|Year : 2021 | Volume
| Issue : 2 | Page : 140-142
First case of sirenomelia Type III in Ukraine
Andriy Pereyaslov, Olesya Nykyforuk
Department of Pediatric Surgery, Danylo Halytsky Lviv National Medical University, Lviv, Ukraine
|Date of Submission||27-Jul-2020|
|Date of Decision||13-Jan-2021|
|Date of Acceptance||14-Jan-2021|
|Date of Web Publication||15-May-2021|
Fedkovicha Str., 26/7, 79018 Lviv
Source of Support: None, Conflict of Interest: None
Sirenomelia in monochorionic diamniotic twins is extremely rare pathology. According to the literature data, there are only 24 cases, in which one or both fetuses had sirenomelia. The incidence rate of sirenomelia ranged from 1.1 to 4.2/60,000–100,000 deliveries and associated with the high lethality during early perinatal period. Here, we present a monochorionic diamniotic twin pregnancy, where one fetus was diagnosed with sirenomelia associated with agenesia of one kidney and bladder, and the co-twin was absolutely healthy.
Keywords: Monochorionic diamniotic twins, multiple congenital malformations, Sirenomelia
|How to cite this article:|
Pereyaslov A, Nykyforuk O. First case of sirenomelia Type III in Ukraine. J Clin Neonatol 2021;10:140-2
| Introduction|| |
Sirenomelia, also known as mermaid syndrome, is a very rare congenital malformation, which characterized by complete or partially fused lower extremities, with the incidence rate ranged from 1.1 to 4.2/60,000–100,000 deliveries., There are near 300 cases of sirenomelia is known for today.,, Sirenomelia is a lethal condition in the perinatal period, except for very rare instances, that hampering any intent of treatment. More often sirenomelia revealed in South America, Mexico, France, and Italy.
Due to the rarity of this malformation, we represented the first case of sirenomelia in one of twins in Ukraine.
| Case Report|| |
A 25-year-old gravida in her first pregnancy admitted the Lviv Medical Genetics Center at 18–19-week gestation in order to predict the offspring due to the results of biochemical tests (alpha-fetoprotein [AFP] – 4.9 multiples of the median [MOM], chorionic gonadotropin – 7.2 MOM, and free E3 – 0.73 MOM).
Prenatal ultrasonography performed at the second and third trimester of pregnancy: monochorionic diamniotic twins. First fetus had a normal growth and biophysical profile; second fetus – with multiple congenital malformations: fused lower extremities with the presence of only tibiae and absence of both fibulae, and the specific arrangement of feet like sirenomelia [Figure 1]; the single kidney with the multiple cysts, absent bladder; external genitalia not visualized; hypoplastic thorax; and severe oligohydramnios. It was discordant development of monochorionic twins – discordant growth (47%).
Vaginal delivery was at terms 36–37 weeks of gestation. The first healthy male baby had a length 46 cm, weight – 2400 g, and Apgar score – 7/8 at 1 and 5 min.
|Figure 1: Prenatal sonography. Two tibias (white arrows) and specific arrangement of feet's (red arrows)|
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The second baby had a weight of 1940 g, a length 46 cm, and Apgar score 3/4 (at 1 and 5 min). Immediately after birth, the baby was transferred to Lviv Regional Children's Clinical Hospital “OXMATDYT”. At the first examination, the head, face, and neck were without pathology. The auscultation of heart and lung: Heart tones are muted; breathing at the left side is weakened. The abdomen is soft, without distention, and meconium was not passed. Lower extremities throughout fused, with the presence of two femurs and two tibias; external genitalia absent [Figure 2].
Ultrasonography showed that liver, gallbladder, pancreas, and spleen were normal. The single (possible left) hypoplastic (size 3.8 cm × 2.0 cm) kidney with hydrocaliectasis (up to 8 mm) and pyelectasis (up to 10 mm) was visualized at pelvis [Figure 3]a. Bladder was not visualized. At the right inguinal region and in the projection of the left buttock two “ovoid structures” each size 1.0 cm × 0.8 cm, that had similar structure of testis, were visualized [Figure 3]b.
|Figure 3: Ultrasonography. (a) Left (?) kidney with pyelectasis (arrows); (b) testis (?|
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The neonate was fed intravenously during life with the minimal volumes of fluid due to the presence of congenital renourinary anomalies and signs of renal insufficiency. There was no urine passed all time of life. With increasing signs of renal and respiratory failure, baby died at 9 days after birth.
On autopsy was revealed: thorax hypoplasia, cystic lung hypoplasia, agenesia of the right kidney and cystic dysplasia of the left kidney, bladder agenesia, agenesia of external genitalia, absence of both fibulae and hypoplastic type of intrauterine growth retardation.
| Discussion|| |
Sirenomelia in twins extremely is rare pathology. According to the literature date, there are 24 cases, in which one or both fetuses had sirenomelia. Among these cases, there are only 11 cases of sirenomelia in monochorionic diamniotic twins.
Several classifications have been described, being the most extended that proposed by Stocker and Heifetz, based on the number of fused bones, ranging from Type I, in which all bones are present to Type VII, in which only a common long bone is remaining. Our case can classify as Type III – presence of both femurs and tibiae with the absence of both fibulae.
Sirenomelia can be diagnosed by the prenatal abdominal or transvaginal ultrasonography., The most striking sonographic finding was the detection of malformed lower limbs, which appeared to be fused and in an atypical position. In our case, we revealed fused lower limbs, absence of both fibulae, and specific feet's arrangement. In our case, sirenomelia was established at the second trimester of pregnancy, despite severe oligohydramnios that can challenge the correct diagnosis.
Such in our case, the expectant management is suggested in twin pregnancies, despite there being a potential risk of preterm delivery or harm to the healthy co-twin in cases of intrauterine death of the affected twin, especially in monochorionic twins. Our case was managed conservatively, and both fetuses were successfully delivered by vaginal delivery at 36–37 weeks of gestation.
In most cases, the prognosis and the life expectancy of a baby born with sirenomelia determined by the presence of concomitant birth defects. Malformations that are commonly seen with the sirenomelia include: anorectal, renal (agenesia/dysplasia), cardiac, and others.,, In our case, the presence of cystic dysplasia of the single kidney that associated with bladder agenesia determined the development of renal failure and death.
The survival rate of sirenomelia is very low. Only about 1% of newborns survive the 1st week of life, such as in our case. Among twins, fetus with sirenomelia was stillborn or died from multiple congenital anomalies during 1st h after birth, while normal anatomy fetus had a high alive rate in previously reported cases and our case.
The cost of treatment in live-born sirenomelia is huge due to renal transplantation, life support, and other repeated surgeries. Due to that, pregnant should be informed about the management and prognosis of sirenomelia. We do not support the selective termination of a sirenomelia twin that connected with high-risk premature birth of another twin.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]