Bonnet–Dechaume–Blanc syndrome: Difference between revisions
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{{Short description|A rare congenital disorder affecting the eyes and brain}} | |||
'''Bonnet–Dechaume–Blanc syndrome''' (BDBS), also known as '''Wyburn-Mason syndrome''', is a rare congenital disorder characterized by arteriovenous malformations (AVMs) that primarily affect the [[retina]] and the [[brain]]. This condition is part of the [[phakomatoses]] group of disorders, which are neurocutaneous syndromes involving the [[central nervous system]] and the skin. | |||
File: | ==Presentation== | ||
File: | BDBS is typically identified by the presence of AVMs in the [[retina]] and the [[cerebral]] vasculature. These malformations can lead to a variety of symptoms depending on their size and location. | ||
File:Visual field homonymous hemianopia. | |||
File:Fluorescein angiography. | ===Ocular Manifestations=== | ||
[[File:406907P-PA-OCULAR.jpg|Ocular manifestations of BDBS|thumb|right]] | |||
The ocular manifestations of BDBS include retinal AVMs, which can be detected through [[ophthalmoscopy]] or [[fluorescein angiography]]. These AVMs may cause visual disturbances such as decreased [[visual acuity]], [[visual field]] defects, or even [[retinal detachment]]. | |||
===Neurological Manifestations=== | |||
[[File:Intracerebral_hemorrage_(CT_scan).jpg|Intracerebral hemorrhage in BDBS|thumb|left]] | |||
Neurologically, patients may present with symptoms due to cerebral AVMs, such as [[headaches]], [[seizures]], or [[intracerebral hemorrhage]]. The location of the AVMs in the brain can lead to specific neurological deficits, including [[hemiparesis]] or [[aphasia]]. | |||
===Visual Field Defects=== | |||
[[File:Visual_field_homonymous_hemianopia.png|Visual field defect in BDBS|thumb|right]] | |||
Patients with BDBS may experience visual field defects such as [[homonymous hemianopia]], which is a loss of half of the field of view on the same side in both eyes. This occurs due to the involvement of the visual pathways in the brain. | |||
==Pathophysiology== | |||
The exact cause of BDBS is not well understood, but it is believed to result from developmental anomalies in the embryonic vasculature. The AVMs are thought to arise from a failure of the normal regression of embryonic vascular connections, leading to direct arterial-to-venous shunts without intervening capillaries. | |||
==Diagnosis== | |||
Diagnosis of BDBS is primarily clinical, supported by imaging studies. [[Magnetic resonance imaging]] (MRI) and [[computed tomography]] (CT) scans can reveal cerebral AVMs, while [[fluorescein angiography]] is used to visualize retinal AVMs. | |||
[[File:Fluorescein_angiography.jpg|Fluorescein angiography showing retinal AVMs|thumb|left]] | |||
==Management== | |||
There is no cure for BDBS, and management is primarily symptomatic and supportive. Treatment options may include: | |||
* '''Laser photocoagulation''' or '''cryotherapy''' for retinal AVMs to prevent complications such as retinal detachment. | |||
* '''Surgical intervention''' or '''endovascular therapy''' for cerebral AVMs to reduce the risk of hemorrhage. | |||
* '''Anticonvulsants''' for seizure management. | |||
==Prognosis== | |||
The prognosis of BDBS varies depending on the severity and location of the AVMs. Early detection and management of complications can improve outcomes, but the condition can lead to significant morbidity due to visual and neurological impairments. | |||
==Related pages== | |||
* [[Arteriovenous malformation]] | |||
* [[Phakomatoses]] | |||
* [[Retinal detachment]] | |||
* [[Intracerebral hemorrhage]] | |||
[[Category:Congenital disorders]] | |||
[[Category:Rare diseases]] | |||
[[Category:Neurocutaneous conditions]] | |||
Revision as of 21:35, 4 March 2025
A rare congenital disorder affecting the eyes and brain
Bonnet–Dechaume–Blanc syndrome (BDBS), also known as Wyburn-Mason syndrome, is a rare congenital disorder characterized by arteriovenous malformations (AVMs) that primarily affect the retina and the brain. This condition is part of the phakomatoses group of disorders, which are neurocutaneous syndromes involving the central nervous system and the skin.
Presentation
BDBS is typically identified by the presence of AVMs in the retina and the cerebral vasculature. These malformations can lead to a variety of symptoms depending on their size and location.
Ocular Manifestations
The ocular manifestations of BDBS include retinal AVMs, which can be detected through ophthalmoscopy or fluorescein angiography. These AVMs may cause visual disturbances such as decreased visual acuity, visual field defects, or even retinal detachment.
Neurological Manifestations
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Neurologically, patients may present with symptoms due to cerebral AVMs, such as headaches, seizures, or intracerebral hemorrhage. The location of the AVMs in the brain can lead to specific neurological deficits, including hemiparesis or aphasia.
Visual Field Defects
Patients with BDBS may experience visual field defects such as homonymous hemianopia, which is a loss of half of the field of view on the same side in both eyes. This occurs due to the involvement of the visual pathways in the brain.
Pathophysiology
The exact cause of BDBS is not well understood, but it is believed to result from developmental anomalies in the embryonic vasculature. The AVMs are thought to arise from a failure of the normal regression of embryonic vascular connections, leading to direct arterial-to-venous shunts without intervening capillaries.
Diagnosis
Diagnosis of BDBS is primarily clinical, supported by imaging studies. Magnetic resonance imaging (MRI) and computed tomography (CT) scans can reveal cerebral AVMs, while fluorescein angiography is used to visualize retinal AVMs.
Management
There is no cure for BDBS, and management is primarily symptomatic and supportive. Treatment options may include:
- Laser photocoagulation or cryotherapy for retinal AVMs to prevent complications such as retinal detachment.
- Surgical intervention or endovascular therapy for cerebral AVMs to reduce the risk of hemorrhage.
- Anticonvulsants for seizure management.
Prognosis
The prognosis of BDBS varies depending on the severity and location of the AVMs. Early detection and management of complications can improve outcomes, but the condition can lead to significant morbidity due to visual and neurological impairments.
