Sirenomelia in a preterm neonate: a rare and lethal congenital anomaly

A preterm neonate, born at 35 weeks of gestation with a birth weight of 2100 g and an Apgar score of 8/10, was delivered after an unmonitored pregnancy. Clinical examination revealed a single tapered appendage replacing the lower limbs, with absent musculature and soft tissue, highly suggestive of sirenomelia "mermaid syndrome". External genital organs were not identifiable. Complementary investigations demonstrated severe visceral malformations: renal ultrasound revealed bilateral renal agenesis, while echocardiography showed complex congenital heart anomalies. No craniofacial dysmorphism was noted. The infant initially presented with respiratory distress requiring CPAP support. At 12 hours of life, clinical deterioration occurred with temperature instability, feeding intolerance, and increasing oxygen requirements. Laboratory investigations showed a marked rise in C-reactive protein with progressive thrombocytopenia. Despite the initiation of broad-spectrum intravenous antibiotics, the clinical course rapidly worsened. The newborn developed refractory septic shock compounded by severe renal failure with hydro-electrolyte disturbances, leading to multiorgan dysfunction and death at 48 hours of life.

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Publication Details

Journal
Pan African Medical Journal
Published
2025-10-17
DOI
https://doi.org/10.11604/pamj.2025.52.77.49478
Primary Topic
Congenital gastrointestinal and neural anomalies
Type
article
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article

Sirenomelia in a preterm neonate: a rare and lethal congenital anomaly

Pan African Medical Journal
Congenital gastrointestinal and neural anomalies
article

Sirenomelia in a preterm neonate: a rare and lethal congenital anomaly

article en

Abstract

A preterm neonate, born at 35 weeks of gestation with a birth weight of 2100 g and an Apgar score of 8/10, was delivered after an unmonitored pregnancy. Clinical examination revealed a single tapered appendage replacing the lower limbs, with absent musculature and soft tissue, highly suggestive of sirenomelia "mermaid syndrome". External genital organs were not identifiable. Complementary investigations demonstrated severe visceral malformations: renal ultrasound revealed bilateral renal agenesis, while echocardiography showed complex congenital heart anomalies. No craniofacial dysmorphism was noted. The infant initially presented with respiratory distress requiring CPAP support. At 12 hours of life, clinical deterioration occurred with temperature instability, feeding intolerance, and increasing oxygen requirements. Laboratory investigations showed a marked rise in C-reactive protein with progressive thrombocytopenia. Despite the initiation of broad-spectrum intravenous antibiotics, the clinical course rapidly worsened. The newborn developed refractory septic shock compounded by severe renal failure with hydro-electrolyte disturbances, leading to multiorgan dysfunction and death at 48 hours of life.

Pan African Medical JournalVol. 52
Hôpital Ibn Sina-Rabat (MA), Ibn Sina Hospital (KW)
Good health and well-being
Openalex Percentile: Top 31%
Congenital gastrointestinal and neural anomalies
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