Rochon-Duvigneaud's syndrome

Overview

Rochon-Duvigneaud's syndrome is a rare ophthalmologic and craniofacial condition characterized by the protrusion of the eye (exophthalmos) associated with a fracture or injury to the orbital walls, most often due to trauma or congenital anomalies. The syndrome is named after the French ophthalmologist Pierre Rochon-Duvigneaud, who first described the condition in the early 20th century.

The hallmark of the syndrome is pulsating or non-pulsating exophthalmos resulting from an abnormal communication between the cranial cavity and the orbit, typically due to defects in the orbital walls. This may occur following trauma, surgical intervention, or congenital malformations such as sphenoid dysplasia. Patients may also present with visual disturbances, cosmetic deformity, or signs of increased intracranial pressure depending on the severity and cause.

Causes

Rochon-Duvigneaud's syndrome is primarily caused by structural defects involving the orbital walls, particularly the superior or lateral orbital wall, which allows brain tissue or cerebrospinal fluid (CSF) to herniate into the orbit. These defects can be due to:

Traumatic Causes:

• Fractures of the orbital roof due to blunt craniofacial trauma

• Post-surgical defects following cranial or orbital procedures

Congenital Causes:

• Sphenoid wing dysplasia, often associated with neurofibromatosis type 1 (NF1)

• Congenital skull base defects allowing encephalocele (herniation of brain tissue into the orbit)

Other Associated Conditions:

• Infections or tumors eroding the orbital wall

• Increased intracranial pressure leading to orbital protrusion through weak areas

Symptoms

Clinical presentation of Rochon-Duvigneaud's syndrome depends on the underlying cause, size of the defect, and degree of orbital involvement. Symptoms may be unilateral or bilateral, depending on the extent of structural involvement.

Common Signs and Symptoms:

• Exophthalmos: Forward displacement of the eye, which may be pulsatile (if associated with CSF pulsation or arterial flow)

• Visual disturbances: Blurred vision, diplopia (double vision), or decreased visual acuity

• Proptosis with pulsation: Rhythmic eye movement, often synchronous with heartbeat, suggesting communication with intracranial pulsations

• Orbital pain or pressure: Especially in cases of traumatic or rapidly expanding lesions

• Asymmetry of the eyes: Cosmetic deformity noticeable to the patient or others

In Severe or Complicated Cases:

• Optic nerve compression

• Restricted eye movement due to extraocular muscle involvement

• Signs of increased intracranial pressure (e.g., headache, nausea)

Diagnosis

Diagnosis of Rochon-Duvigneaud's syndrome is based on a combination of clinical examination and radiologic imaging. Identifying the underlying defect and its communication with intracranial structures is essential for planning treatment.

Clinical Examination:

• Assessment of exophthalmos using Hertel exophthalmometry

• Evaluation of visual acuity, pupil reactivity, and ocular motility

• Pulsatile nature of exophthalmos observed by palpation or inspection

Imaging Studies:

• CT scan of the orbit and skull base: To detect bony defects in the orbital walls

• MRI of the brain and orbit: To evaluate soft tissue, detect encephalocele, and assess optic nerve involvement

• Angiography (if needed): To rule out vascular causes like carotid-cavernous fistula

Differential Diagnosis:

• Carotid-cavernous fistula (CCF)

• Orbital tumors

• Thyroid eye disease

• Orbital cellulitis or pseudotumor

Treatment

Treatment of Rochon-Duvigneaud's syndrome depends on the cause and severity of symptoms. Mild, non-progressive cases may be managed conservatively, while symptomatic or progressive cases typically require surgical intervention.

1. Conservative Management:

• Observation in asymptomatic cases or those with minimal exophthalmos

• Protective eyewear to prevent exposure-related complications

• Regular follow-up with ophthalmology and neurology

2. Surgical Management:

• Orbital wall reconstruction: Using autologous bone grafts or synthetic implants to repair the defect

• Repair of encephalocele: Neurosurgical intervention if brain tissue herniation is present

• Decompression surgery: If optic nerve compression or increased intraorbital pressure is identified

3. Supportive Care:

• Visual rehabilitation and optical correction as needed

• Management of any associated neurological or systemic condition (e.g., NF1)

Prognosis

The prognosis of Rochon-Duvigneaud's syndrome depends on the underlying etiology, severity of the defect, and the timeliness of intervention. Many patients with mild, non-progressive exophthalmos have a stable course and maintain good visual function. Surgical repair generally has a favorable outcome, especially in cases without significant optic nerve involvement or recurrent intracranial pressure issues.

Long-term monitoring is essential in patients with associated syndromes like neurofibromatosis or those at risk of progressive skull base abnormalities. With appropriate care and multidisciplinary management, cosmetic and functional outcomes can be significantly improved.