Sirenomelia or “mermaid syndrome”: an extremely rare case in Indonesiasia

  • Qodri Santosa Department of Child Health, Universitas Jenderal Soedirman Medical School/Margono Soekarjo Hospital/Ananda Hospital, Purwokerto, Central Java
  • Setya Dian Kartika Department of Obstetrics & Gynecology, Universitas Jenderal Soedirman Medical School/Margono Soekarjo Hospital/Ananda Hospital, Purwokerto, Central Java
  • Irwan Nuryadin Ananda Hospital, Purwokerto, Central Java
  • Alfi Muntafiah Department of Biochemistry, Universitas Jenderal Soedirman Medical School, Purwokerto, Central Java https://orcid.org/0000-0002-1424-6111
Keywords: case report; congenital anomaly; lethal; lower limb fusion; mermaid syndrome; sirenomelia

Abstract

Sirenomelia, also known as mermaid syndrome, is a very rare lethal congenital disorder with multisystem malformations, characterized by fusion of the lower limbs. Here we report a preterm neonate with fusion of the lower limbs. The baby was born by cesarean section to a 27-year-old primigravida mother at 35 weeks and 3 days’ gestation. There was no maternal history of hypertension, heart disease, asthma, or diabetes mellitus. At birth, the infant did not cry, had weak tone, a heart rate (HR) of <60 beats per minute (BPM), an Apgar score of 1/2, and a birth weight of 2,300 grams. The infant had an imperforate anus and no urogenital openings or external genitalia. There was a small penis-like protrusion without an aperture, such as in cases of ambiguous genitalia. The two lower limbs were fused, with five toes on each foot. Despite neonatal resuscitation, the infant died within 75 minutes of birth. The child was diagnosed with sirenomelia. This case report aims to emphasize the importance of early prenatal diagnosis and education of the patient’s family.

Author Biographies

Qodri Santosa, Department of Child Health, Universitas Jenderal Soedirman Medical School/Margono Soekarjo Hospital/Ananda Hospital, Purwokerto, Central Java

 

 

 

Setya Dian Kartika, Department of Obstetrics & Gynecology, Universitas Jenderal Soedirman Medical School/Margono Soekarjo Hospital/Ananda Hospital, Purwokerto, Central Java

 

 

 

Irwan Nuryadin, Ananda Hospital, Purwokerto, Central Java

 

 

 

Alfi Muntafiah, Department of Biochemistry, Universitas Jenderal Soedirman Medical School, Purwokerto, Central Java

Department of Biochemistry

References

1. Sikandar R, Munim S. Sirenomelia, the mermaid syndrome: case report and a brief review of literature. J Pak Med Assoc. 2009;59: 721-3. PMID: 19813692.
2. Kanagagiri, Suryaprakash, Singh YT, Singh KS. Sirenomelia apus – a case report. J Med Sci Clin Res. 2017;5:24993-6. DOI: https://doi.org/10.18535/jmscr/v5i7.113.
3. Garrido-Allepuz C, Haro E, González-Lamuño D, Martínez-Frías ML, Bertocchini F, Ros MA. A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations. Dis Model Mech. 2011;4:289-99. DOI: 10.1242/dmm.007732.
4. Valenzano M, Paoletti R, Rossi A, Farinini D, Garlaschi G, Fulcheri E. Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories. Hum Reprod Update. 1999;5:82–6. DOI: https://doi.org/10.1093/humupd/5.1.82.
5. Reddy KR, Srinivas S, Kumar S, Reddy S, Prasad H, Irfan GM. Sirenomelia: a rare presentation. J Neonatal Surg. 2012;1:7.
6. Martinez-Frias ML, Garcia A, Bermejo E. Cyclopia and sirenomelia in a liveborn infant. J Med Genet. 1998;35:263–4. PMID: 26023366.
7. Pal S, Biswas R, Danda D, Chattopadhyay JC, Danda TK. Sirenomelia: mermaid syndrome. Int J Anat Res. 2014;2:689-91. DOI: https://doi.org/10.16965/ijar.2014.526.
8. Semba K, Yamamura K. Etiology of caudal regression syndrome. Human Genet Embryol. 2013;(3):107. DOI: https://doi.org/10.4172/2161-0436.1000107.
9. Al Hadhoud F, Kamal AH, Al Anjari A, Fe Diejomaoh M. Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report. Int Med Case Rep J. 2017;10:313–7. DOI: https://doi.org/10.2147/IMCRJ.S139067.
10. Sutopo M and Uli T. “The mermaid syndrome“ - kasus serial. Cermin Dunia Kedokteran. 2017; 44(5): 337-8. DOI: https://doi.org/10.55175/cdk.v44i5.799.
11. Arora G, Bagga GR, Nandu VV. A rare case of twin gestation with sirenomelia and a coexisting normal fetus. J South Asian Feder Obst Gynae. 2017;9:360-2. DOI: https://doi.org/10.5005/jp-journals-10006-1529.
12. Kumar Y, Gupta N, Hooda K, Sharma P, Sharma S, Kochar P, et al. Caudal regression syndrome: a case series of a rare congenital anomaly. Pol J Radiol. 2017;82:188-92. DOI: https://doi.org/10.12659/PJR.900971.
13. Contu R, Zoppi MA, Axiana C, Ibba RM, Monni G. First trimester diagnosis of sirenomelia by 2D and 3D ultrasound. Fetal Diagn Ther. 2009;26:41–4. DOI: https://doi.org/10.1159/000236359.
14. Lynch SA, Wright C. Sirenomelia, limb reduction defects, cardiovascular malformation, renal agenesis in an infant born to a diabetic mother. Clin Dysmorphol. 1997;6:75–80. PMID: 9018422
15. Stocker JT, Heifetz SA. Sirenomelia. A morphological study of 33 cases and review of the literature. Perspect Pediatr Pathol. 1987;10:7–50. PMID: 3588246.
16. Taori KB, Mitra K, Ghonga NP, Gandhi RO, Mammen T, Sahu J. Sirenomelia sequence (mermaid: report of three cases. Indian J Radiol Imaging. 2002;12:399-401.
17. Pinette MG, Hand M, Hunt RC, Blackstone J, Wax JR, Cartin A. Surviving sirenomelia. J Ultrasound Med. 2005;24:1555–9. DOI: https://doi.org/10.7863/jum.2005.24.11.1555.
Published
2023-03-06
How to Cite
1.
Santosa Q, Kartika S, Nuryadin I, Muntafiah A. Sirenomelia or “mermaid syndrome”: an extremely rare case in Indonesiasia. PI [Internet]. 6Mar.2023 [cited 24Apr.2024];63(1):45-0. Available from: https://www.paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2454
Section
Case Report
Received 2020-07-26
Accepted 2023-03-06
Published 2023-03-06