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J Pediatr Genet 2024; 13(01): 057-061
DOI: 10.1055/s-0041-1736609
Case-Based Review

Laryngotracheomalacia in a Patient with Mosaic Trisomy 8

Mateus A. de Souza 
1   Department of Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
,
Jéssica K. Hartmann 
1   Department of Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
,
Laira F. F. Zottis 
1   Department of Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
,
Thiago K. K. Gama 
1   Department of Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
,
Ernani B. da Rosa 
2   Postgraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
,
Paulo R. G. Zen 
2   Postgraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
3   Department of Clinical Medicine, Clinical Genetics Service, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
4   Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
,
Rafael F. M. Rosa 
2   Postgraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
3   Department of Clinical Medicine, Clinical Genetics Service, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
4   Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
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Abstract

Mosaic trisomy 8 is a condition characterized by a great phenotypic and cytogenetic variability whose incidence ranges around 1 in 25,000 to 50,000 live births. Here, we report a mosaic trisomy 8 patient presenting laryngotracheomalacia, an uncommon finding, analyzing its possible role over morbidity, and mortality. The patient was a boy who, after birth, had tachypnea and paleness. He presented periods of respiratory dysfunction with need of ventilatory support. Respiratory syncytial virus test was positive. Naso fibrobronchoscopy showed moderate laryngotracheomalacia. He also had recurrent episodes of pneumonia and difficulty in withdrawing continuous positive airway pressure. The patient also presented leucoma, abnormal and low-set ears, pectus excavatum, clenched fists with overlapping fingers, cryptorchidism, clubfeet, and deep longitudinal plantar creases. G-bands by Trypsin using giemsa (GTG-banding) karyotype from a peripheral blood sample revealed a mosaic trisomy 8: mos 47,XY, + 8[15]/46,XY[7]. At 4 months, the patient developed respiratory failure, and a chest computed tomography scan showed areas of atelectasis and gross fibroatelectatic striae. He ended up presenting clinical worsening and died at 4 months and 8 days. In our literature review, we found some reports describing patients with mosaic trisomy 8 and laryngotracheomalacia. However, we cannot rule out the possibility that this association could be casual, since laryngotracheomalacia is a relatively common finding in children. Therefore, more studies are still necessary to understand the possible relation between both conditions and the role of laryngotracheomalacia over morbidity and prognosis of mosaic trisomy 8 patients.

Keywords

mosaic trisomy 8 - laryngotracheomalacia - respiratory failure


Publication History

Received: 29 April 2021

Accepted: 20 September 2021

Article published online:
11 November 2021

© 2021. Thieme. All rights reserved.

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  • References

  • 1 Alvi F, Alonso A, Brewood AF. Upper limb abnormalities in mosaic trisomy 8 syndrome. Arch Orthop Trauma Surg 2004; 124 (10) 718-719
    Google Scholar
  • 2 Wiśniewska M, Mazurek M. Trisomy 8 mosaicism syndrome. J Appl Genet 2002; 43 (01) 115-118
    Google Scholar
  • 3 Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Man. 2nd ed.. Berlin, Germany: Walter de Gruyter, GmbH & Co; 2001
    Google Scholar
  • 4 Mellish RWP, Koop CE. Clinical manifestations of duplication of the bowel. Pediatrics 1961; 27 (01) 397-407
    Google Scholar
  • 5 Karadima G, Bugge M, Nicolaidis P. et al. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur J Hum Genet 1998; 6 (05) 432-438
    Google Scholar
  • 6 Chen CP, Chen M, Pan YJ. et al. Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review. Taiwan J Obstet Gynecol 2011; 50 (03) 331-338
    Google Scholar
  • 7 Hulley BJ, Hummel M, Cook LL, Boyd BK, Wenger SL. Trisomy 8 mosaicism: selective growth advantage of normal cells vs. growth disadvantage of trisomy 8 cells. Am J Med Genet A 2003; 116A (02) 144-146
    Google Scholar
  • 8 Hasegawa T, Oshima Y, Sato Y, Tanaka A. Surgical repair of total anomalous pulmonary venous connection in a neonate with mosaic trisomy 8. World J Pediatr Congenit Heart Surg 2016; 7 (02) 231-233
    Google Scholar
  • 9 Donaghue C, Mann K, Docherty Z, Ogilvie CM. Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenat Diagn 2005; 25 (01) 65-72
    Google Scholar
  • 10 Ballif BC, Rorem EA, Sundin K. et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 2006; 140 (24) 2757-2767
    Google Scholar
  • 11 Shaffer LG, Kashork CD, Saleki R. et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006; 149 (01) 98-102
    Google Scholar
  • 12 Cross J, Peters G, Wu Z, Brohede J, Hannan GN. Resolution of trisomic mosaicism in prenatal diagnosis: estimated performance of a 50K SNP microarray. Prenat Diagn 2007; 27 (13) 1197-1204
    Google Scholar
  • 13 Hendson W, Levin SE, Govendrageloo K, Hunter V. Multiple cardiac abnormalities in a case of non-mosaic trisomy 8. Cardiovasc J S Afr 2003; 14 (03) 138-140
    Google Scholar
  • 14 Stark DJ, Gilmore DW, Vance JC, Pearn JH. A corneal abnormality associated with trisomy 8 mosaicism syndrome. Br J Ophthalmol 1987; 71 (01) 29-31
    Google Scholar
  • 15 Stone DU, Siatkowski RM. Congenital retinal dystrophy and corneal opacity in trisomy 8 mosaicism. J AAPOS 2005; 9 (03) 290-291
    Google Scholar
  • 16 Datta A, Picker J, Rotenberg A. Trisomy 8 mosaicism and favorable outcome after treatment of infantile spasms: case report. J Child Neurol 2010; 25 (10) 1275-1277
    Google Scholar
  • 17 Doell C, Bernet V, Molinari L, Beck I, Balmer C, Latal B. Children with genetic disorders undergoing open-heart surgery: are they at increased risk for postoperative complications?. Pediatr Crit Care Med 2011; 12 (05) 539-544
    Google Scholar
  • 18 Chen CP, Chern SR, Wu PS. et al. Prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome. Taiwan J Obstet Gynecol 2017; 56 (06) 840-842
    Google Scholar
  • 19 Kouzak SS, Mendes MS, Costa IM. Cutaneous mosaicisms: concepts, patterns and classifications. An Bras Dermatol 2013; 88 (04) 507-517
    Google Scholar
  • 20 Boogaard R, Huijsmans SH, Pijnenburg MW, Tiddens HA, de Jongste JC, Merkus PJ. Tracheomalacia and bronchomalacia in children: incidence and patient characteristics. Chest 2005; 128 (05) 3391-3397
    Google Scholar
  • 21 Masters IB, Zimmerman PV, Pandeya N, Petsky HL, Wilson SB, Chang AB. Quantified tracheobronchomalacia disorders and their clinical profiles in children. Chest 2008; 133 (02) 461-467
    Google Scholar
  • 22 Bedwell J, Zalzal G. Laryngomalacia. Semin Pediatr Surg 2016; 25 (03) 119-122
    Google Scholar
  • 23 Ray M, Hunter AG. Partial trisomy 8 mosaicism with 46,XX/46,XX-8,+dic(8). Ann Genet 1980; 23 (02) 100-102
    Google Scholar
  • 24 Chiong MA, Salonga EA, Paz EM. Trisomy 8 mosaicism in two Filipino children. Acta Med Philipp 2008; 42 (02) 55-59
    Google Scholar