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

Jovan Ilić; Aleksandar  Kostić; Vesna Nikolov; Marija Djordjević; Miša Radisavljević; Boban Jelenković; Nikola Stojanović; Aleksandra Aracki-Trenkić

doi:10.2298/VSP230128027I

Jovan Ilić University Clinical Center Niš, Department of Neurosurgery, Niš, Serbia
Aleksandar Kostić University Clinical Center Niš, Department of Neurosurgery, Niš, Serbia; University of Niš, Faculty of Medicine, Niš, Serbia
Vesna Nikolov University Clinical Center Niš, Department of Neurosurgery, Niš, Serbia; University of Niš, Faculty of Medicine, Niš, Serbia
Marija Djordjević University of Niš, Faculty of Medicine, Niš, Serbia
Miša Radisavljević University Clinical Center Niš, Department of Neurosurgery, Niš, Serbia
Boban Jelenković University Clinical Center Niš, Department of Neurosurgery, Niš, Serbia
Nikola Stojanović University Clinical Center Niš, Department of Neurosurgery, Niš, Serbia
Aleksandra Aracki-Trenkić University Clinical Center Niš, Department of Radiology, Niš, Serbia

DOI: https://doi.org/10.2298/VSP230128027I

Keywords: arteriovenous malformations, congenital abnormalities, diagnosis, genes, magnetic resonance imaging, mutation, rasa1 protein, human, 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. The treatment of such patients represents a challenge for neurosurgical centers and requires a multidisciplinary approach. Case report. We present the case of a 46-year-old male patient admitted to the emergency department due to spontaneous subarachnoid hemorrhage (SAH), moderate flaccid paraparesis, and urinary incontinence. The patient was previously diagnosed with PWS, while the genetic evaluation proved the RASA1 gene mutation. Furthermore, he experienced a spontaneous SAH and was hospitalized 26 years ago, while six 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 and with a history of a previous nephrectomy.

Author Biographies

Jovan Ilić, University Clinical Center Niš, Department of Neurosurgery, Niš, Serbia

broj telefona

+381648839385

Aleksandar Kostić, University Clinical Center Niš, Department of Neurosurgery, Niš, Serbia; University of Niš, Faculty of Medicine, Niš, Serbia

broj telefona

+381/654738342

Vesna Nikolov, University Clinical Center Niš, Department of Neurosurgery, Niš, Serbia; University of Niš, Faculty of Medicine, Niš, Serbia

broj telefona

+381/65-30-94-135

Marija Djordjević, University of Niš, Faculty of Medicine, Niš, Serbia

broj telefona

+381607265165

Miša Radisavljević, University Clinical Center Niš, Department of Neurosurgery, Niš, Serbia

broj telefona

+38163/109-42-70

Boban Jelenković, University Clinical Center Niš, Department of Neurosurgery, Niš, Serbia

broj telefona

+381/69-60-65-45

Nikola Stojanović, University Clinical Center Niš, Department of Neurosurgery, Niš, Serbia

broj telefona

+381/60-065-77-76

Aleksandra Aracki-Trenkić, University Clinical Center Niš, Department of Radiology, Niš, Serbia

broj telefona

+381/63-109-59-70

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