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

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