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Sirenomelia (Mermaid syndrome)
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Sirenomelia, também conhecida como síndrome de sereia, é uma malformação congénita rara do desenvolvimento fetal que se caracteriza pela fusão anómala das extremidades inferiores, assemelhando-se à aparência de uma cauda de sereia, associada a outras anomalias viscerais (geniturinárias, cardíacas, respiratórias, neurológicas ou gastrointestinais). Tem uma taxa de incidência de 0,8–4 por 60.000 a 100.000 gestações, pode ocorrer em qualquer grupo étnico e é mais frequente em homens, com uma proporção de 3:1. As etiologias exatas são desconhecidas, mas a diabetes mellitus materna, gemelaridade monozigótica, drogas teratogénicas, suscetibilidade genética, hipoperfusão vascular, cocaína e idade materna inferior a 20 anos ou superior a 40 anos, são fatores de risco conhecidos. O diagnóstico pode ser feito por ecografia pré-natal ou pela anatomia típica após o nascimento. É uma anomalia com mau prognóstico: mais de 50% dos casos são nados mortos e os restantes geralmente morrem um ou dois dias após o nascimento devido a complicações associadas às malformações viscerais, com sobrevida média inferior a 1 semana.
O Instituto de Anatomia da FMUL conserva várias peças anatómicas raras, algumas provenientes da antiga escola Médico-Cirúrgica de Lisboa, entre as quais uma extensa coleção de malformações fetais que possui dois casos de Sirenomelia.
Pretende-se com este trabalho rever a patologia, avaliar e descrever estes dois casos do ponto de vista anatómico macroscópico e também imagiológico (Tomografia Computorizada).
Sirenomelia, also known as mermaid syndrome, is a rare congenital malformation of fetal development characterized by abnormal fusion of the lower extremities, resembling the appearance of a mermaid tail, associated with other visceral anomalies (genitourinary, cardiac, respiratory, neurological or gastrointestinal). It has an incidence rate of 0.8–4 per 60,000 to 100,000 pregnancies, can occur in any ethnic group, and is more common in males, with a ratio of 3:1. The exact etiologies are unknown, but maternal diabetes mellitus, monozygotic twinning, teratogenic drugs, genetic susceptibility, vascular hypoperfusion, cocaine and maternal age younger than 20 or older than 40 years are known risk factors. Diagnosis can be made by prenatal ultrasound or by typical anatomy after birth. It is a malformation with poor prognosis: over 50% of cases are stillborn and the remaining generally die one or two days after birth due to complications associated with visceral malformations, with an average survival of less than 1 week. The Institute of Anatomy of FMUL preserves several rare anatomical specimens, some originating from the former Medical-Surgical School of Lisbon, including an extensive collection of fetal malformations that includes two cases of Sirenomelia. The aim of this work is to review the pathology, evaluate, and describe these two cases from both macroscopic anatomical and imaging (Computed Tomography) perspectives.
Sirenomelia, also known as mermaid syndrome, is a rare congenital malformation of fetal development characterized by abnormal fusion of the lower extremities, resembling the appearance of a mermaid tail, associated with other visceral anomalies (genitourinary, cardiac, respiratory, neurological or gastrointestinal). It has an incidence rate of 0.8–4 per 60,000 to 100,000 pregnancies, can occur in any ethnic group, and is more common in males, with a ratio of 3:1. The exact etiologies are unknown, but maternal diabetes mellitus, monozygotic twinning, teratogenic drugs, genetic susceptibility, vascular hypoperfusion, cocaine and maternal age younger than 20 or older than 40 years are known risk factors. Diagnosis can be made by prenatal ultrasound or by typical anatomy after birth. It is a malformation with poor prognosis: over 50% of cases are stillborn and the remaining generally die one or two days after birth due to complications associated with visceral malformations, with an average survival of less than 1 week. The Institute of Anatomy of FMUL preserves several rare anatomical specimens, some originating from the former Medical-Surgical School of Lisbon, including an extensive collection of fetal malformations that includes two cases of Sirenomelia. The aim of this work is to review the pathology, evaluate, and describe these two cases from both macroscopic anatomical and imaging (Computed Tomography) perspectives.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2024
Palavras-chave
Sirenomelia Mermaid syndrome Fusão dos membros inferiores Anomalia congénita