Two Cases of VACTERL Association in Pregnancy with Lymphocyte Therapy

Authors: Seyed Mazyar Mortazavi, Masod Memari, Hasan Ali Ahmadi, Zhaleh Abed

Abstract:

VACTERL association is a rare disorder with various congenital malformations. The aetiology remains unknown. Combination of at least three congenital anomalies of the following criteria is required for diagnosis: vertebral defects, anal atresia, cardiac anomalies, tracheo-esophageal fistula, renal anomalies, and limb defects. The first case was 1-day old male neonate with multiple congenital anomalies was bore from 28 years old mother. The mother had history of pregnancy with lymphocyte therapy. His anomalies included: defects in thoracic and lumbar vertebral, anal atresia, bilateral hydronephrosis, atrial septal defect, and lower limb abnormality. Other anomalies were cryptorchidism and nasal canal narrowing. The second case was born with 32 weeks gestational age from mother with history of pregnancy with lymphocyte therapy. He had thoracic vertebral defect, cardiac anomalies and renal defect. diagnosis based on clinical finding is VACTERL association. Early diagnosis is very important to investigation and treatment of other coexistence anomalies. VACTERL association in mothers with history of pregnancy with lymphocyte therapy has suggested possibly of relationship between VACTERL association and this method of pregnancy.

Keywords: Anal atresia, tracheo-esophageal fistula, atrial septal defect, lymphocyte therapy.

Digital Object Identifier (DOI): doi.org/10.5281/zenodo.1099294

References:

[1] Richard J. Martin. Avray A. Fanaroff. Michele C. Walsh. Neonatal – perinatal medicine disease of fetus and infant. 9th ed. Vol. 2, Richard J, Ed. Mosby, 2011, p. 532.
[2] S.A. Temtamy, J.D. Miller. Extending the scope of the VATER association: definition of the VATER syndrome. J Pediatr, 85 (1974), pp. 345-349.
[3] Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics, 71 (1983), pp. 815–820.
[4] Rittler M, Paz JE, Castilla EE. VACTERL association, epidemiologic definition and delineation. Am J Med Genet, 63 (1996), pp. 529–536.
[5] MakatoKomura, Yutaka Kanamori, Masahiko Sugiyama, Tetsuya Tomonaga, Kan Suzuki, Kouhei Hashizume, and Keigo Goishi. A femaile Infant who had both complete VACTERL association and MURCS association: Report of a case. Surg Today (2007) 37:878-880.
[6] Kallen K, Mastroiacovo P, Castilla EE, Robert E, Kallen B. VATER non-random association of congenital malformations: study based on data from four malformation registers. Am J Med Genet, 101 (2001), pp. 26-32.
[7] Czeizel A, Ludanyi I. An aetiological study of the VACTERLassociation. Eur J Pediatr, 144 (1985), pp. 331-337
[8] Solomon BD. VACTERL/VATER Association. Orphanet J Rare Dis, 6 (2011), p. 56.
[9] Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C. Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A, 158A (2012), pp. 3087-3100.
[10] Serpil A, Birsen G, Isilay K, and Ahmet D.Is duane retraction syndrome part of the VACTERL association? Clinical Ophthalmology. 2013; 7, pp 581- 585.
[11] Endo M, Hayashi A, Ishihara M, Maie M, Nagasaki A, Nishi T, Saeki M. Analysis of 1,992 patients with anorectal malformations over the past two decades in Japan. Steering Committee of Japanese Study Group of Anorectal Anomalies.J Pediatr Surg, 34 (3) (1999), pp. 435–441.
[12] Javid PJ, Barnhart DC, Hirschl RB, Coran AG, Harmon CM. Immediate and long-term results of surgical management of low imperforate anus in girls. J Pediatr Surg, 33 (2) (1998), pp. 198–203.
[13] Pakarinen MP, Rintala RJ. Management and outcome of low anorectal malformations. Pediatr Surg Int, 26 (11) (2010), pp. 1057–1063.
[14] Shaw-Smith C. Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL Association: Review of genetics and epidemiology. J Med Genet. 2006;43, pp 545–54.
[15] Sarada D, Aparna G, Suma D, Muralidhar R, Krupadanam K, anasuya K.VACTERL association with less common cardiac and tracheal defects- A case report. International Journal of Research and Development of Health. April 2013;Vol 1(2).
[16] Charles Shaw-Smith. Genetic factors in esophageal atresia, tracheoesophageal fistula and the VACTERL association: Roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. Eur J Med Genet. Jan 2010; 53, pp 6–13.
[17] Padma S, Shanmuga P, Sonik B. A case of VACTERL and non- VACTERL association without the "V and L".Indian Journal of Nuclear Medicine.24- Jun- 2014.V 29, pp 46-49.
[18] Brown AK, Roddam AW, Spitz L, Ward SJ. Oesophageal atresia, related malformations, and medical problems: a family study. Am J Med Genet 1999, 85, pp 31-37.
[19] Solomon BD, Pineda-Alvarez DE, Raam MS, Cummings DA: Evidence for inheritance in patients with VACTERL association. Hum Genet 2010, 127, pp 731-733.
[20] Salati SA, Rabah SM. VACTERL association. Online J Health Allied Scs. 2010;9(2), p 15.
[21] Nadine Zwink, Ekkehart Jenetzky, Eberhard Schmiedeke, Dominik Schmidt, Stefan Marzheuser, Sabine Grasshoff Derr. Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study. Orphanet Journal of rare diseases 2012, 7:65.
[22] Chih-Ping Chen, Tung-Yao Chang, Yi-Yung Chen, Schu-Rern Chern, Jun-Wei Su, Wayseen. VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer. Taiwanese Journal of Obstetrics and Gynecology. Volume 52, issue 4, December 2013, Pages 575-579.
[23] A. Ericson and B. Kallen. Congenital malformations in infants born after IVF: a population-based study. Human Reproduction Vol.16, No.3 pp. 504–509, 2001.
[24] Greenland S. Ackerman DL. Clomiphene citrate and neural tube defects: a pooled analysis of controlled epidemiologic studies and recommendations for future studies. Fertil Steril. 1995 Nov;64(5):936- 41.