Barreto Mota Ricardo, Rodrigues Santos Nuno, Martins Rui, Soares Henrique
Neonatology, Centro Hospitalar Universitário de São João, Porto, PRT.
Pediatric Orthopedics, Centro Hospitalar Universitário de São João, Porto, PRT.
Cureus. 2022 Jan 28;14(1):e21684. doi: 10.7759/cureus.21684. eCollection 2022 Jan.
Fetal akinesia associated with fixed joints is a common cause for suspicion of arthrogryposis multiplex congenita, a severe condition with heterogeneous etiology. We present the case of a rarer but more benign condition, congenital knee dislocation. The authors report the case of a 27-year-old woman medicated with levetiracetam for epilepsy whose prenatal ultrasound at 22 weeks of gestational age revealed bilateral clubfoot, permanent extension of the inferior limbs with internal knee rotation, normal amniotic fluid quantity, and fetal echocardiography. The remaining ultrasounds revealed similar results. Prenatal genetic testing revealed no pathological findings. The pregnancy was otherwise uneventful. A female newborn was delivered at 39 weeks by cesarean section, with no need for resuscitation. She presented with bilateral knee hyperextension and clubfoot, spontaneous movements, and normal mobility in all other joints. The remaining physical examination and brain and hip ultrasound on the second day of life were normal. These findings were compatible with idiopathic congenital dislocation of the knee (CDK). The patient was undergoing treatment with favorable evolution and adequate neurodevelopment, at the time of this report. This case describes a diagnostic workup with the exclusion of severe syndromic pathologies, namely arthrogryposis. Despite the initial suspicion of arthrogryposis, a condition with a poor prognosis, this infant presented a more benign disease with favorable evolution.
与固定关节相关的胎儿运动不能是怀疑先天性多发性关节挛缩症的常见原因,这是一种病因多样的严重病症。我们报告一例较为罕见但更为良性的病症,即先天性膝关节脱位。作者报告了一例27岁患有癫痫且服用左乙拉西坦的女性病例,其在孕22周时的产前超声检查显示双侧马蹄内翻足、下肢永久性伸展伴膝关节内旋、羊水数量正常以及胎儿超声心动图检查正常。后续超声检查结果相似。产前基因检测未发现病理结果。孕期其他方面均正常。一名女婴于39周时剖宫产娩出,无需复苏。她表现为双侧膝关节过度伸展和马蹄内翻足,有自主运动,其他所有关节活动正常。出生第二天的其余体格检查以及脑部和髋部超声检查均正常。这些发现符合特发性先天性膝关节脱位(CDK)。在本报告撰写之时,该患者正在接受治疗,病情进展良好,神经发育正常。 本病例描述了一个排除严重综合征性疾病(即关节挛缩症)的诊断检查过程。尽管最初怀疑是关节挛缩症,这是一种预后不良的病症,但该婴儿表现出一种更为良性的疾病,病情进展良好。