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. The treatment...
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Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade
2023-01-01
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| Series: | Vojnosanitetski Pregled |
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| Online Access: | https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502300027I.pdf |
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| author | Ilić Jovan Kostić Aleksandar Nikolov Vesna Đorđević Marija Radisavljević Miša Jelenković Boban Stojanović Nikola Aracki-Trenkić Aleksandra |
| author_facet | Ilić Jovan Kostić Aleksandar Nikolov Vesna Đorđević Marija Radisavljević Miša Jelenković Boban Stojanović Nikola Aracki-Trenkić Aleksandra |
| author_sort | Ilić Jovan |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-ce79a66f104d48a7833cb44199de7fa4 |
| institution | DOAJ |
| issn | 0042-8450 2406-0720 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade |
| record_format | Article |
| series | Vojnosanitetski Pregled |
| spelling | doaj-art-ce79a66f104d48a7833cb44199de7fa42025-08-20T03:19:38ZengMinistry of Defence of the Republic of Serbia, University of Defence, BelgradeVojnosanitetski Pregled0042-84502406-07202023-01-01801194995410.2298/VSP230128027I0042-84502300027IUnusual case of Parkes-Weber syndrome in a patient with spontaneous subarachnoid hemorrhageIlić Jovan0https://orcid.org/0000-0003-0730-1060Kostić Aleksandar1Nikolov Vesna2https://orcid.org/0000-0003-1352-8704Đorđević Marija3Radisavljević Miša4https://orcid.org/0000-0003-0554-793XJelenković Boban5https://orcid.org/0000-0002-5134-0078Stojanović Nikola6https://orcid.org/0000-0002-0124-3501Aracki-Trenkić Aleksandra7https://orcid.org/0000-0001-5018-5566University Clinical Center Niš, Department of Neurosurgery, Niš, SerbiaUniversity Clinical Center Niš, Department of Neurosurgery, Niš, Serbia + University of Niš, Faculty of Medicine, Niš, SerbiaUniversity Clinical Center Niš, Department of Neurosurgery, Niš, Serbia + University of Niš, Faculty of Medicine, Niš, SerbiaUniversity of Niš, Faculty of Medicine, Niš, SerbiaUniversity Clinical Center Niš, Department of Neurosurgery, Niš, SerbiaUniversity Clinical Center Niš, Department of Neurosurgery, Niš, SerbiaUniversity Clinical Center Niš, Department of Neurosurgery, Niš, SerbiaUniversity Clinical Center Niš, Department of Radiology, Niš, SerbiaIntroduction. 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.https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502300027I.pdfarteriovenous malformationscongenital abnormalitiesdiagnosisgenesmagnetic resonance imagingmutationrasa1 protein, humansubarachnoid hemorrhage |
| spellingShingle | Ilić Jovan Kostić Aleksandar Nikolov Vesna Đorđević Marija Radisavljević Miša Jelenković Boban Stojanović Nikola Aracki-Trenkić Aleksandra Unusual case of Parkes-Weber syndrome in a patient with spontaneous subarachnoid hemorrhage Vojnosanitetski Pregled arteriovenous malformations congenital abnormalities diagnosis genes magnetic resonance imaging mutation rasa1 protein, human subarachnoid hemorrhage |
| title | Unusual case of Parkes-Weber syndrome in a patient with spontaneous subarachnoid hemorrhage |
| title_full | Unusual case of Parkes-Weber syndrome in a patient with spontaneous subarachnoid hemorrhage |
| title_fullStr | Unusual case of Parkes-Weber syndrome in a patient with spontaneous subarachnoid hemorrhage |
| title_full_unstemmed | Unusual case of Parkes-Weber syndrome in a patient with spontaneous subarachnoid hemorrhage |
| title_short | Unusual case of Parkes-Weber syndrome in a patient with spontaneous subarachnoid hemorrhage |
| title_sort | unusual case of parkes weber syndrome in a patient with spontaneous subarachnoid hemorrhage |
| topic | arteriovenous malformations congenital abnormalities diagnosis genes magnetic resonance imaging mutation rasa1 protein, human subarachnoid hemorrhage |
| url | https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502300027I.pdf |
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