Perinatal/Neonatal Case Presentation - Nature

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Apr 21, 2005 - upper airway, hyperplastic lungs, elevated diaphragm, massive fetal ascites and fetal ... pulmonary hyperplasia and laryngeal stenosis/atresia.
Perinatal/Neonatal Case Presentation Fetal Laryngeal Stenosis/Atresia and Congenital High Airway Obstructive Syndrome (CHAOS): A Case Report Peilin Zhang, MD, PhD Dan Herring, BS Linda Cook, MD Heather Mertz, MD

Congenital high airway obstructive syndrome (CHAOS) is a rare but fatal disease with predictably characteristic features including stenotic or atretic upper airway, hyperplastic lungs, elevated diaphragm, massive fetal ascites and fetal hydrops. Diagnosis of CHAOS by ultrasound scan is possible and clinically important since advanced intrauterine surgery to correct the defect is possible. We report a case of fetus of CHAOS with massive ascites, pulmonary hyperplasia and laryngeal stenosis/atresia. We feel that it is important to recognize the entity both by ultrasound scan and by the pathologist so that some cases can be corrected by intrauterine fetal surgery. Journal of Perinatology (2005) 25, 426–428. doi:10.1038/sj.jp.7211329 Published online 21 April 2005

INTRODUCTION Congenital high airway obstructive syndrome is a rare developmental abnormality and it consists of a spectrum of stenosis and atresia of the upper airway including trachea and larynx.1,2 The predominant clinical features of this syndrome include hyperplasia of the lungs and massive fetal ascites due to abnormal blood flow due to the compression of the heart by the hyperplastic lungs and the elevated diaphragm.1,2 The upper airways are either severely stenotic or even atretic. It is important to know this rare entity so that some of these cases can be corrected by intrauterine fetal surgery once the diagnosis is made early.3,4 We report a case of severe laryngeal stenosis/atresia associated with remarkable pulmonary hyperplasia and fetal ascites.

Department of Pathology, Obstetrics and Gynecology, West Virginia University, Morgantown, WV, USA. Address correspondence and reprint requests to Peilin Zhang, MD, PhD, Putnam General Hospital, 1400 Hospital Drive, Hurricane, WV 25526, USA.

CASE REPORT The mother was 17 years old, gravida 1 at 19 weeks and 0 days by gestational age, which was confirmed by ultrasound. She was referred to us with multiple fetal anomalies discovered on a routine ultrasound screening. The patient’s pregnancy history was unremarkable, and she had not taken any prescription drugs. Her past medical history was positive only for recurrent urinary tract infection and pyelonephritis requiring hospitalization. Surgery history was negative. She denied any known drug allergies. Her social history was negative for tobacco, alcohol or illicit drug use. Her family history was unremarkable. Ultrasound at West Virginia University was performed. The estimated fetal weight was 832 g. The abdominal circumference was greater than the 97th percentile and the head circumference to 15th percentile. A three-vessel umbilical cord with central cord insertion was seen. The placenta was unremarkable. The amniotic fluid was normal. The kidneys bilaterally were not visualized optimally. The nuchal fold, the left ventricular outflow tract, right ventricular outflow tract, the aortic arch, the lungs, the bowel, the abdominal cavity, left toes and right toes were grossly abnormal. There was a morbidly enlarged abdominal circumference measurement, which was secondary to fetal ascites. There was a large echogenic mass in the thoracic cavity in the pulmonary space surrounding the fetal heart (Figure 1b). The fetal heart did appear to be compressed with distortion of the outflow tracts. Fetal hydrops with a copious amount of abdominal ascites, echogenic bowel, bilaterally splayed toes and an 11 mm cystic hygroma were also noted. Based on these findings, the patient opted for a termination of pregnancy via induction. The family requested autopsy of the fetus. The fetus weighed 850 g with a large distended abdomen (normal at this age 380 g) (Figure 1a). The fetal measurements were consistent with the gestational age of 20 weeks except for the fetal weight. There was a large amount of serous ascites within the abdominal cavity, compressing the visceral organs, but there was no gross or microscopic abnormality with the organs, such as liver, bilateral kidneys and adrenals, urinary bladder, spleen, pancreas and the gastrointestinal tract. The diaphragm was significantly elevated due to the ascites, compressing the thoracic organs including heart and the lungs. Bilateral lungs were significantly enlarged, compressing the heart and obstructing the blood flow. The apex of the heart was towards right front, instead of left due to the enlarged lungs and the elevated diaphragm. There were multiple rib compression marks on the visceral surface of the lungs Journal of Perinatology 2005; 25:426–428 r 2005 Nature Publishing Group All rights reserved. 0743-8346/05 $30

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Figure 1. Autopsy and ultrasound examinations of the 19 weeks fetus with distended abdomen. (a) Gross photograph of the fetus. (b) Ultrasound scanning of the fetal lung and heart with echogenic lungs. Fetal heart of four chambers was visualized. (c) Posterior view of the fetal lungs and heart. Marked rib compression was present. (d) Fetal airway stenosis/atresia at the level of the larynx.

(Figure 1c). The total heart and lungs weighed 56 g. Microscopically, the lungs were developed normally except for the marked uniform expansion of the alveolar spaces. Bronchial cartilage was unremarkable. Examination of the heart was unremarkable. The trachea was otherwise unremarkable except that at the level of larynx, the cartilaginous ring was poorly developed, so that the larynx was markedly stenotic/atretic (Figure 1d). The placenta was maturing normally, weighed 265 g with multiple intervillous thrombi. Karyotypic analysis of fetal cord blood shows normal 46, XX female. No chromosomal abnormality was noted.

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a direct connection between the cystic hygroma to the larynx, and the cystic hygroma in this case was fairly small (1.1 cm on ultrasound). The fetal lung development in our case increases significantly due to the distention of the lung parenchyma.5 This phenomenon has been successfully reproduced in the experimental sheep model where the upper airway occlusion stimulated the lung development.6–8 The lung fluid retention (more prominent in sheep) within the alveolar spaces appears to be important for fetal lung growth, and the distention of lung tissue by the fluid appears to promote the lung development.5,7 We performed the immunohistochemical staining of the lung tissue for surfactant expression. Surprisingly, we did not see any expression of surfactant within the lung tissue whereas the normal lung at this stage of development showed abundant expression of surfactant (not shown). In sheep model, the lack of surfactant C mRNA expression was also observed after the trachea was occluded, and this decreased mRNA expression of surfactant C was found to be due to the decrease in numbers of the type II pneumocytes.9,10 Interestingly, after the tracheal occlusion was released, decreased surfactant C mRNA expression and the numbers of type II pneumocytes reversed to normal levels.10 The etiology of the lack of surfactant expression in human in this case remains unclear. It is likely due to similar mechanism as seen in the sheep model, but the caution is noted since the amniotic fluid circulation is significantly different in the two species. Recognition of the laryngeal stenosis or atresia prenatally by ultrasound scan has clinical implication, since advanced intrauterine fetal surgery can correct some of the defects with intrauterine fetal tracheoplasty or total resection and anastomosis.3,4,8,11,12 Surgical management of laryngeal/tracheal stenosis has been fairly successful with long-term survival.8,11,12 Ex utero intrapartum treatment (EXIT) procedure has been utilized successfully in management of a fetus with CHAOS to achieve longterm survival.12 It is also important for the pathologists to recognize this entity in order to carefully examine the larynx and trachea to provide comprehensive explanation of the disease to the patients so that further complex genetic counseling is avoided.

DISCUSSION Laryngeal stenosis or atresia is rare, and relatively more common is the tracheal stenosis than atresia.1 The stenosis or atresia can occur anywhere along the trachea.3 There are different types of tracheal stenosis or atresia, long or short forms. In the long form of tracheal stenosis, the entire trachea is narrowed, while the short form only involves a few or even a single ring of cartilage.3 The etiology of the laryngeal stenosis is unclear, and this condition is generally sporadic in occurrence. Our case presented in this report showed a cystic hygroma on the neck. Cystic hygromas in the medistinium and the neck have been reported to compress or affect the function of larynx and tracheo-bronchial tree, and may be the cause of the laryngeal stenosis/atresia.4 We did not see Journal of Perinatology 2005; 25:426–428

References 1. Wigglesworth JS. Textbook of Fetal and Perinatal Pathology. Oxford: Blackwell Science; 1998. 2. Morrison PJ, Macphail S, Williams D, et al. Laryngeal atresia or stenosis presenting as second-trimester fetal ascites F diagnosis and pathology in three independent cases. Prenat Diagn 1998;18:963–7. 3. Acosta AC, Albanese CT, Farmer DL, et al. Tracheal stenosis: the long and the short of it. J Pediatr Surg 2000;35:1612–6. 4. Hedrick MH, Ferro MM, Filly RA, et al. Congenital high airway obstruction syndrome (CHAOS): a potential for perinatal intervention. J Pediatr Surg 1994;29:271–4. 5. Wigglesworth JS, Desai R, Hislop AA. Fetal lung growth in congenital laryngeal atresia. Pediatr Pathol 1987;7:515–25. 427

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6. Beierle EA, Langham Jr MR, Cassin S. In utero lung growth of fetal sheep with diaphragmatic hernia and tracheal stenosis. J Pediatr Surg 1996;31:141–6; discussion 146–7. 7. Liggins GC. Growth of the fetal lung. J Dev Physiol 1984;6:237–48. 8. deLorimier AA, Harrison MR, Hardy K, Howell LJ, Adzick NS. Tracheobronchial obstructions in infants and children. Experience with 45 cases. Ann Surg 1990;212:277–89. 9. Bin Saddig W, Piedboeuf B, Laberge JM, et al. The effects of tracheal occlusion and release on type II pneumocytes in fetal lambs. J Pediatr Surg 1997;32:834–8.

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10. Piedboeuf B, Laberge JM, Ghitulescu G, et al. Deleterious effect of tracheal occlusion on type II pneumocytes in fetal sheep. Pediatr Res 1997; 41:473–9. 11. Lim FY, Crombleholme TM, Hedrick HL. Congenital high airway obstruction syndrome: natural history and management. J Pediatr Surg 2003;38:940–5. 12. Crombleholme TM, Sylvester K, Flake AW, Adzick NS. Salvage of a fetus with congenital high airway obstruction syndrome by ex utero intrapartum treatment (EXIT) procedure. Fetal Diagn Ther 2000; 15:280–2.

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