Sirenomelia or "Mermaid Syndrome" in a Twin Pregnancy: A Case Report

Siddiqui, Annie F; Anjankar, Vaibhav

doi:10.7759/cureus.34311

Cited by 2 publications

(1 citation statement)

References 10 publications

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“…The combined impact of these novel mutations may explain the persistence and severity of symptoms such as prolonged elevation in bilirubin levels. [21,22] A systematic approach to collecting and analyzing data across diverse cases is vital to discerning potential patterns and correlations, enabling more accurate prediction of disease trajectories, and informing therapeutic strategies. Leveraging in vitro expression systems or animal models to mirror these mutations can offer invaluable insights into their phenotypic manifestations.…”

Section: Discussionmentioning

confidence: 99%

Clinical characteristics and follow-up of a newborn with Dubin–Johnson Syndrome: A clinical case report

Zhang,

Zuo,

Gao

2024

Medicine

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Background: Dubin–Johnson syndrome (DJS) is a rare autosomal recessive liver disorder, characterized by conjugated hyperbilirubinemia. This case report investigates the clinical characteristics and longitudinal outcomes of a neonate diagnosed with DJS. Methods: A newborn presented with elevated bilirubin levels and abnormal liver enzyme readings. Comprehensive genetic evaluation was conducted, which included peripheral blood sample collection from the infant and both parents after obtaining informed consent and high-throughput trio exome sequencing was performed. The genetic analysis revealed 2 significant mutations in the ABCC2 gene on chromosome 10: the insertion mutation c.4237(exon30)_c.4238(exon30)ins CT, inherited from the father, and the missense mutation c.517(exon5)G > A, inherited from the mother. Both mutations were classified as pathogenic according to the ACMG 2015 guidelines, indicating a compound heterozygous inheritance pattern. The patient’s treatment regimen included phototherapy, which was initiated to address her jaundice upon admission. To support liver function and regulate gut activity, oral ursodeoxycholic acid (20 mg/kg/dose, twice a day) and probiotics were administered. Additionally, a postdischarge medication plan involving a low-dose regimen of phenobarbital (3.5 mg/kg/dose, twice a day) was implemented for 2 weeks. Results: During a 2-year follow-up after discharge, the infant’s bilirubin levels significantly decreased, and liver enzymes, including GGT, progressively normalized. Conclusion: This case report enhances the understanding of DJS in neonates by emphasizing the clinical ramifications of compound heterozygous mutations within the ABCC2 gene and documenting the evolution of the disease. The gradual normalization of liver function tests suggests potential compensatory mechanisms in response to the genetic abnormalities in neonates with DJS. The correlation between the patient’s genetic profile of compound heterozygosity and her milder clinical phenotype warrants attention, suggesting that this specific genetic configuration may be associated with less severe manifestations of the disease. The necessity for long-term follow-up is highlighted, recognizing that intercurrent stress conditions could influence the hepatic profile and potentially exacerbate symptoms. Such sustained observation is crucial to further delineate the genomic and clinical landscape of DJS, offering opportunities to refine prognostic and therapeutic approaches.

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Section: Discussionmentioning

confidence: 99%

Clinical characteristics and follow-up of a newborn with Dubin–Johnson Syndrome: A clinical case report

Zhang,

Zuo,

Gao

2024

Medicine

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Mermaid Syndrome: Navigating the Challenges of a Rare Congenital Disorder

Tanveer,

Abbas,

Obando Cabezas

et al. 2024

Cureus

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Sirenomelia, or mermaid syndrome, is a rare congenital disorder characterized by the fusion of lower limbs and often associated with multisystem organ dysfunction, resulting in poor survival beyond the neonatal period. We report a case of sirenomelia in a full-term infant born to a 28-year-old primigravida with no significant medical history, gestational diabetes, or teratogenic exposure. The antenatal period was complicated by oligohydramnios, though routine ultrasounds failed to detect the condition. The diagnosis of sirenomelia was only made after delivery by cesarean section, with a compatible-with-life appearance, pulse, grimace, activity, and respiration (APGAR) score. The infant was referred to the pediatric surgical department due to abdominal distension and fused lower limbs, with plans to manage these conditions if the infant survived long-term. During the three-day hospital stay, vomiting was noted, and a babygram confirmed Stocker and Heifetz type IV sirenomelia and distended large bowel. An exploratory laparotomy revealed gross gastrointestinal and genitourinary abnormalities. A sigmoid colostomy was performed to relieve obstruction. Unfortunately, the infant expired shortly after surgery. This case highlights the challenges of prenatal diagnosis and the limited understanding of surgical management in sirenomelia, particularly given the rarity of survival beyond the neonatal period.

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Sirenomelia or "Mermaid Syndrome" in a Twin Pregnancy: A Case Report

Cited by 2 publications

References 10 publications

Clinical characteristics and follow-up of a newborn with Dubin–Johnson Syndrome: A clinical case report

Clinical characteristics and follow-up of a newborn with Dubin–Johnson Syndrome: A clinical case report

Mermaid Syndrome: Navigating the Challenges of a Rare Congenital Disorder

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