonary function test, most surgically treated patients will be asymptomatic and will have normal growth and development.22,23 Patients with minimal or no symptoms can be managed conservatively.24–26 In conclusion CLE is a rare disease which affects mainly children in their very early months of life. Most children with this illness are symptomatic and require surgical intervention. There are only a few case reports of CLE in adults and the management of these patients is according to the symptom severity and radiological features. Conflict of interest
Fig. 3. CT chest showing normal parenchyma of both lower lobes.
We, the authors, have submitted for consideration for possible publication in the Respiratory Medicine CME a case report entitled ‘‘Congenital Lobar Emphysema in Adult: A Rare Case Report’’. We hereby certify that, to the best of our knowledge, the work which is reported in the said case report has not received financial support from any pharmaceutical company or other commercial source except as described below, and neither us nor any first
152
M. Khalid et al. / Respiratory Medicine CME 3 (2010) 150–152
Fig. 5. MRA of chest showing scarcity and splaying of vessels of left upper lobe.
degree relative has any special financial interest in the subject matter discussed in said case report. We, the authors, transfer all copyright ownership of the case report referenced above to Respiratory Medicine CME, in the event the work is published. We warrant the article is original, does not infringe upon any copyright or other property right of any third party, is not consideration by any other journal and has not been published previously. We have approved and reviewed the submitted version of the case report and agree to its publication in the Respiratory Medicine CME. References 1. Haller Jr JA, Golladay ES, Pickard LR, Tepas JJ, Shorter NA, Shermeta DW. Surgical management of lung bud anomalies: lobar emphysema, bronchogenic cyst, cystic adenomatoid malformation and intralobar pulmonary sequestration. Ann Thorac Surg 1978;28:33–43. 2. Kravitz RM. Congenital malformations of the lung. Pediatr Clin North Am 1994;41:453. 3. Stanton M, Davenport M. Management of congenital lung lesions. Early Hum Dev 2006;82:289. 4. Thakral CL, Maji DC, Sajwani MJ. Congenital lobar emphysema: experience with 21 cases. Pediatr Surg Int 2001;17:88. 5. DeLuca FG, Wesselhoeft CW. Surgically treatable causes of neonatal respiratory distress. Clin Perinatol 1978;5:377. 6. Lierl M. Congenital abnormalities. In: Hilman BC, editor. Pediatric respiratory disease: diagnosis and treatment. Philadelphia: W.B. Saunders Company; 1993. p. 468–72. 7. Stigers KB, Woodring JH, Kanga JF. The clinical and imaging spectrum of findings in patients with congenital lobar emphysema. Pediatr Pulmonol 1992;14(3):160–70. 8. Carrol ED, Campbell ME, Shaw BN, Pilling DW. Congenital lobar emphysema in congenital cytomegalovirus infection. Pediatr Radiol 1996;26(12):900–2. 9. Karapurkar SA, Borkar JD, Birmole BJ. Malformation of lung in neonates (lobectomy for congenital lobar emphysema and lung cyst). J Postgrad Med 1993;39:224.
10. Stocker JT, Drake RM, Madewell JE. Cystic and congenital lung disease in the newborn. Perspect Pediatr Pathol 1978;4:93. 11. Wegener WA, Velchick MG. Ventilation-perfusion scintigraphy in an adult with congenital unilateral hyperlucent lung. Clin Nucl Med 1990;15:683–7. 12. McDonald CF, Pierce RJ, Barter CE, Chou ST, Daniel FJ. Congenital lobar emphysema requiring surgery in adult life. Aust NZJ Med 1986;16:501–5. 13. Bailey PV, Tracy Jr T, Connors RH, deMello D, Lewis EJ, Weber TR. Congenital bronchopulmonary malformations. Thorac Cardiovasc Surg 1990;99:597–603. 14. Krummel TM. Congenital malformation of the lower respiratory tract. In: Chernick V, Boat TF, editors. Kendig’s disorders of the respiratory tract in children. 6th ed. Philadelphia: W.B. Saunders Company; 1998. p. 310–1. 15. Mei-Zahav M, Konen O, Manson D, Langer JC. Is congenital lobar emphysema a surgical disease? J Pediatr Surg 2006;41:1058. 16. Nuchtern JG, Harberg FJ. Congenital lung cysts. Semin Pediatr Surg 1994;3:233. 17. Markowitz RI, Mercurio MR, Vahjen GA, Gross I, Touloukian RJ. Congenital lobar emphysema. The roles of CT and V/Q scan. Clin Pediatr (Phila) 1989;28:19. 18. Pardes JG, Auh YH, Blomquist K, Kazani E, Magid M. CT diagnosis of congenital lobar emphysema. J Comput Assist Tomogr 1983;7:1095. 19. Winters WD, Effmann EL. Congenital masses of the lung: prenatal and postnatal imaging evaluation. J Thorac Imaging 2001;16:4. 20. Ankermann T, Oppermann HC, Engler S, Leuschner I, von Kaisenberg CS. Congenital masses of the lung, cystic adenomatoid malformation versus congenital lobar emphysema: prenatal diagnosis and implications for postnatal treatment. J Ultrasound Med 2004;23:1379. 21. Babu R, Kyle P, Spicer RD. Prenatal sonographic features of congenital lobar emphysema. Fetal Diagn Ther 2001;16:200. 22. Duan M, Wang L, Cao Y, Li Z, Yang W, Rao X, et al. Results of surgical treatment of congenital cystic lung disease. Thorac Cardiovasc Surg 2005;53:61. 23. Choudhury SR, Chadha R, Mishra A, Kumar V, Singh V, Dubey NK. Lung resections in children for congenital and acquired lesions. Pediatr Surg Int 2007;23:851. 24. Landing BH, Dixon LG. Congenital malformations and genetic disorders of the respiratory tract (larynx, trachea, bronchi, and lungs). Am Rev Respir Dis 1979;120:151. 25. Eber E. Antenatal diagnosis of congenital thoracic malformations: early surgery, late surgery, or no surgery? Semin Resp Crit Care Med 2007;28(3):355–66. 26. Philipos EZ, Libsekal K. Flexible bronchoscopy in the management of congenital lobar emphysema in the neonate. Can Respir J 1998;5(3):219–21.
Contents lists available at ScienceDirect
Respiratory Medicine CME journal homepage: www.elsevier.com/locate/rmedc
Case Report
Congenital lobar emphysema in adult: A rare case report M. Khalid*, S. Saleemi, B. Khan Section of Pulmonary Medicine, Department of Medicine MBC 46 King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia
a r t i c l e i n f o
a b s t r a c t
Article history: Received 27 July 2009 Accepted 4 September 2009
Congenital lobar emphysema (CLE) is a very rare disease characterized by over-distension of the affected lobe leading to compression and displacement of adjacent normal lung tissue and mediastinum. We present a case of 18 years old male who presented with symptoms of acute bronchitis and routine chest X-ray led to the suspicion of CLE which was confirmed by advance imaging techniques. We reviewed the literature to discuss this very rare illness which almost always present in early years of life and only a handful cases are reported in adults. Ó 2009 Elsevier Ltd. All rights reserved.
Keywords: Congenital Emphysema Mediastinum
1. Case report An 18 years old, non-smoker, male student with no previous health problems presented with symptoms of fever, cough and sputum production. A preliminary diagnosis of upper respiratory tract infection was made. Clinical examination was unremarkable except slightly decreased breath sounds at the anterior upper chest which led to requesting a chest X-ray (Fig. 1). Chest radiograph showed attenuated lung marking in the left upper lobe with evidence of hyperinflation. Pulmonary function test were normal with force expiratory volume in 1 s (FEV1) at 92% predicted. His arterial blood gases were within normal range. A computerized tomogram (CT scan) (Fig. 2) of the chest revealed hyperinflation of left upper lobe with scarcity of the vessels and slight mediastinal shift to the right while rest of the lung parenchyma was normal. (Fig. 3) All the bronchi visible on CT scan were patent. A diagnosis of left upper lobe emphysema was made. To confirm the diagnosis a ventilation perfusion scan (Fig. 4) was done which showed minimal perfusion in the left upper lobe. A magnetic resonance angiographic (MRA) (Fig. 5) imaging revealed thin spread out vessels in the left upper lobe characteristic of lobar emphysema. In view of very mild mediastinal shift on imaging and absence of respiratory symptoms patient was reassured and advise to have a routine follow-up in the clinic. 2. Discussion Congenital Lobar Emphysema is a rare illness with a prevalence of 4.5/100,000. Males appear to be affected more than females, in
* Corresponding author. Tel.: þ966 1 4427493; fax: þ966 1 4427499. E-mail address: [email protected] (M. Khalid). 1755-0017/$36.00 Ó 2009 Elsevier Ltd. All rights reserved. doi:10.1016/j.rmedc.2009.09.010
a ratio of 3:1.This malformation of the lung is of unknown etiology characterized by over-distension of the affected lobe leading to compression and displacement of adjacent lung parenchyma and mediastinal structures.1–4 Left upper lobe is most often affected in about 50% of patients followed by right middle lobe, right upper lobe and lower lobes. Multiple lobar involvement is very rare.5 Most cases are sporadic while some cases have autosomal dominant inheritance. The pathophysiological mechanism in development of CLE is not clear and is most likely multifactorial involving bronchial cartilage abnormalities, bronchial obstruction, vascular anomalies, intrinsic alveolar disease6,7 and perhaps congenital cytomegalovirus infection.8 The most frequently identified cause of CLE is obstruction of the developing airway, which occurs in 25 percent of cases, leading to ball valve obstruction and air trapping causing emphysema. Symptoms appear during the neonatal period in the majority of cases, or in early childhood. About 50% of patients are identified in the first month of life while almost all by the age 6 months.9–11 Very rarely, CLE is detected in adult patients who did not experience any symptoms during childhood.12,13 Concomitant congenital heart disease may be found in12–20% of cases of CLE.14 Clinically, children present with signs of respiratory distress, frequently occurring with a superimposed lower respiratory tract infection that aggravates air trapping. Respiratory distress may be abrupt or insidious and some patients may remain asymptomatic for years. Physical examination may reveal evidence of tachypnea, accessory respiratory muscle use, wheezing, resonant percussion note, decreased breath sounds, vocal fremitus and resonance at the site of the lobar involvement.15,16 Diagnosis is apparent on plain chest X-ray although CT scan of chest or MRI is needed in certain cases to make a definitive diagnosis and to identify other pulmonary conditions that may mimic CLE such as pneumothorax or localized pulmonary interstitial emphysema congenital cystic adenomatoid malformation, bronchopulmonary
M. Khalid et al. / Respiratory Medicine CME 3 (2010) 150–152
151
Fig. 1. Chest X-ray showing hyper-inflated left upper lobe.
Fig. 2. CT scan of chest showing hyper-inflated left upper lobe with scarcity of pulmonary vessels.
sequestration, bronchogenic cyst, and congenital diaphragmatic hernia. Ventilation perfusion scan in CLE shows characteristic decrease in ventilation and perfusion in the affected lobe.17–19 Bronchoscopy or biopsy is only occasionally needed to make
Fig. 4. Perfusion lung scan showing significantly diminished perfusion of left upper lobe.
a diagnosis of CLE in atypical cases. Prenatal diagnosis of CLE can sometimes be made ultrasonography.20,21 The management of CLE in symptomatic children is surgical resection either by thoracotomy or thoracoscopic approach. Despite the abnormalities on pulmonary function test, most surgically treated patients will be asymptomatic and will have normal growth and development.22,23 Patients with minimal or no symptoms can be managed conservatively.24–26 In conclusion CLE is a rare disease which affects mainly children in their very early months of life. Most children with this illness are symptomatic and require surgical intervention. There are only a few case reports of CLE in adults and the management of these patients is according to the symptom severity and radiological features. Conflict of interest
Fig. 3. CT chest showing normal parenchyma of both lower lobes.
We, the authors, have submitted for consideration for possible publication in the Respiratory Medicine CME a case report entitled ‘‘Congenital Lobar Emphysema in Adult: A Rare Case Report’’. We hereby certify that, to the best of our knowledge, the work which is reported in the said case report has not received financial support from any pharmaceutical company or other commercial source except as described below, and neither us nor any first
152
M. Khalid et al. / Respiratory Medicine CME 3 (2010) 150–152
Fig. 5. MRA of chest showing scarcity and splaying of vessels of left upper lobe.
degree relative has any special financial interest in the subject matter discussed in said case report. We, the authors, transfer all copyright ownership of the case report referenced above to Respiratory Medicine CME, in the event the work is published. We warrant the article is original, does not infringe upon any copyright or other property right of any third party, is not consideration by any other journal and has not been published previously. We have approved and reviewed the submitted version of the case report and agree to its publication in the Respiratory Medicine CME. References 1. Haller Jr JA, Golladay ES, Pickard LR, Tepas JJ, Shorter NA, Shermeta DW. Surgical management of lung bud anomalies: lobar emphysema, bronchogenic cyst, cystic adenomatoid malformation and intralobar pulmonary sequestration. Ann Thorac Surg 1978;28:33–43. 2. Kravitz RM. Congenital malformations of the lung. Pediatr Clin North Am 1994;41:453. 3. Stanton M, Davenport M. Management of congenital lung lesions. Early Hum Dev 2006;82:289. 4. Thakral CL, Maji DC, Sajwani MJ. Congenital lobar emphysema: experience with 21 cases. Pediatr Surg Int 2001;17:88. 5. DeLuca FG, Wesselhoeft CW. Surgically treatable causes of neonatal respiratory distress. Clin Perinatol 1978;5:377. 6. Lierl M. Congenital abnormalities. In: Hilman BC, editor. Pediatric respiratory disease: diagnosis and treatment. Philadelphia: W.B. Saunders Company; 1993. p. 468–72. 7. Stigers KB, Woodring JH, Kanga JF. The clinical and imaging spectrum of findings in patients with congenital lobar emphysema. Pediatr Pulmonol 1992;14(3):160–70. 8. Carrol ED, Campbell ME, Shaw BN, Pilling DW. Congenital lobar emphysema in congenital cytomegalovirus infection. Pediatr Radiol 1996;26(12):900–2. 9. Karapurkar SA, Borkar JD, Birmole BJ. Malformation of lung in neonates (lobectomy for congenital lobar emphysema and lung cyst). J Postgrad Med 1993;39:224.
10. Stocker JT, Drake RM, Madewell JE. Cystic and congenital lung disease in the newborn. Perspect Pediatr Pathol 1978;4:93. 11. Wegener WA, Velchick MG. Ventilation-perfusion scintigraphy in an adult with congenital unilateral hyperlucent lung. Clin Nucl Med 1990;15:683–7. 12. McDonald CF, Pierce RJ, Barter CE, Chou ST, Daniel FJ. Congenital lobar emphysema requiring surgery in adult life. Aust NZJ Med 1986;16:501–5. 13. Bailey PV, Tracy Jr T, Connors RH, deMello D, Lewis EJ, Weber TR. Congenital bronchopulmonary malformations. Thorac Cardiovasc Surg 1990;99:597–603. 14. Krummel TM. Congenital malformation of the lower respiratory tract. In: Chernick V, Boat TF, editors. Kendig’s disorders of the respiratory tract in children. 6th ed. Philadelphia: W.B. Saunders Company; 1998. p. 310–1. 15. Mei-Zahav M, Konen O, Manson D, Langer JC. Is congenital lobar emphysema a surgical disease? J Pediatr Surg 2006;41:1058. 16. Nuchtern JG, Harberg FJ. Congenital lung cysts. Semin Pediatr Surg 1994;3:233. 17. Markowitz RI, Mercurio MR, Vahjen GA, Gross I, Touloukian RJ. Congenital lobar emphysema. The roles of CT and V/Q scan. Clin Pediatr (Phila) 1989;28:19. 18. Pardes JG, Auh YH, Blomquist K, Kazani E, Magid M. CT diagnosis of congenital lobar emphysema. J Comput Assist Tomogr 1983;7:1095. 19. Winters WD, Effmann EL. Congenital masses of the lung: prenatal and postnatal imaging evaluation. J Thorac Imaging 2001;16:4. 20. Ankermann T, Oppermann HC, Engler S, Leuschner I, von Kaisenberg CS. Congenital masses of the lung, cystic adenomatoid malformation versus congenital lobar emphysema: prenatal diagnosis and implications for postnatal treatment. J Ultrasound Med 2004;23:1379. 21. Babu R, Kyle P, Spicer RD. Prenatal sonographic features of congenital lobar emphysema. Fetal Diagn Ther 2001;16:200. 22. Duan M, Wang L, Cao Y, Li Z, Yang W, Rao X, et al. Results of surgical treatment of congenital cystic lung disease. Thorac Cardiovasc Surg 2005;53:61. 23. Choudhury SR, Chadha R, Mishra A, Kumar V, Singh V, Dubey NK. Lung resections in children for congenital and acquired lesions. Pediatr Surg Int 2007;23:851. 24. Landing BH, Dixon LG. Congenital malformations and genetic disorders of the respiratory tract (larynx, trachea, bronchi, and lungs). Am Rev Respir Dis 1979;120:151. 25. Eber E. Antenatal diagnosis of congenital thoracic malformations: early surgery, late surgery, or no surgery? Semin Resp Crit Care Med 2007;28(3):355–66. 26. Philipos EZ, Libsekal K. Flexible bronchoscopy in the management of congenital lobar emphysema in the neonate. Can Respir J 1998;5(3):219–21.