自发性蛛网膜下腔出血的帕克-韦伯综合征的罕见病例

IF 0.2 4区 医学 Q4 MEDICINE, GENERAL & INTERNAL
Jovan Ilic, Aleksandar Kostić, Vesna Nikolov, Marija Djordjević, M. Radisavljevic, Boban Jelenkovic, N. Stojanovic, Aleksandra Aracki-Trenkic
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引用次数: 0

摘要

介绍。帕克斯-韦伯综合征(PWS)是一种复杂而罕见的遗传性血管性畸形,主要发生在四肢,可累及骨盆血管。在极其罕见的病例中,疾病表现为颅内和脊柱受累,而这类患者的治疗对神经外科中心来说是一个挑战,需要多学科的方法。病例报告。我们报告一名46岁男性病患,因自发性蛛网膜下腔出血(SAH)、中度弛缓性截瘫及尿失禁而入院急诊科。此外,患者之前被诊断为PWS,而遗传评估证实了RASA1基因突变。26年前,他经历了自发性SAH,住院治疗,6年前,由于右肾动脉及其分支的多发门动脉瘤,他接受了右肾切除术。颅内数字减影血管造影未发现动脉瘤扩张或动静脉畸形(AVM)。磁共振成像显示脊髓硬膜内AVM位于T12和L3之间的椎体水平,完全填充硬膜囊。经保守治疗后,患者的神经系统及临床状况均有明显改善。结论。据我们所知,这是唯一一例有脊髓硬膜内AVM和自发性SAH的PWS患者,无高输出量心力衰竭,既往有肾切除术史。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Unusual case of parkes-weber syndrome in a patient with spontaneous subarachnoid hemorrhage
Introduction. Parkes-Weber syndrome (PWS) is a complex and rare genetic disease of combined vascular malformations that primarily occur in the extremities and can involve the pelvic blood vessels. In extremely rare cases, the disease is manifested by endocranial and spinal involvement, while the treatment of such patients represents a challenge for neurosurgical centers and requires multidisciplinary approach. Case report. We present the case of a 46-year-old male patient who was admitted to the emergency department due to spontaneous subarachnoid hemorrhage (SAH), moderate flaccid paraparesis and urinary incontinence. Furthermore, the patient was previously diagnosed with PWS, while the genetic evaluation proved the RASA1 gene mutation. He experienced a spontaneous SAH and was hospitalized 26 years ago, while 6 years ago he underwent a right nephrectomy due to multiple hilar aneurysms of the right renal artery and its branches. Digital subtraction angiography of the endocranium was performed, which detected no aneurysmal dilatations or arteriovenous malformations (AVM). The magnetic resonance imaging recorded spinal intradural AVM in the vertebral levels between T12 and L3, which completely filled the dural sac. After the conservative treatment, there was a significant improvement in the patient's neurological and clinical condition. Conclusion. To the best of our knowledge, this is the only case report of a patient with PWS who had a spinal intradural AVM and spontaneous SAH without high-output heart failure, with a history of a previous nephrectomy.
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来源期刊
Vojnosanitetski pregled
Vojnosanitetski pregled MEDICINE, GENERAL & INTERNAL-
CiteScore
0.50
自引率
0.00%
发文量
161
审稿时长
3-8 weeks
期刊介绍: Vojnosanitetski pregled (VSP) is a leading medical journal of physicians and pharmacists of the Serbian Army. The Journal is published monthly.
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