Two Cases Of Vacterl Association In Pregnancy With Lymphocyte Therapy

• Main Authors: Mortazavi, Seyed Mazyar, Masod Memari, Ahmadi, Hasan Ali, Zhaleh Abed
• Format: Text
• Language: English
• Published: Zenodo 2015
• Subjects: Anal atresia; tracheo-esophageal fistula; atrial septal defect; lymphocyte therapy.; Alvarez; Cordero; Cummings; Greenland; Indian; Kallen
• Online Access: https://dx.doi.org/10.5281/zenodo.1099293; https://zenodo.org/record/1099293

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. : {"references": ["Richard J. Martin. Avray A. Fanaroff. Michele C. Walsh. Neonatal \u2013\nperinatal medicine disease of fetus and infant. 9th ed. Vol. 2, Richard J,\nEd. Mosby, 2011, p. 532.", "S.A. Temtamy, J.D. Miller. Extending the scope of the VATER\nassociation: definition of the VATER syndrome. J Pediatr, 85 (1974),\npp. 345-349.", "Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. A\npopulation study of the VACTERL association: evidence for its etiologic\nheterogeneity. Pediatrics, 71 (1983), pp. 815\u2013820.", "Rittler M, Paz JE, Castilla EE. VACTERL association, epidemiologic\ndefinition and delineation. Am J Med Genet, 63 (1996), pp. 529\u2013536.", "MakatoKomura, Yutaka Kanamori, Masahiko Sugiyama, Tetsuya\nTomonaga, Kan Suzuki, Kouhei Hashizume, and Keigo Goishi. A\nfemaile Infant who had both complete VACTERL association and\nMURCS association: Report of a case. Surg Today (2007) 37:878-880.", "Kallen K, Mastroiacovo P, Castilla EE, Robert E, Kallen B. VATER\nnon-random association of congenital malformations: study based on\ndata from four malformation registers. Am J Med Genet, 101 (2001), pp.\n26-32.", "Czeizel A, Ludanyi I. An aetiological study of the VACTERLassociation.\nEur J Pediatr, 144 (1985), pp. 331-337", "Solomon BD. VACTERL/VATER Association. Orphanet J Rare Dis, 6\n(2011), p. 56.", "Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith\nC. Clinical geneticists' views of VACTERL/VATER association. Am J\nMed Genet A, 158A (2012), pp. 3087-3100.\n[10] Serpil A, Birsen G, Isilay K, and Ahmet D.Is duane retraction syndrome\npart of the VACTERL association? Clinical Ophthalmology. 2013; 7, pp\n581- 585.\n[11] Endo M, Hayashi A, Ishihara M, Maie M, Nagasaki A, Nishi T, Saeki\nM. Analysis of 1,992 patients with anorectal malformations over the past\ntwo decades in Japan. Steering Committee of Japanese Study Group of\nAnorectal Anomalies.J Pediatr Surg, 34 (3) (1999), pp. 435\u2013441.\n[12] Javid PJ, Barnhart DC, Hirschl RB, Coran AG, Harmon CM. Immediate\nand long-term results of surgical management of low imperforate anus in\ngirls. J Pediatr Surg, 33 (2) (1998), pp. 198\u2013203.\n[13] Pakarinen MP, Rintala RJ. Management and outcome of low anorectal\nmalformations. Pediatr Surg Int, 26 (11) (2010), pp. 1057\u20131063.\n[14] Shaw-Smith C. Oesophageal atresia, tracheo-oesophageal fistula, and\nthe VACTERL Association: Review of genetics and epidemiology. J\nMed Genet. 2006;43, pp 545\u201354.\n[15] Sarada D, Aparna G, Suma D, Muralidhar R, Krupadanam K, anasuya\nK.VACTERL association with less common cardiac and tracheal\ndefects- A case report. International Journal of Research and\nDevelopment of Health. April 2013;Vol 1(2).\n[16] Charles Shaw-Smith. Genetic factors in esophageal atresia, tracheoesophageal\nfistula and the VACTERL association: Roles for FOXF1 and\nthe 16q24.1 FOX transcription factor gene cluster, and review of the\nliterature. Eur J Med Genet. Jan 2010; 53, pp 6\u201313.\n[17] Padma S, Shanmuga P, Sonik B. A case of VACTERL and non-\nVACTERL association without the \"V and L\".Indian Journal of Nuclear\nMedicine.24- Jun- 2014.V 29, pp 46-49.\n[18] Brown AK, Roddam AW, Spitz L, Ward SJ. Oesophageal atresia,\nrelated malformations, and medical problems: a family study. Am J Med\nGenet 1999, 85, pp 31-37.\n[19] Solomon BD, Pineda-Alvarez DE, Raam MS, Cummings DA: Evidence\nfor inheritance in patients with VACTERL association. Hum Genet\n2010, 127, pp 731-733. [20] Salati SA, Rabah SM. VACTERL association. Online J Health Allied\nScs. 2010;9(2), p 15.\n[21] Nadine Zwink, Ekkehart Jenetzky, Eberhard Schmiedeke, Dominik\nSchmidt, Stefan Marzheuser, Sabine Grasshoff Derr. Assisted\nreproductive techniques and the risk of anorectal malformations: a\nGerman case-control study. Orphanet Journal of rare diseases 2012,\n7:65.\n[22] Chih-Ping Chen, Tung-Yao Chang, Yi-Yung Chen, Schu-Rern Chern,\nJun-Wei Su, Wayseen. VACTERL association with hydrocephalus in a\nfetus conceived by in vitro fertilization and embryo transfer. Taiwanese\nJournal of Obstetrics and Gynecology. Volume 52, issue 4, December\n2013, Pages 575-579.\n[23] A. Ericson and B. Kallen. Congenital malformations in infants born after\nIVF: a population-based study. Human Reproduction Vol.16, No.3 pp.\n504\u2013509, 2001.\n[24] Greenland S. Ackerman DL. Clomiphene citrate and neural tube defects:\na pooled analysis of controlled epidemiologic studies and\nrecommendations for future studies. Fertil Steril. 1995 Nov;64(5):936-\n41."]}