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Abstract：
BACKGROUND: Caudal regression syndrome is a rare complex congenital anomaly with reduced penetrance and phenotypic variability characterized by osseous defects of the caudal spine, lower limb anomalies, and accompanying genitourinary, gastrointestinal/anorectal, and cardiac system soft tissue defects. We report a rare presentation of type 1 caudal regression syndrome in a pregnant woman with preexisting diabetes, in which early recognition of severe fetal anomalies on routine antenatal ultrasound facilitated confirmation with fetal magnetic resonance imaging to characterize extent of disease and prognosticate fetal outcome.
METHODS: This case of type 1 caudal regression syndrome in the setting of maternal pregestational diabetes mellitus resulted in stillbirth. The mother was a 29-year-old Caucasian primigravida female with past medical history of poorly controlled type 2 diabetes managed with metformin prior to pregnancy, prompting admission for glucose management and initiation of insulin at 13 weeks. Baseline hemoglobin A1c was high at 8.0%. Fetal ultrasound at 22 weeks was notable for severe sacral agenesis, bilateral renal pelvis dilatation, single umbilical artery, and pulmonary hypoplasia. Fetal magnetic resonance imaging at 29 weeks showed absent lower two-thirds of the spine with corresponding spinal cord abnormality compatible with type 1 caudal regression syndrome. The mother delivered a male stillborn at 39 and 3/7 weeks. Minimally invasive postmortem magnetic resonance imaging and computed tomography autopsy were performed to confirm clinical findings when family declined conventional autopsy. Etiology of sacral agenesis was attributed to poorly controlled maternal diabetes early in gestation.
CONCLUSIONS: Maternal preexisting diabetes is a known risk factor for development of congenital malformations. This rare case of type 1 caudal regression syndrome in a mother with preexisting diabetes with elevated hemoglobin A1c highlights the importance of preconception glycemic control in diabetic women and the utility of fetal magnetic resonance imaging for confirmation of ultrasound findings to permit accurate prognostication. Additionally, minimally invasive postmortem magnetic resonance imaging and computed tomography autopsy can facilitate diagnostic confirmation of clinical findings in perinatal death due to complex congenital anomalies while limiting the emotional burden on bereaved family members who decline conventional autopsy.
METHODS: This case of type 1 caudal regression syndrome in the setting of maternal pregestational diabetes mellitus resulted in stillbirth. The mother was a 29-year-old Caucasian primigravida female with past medical history of poorly controlled type 2 diabetes managed with metformin prior to pregnancy, prompting admission for glucose management and initiation of insulin at 13 weeks. Baseline hemoglobin A1c was high at 8.0%. Fetal ultrasound at 22 weeks was notable for severe sacral agenesis, bilateral renal pelvis dilatation, single umbilical artery, and pulmonary hypoplasia. Fetal magnetic resonance imaging at 29 weeks showed absent lower two-thirds of the spine with corresponding spinal cord abnormality compatible with type 1 caudal regression syndrome. The mother delivered a male stillborn at 39 and 3/7 weeks. Minimally invasive postmortem magnetic resonance imaging and computed tomography autopsy were performed to confirm clinical findings when family declined conventional autopsy. Etiology of sacral agenesis was attributed to poorly controlled maternal diabetes early in gestation.
CONCLUSIONS: Maternal preexisting diabetes is a known risk factor for development of congenital malformations. This rare case of type 1 caudal regression syndrome in a mother with preexisting diabetes with elevated hemoglobin A1c highlights the importance of preconception glycemic control in diabetic women and the utility of fetal magnetic resonance imaging for confirmation of ultrasound findings to permit accurate prognostication. Additionally, minimally invasive postmortem magnetic resonance imaging and computed tomography autopsy can facilitate diagnostic confirmation of clinical findings in perinatal death due to complex congenital anomalies while limiting the emotional burden on bereaved family members who decline conventional autopsy.
摘要：
背景：尾回归综合征是一种罕见的复杂先天性异常，外显率和表型变异性降低，其特征是尾椎的骨缺损，下肢异常,以及伴随的泌尿生殖系统，胃肠/肛门直肠，心脏系统软组织缺损.我们报告了在患有糖尿病的孕妇中罕见的1型尾回归综合征的表现，在常规产前超声检查中早期识别严重的胎儿畸形有助于胎儿磁共振成像的确认，以表征疾病的程度并预测胎儿结局。
方法：此例孕前糖尿病孕妇发生1型尾管消退综合征导致死胎。母亲是一名29岁的白种人primigravida女性，既往有2型糖尿病控制不佳的病史，在怀孕前接受二甲双胍治疗，提示入院进行血糖管理，并在13周时开始胰岛素治疗。基线血红蛋白A1c为8.0%。22周时胎儿超声检查明显为严重的骶骨发育不全，双侧肾盂扩张，单脐动脉,肺发育不全.29周时的胎儿磁共振成像显示，没有三分之二的脊柱下部，相应的脊髓异常与1型尾回归综合征相符。母亲在39和3/7周时分娩了男性死产。当家庭拒绝常规尸检时，进行了微创死后磁共振成像和计算机断层扫描尸检以确认临床发现。骶骨发育不全的病因归因于妊娠早期母亲糖尿病控制不佳。
结论：孕妇先前存在的糖尿病是先天性畸形发展的已知危险因素。这种罕见的1型尾回归综合征的母亲患有糖尿病，血红蛋白A1c升高，强调了糖尿病妇女孕前血糖控制的重要性，以及胎儿磁共振成像用于确认超声检查结果以进行准确预测的实用性。此外,微创死后磁共振成像和计算机断层扫描尸检可以促进对复杂先天性异常导致围产期死亡的临床发现的诊断确认，同时限制了拒绝常规尸检的丧亲家庭成员的情绪负担。
方法：此例孕前糖尿病孕妇发生1型尾管消退综合征导致死胎。母亲是一名29岁的白种人primigravida女性，既往有2型糖尿病控制不佳的病史，在怀孕前接受二甲双胍治疗，提示入院进行血糖管理，并在13周时开始胰岛素治疗。基线血红蛋白A1c为8.0%。22周时胎儿超声检查明显为严重的骶骨发育不全，双侧肾盂扩张，单脐动脉,肺发育不全.29周时的胎儿磁共振成像显示，没有三分之二的脊柱下部，相应的脊髓异常与1型尾回归综合征相符。母亲在39和3/7周时分娩了男性死产。当家庭拒绝常规尸检时，进行了微创死后磁共振成像和计算机断层扫描尸检以确认临床发现。骶骨发育不全的病因归因于妊娠早期母亲糖尿病控制不佳。
结论：孕妇先前存在的糖尿病是先天性畸形发展的已知危险因素。这种罕见的1型尾回归综合征的母亲患有糖尿病，血红蛋白A1c升高，强调了糖尿病妇女孕前血糖控制的重要性，以及胎儿磁共振成像用于确认超声检查结果以进行准确预测的实用性。此外,微创死后磁共振成像和计算机断层扫描尸检可以促进对复杂先天性异常导致围产期死亡的临床发现的诊断确认，同时限制了拒绝常规尸检的丧亲家庭成员的情绪负担。
