Bilateral Marcus Gunn jaw-Winking Syndrome in a Neonate with Congenital Neurosyphilis.

A 4-week-old male infant born at 33 weeks of gestation presented with repetitive bilateral eyelid blinking with feeds. The mother's pregnancy was complicated by maternal syphilis and methamphetamine exposure. Prenatal laboratory tests on admission showed maternal rapid plasma reagin positivity (1:64), and the baby subsequently was found to have a positive serum rapid plasma reagin (1:4) and positive venereal disease research laboratory in cerebrospinal fluid (1:1). The baby's urine toxicology screen was negative. The general examination demonstrated hepatomegaly and syphilitic rhinitis (snuffles); there were otherwise no ocular, bone, audiologic, dermatologic, or dental abnormalities. He was treated with intravenous penicillin for 10 days, after which his hepatomegaly and syphilitic rhinitis resolved, but his abnormal eyelid movements persisted. Synkinesis of bilateral eyelid elevation and suck was noted during bottle feeds (Video; available at www.jpeds.com). The baby also demonstrated left ptosis at rest when not sucking or opening the jaw. The remainder of the neurological examination was normal for corrected age. Magnetic resonance imaging of the brain with and without contrast was normal. Synkinetic jaw movement with blinking, known as Marcus Gunn jaw-winking syndrome, is a congenital cranial innervation disorder wherein a usually ptotic eyelid elevates with mouth opening. Other names for the disorder include trigemino-oculomotor synkinesis and pterygoid-levator synkinesis. Marcus Gunn, the famed Scottish ophthalmologist, first described the disorder in 1883 as a unilateral phenomenon.1Gunn M. Congenital ptosis with peculiar associated movements of the affected lid. Trans Ophthalmol Soc UK1883;3:283-287.Google Scholar Bilateral symptoms are an underappreciated and comparatively rarer finding, present in an estimated 3.8% of cases, and can easily be mistaken for normal blinking.2Kannaditharayil D. Geyer H. Hasson H. Herskovitz S. Bilateral Marcus Gunn jaw-winking syndrome.Neurology. 2015; 84: 1061https://doi.org/10.1212/WNL.0000000000001338Crossref PubMed Scopus (12) Google Scholar, 3Sobel R.K. Allen R.C. Incidence of bilateral Marcus Gunn jaw-wink.Ophthal Plast Reconstr Surg. 2014; 30: e54-e55https://doi.org/10.1097/IOP.0b013e31829bb405Crossref PubMed Scopus (7) Google Scholar, 4Cavuoto K.M. Kostic M. McKeown C.A. Tibi C. Marcus Gunn jaw winking syndrome in a 6-year-old boy: a new observation.J AAPOS. 2020; 24: 252-253https://doi.org/10.1016/j.jaapos.2020.04.003Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar The disorder is thought to result from aberrant midbrain connections between the trigeminal mesencephalic and oculomotor nuclei, although others postulate anomalous connections between the mandibular division of the trigeminal nerve innervating the lateral pterygoid and the superior division of the oculomotor nerve innervating the levator palpebrae superioris.2Kannaditharayil D. Geyer H. Hasson H. Herskovitz S. Bilateral Marcus Gunn jaw-winking syndrome.Neurology. 2015; 84: 1061https://doi.org/10.1212/WNL.0000000000001338Crossref PubMed Scopus (12) Google Scholar An evolutionary explanation pertains to disinhibition of phylogenetically ancient circuitry as a release phenomenon, invoking synkinesis as an atavism with respect to fish.5Simpson D.G. Marcus Gunn phenomenon following squint and ptosis surgery; definition and review.AMA Arch Ophthalmol. 1956; 56: 743-748https://doi.org/10.1001/archopht.1956.00930040751014Crossref PubMed Scopus (7) Google Scholar Fish have a strong association between jaw opening and eye opening, with deep muscles contracting and superficial muscles relaxing. Anecdotally, this may inform why some individuals open their mouths while widely opening their eyes to place contact lenses or eye drops. The differential diagnosis for Marcus Gunn jaw-winking syndrome includes other synkinetic movement disorders, including its inverse disorder, Marin–Amat syndrome, and Duane syndrome (Table).6Myers K.A. Innes A.M. Mah J.K.W. Familial congenital facial synkinesis due to 12q duplication: a case report and literature review.Pediatrics. 2016; 138: e20161724https://doi.org/10.1542/peds.2016-1724Crossref PubMed Scopus (2) Google Scholar, 7Pavone P. Garozzo R. Trifiletti R.R. Parano E. Marin-Amat syndrome: case report and review of the literature.J Child Neurol. 1999; 14: 266-268https://doi.org/10.1177/088307389901400411Crossref PubMed Scopus (16) Google Scholar, 8Barry B.J. Whitman M.C. Hunter D.G. Engle E.C. Duane syndrome.in: Adam M.P. Mirzaa G.M. Pagon R.A. GeneReviews®. University of Washington, Seattle, 1993http://www.ncbi.nlm.nih.gov/books/NBK1190/Date accessed: July 24, 2022Google Scholar, 9David D. Chiavaroli V. Lanci M. Sabatini L. Greco S. Carinci S. et al.Neonatal diagnosis of Marcus Gunn jaw-winking syndrome.Clin Case Rep. 2021; 9: 866-869https://doi.org/10.1002/ccr3.3664Crossref PubMed Scopus (2) Google Scholar Complications of Marcus Gunn jaw-winking syndrome comprise strabismus and anisometropia (50%-60% and 5%-25%, respectively), which may result in amblyopia.10Pratt S.G. Beyer C.K. Johnson C.C. The Marcus Gunn phenomenon. A review of 71 cases.Ophthalmology. 1984; 91: 27-30https://doi.org/10.1016/s0161-6420(84)34331-7Abstract Full Text PDF PubMed Google Scholar Thus, prompt referral to ophthalmology or neuro-ophthalmology is recommended.TableDifferential diagnosisMarcus Gunn jaw-winking syndromeInverse Marcus Gunn jaw-winking syndrome6Myers K.A. Innes A.M. Mah J.K.W. Familial congenital facial synkinesis due to 12q duplication: a case report and literature review.Pediatrics. 2016; 138: e20161724https://doi.org/10.1542/peds.2016-1724Crossref PubMed Scopus (2) Google ScholarMarin–Amat syndrome7Pavone P. Garozzo R. Trifiletti R.R. Parano E. Marin-Amat syndrome: case report and review of the literature.J Child Neurol. 1999; 14: 266-268https://doi.org/10.1177/088307389901400411Crossref PubMed Scopus (16) Google ScholarDuane syndrome8Barry B.J. Whitman M.C. Hunter D.G. Engle E.C. Duane syndrome.in: Adam M.P. Mirzaa G.M. Pagon R.A. GeneReviews®. University of Washington, Seattle, 1993http://www.ncbi.nlm.nih.gov/books/NBK1190/Date accessed: July 24, 2022Google ScholarPhysical examinationSynkinetic blinks, specifically eyelid raising, with mouth openingSynkinetic blinks with mouth closingSmiling or mouth opening with eye closure due to blepharospasmRetraction movements and palpebral fissure narrowing with ocular adduction (and sometimes other associated features)Proposed etiologyAberrant innervation in midbrain or peripheral cranial nervesAberrant innervation in midbrain or peripheral cranial nervesAberrant innervation between trigeminal and facial nervesDysfunctional abducens motor nucleus and nerve with aberrant innervation of lateral rectus by oculomotor nerve Open table in a new tab Syphilis has only once been reported as an associated pathology with unilateral jaw-winking ptosis. That case published in 1937 occurred during recovery from a unilateral oculomotor palsy after antisyphilitic treatment.5Simpson D.G. Marcus Gunn phenomenon following squint and ptosis surgery; definition and review.AMA Arch Ophthalmol. 1956; 56: 743-748https://doi.org/10.1001/archopht.1956.00930040751014Crossref PubMed Scopus (7) Google Scholar,11Ascher K.W. Med Klin. 1937; 33: 1259-1261Google Scholar It is possible this infection resulted in aberrant midbrain or peripheral nerve connections, or as an atavistic release phenomenon, although causality cannot be inferred. eyJraWQiOiI4ZjUxYWNhY2IzYjhiNjNlNzFlYmIzYWFmYTU5NmZmYyIsImFsZyI6IlJTMjU2In0.eyJzdWIiOiI3NmY2M2NiYTQ0MjdkZTE5YWQ0NDRiZjgyMzZkOWFhNyIsImtpZCI6IjhmNTFhY2FjYjNiOGI2M2U3MWViYjNhYWZhNTk2ZmZjIiwiZXhwIjoxNjk0NDcxMDc4fQ.bSgNssqCN6CZETJ7mxHylld5-y6wCv8u6vzegWahJOgZo86aUrhMWQl1Rrc8ICz6yVTS9gv4M3Uvv1G81ogjHbdynxZC1Jq2Jv6qhRQhwdcIPBQxIrOhHZtPSmIYPPHCH1U-N7xayXNiBkbo-L4PGdiSTyGZXuREiCHAD_5T7-ATEOSW5lyNb2rytlynvJ6aGJGFW0kDVj9OlZ0dcZ-M9lSc-zXdkuygcyhPI5H7cTOkIOHHh7RELiLtTXSKpg_eeJ3kt59bumMsny6ssU9IHSPP6jCA_CbX814kzf84IEUiG-suChlIE7rEaGKYjOERdVjz2O5_b81xGXTllpsldQ Download .mp4 (15.87 MB) Help with .mp4 files VideoBilateral sykinetic eyelid elevation with suck during bottle feed.