Introdution: Sacral agenesis is a rare congenital malformation caused by the inexistent of the lower vertebral segment. The incidence is of 1 case per 25.000 newborns, without difference between sexes. It mostly occurs with diabetic mothers. Prenatal diagnosis is not so precise, especially in the less severe forms, and the differentiation from a bifid spine is usually difficult. Case report: The case reported is about a pregnant women, at 23 weeks, referred to us for a more accurate ultrasound examination. The procedure showed a severe anomaly of the foetal spine, that could only be observed up to the lumbar-thorax regions, because of a partial agenesis of the lower tract. It was also observed an irregular structure and mobility of the lower limbs, therefore leading to the hypothesis of a big deficit of dorsal function and showing a "lemon shape" skull, which implied a bifid spine. After being submitted to a karyotype exam (46, XY), the patient decided on the interruption of the pregnancy. The autopsy confirmed the sacral agenesis diagnosis. The case was classified as a sacral agenesis type III. Conclusion: An early diagnosis of sacral agenesis is essential in preventing permanent damages to the involved organs, such as the urinary tract, and also to provide eventual timely treatments to improve the life quality of the newborn. The most severe forms associated with heart, kidney and gastro-enteric anomalies are often associated to deaths of the foetus in early pregnancies.

Sacral agenesis: Case report

GRANESE, ROBERTA;
2006

Abstract

Introdution: Sacral agenesis is a rare congenital malformation caused by the inexistent of the lower vertebral segment. The incidence is of 1 case per 25.000 newborns, without difference between sexes. It mostly occurs with diabetic mothers. Prenatal diagnosis is not so precise, especially in the less severe forms, and the differentiation from a bifid spine is usually difficult. Case report: The case reported is about a pregnant women, at 23 weeks, referred to us for a more accurate ultrasound examination. The procedure showed a severe anomaly of the foetal spine, that could only be observed up to the lumbar-thorax regions, because of a partial agenesis of the lower tract. It was also observed an irregular structure and mobility of the lower limbs, therefore leading to the hypothesis of a big deficit of dorsal function and showing a "lemon shape" skull, which implied a bifid spine. After being submitted to a karyotype exam (46, XY), the patient decided on the interruption of the pregnancy. The autopsy confirmed the sacral agenesis diagnosis. The case was classified as a sacral agenesis type III. Conclusion: An early diagnosis of sacral agenesis is essential in preventing permanent damages to the involved organs, such as the urinary tract, and also to provide eventual timely treatments to improve the life quality of the newborn. The most severe forms associated with heart, kidney and gastro-enteric anomalies are often associated to deaths of the foetus in early pregnancies.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11570/3030023
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