A Child With Involuntary and Intermittent Eyelid Movements

Ahmar Sajjad, MD; Kimberly G. Yen, MD

Disclosures

October 21, 2016

Case Diagnosis and Clinical Course

This patient has Marcus Gunn jaw-winking syndrome. He does not have any extraocular movement deficits, which would be seen in Duane syndrome (abduction deficit), third nerve palsy (adduction and supraduction deficit), and congenital fibrosis of the extraocular muscles (limited eye movement in multiple directions). Blepharophimosis syndrome is associated with ptosis, telecanthus, and epicanthus inversus rather than abnormal movement of the eyelids.

This patient had no evidence of amblyopia or significant refractive error. The eyelid movement and mild ptosis were not bothersome to the patient or family, so the decision was made to simply monitor him sequentially.

Discussion

Congenital ocular aberrant innervation syndromes are a group of disorders that involve miswiring of the eyelids and the extraocular muscles. The most common types are Marcus Gunn jaw-winking syndrome and Duane syndrome.

The first case was published in 1883 by Marcus Gunn. He described a peculiar type of congenital ptosis that involved a winking motion of the affected eyelid upon movement of the jaw. He attributed the jaw winking to an abnormal innervation of the levator muscle by the third cranial nerve as well as a division of the trigeminal nerve.[1]

To appreciate this phenomenon, it is important to understand the normal anatomy of the eyelid. The motion of the eyelid relies on three nerves and their innervated muscles. The orbicularis oculi is innervated by the facial nerve and closes the eyes. The levator palpebrae superioris is innervated by the oculomotor nerve and elevates the lid. Finally, the Müller accessory muscle is innervated by the sympathetic nervous system and augments the opening of the eyelids. The movement of the jaw is mediated by lateral pterygoid muscles that are innervated by the mandibular branch of the trigeminal nerve.[2] It is postulated that in Marcus Gunn jaw-winking syndrome, a branch of the trigeminal nerve is congenitally misdirected to supply the levator muscles. Thus, movement of the jaw caused by the firing of the trigeminal nerve leads to abnormal extraocular and eyelid movements in these patients.

The clinical presentation varies between patients, ranging from a baseline ptosis that changes in relation to jaw or facial movements to the absence of ptosis.[3] Some reports suggest that as many as 5% of infants with congenital ptosis have this anomaly. Marcus Gunn jaw-winking syndrome also has been seen after trauma.

The diagnosis is clinical. However, confirmatory evidence can be obtained by electromyography of the levator and masseter muscles showing parallel electrical activity.[1]

Management depends on the degree of ptosis and the severity of the jaw winking. In patients with a mild jaw wink and mild or moderate ptosis, no intervention or unilateral levator surgery can be performed. A mild jaw wink with severe ptosis can be treated with bilateral levator disinsertion and bilateral frontalis slings. In cases with moderate or severe jaw winking and any degree of ptosis, bilateral levator weakening and bilateral autogenous fascia lata frontalis suspension are recommended.[4] Bilateral manipulation is preferred in severe ptosis because it results in better outcomes, even with unilateral disease.[1]

Editor's Recommendations

Comments

3090D553-9492-4563-8681-AD288FA52ACE
Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.
Post as:

processing....