Syndrome

BASICS


DESCRIPTION


• Also known as Bonnet–Dechaume–Blanc syndrome, congenital retinocephalic vascular malformation syndrome, or racemose hemangiomatosis


• Congenital, neurocutaneous condition usually characterized by unilateral CNS, ocular, and skin arteriovenous malformations (AVMs)


EPIDEMIOLOGY


Incidence


Rare


Prevalence


Unknown


RISK FACTORS


None


Genetics


Sporadic, no known locus


PATHOPHYSIOLOGY


• AVMs are abnormal vessel communications between arteries and veins.


• It may involve capillaries, arterioles, venules, arteries, or veins and are a result of defective vascular development.


DIAGNOSIS


HISTORY


• Can be asymptomatic


• Ophthalmologic symptoms


– Impaired vision


– Eye discomfort


– Double vision


– Conjunctival injection


– Decreased visual field


– Involuntary eye movements


• CNS symptoms


– Mental status changes


– Headache


– Emesis


– Seizures


– Weakness


• Dermatologic symptoms


– Birthmark


• Other symptoms


– Epistaxis


– Oral bleeding, for example, during dental extraction


PHYSICAL EXAM


• Ophthalmologic findings


– Decreased visual acuity


– May have afferent papillary defect


– Elevated intraocular pressure (IOP)


– Dilated conjunctival vessels


– Arteriovenous communications are divided into three groups:


– Group 1: Interposition of an abnormal capillary plexus between major vessels


– Group 2: Direct arteriovenous communication without interposition of capillaries


– Group 3: More extensive arteriovenous shunts often associated with vision loss


– Vessel sheathing


– Absent spontaneous venous pulsations


– Optic atrophy


– Optic nerve edema


– Strabismus


– Nystagmus


– Proptosis


• CNS findings


– Bruit


– Cranial nerve paresis


– Hemiparesis


– Hemianopsia


– Intracranial hemorrhage


– AVMs of the cerebrum and brainstem


• Dermatologic findings


– Facial angiomas, nevi, or pigmented lesions


• Other findings


• AVMs of the maxilla, pterygoid fossa, or mandible


DIAGNOSTIC TESTS & INTERPRETATION


Lab


Initial lab tests

• Complete ophthalmologic examination with indirect ophthalmoscopy


• Fluorescein angiography shows rapid arteriovenous transit without leakage


• Optical coherence tomography (1)


Follow-Up & Special Considerations

Follow for development of ocular complications


Imaging


Initial approach

• MRI


• Magnetic Resonance Angiography (MRA)


Follow-up & special considerations

Follow for development of neurologic complications


Diagnostic Procedures/Other


Clinical diagnosis


Pathological Findings


• Retinal histology


– Retinal vessels were thickened with fibromuscular media and wide, fibrohyaline adventitial coats.


– Retinal vessels may occupy entire thickness of retina touching retinal pigment epithelium.


– Loss of nerve fibers and ganglion cells


DIFFERENTIAL DIAGNOSIS


• Hypertension


• Retinal neovascularization


• Intraretinal microvascular abnormalities


• Retinal vessel collaterals


• Retinal telangiectasias


• Sturge–Weber syndrome


• Von Hippel–Lindau disease


• Rendu–Osler–Weber disease


• Familial retinal arteriolar tortuosity


• Congenital unilateral retinal macrovessels


TREATMENT


MEDICATION


• Topical medications for increased IOP:


– Beta-blockers


– Carbonic anhydrase inhibitors


– Prostaglandin analogues


– Alpha-2 receptor agonists


– Miotic agents


• Systemic medications for increased IOP


– Carbonic anhydrase inhibitors


– Hyperosmotic agents


• Treatment of amblyopia with patching +/− cycloplegia


• Anticonvulsant medications for seizures


ADDITIONAL TREATMENT


General Measures


• Spontaneous involution may occur.


• Monitor for ocular or neurologic complications.


Issues for Referral


• Neurology referral if retinal AVMs are noted


• Dermatology referral for skin lesions


SURGERY/OTHER PROCEDURES


• Ophthalmic surgery


– Scatter panretinal photocoagulation for neovascular complications following vein occlusions (2)


– Glaucoma filtration or cyclodestructive procedures for cases failing medical management (2)


– Vitrectomy for nonclearing vitreous hemorrhage


– Strabismus surgery when indicated


• Neurosurgical intervention (3)


– Endovascular embolization


– Surgical resection


– Radiosurgical procedures


ONGOING CARE


FOLLOW-UP RECOMMENDATIONS


• Continued observation by:


– Ophthalmologist


– Neurologist/neurosurgeon


– Dermatologist


DIET


Regular


PATIENT EDUCATION


• National Institutes of Health Office of Rare Diseases Research


http://rarediseases.info.nih.gov/


• National Organization for Rare Disorders (NORD)


http://www.rarediseases.org/


PROGNOSIS


Depends on location and severity of lesions


COMPLICATIONS


• Vision loss


• Vein occlusions


• Neovascular glaucoma secondary to vein occlusion


• Secondary glaucoma due to increased episcleral venous pressure


• Vitreous hemorrhage


• Intracranial hemorrhage/stroke


• Seizures


• Uncontrolled oral bleeding



REFERENCES


1. Saleh M, Gaucher D, Sauer A, et al. Spectral optical coherence tomography analysis of a retinal arteriovenous malformation (Wyburn-Mason syndrome). J Fr Ophtalmol 2009;32(10):779–780.


2. Mansour AM, Wells CG, Jampol LM, et al. Ocular complications of arteriovenous communications of the retina. Arch Ophthalmol 1989;107(2):232–236.


3. Achrol AS, Guzman R, Varga M, et al. Pathogenesis and radiobiology of brain arteriovenous malformations: Implications for risk stratification in natural history and posttreatment course. Neurosurg Focus 2009;26(5):E9.

Only gold members can continue reading. Log In or Register to continue

Stay updated, free articles. Join our Telegram channel

Nov 9, 2016 | Posted by in OPHTHALMOLOGY | Comments Off on Syndrome

Full access? Get Clinical Tree

Get Clinical Tree app for offline access