Two Cases of VACTERL Association in Pregnancy with Lymphocyte Therapy

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:
[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.