Body Stalk syndrome: case report
DOI:
https://doi.org/10.37497/JMRReview.v1i1.14Keywords:
Body Stalk Syndrome, Case Report, Obstetrics, GynecologyAbstract
Background: Body Stalk Syndrome (BSS) is a rare condition with a reported frequency of one case in every 31,000 pregnancies, and is characterized by severe congenital malformations, mainly thoracoschisis, abdominoschisis, limb defects and exencephaly. Its exact etiology is unknown and no teratogenic factor has been described so far. Furthermore, reports of familial recurrence suggest the possibility of a genetic origin for the condition.
Aim: To report a case of SBS seen in our Service. Case report: This was a 23-year-old patient, with no comorbidities and a primigravida, who was referred to high-risk prenatal care due to a 2.5 mm nuchal translucency, observed by a morphological ultrasound (USG) performed with a gestational age (GA) of 11 weeks and 4 days. Two subsequent USGs showed signs suggestive of increasing SBS. The patient spontaneously went into labor with a GA of 33 weeks and 6 days. The fetus didn’t have any cardiac activity since it’s cefalicus disattachtment. After birth, multiple malformations were found confirming SBS. The mother received puerperal care and was discharged the following day.
Conclusion: SBS is a rare and lethal malformation, justifying case reports that contribute to continuing medical education in Gynecology and Obstetrics. As seen in the case reported here, USG is important in the hypothesis of early diagnosis of SBS, allowing the pregnant woman to choose whether or not to terminate her pregnancy. There is also evidence that fetal magnetic resonance imaging could provide bases for a prenatal diagnosis of the syndrome during the beginning of the second gestational semester, as well as the diagnostic capacity of USGs for fetuses with GA at 11 and 12 weeks.
References
ADELEKE, O.; GILL, F.; KRISHNAN, R. Rare Presentation of Limb–Body Wall Complex in a Neonate: Case Report and Review of Literature. AJP Reports, v. 12, n. 1, p. e108–e112, 14 jan. 2022. DOI: https://doi.org/10.1055/s-0042-1744215
BAMFORTH, J. S. Amniotic band sequence: Streeter’s hypothesis reexamined. American Journal of Medical Genetics, v. 44, n. 3, p. 280–287, 1 out. 1992. DOI: https://doi.org/10.1002/ajmg.1320440304
DASKALAKIS, G. et al. Body stalk anomaly at 10-14 weeks of gestation. Ultrasound in Obstetrics & Gynecology: The Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, v. 10, n. 6, p. 416–418, dez. 1997. DOI: https://doi.org/10.1046/j.1469-0705.1997.10060416.x
GAJZER, D. C. et al. Possible Genetic Origin of Limb-Body Wall Complex. Fetal and Pediatric Pathology, v. 34, n. 4, p. 257–270, 2015. DOI: https://doi.org/10.3109/15513815.2015.1055021
GAZOLLA, A. C. et al. Limb-body wall defect: experience of a reference service of fetal medicine from Southern Brazil. Birth Defects Research. Part A, Clinical and Molecular Teratology, v. 100, n. 10, p. 739–749, out. 2014. DOI: https://doi.org/10.1002/bdra.23266
HARTWIG, N. G. et al. Limb body wall malformation complex: an embryologic etiology? Human Pathology, v. 20, n. 11, p. 1071–1077, nov. 1989. DOI: https://doi.org/10.1016/0046-8177(89)90225-6
HIGUCHI, T. et al. Early second-trimester diagnosis of body stalk anomaly by fetal magnetic resonance imaging. Japanese Journal of Radiology, v. 31, n. 4, p. 289–292, abr. 2013. DOI: https://doi.org/10.1007/s11604-013-0182-z
KANAMORI, Y. et al. Long-term survival of a baby with body stalk anomaly: report of a case. Surgery Today, v. 37, n. 1, p. 30–33, 2007. DOI: https://doi.org/10.1007/s00595-006-3324-4
LUEHR, B.; LIPSETT, J.; QUINLIVAN, J. A. Limb-body wall complex: a case series. The Journal of Maternal-Fetal & Neonatal Medicine: The Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, v. 12, n. 2, p. 132–137, ago. 2002. DOI: https://doi.org/10.1080/jmf.12.2.132.137
MANN, L. et al. Prenatal assessment of anterior abdominal wall defects and their prognosis. Prenatal Diagnosis, v. 4, n. 6, p. 427–435, dez. 1984. DOI: https://doi.org/10.1002/pd.1970040606
MARTÍNEZ-FRÍAS, M. L. Clinical and epidemiological characteristics of infants with body wall complex with and without limb deficiency. American Journal of Medical Genetics, v. 73, n. 2, p. 170–175, 12 dez. 1997. DOI: https://doi.org/10.1002/(SICI)1096-8628(1997)73:2<170::AID-AJMG11>3.0.CO;2-R
MILLER, M. E.; HIGGINBOTTOM, M.; SMITH, D. W. Short umbilical cord: its origin and relevance. Pediatrics, v. 67, n. 5, p. 618–621, maio 1981. DOI: https://doi.org/10.1542/peds.67.5.618
MORROW, R. J. et al. Prenatal diagnosis and management of anterior abdominal wall defects in the west of Scotland. Prenatal Diagnosis, v. 13, n. 2, p. 111–115, fev. 1993. DOI: https://doi.org/10.1002/pd.1970130205
QUIJANO, F. E. et al. Body Stalk Anomaly in a 9-Week Pregnancy. Case Reports in Obstetrics and Gynecology, v. 2014, p. 357285, 2014. DOI: https://doi.org/10.1155/2014/357285
RUSSO, R. et al. Limb body wall complex: a critical review and a nosological proposal. American Journal of Medical Genetics, v. 47, n. 6, p. 893–900, 1 nov. 1993. DOI: https://doi.org/10.1002/ajmg.1320470617
TAKEUCHI, K. et al. Body stalk anomaly: prenatal diagnosis. International Journal of Gynaecology and Obstetrics: The Official Organ of the International Federation of Gynaecology and Obstetrics, v. 51, n. 1, p. 49–52, out. 1995. DOI: https://doi.org/10.1016/0020-7292(95)80008-Z
TSIRKA, A. et al. Prenatal diagnosis of body stalk anomaly in the first trimester of pregnancy. The Journal of Maternal-Fetal & Neonatal Medicine: The Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, v. 20, n. 2, p. 183–184, fev. 2007. DOI: https://doi.org/10.1080/14767050601135097
VAN ALLEN, M.; CURRY, C.; GALLAGHER, L. Limb body wall complex: I. Pathogenesis. American journal of medical genetics, v. 28, n. 3, nov. 1987. DOI: https://doi.org/10.1002/ajmg.1320280302
VISCARELLO, R. R. et al. Limb-body wall complex associated with cocaine abuse: further evidence of cocaine’s teratogenicity. Obstetrics and Gynecology, v. 80, n. 3 Pt 2, p. 523–526, set. 1992.
YANG, Y. et al. First trimester diagnosis of body stalk anomaly complicated by ectopia cordis. The Journal of International Medical Research, v. 48, n. 12, p. 300060520980210, dez. 2020. DOI: https://doi.org/10.1177/0300060520980210
Downloads
Published
How to Cite
Issue
Section
License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Autores que publicam nesta revista concordam com os seguintes termos:
O(s) autor(es) autoriza(m) a publicação do texto na da revista;
O(s) autor(es) garantem que a contribuição é original e inédita e que não está em processo de avaliação em outra(s) revista(s);
A revista não se responsabiliza pelas opiniões, idéias e conceitos emitidos nos textos, por serem de inteira responsabilidade de seu(s) autor(es);
É reservado aos editores o direito de proceder a ajustes textuais e de adequação às normas da publicação.
Autores mantém os direitos autorais e concedem à revista o direito de primeira publicação, com o trabalho simultaneamente licenciado sob a Licença Creative Commons Attribution que permite o compartilhamento do trabalho com reconhecimento da autoria e publicação inicial nesta revista.
Autores têm autorização para assumir contratos adicionais separadamente, para distribuição não-exclusiva da versão do trabalho publicada nesta revista (ex.: publicar em repositório institucional ou como capítulo de livro), com reconhecimento de autoria e publicação inicial nesta revista.
Autores têm permissão e são estimulados a publicar e distribuir seu trabalho online (ex.: em repositórios institucionais ou na sua página pessoal) a qualquer ponto antes ou durante o processo editorial, já que isso pode gerar alterações produtivas, bem como aumentar o impacto e a citação do trabalho publicado (Veja O Efeito do Acesso Livre) em http://opcit.eprints.org/oacitation-biblio.html
