Unusual case of Parkes-Weber syndrome in a patient with spontaneous subarachnoid hemorrhage

Abstract

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.