Mermaid Syndrome- A Case Report
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1 Mermaid Syndrome- A Case Report Poster No.: R-0214 Congress: RANZCR-AOCR 2012 Type: Educational Exhibit Authors: M. H. Mostofa Kamal, S. Al-Azad, S. Amin, A. S. M. Shahidul Hossain, M. Ali Kabir; Dhaka/BD Keywords: Echocardiography, CT, Conventional radiography, Musculoskeletal soft tissue, Extremities, Barium enema, Congenital DOI: /ranzcraocr2012/R-0214 Any information contained in this pdf file is automatically generated from digital material submitted to EPOS by third parties in the form of scientific presentations. References to any names, marks, products, or services of third parties or hypertext links to thirdparty sites or information are provided solely as a convenience to you and do not in any way constitute or imply RANZCR's endorsement, sponsorship or recommendation of the third party, information, product or service. RANZCR is not responsible for the content of these pages and does not make any representations regarding the content or accuracy of material in this file. As per copyright regulations, any unauthorised use of the material or parts thereof as well as commercial reproduction or multiple distribution by any traditional or electronically based reproduction/publication method ist strictly prohibited. You agree to defend, indemnify, and hold RANZCR harmless from and against any and all claims, damages, costs, and expenses, including attorneys' fees, arising from or related to your use of these pages. Please note: Links to movies,.ppt slideshows,.doc documents and any other multimedia files are not available in the pdf version of presentations. Page 1 of 14
2 Learning Objectives To understand the etio-pathogenesis, radio-diagnosis and characterstics of Mermaid syndrome. Background Mermaid syndrome alternatively known as Sirenomelia is a very rare congenital anomaly in which the legs are fused together giving the appearance of a mermaid's tail with an incidence of 0.8 to 1 case per births. Male to female ratio is 3:1. 15% of patients with sireniomelia have associated twinning, which is most often monozygotic. Most of these newborns were still born or died immediately after birth. Death is usually due to renal agenesis, which is incompatible with life. We describe a neonate of 28 days of a diabetic mother with clinical features of mermaid syndrome having malrotated single kidney. The first medical description of Sirenomelia was by Rocheus and Polfyr Way back in the th 16 century. Duhamel in 1961 defined all the anomalies of mermaid syndrome described it as the most severe form of caudal regression syndrome. Severe malformations of gastrointestinal, genitourinary, cardiovascular and musculoskeletal systems are usually present. The etiology and pathogenesis of this malformation is unknown. But there are some postulations and theory behind this. The vascular steal theory indicates that a single large artery assumes the function of the umbilical arteries, thus diverting blood flow from the caudal portion of the embryo to the placenta. Bohring et al. postulate that the spectrum of the congenital malformation observed in caudal regression syndrome represents abnormalities in blastogenesis and is due to disturbance of primary embryonic field. There is no known serum marker that may be used for antenatal diagnosis of sirenomalia. Strong association between this syndrome and maternal diabetes exist; up to 22% of fetuses with this anomaly are known to have diabetic mothers. In the setting of oligohydramnios and bilateral renal agenesis, the observation of lower fetal extremity fusion is the key to the antenatal diagnosis of mermaid syndrome. Imaging Findings OR Procedure Details Page 2 of 14
3 The neonate had fused lower limbs from the hip downwards and two feet were seen with 10 toes; external genitalia were absent (Fig. 1, Fig. 2, Fig. 3 and Fig. 4 ). Babygram and 3D reconstructed CT image revealed 12 pair of ribs with normal lungs, sacral dysgenesis and absence of both fibula (Fig. 5, Fig. 6 and Fig. 10). Ultrasound abdomen and pelvis revealed malrotated solitary kidney in right paraspinal region. 2D Echocardiocardiography revealed single atrium, small ventricular septal defect and pulmonary stenosis (Fig. 7). A small external orifice was seen in the gluteal region from which urine and fecal matters were being passed. Iodinated contrast was intriduced through this orifice which revealed a fistulas communication between the rectum and urinary bladder (Fig. 8). MDCT of abdomen revealed hypoplastic terminal branches of abdominal aorta & malrotated solitary normal excreting kidney (Fig. 9 and Fig. 11). Images for this section: Page 3 of 14
4 Fig. 5: Chest Radiograph showing normal lung fields with twelve pair ribs. Page 4 of 14
5 Page 5 of 14
6 Fig. 6: X-ray of lower limbs showing absence of fibula with fused soft tissue of both lower limbs. Fig. 7: 2D Echocardiography shows single atrium, small VSD and pulmonary stenosis. Page 6 of 14
7 Fig. 8: Contrast enema examination demonestrates a fistulas communication between the rectum and urinary bladder. Page 7 of 14
8 Page 8 of 14
9 Fig. 9: 3D reconstructed MDCT angiogram demonestrates hypoplastic terminal brances of abdominal aorta. Page 9 of 14
10 Page 10 of 14
11 Fig. 10: Reconstracted 3D CT image shows sacral dysgenesis and absent fibula. Fig. 11: MDCT of abdomen reveals malrotated right sided solitary normal excreting kidney. Page 11 of 14
12 Conclusion Mermaid syndrome is a lethal condition, early antenatal diagnosis is important in order to allow pre-natal councelling for pregnancy termination. Survival of childern with mermaid syndrome depends on the the associated visceral anomalies, especially renal function. Initial treatment of these newborns includes supportive care and diverting colostomy, later management of these infants includes a multodisciplinary surgical approach involving various specialities. Personal Information Dr. Mahmud Hasan Mostofa Kamal Assistant Professor Department of Radiology & Imaging Bangabandhu Sheikh Mujib Medical University Dhaka, Bangladesh. Professor Salahuddin Al-Azad Chairman Department of Radiology & Imaging Bangabandhu Sheikh Mujib Medical University Dhaka, Bangladesh. Dr. Md. Sadrul Amin Associate Professor Department of Radiology & Imaging Bangabandhu Sheikh Mujib Medical University Dhaka, Bangladesh. Page 12 of 14
13 Dr. A S M Shahidul Hossain Medical Officer Department of Radiology & Imaging Bangabandhu Sheikh Mujib Medical University Dhaka, Bangladesh. Dr. Mohammad Ali Kabir Medical Officer Department of Radiology & Imaging Bangabandhu Sheikh Mujib Medical University Dhaka, Bangladesh. References Martinez-frios ML, Garica A, Bermejo E. Cyclopia and sirenomelia in liver infant. J Med Genet 1998; 35: Carbillon L, seince N, Largilliere C, Bucourt M, Uzan M. First -trimester diagnosis of sirenomelia A case report. Fetal Diagn Ther 2001; 16: Duhamel B. From the Mermaid to Anal Imperforation: The Syndrome of Caudal Regression. Arch Dis Child 1961; 36: Messineo A, Innocenti M, Gelli, R, Pancani, S, Lo Piccolo, R. Martin A. Multidisciplinary surgical approach to a surviving infant with sirenomelia. Pediatrics 2006; 118; e Stevenson RE, Jones KL, Phelan MC, Barr M Jr, Clericuzio C, et al.. Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues. Pediatrics 1986; 78: Daveri tomha F, Googola M, Rovech M, Sirenomelia in an infant of a diabetic mother. Acta Medica Iranica 2003; 41: Stocker Jt, Heifetz SA. Sirenomelia A morphological study of 33 cases and review of the literature. Perspect Pediatr Pathol 1987; 10: Di Lorenzo M, Brandt ML, Veilleux A. Sirenomelia in an identical twin: a cast report. J Pediatr Surg 1991; 26: Page 13 of 14
14 9. Twickler D, Budorick N, Pretorius D, Grafe, M, Currarino G. Caudal regression versus sirenomelia: sonigraoguc clues. J Ultrasound Med 1993; 12: Bohring A, Lewin OS, Reynolds FJ, et al. Polytopic anomalies with agenesis of the lower vertebral column. Am J Med Genet 1999; 87: Adra A, Cordero D, Mejides A, Yasin S, Salman F, O'Sullivan MJ. Caudal regression syndrome: etiopathogenesis, prenatal diagnosis and perinatal management. Obstet Gynecol Surv 1994; 49: Sirtori M, Ghidini A, Romero R, Obbins JC. Prenatal diagnosis of sirenomelia J Ultrasound Med 1989; 8: Page 14 of 14
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