Intraoperative Diagnosis of Meconium Ileus in a Neonatal with a Positive Screening for Cystic Fibrosis. A Case Report
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Jan 30, 2023
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Abstract
Meconium ileus is defined as the retention of meconium, usually in the distal ileum, which produces intestinal obstruction in the newborn in the first days for different reasons, however, cystic fibrosis accounts for 15-20% of the cases. That is why, during postnatal diagnosis, basic neonatal screening becomes especially important due to the ease of its performance, by measuring immunoreactive trypsinogen, a mandatory test in Colombia since 2019. This article presents the case of a newborn with prenatal diagnosis and postnatal findings of intestinal obstruction led to surgery, and in whom meconium pearls were found. Its diagnosis, evolution, complications and challenges in management are described.
Keywords
ileo meconial, Tamizaje metabólico básico, fibrosis quistica, neonato, recién nacidomeconium ileus, neonatal screening, cystic fibrosis, neonate, newborn
References
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4. Sathe M, Houwen R. Is meconium ileus associated with worse outcomes in cystic fibrosis? J Cyst Fibros. 2019;18(6):746. https://doi.org/10.1016/j.jcf.2019.10.003
5. Long AM, Jones IH, Knight M, McNally J, Saeed A, Lopes J, et al. Early management of meconium ileus in infants with cystic fibrosis: a prospective population cohort study. J Pediatr Surg. 2021;56(8):1287-92. https://doi.org/10.1016/j.jpedsurg.2021.02.047
6. Ley 1980/2019, 26 de julio, por medio de la cual se crea el Programa de Tamizaje Neonatal en Colombia [internet]. Diario Oficial 51.026. Disponible en: https://www.suin-juriscol.gov.co/viewDocument.asp?ruta=Leyes/30036695
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8. Meconium syndromes and cystic fibrosis. En: Oldham KT, Colombani PM, Foglia RP, Skinner MA, editores. Principles and practice of pediatric surgery. Philadelphia: Lippincott Williams & Wilkins; 2000.
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10. Amado González P. Tamizaje neonatal para fibrosis quística en una muestra de la ciudad de Bogotá [tesis de maestría en internet]. Bogotá: Colegio Mayor de Nuestra Señora del Rosario; 2011. Disponible en: http://repository.urosario.edu.co/handle/10336/3616
11. Sathe M, Houwen R. Meconium ileus in cystic fibrosis. J Cyst Fibros. 2017 Nov;16 Suppl 2:S32-9. https://doi.org/10.1016/j.jcf.2017.06.007
12. Kessels SJM, Carter D, Ellery B, Newton S, Merlin TL. Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review. Genet Med. 2020;22:258-67. https://doi.org/10.1038/s41436-019-0641-8.
13. Wood KE. Meconium ileus in a neonate with cystic fibrosis. N Engl J Med 2018;378:1142. https://doi.org/10.1056/NEJMicm1700400.
14. Rosselli D, Rueda JD, Ruiz-Patiño A. Análisis de costos de la tamización neonatal universal mediante espectrometría de masas en tándem para errores innatos del metabolismo en Colombia. Pediatría (Santiago). 2014 jul;47(3):68-73. https://doi.org/10.1016/S0120-4912(15)30138-5
15. Min Joyce Tan S, Coffey MJ, Ooi CY. Differences in clinical outcomes of paediatric cystic fibrosis patients with and without meconium ileus. J Cyst Fibros. 2019;18:857-62. https://doi.org/10.1016/j.jcf.2019.09.008
16. Padoan R, Cirilli N, Falchetti D, Cesana BM, Meconium Ileus Project Study Group. Risk factors for adverse outcome in infancy in meconium ileus cystic fibrosis infants: a multicentre Italian study. J Cyst Fibros. 2019;18(6):863-8. https://doi.org/10.1016/j.jcf.2019.07.003
17. Neocleous V, Yiallouros PK, Tanteles GA, Costi C, Moutafi M, Ioannou P, et al. Apparent homozygosity of p.Phe508del in CFTR due to a large gene deletion of exons 4-11. Case Rep Genet. 2014;2014:613863. https://doi.org/10.1155/2014/613863
18. Kulczycki LL, Kostuch M, Bellanti JA. A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations. Am J Med Genet A. 2003;116A(3):262-7. https://doi.org/10.1002/ajmg.a.10886
19. Doull I, Course CW, Hanks RE, Southern KW, Forton JT, Thia LP, et al. Cystic fibrosis newborn screening: the importance of bloodspot sample quality. Arch Dis Child. 2021 Mar 1;106(3):253-7. https://doi.org/10.1136/archdischild-2020-318999
2. Galante G, Freeman AJ. Gastrointestinal, pancreatic, and hepatic manifestations of cystic fibrosis in the newborn. Neoreviews. 2019;20(1):e12-24. https://doi.org/10.1542/neo.20-1-e12
3. Lahiri T, Sullivan JS, Sartorelli KH, Murphy JJ. Delayed presentation of meconium ileus in an infant with cystic fibrosis. Pediatrics. 2020 Oct 25;146(4):e20193717. https://doi.org/10.1542/peds.2019-3717
4. Sathe M, Houwen R. Is meconium ileus associated with worse outcomes in cystic fibrosis? J Cyst Fibros. 2019;18(6):746. https://doi.org/10.1016/j.jcf.2019.10.003
5. Long AM, Jones IH, Knight M, McNally J, Saeed A, Lopes J, et al. Early management of meconium ileus in infants with cystic fibrosis: a prospective population cohort study. J Pediatr Surg. 2021;56(8):1287-92. https://doi.org/10.1016/j.jpedsurg.2021.02.047
6. Ley 1980/2019, 26 de julio, por medio de la cual se crea el Programa de Tamizaje Neonatal en Colombia [internet]. Diario Oficial 51.026. Disponible en: https://www.suin-juriscol.gov.co/viewDocument.asp?ruta=Leyes/30036695
7. Soens M, Tsen LC. Fetal physiology. En: Chestnut’s obstetric anesthesia. 6.ª ed. Filadelfia: Elsevier; 2019. p. 77-95. Available from: https://www.elsevier.com/books/chestnuts-obstetric-anesthesia-principles-and-practice/chestnut/978-0-323-56688-9
8. Meconium syndromes and cystic fibrosis. En: Oldham KT, Colombani PM, Foglia RP, Skinner MA, editores. Principles and practice of pediatric surgery. Philadelphia: Lippincott Williams & Wilkins; 2000.
9. Holcomb GW, Murphy JP, St. Peter SD. Meconium disease. En: Holcomb G, Murphy JP, St Peter S, editores. Holcomb and Ashcraft’s pediatric surgery. 7.ª ed. Philadelphia: Elsevier; 2019. p. 517-35.
10. Amado González P. Tamizaje neonatal para fibrosis quística en una muestra de la ciudad de Bogotá [tesis de maestría en internet]. Bogotá: Colegio Mayor de Nuestra Señora del Rosario; 2011. Disponible en: http://repository.urosario.edu.co/handle/10336/3616
11. Sathe M, Houwen R. Meconium ileus in cystic fibrosis. J Cyst Fibros. 2017 Nov;16 Suppl 2:S32-9. https://doi.org/10.1016/j.jcf.2017.06.007
12. Kessels SJM, Carter D, Ellery B, Newton S, Merlin TL. Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review. Genet Med. 2020;22:258-67. https://doi.org/10.1038/s41436-019-0641-8.
13. Wood KE. Meconium ileus in a neonate with cystic fibrosis. N Engl J Med 2018;378:1142. https://doi.org/10.1056/NEJMicm1700400.
14. Rosselli D, Rueda JD, Ruiz-Patiño A. Análisis de costos de la tamización neonatal universal mediante espectrometría de masas en tándem para errores innatos del metabolismo en Colombia. Pediatría (Santiago). 2014 jul;47(3):68-73. https://doi.org/10.1016/S0120-4912(15)30138-5
15. Min Joyce Tan S, Coffey MJ, Ooi CY. Differences in clinical outcomes of paediatric cystic fibrosis patients with and without meconium ileus. J Cyst Fibros. 2019;18:857-62. https://doi.org/10.1016/j.jcf.2019.09.008
16. Padoan R, Cirilli N, Falchetti D, Cesana BM, Meconium Ileus Project Study Group. Risk factors for adverse outcome in infancy in meconium ileus cystic fibrosis infants: a multicentre Italian study. J Cyst Fibros. 2019;18(6):863-8. https://doi.org/10.1016/j.jcf.2019.07.003
17. Neocleous V, Yiallouros PK, Tanteles GA, Costi C, Moutafi M, Ioannou P, et al. Apparent homozygosity of p.Phe508del in CFTR due to a large gene deletion of exons 4-11. Case Rep Genet. 2014;2014:613863. https://doi.org/10.1155/2014/613863
18. Kulczycki LL, Kostuch M, Bellanti JA. A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations. Am J Med Genet A. 2003;116A(3):262-7. https://doi.org/10.1002/ajmg.a.10886
19. Doull I, Course CW, Hanks RE, Southern KW, Forton JT, Thia LP, et al. Cystic fibrosis newborn screening: the importance of bloodspot sample quality. Arch Dis Child. 2021 Mar 1;106(3):253-7. https://doi.org/10.1136/archdischild-2020-318999
How to Cite
Silva Valencia, M. J., Salamanca Gallo, E., Gallardo Arevalo, M. S., & García, M. I. (2023). Intraoperative Diagnosis of Meconium Ileus in a Neonatal with a Positive Screening for Cystic Fibrosis.: A Case Report. Universitas Medica, 64(1). https://doi.org/10.11144/Javeriana.umed64-1.ileo
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Case Reports
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