Marcus Gunn Syndrome - A Rare Neural Misdirection Phenomenon Case Report.

Rationale: This case report describes the Marcus Gunn phenomenon (MGP), an infrequent type of congenital unwanted contractions of facial muscles that occurs in 4%-6% of patients with congenital ptosis. The defining characteristic of MGP is the affected eyelid lifting in a manner similar to the opening of the mouth. Patient Concerns: It addresses a 45-year-old man who was examined in the dental clinic with a severely decayed tooth. He exhibited evidence of normal vision and synchronous movement of his lips and eyelid. Diagnosis: The conditions matched those of the autosomal dominant disorder with incomplete penetration, the MGP. The carious tooth was restored without the necessity for any surgical intervention. Treatment: The patient was given appropriate dental treatment without any surgical intervention for Marcus Gunn Syndrome. Outcome: After receiving routine fillings to treat dental caries, the patient stopped complaining of pain. Take-away Lesson: This case report reveals insight into a situation that has been speculated to be an example of neural redirection syndrome, in which impulses from the trigeminal nerve's motor unit are naturally redirected into the levator palpebrae superioris muscles of the upper eyelid and the superior pterygoid muscle.

Marcus-Gunn jaw winking syndrome: case series study and management algorithm.

PURPOSE: To identify a rationale for treatment of patients with Marcus Gunn jaw winking syndrome (MGJWS). METHODS: Retrospective review of 38 consecutive patients with MGJWS referred to a single tertiary institution. Clinical data included visual acuity, ocular motility, side of jaw-wink, presence or absence of ptosis, levator function, clinical photographs, and management undertaken. Thirty-two patients were operated on with customized surgery by a senior surgeon (FQL). RESULTS: Cases with no ptosis or mild ptosis were managed conservatively. Levator advancement (LA) was successful in case of moderate ptosis and negligible synkynesis but resulted in a more evident synkinesis. Levator resection (LR) in patients with severe ptosis was associated with high rate of ptosis recurrence. Ptosis was adequately corrected in all patients submitted to uni- or bilateral levator excision (LE) and bilateral frontalis suspension (FS) or unilateral frontalis flap (FF). Jaw winking resolved in all patients submitted to LE but recurred in three cases at a later stage. Strabismus surgery was performed simultaneously in case of associated esotropia or hypotropia. CONCLUSIONS: Moderate ptosis can be corrected with LA, but success is not related to levator function and synkinesis becomes more evident postoperatively. In severe ptosis, LR showed unpredictable results. In case of severe ptosis and severe synkinesis, uni- or bilateral LE and bilateral FS are recommended; unilateral FF is an alternative in patients who refuse bilateral treatment, as the cosmetic outcome is usually better than after unilateral FS.

Marcus Gunn Syndrome in Primary Care: A Case Report.

Marcus Gunn syndrome (MGS) is a rare craniofacial condition characterized by abnormal eyelid movements synchronized with jaw muscle activity. This case report describes a one-month-old girl with right eyelid ptosis and involuntary movements of the right eyelid during sucking. The diagnosis of MGS was made based on clinical observations. The etiology of MGS is not well-defined, and long-term follow-up is necessary to assess the progression of the condition. Early referral to ophthalmologists and neurologists/pediatricians is important to evaluate concomitant conditions and prevent secondary complications. Primary care physicians, who maintain continuous contact with patients, play a crucial role in detecting initial symptoms, initiating appropriate investigations, and coordinating multidisciplinary care. By raising awareness among primary care physicians about the signs, symptoms, and referral pathways for MGS, this case report aims to improve the recognition and management of this rare condition in primary care settings. Emphasizing the role of family doctors in the early identification and referral of MGS can lead to better outcomes for affected patients.

Marcus Gunn Jaw-Winking Phenomenon and Monocular Elevation Deficiency in Association With Congenital Ptosis.

Marcus Gunn jaw winking (MGJW) is an uncommon entity and is associated with congenital ptosis. It is a neurogenic congenital ptosis, which is also called the Marcus Gunn phenomenon, trigeminal-oculomotor synkinesis, or pterygoid-levator synkinesis. Congenital ptosis can be associated with MGJW syndrome, blepharophimosis syndrome, and monocular elevation deficiency (MED). MED is a condition where there is a unilateral congenital abnormality in the elevation of the eye in abduction and adduction. The MGJW phenomenon, congenital ptosis, and double-elevator palsy may be associated with and represent a congenital misdirection syndrome. Together, it can be challenging, and surgery is recommended in severe cases, depending on the degree of ptosis and jaw winking. We hereby want to bring to light one such case of a 14-year-old female with congenital ptosis, MGJW, and double-elevator palsy and want to highlight how both MGJW and double-elevator palsy are both parts of the same disease spectrum and how such cases can be treated.

Management of Marcus Gunn jaw wink syndrome with tarsofrontalis sling vis a vis levator excision and frontalis sling: a comparative study.

PURPOSE: To compare the results between tarsofrontalis sling (TFS) and levator palpebrae superioris (LPS) excision with TFS in cases of ptosis with Marcus Gunn jaw winking syndrome (MGJWS). METHOD: A retrospective review of records of all patients undergoing either TFS (group A) or LPS excision along with TFS (group B) in cases of ptosis with MGJWS was done over the past 10 years and their results were compared. RESULTS: The study included 73 patients (75 eyes). There were 36 patients (36 eyes) in group A and 37 patients (39 eyes) in group B. There was a significant reduction in the excursion due to MGJWS from 4.7 ± 1.49 to 1.91 ± 1.04 mm in group A (p = .001) and 4.65 ± 1.34 to 1.79 ± 0.98 mm in group B (p < .05). The reduction in excursion due to MGJWS and lagophthalmos were comparable in both groups. The mean follow-up in group A was 5.62 ± 6.94 (Range: 1-24) months and group B was 19.15 ± 29.16 (Range: 1-96) months (p = .01). CONCLUSION: Both TFS and LPS excision with TFS is equally effective in dampening the eyelid excursion in MGJWS. Tarsofrontalis sling is a safe, easy and effective technique for MGJWS with lesser complication.

Long-term surgical outcomes of levator resection in patients with Marcus-Gunn jaw-winking ptosis.

PURPOSE: To report long-term surgical outcomes of a series of MGJWS patients with moderate ptosis who underwent levator resection. MATERIALS AND METHODS: A retrospective review of medical records of 10 MGJWS patients with moderate ptosis who underwent levator resection was performed in two major eye centers in Riyadh, Saudi Arabia from January 1987 to December 2019. Clinical features, pre-operative and post-operative data of the 10 patients were recorded. OUTCOME MEASURES: Long-term upper eyelid position. RESULTS: The mean patient age at presentation was 5.4 years. Seven patients were female and three were male. All patients had moderate ptosis with marginal reflex distance ranged from 1 to 2 mm. The mean age at surgery was 9.5 years. After initial good ptosis correction for all patients, seven of them had a recurrence of ptosis several months after levator resection. CONCLUSIONS: Levator resection in MGJWS patients with moderate ptosis and good levator function is associated with a high rate of ptosis recurrence and less predictable surgical results.

A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.

Background: Duane retraction syndrome and arthrogryposis multiplex congenita have an incidence of approximately 1:1500-1:3000 live births. However, the association of these two entities with a Marcus-Gunn might be a rare and, until now, under-recognized clinical presentation of the Wieacker-Wolff Syndrome.Patient and methods: We report a 7-year-old female with dysmorphic features, global developmental delay, arthrogryposis multiplex congenita (AMC), Duane retraction syndrome (DRS), and unilateral Marcus Gunn jaw winking.Results: Whole Exome Sequencing showed a de novo premature stop codon in ZC4H2. Extensive genetic and metabolic work was negative otherwise and Brain MRI showed delayed non-specific myelination abnormalities. She continues to have significant delays but does not have regression, seizures or other neurological complications. She has required a multidisciplinary approach for the management of her multiple contractures.Conclusion: This case confirms ZC4H2 as a cause of syndromic DRS and extends the ZC4H2 phenotype to include Marcus Gunn jaw winking.

Neonatal diagnosis of Marcus Gunn jaw-winking syndrome.

This report highlights the importance for neonatologists/pediatricians of considering Marcus Gunn jaw-winking syndrome among differential diagnoses of ptosis. A detailed clinical assessment is crucial to promptly recognize and appropriately manage it.

Surgical Outcomes of Unilateral Marcus Gunn Jaw Winking Ptosis Correction: A Novel Whitnall's Ligament Approach.

PURPOSE: To evaluate the surgical, functional, and cosmetic outcome in moderate to severe ptosis with Marcus Gunn jaw winking phenomenon and recurrence of disease after ptosis correction. This procedure has been emphasized on a child. METHODS: This was a prospective, non-comparative, interventional study conducted over 4 years on 30 people. The ages range from 7 to 40 years. The eyelid was approached from behind to identify the Whitnall's ligament. Levator palpebrae superioris was first disinserted then dissected up to the superior border of the tarsal plate followed by 20 to 25 mm by resection which causes disabling of the levator palpebrae superioris action. Subsequently, "tarso frontalis sling with silicon rod" for ptosis correction. Compared with the preoperative and postoperative photograph. RESULTS: Margin reflex distance 1 values are in the affected eye preoperative 1.8 ± 0.87 mm to postoperative 3.96 ± 0.41 mm. Preoperative palpebral fissure height are means 5.05 ± 0.62 mm to postoperative palpebral fissure height means 9.3 ± 0.71 mm. Ptosis significantly improved which is statistically significant (p < 0.05). Lid excursion or Flickering's in affected eyes preoperative means 6.1 ± 3.47 mm to postoperative after 1 year means are 0.43 ± 0.81 mm. Follow-up period is 1 year. CONCLUSIONS: Unilateral posterior approach (Whitnall's ligament approach) is found better in surgical, functional, and cosmetic outcomes in the correction of Marcus Gunn jaw winking syndrome, especially in children. The risk of bilateral extensive surgery is avoided. After the surgery, the primary gaze face photo identity was well-accepted in official government documents. This study is stressed on bilateral lid height similarity in primary gaze unlike the traditional method of downgaze similarities. The patients were highly satisfied both physically and mentally.

Síndrome de Marcus-Gunn / Marcus Gunn syndrome

Introducción: El síndrome de Marcus-Gunn se manifiesta con retracción o elevación del párpado ptótico ante la estimulación del músculo pterigoideo del mismo lado y el término "guiño mandibular" es inapropiado ya que el párpado no siempre desciende. Puede producirse en la apertura bucal, masticación, avance mandibular, al sonreír, silbar, bruxar, sacar la lengua, deglutir, chupar, cantar, en la contracción esternocleidomastoidea, maniobra de Valsalva, respirar o inhalar. Es congénito y de modalidad rara y autosómica dominante. Objetivo: Contribuir al conocimiento de esta rara enfermedad y a su relación con el ámbito odontológico. Presentación del caso: Se trata de un niño de 3 años diagnosticado de síndrome de Marcus-Gunn en el periodo neonatal, por la observación de la madre de una apertura palpebral izquierda durante la succión nutritiva. No presenta otras enfermedades ni antecedentes de interés. En la exploración extraoral se advierte una ptosis palpebral derecha y apertura palpebral izquierda en los movimientos mandibulares y deglución. La intensidad del reflejo se incrementa en estados de ansiedad derivados del tratamiento dental. Conclusiones: el síndrome de Marcus-Gunn es una entidad rara en pediatría, en la cual sus hallazgos clínicos determinan el diagnóstico. Teniendo en cuenta que en ocasiones presentan alteraciones oculares, nada nos hace sospechar la presencia de una enfermedad oral específica(AU)

Introduction: Marcus Gunn syndrome manifests with retraction or elevation of the eyelid ptotico while stimulation of the pterygoid muscle on the same side and the term jaw-winking is inappropriate because the eyelid does not always goes down. It can occur during mouth opening, mastication, mandibular advancement, while smiling, whistling, bruxing, sticking out the tongue, swallowing, sucking, singing, during the sternocleidomastoid contraction, the Valsalva maneuver, breathing or inhaling. This syndrome is congenital and rare, and of autosomal dominant modality. Objective: To contribute to the knowledge of this rare disease and its relationship with the odontologic field. Presentation of the case: 3 years old boy diagnosed with Marcus Gunn syndrome in the neonatal period by the observation of the mother of a left palpebral opening during the nutritive sucking. He does not present other diseases or a background of interest. In the extraoral exploration, it is noticed a right palpebral ptosis and a left palpebral opening in the jaw movements and in swallowing. The intensity of the reflex increases in anxiety states arising from the dental treatment. Conclusions: Marcus Gunn syndrome is a rare entity in pediatrics, in which its clinical findings determine the diagnosis. Taking into account that sometimes it presents ocular alterations, nothing makes us suspect the presence of a specific oral disease(AU)

The rare phenomenon of Marcus-Gunn jaw winking without ptosis: Report of 14 cases and review of the literature.

Purpose: To report a rare case series of 14 patients of the Marcus-Gunn jaw-winking phenomenon (MGJWP) without ptosis. Methods: This was a retrospective noninterventional case series. The medical records of all patients diagnosed with MGJWP over the past 10 years were retrieved. Patients with documented evidence of absence of ptosis were segregated and analyzed for visual acuity, the severity of Marcus-Gunn, the presence of squint and amblyopia, and the presence of other aberrant regenerations. Results: A total of 207 patients were diagnosed with MGJWP, out of which 14 (6.76%) patients had isolated MGJWP without blepharoptosis. The mean age of presentation was 9.5 years and males and females were equally affected. The left eye was involved more commonly (57.2%) than the right eye. Twelve patients were congenital and two were presumed to be of traumatic origin. The most common refractive error in this cohort was astigmatism (10, 71.42%), followed by hyperopia (5, 35.71%). One patient had anisometropic amblyopia. Marcus-Gunn was found to be mild (≤2 mm of lid excursion) in all cases. None of the patients had strabismus or any other aberrant innervations. None of the patients underwent surgery and did not develop ptosis or worsening or improvement of Marcus-Gunn after a mean follow-up period of 2.3 years. Conclusion: Isolated MGJWP in the absence of ptosis is a very rare entity and this is the largest series to date to report such an occurrence. All patients had a mild form of MGJWP with no intervention required in any of the cases.

Is there a primitive reflex residue underlying Marcus Gunn Syndrome? Rat electrophysiology.

AIM: To make an electrophysiological demonstration of a possible jaw muscle afferents-oculomotor neural pathway that was proposed by our previous works on rats, which substantiates an early "release hypothesis" on pathogenesis of human Marcus Gunn Syndrome (MGS). METHODS: Extracellular unit discharge recording was applied and both orthodromic and spontaneous unitary firing were recorded in the oculomotor nucleus (III), and the complex of pre-oculomotor interstitial nucleus of Cajal and Darkschewitsch nucleus (INC/DN), following electric stimulation of the ipsilateral masseter nerve (MN) in rats. RESULTS: Extracellular orthodromic unit discharges, with latencies of 3.7±1.3 and 4.7±2.9ms, were recorded unilaterally in the III, and the INC/DN neurons, respectively. Spontaneous unit discharges were also recorded mostly in the INC/DN and less frequently in the III. Train stimulation could prompt either facilitation or inhibition on those spontaneous unit discharges. The inhibition pattern of train stimulation on the spontaneous discharging was rather different in the III and INC/DN. A slow inhibitory pattern in which spontaneous firing rate decreased further and further following repeated train stimulation was observed in the III. While, some high spontaneous firing rate units, responding promptly to the train stimuli with a short-term inhibition and recovered quickly when stimuli are off, were recorded in the INC/DN. However, orthodromic unit discharge was not recorded in the III and INC/DN in a considerable number of experiment animals. CONCLUSION: A residual neuronal circuit might exist in mammals for the primitive jaw-eyelid reflex observed in amphibians, which might not be well-developed in all experimental mammals in current study. Nonetheless, this pathway can be still considered as a neuroanatomic substrate for development of MGS in some cases among all MGS with different kind of etiology.

Marcus Gunn Jaw-Winking Syndrome: a Case Report.

INTRODUCTION: Marcus Gunn syndrome is a rare phenomenon with very less number of cases reported in literature. It may be congenital or acquired. AIM: The aim of this case report was to report the clinical characteristics of Marcus Gunn patient from our Clinic. CASE REPORT: A comprehensive opthalmologic examination, CDVA (corrected distance visual acuity), fundus examination and photography, was conducted in Marcus Gunn patient. Clinical findings of patient presented as - chin positioned slightly upwards, extraocular motility normal on both eyes, cover test with normal findings, pupillary examination normal on both eyes. Left upper eyelid was in a lower position than the right one. On right eye, rima interpalpebrarum was 9 mm with upgaze of 13mm. On the left eye, rima interpalpebrarum was 5 mm with upgaze of 6 mm, and with open mouth, left rima interpalpebrarum was 10 mm. Visual acuity on both eyes was 1.0. Cycloplegic refraction on both eyes was +0,75 diopters (D), and Lang test was normal. In the differential diagnosis of patients with ptosis, Marcus Gunn jaw winking syndrome should be considered especially if it improves during feeding, sucking, chewing, smiling or any kind of mouth movement. In case of ptosis always do the jaw test. Have the infant bottle-feed. An older child can chew gum. Have the patient open the mouth, move the jaw from side to side, or protrude the jaw forward. CONCLUSION: Address first to treatment of any amblyopia if present - eyeglasses, patching etc., or strabismus. Think twice before deciding to operate.

Marcus Gunn Jaw-Winking Syndrome Associated with Morning Glory Disc Anomaly.

Marcus Gunn jaw-winking syndrome (MGJWS) is a rare form of congenital blepharoptosis and one of the congenital cranial dysinnervation disorders (CCDD). In addition, morning glory disc anomaly (MGDA) is a congenital optic disc anomaly of unknown etiology. The present report is the first to describe an association between MGJWS and MGDA in an otherwise healthy 7-year-old boy. He also had counting finger vision, anisometropia, esotropia, and monocular elevation deficiency in the same eye. In the literature, both MGJWS and MGDA have been reported to be associated with Duane retraction syndrome, a form of CCDD.

Marcus Gunn (jaw-winking) phenomenon in pediatric otorhinolaryngology practice.

Marcus Gunn phenomenon (MGP) is a rare form of congenital facial synkinesis known as jaw-winking or pterygoid-levator synkinesis. The MGP is the raising of the affected eyelid is synchronous and proportionate to the opening of the mouth. The etiology is unclear. Most authors claim that a branch of trigeminal nerve has been congenitally misdirected into position of the oculomotor nerve which supplies the levator muscle of the upper lid. The MGP deals with number of problems which have to be manage by ENT doctors, but they are not well­documented. We describe the first time Marcus Gunn phenomenon associated with an olfactory nerve disturbance. We have especially emphasized laryngological aspect of MGP diagnosis and the need for deeper interdisciplinary diagnostics in each child with olfactory dysfunction.

A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.

BACKGROUND: Congenital fibrosis of the extraocular muscles (CFEOM1) is classically a congenital, non-progressive, restrictive strabismus syndrome characterized by bilateral ptosis and ophthalmoplegia with an infraducted position of the globes. This autosomal dominant syndrome is caused by mutations in the KIF21A gene. METHODS AND RESULTS: In this report we describe a 5-year-old boy, and his mother, both of whom have a mutation in the KIF21A gene, who possesses typical features of CFEOM1 syndrome. Besides displaying typical features of CFEOM1, he demonstrated Marcus Gunn jaw-winking phenomenon. The patient additionally had a positive family history of such features. CONCLUSION: This is first report of the coexistence of CFEOM and Marcus Gunn jaw-winking phenomenon in a patient with a KIF21A mutation from Turkey. We explain the phenotypic findings associated with mutations in KIF21A including CFEOM1A and Marcus Gunn jaw-winking phenomenon.