Currarino syndrome - a pre and post natal diagnosis correlation: case report and literature review.

Autores da FMUP

• João De Almeida Lopes Da Fonseca

  Autor

Participantes de fora da FMUP

• Ferreira C
• Santos AP

Unidades de investigação

• Laboratório Associado RISE- Rede de Investigação em Saúde

  

  Investigador

  Fernando Carlos De Landér Schmitt

• Medicina da Comunidade, Informação e Decisão em Saúde

• RISE-Health

  

  Investigador

  Fernando Carlos De Landér Schmitt

Abstract

Currarino syndrome is an uncommon genetic disease, with autosomal dominant inheritance, that is characterized by sacrococcygeal bone defect, presacral mass and anorectal malformation. There are many cases only diagnosed in adulthood, but early diagnosis is important to avoid life-threatening complications and to reduce morbidity, but it requires a high suspicion index and a multidisciplinary approach. If it is an unknown disease in the family, prenatal diagnosis is rare but possible. We discuss a case report of Currarino syndrome with an early diagnosis through fetal magnetic resonance imaging, studied during pregnancy for prenatal diagnosis purposes which showed similar defects in fetus spine and in the asymptomatic mother. We emphasize the inclusion of this rare syndrome in the differential diagnosis of fetal neural tube defects and caudal regression syndrome. The recognition of at-risk subjects should lead to better planning of pregnancies and appropriate management of affected children at birth.

Keywords

• Currarino syndrome; Currarino triad; prenatal diagnosis