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Neurogenic bladder as a lurking complication in Moebius syndrome
Brain and Development ( IF 1.4 ) Pub Date : 2021-08-13 , DOI: 10.1016/j.braindev.2021.07.006
Yuichiro Tanaka 1 , Takanobu Maekawa 1 , Rumiko Eura 2 , Yuichi Hasegawa 3 , Mitsuru Kubota 1
Affiliation  

Moebius syndrome (MBS) is a congenital disorder characterized by facial and abducens palsy, sometimes accompanied with other cranial nerve palsies and comorbid conditions. Anatomical anomalies of the brainstem are assumed to be major etiologies of MBS. Its phenotypic presentation can be variable. We report a female patient with MBS who presented with neurogenic bladder (NB). She was born via normal vaginal delivery. At birth, she showed bilateral abducens palsy and right facial palsy. We diagnosed MBS by cranial computed tomography scan and magnetic resonance imaging. She had recurrent urinary tract infection. Hydronephrosis was noted on ultrasonography and bilateral vesicoureteral reflux (grade 5) on voiding cystourethrography. Urodynamic investigation showed detrusor overactivity and detrusor-sphincter dyssynergia, which follow the pattern of NB resulting from infrapontine-suprasacral lesions. Patients with MBS have lower brainstem dysfunction, and accordingly we should be aware of NB.



中文翻译:

神经源性膀胱是莫比乌斯综合征的潜在并发症

Moebius 综合征 (MBS) 是一种以面部和外展肌麻痹为特征的先天性疾病,有时伴有其他颅神经麻痹和合并症。脑干的解剖异常被认为是 MBS 的主要病因。它的表型表现可以是可变的。我们报告了一位患有 MBS 的女性患者,她出现了神经源性膀胱 (NB)。她是通过正常阴道分娩出生的。出生时,她表现出双侧外展肌麻痹和右侧面瘫。我们通过头颅计算机断层扫描和磁共振成像诊断出 MBS。她有反复的尿路感染。超声检查发现肾积水,排尿性膀胱尿道造影发现双侧膀胱输尿管反流(5 级)。尿动力学检查显示逼尿肌过度活动和逼尿肌-括约肌协同失调,遵循由桥下 - 骶上病变引起的 NB 模式。MBS患者脑干功能障碍较低,应注意NB。

更新日期:2021-08-13
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