Surgery for longer duration supranuclear ophthalmoplegia secondary to brain stem cavernoma: A case report and literature review.

BACKGROUND: Previous reports revealed that patients with acquired paralytic strabismus caused by central nervous system diseases are primarily affected by the etiology and treatment of the condition. Strabismus correction for these acquired paralytic strabismus should be performed as soon as the primary disease has been stabilized for 6 months in order to archive a favorable surgical outcome. CASE: We followed an infrequent case of longer-lasting supranuclear ophthalmoplegia secondary to brain stem cavernoma. OBSERVATION: A 25-year-old Chinese Han female developed aberrant head posture and ipsilateral conjugate gaze palsies 8 years after the first brainstem hemorrhage caused by pontine cavernoma. The patient was diagnosed with supranuclear ophthalmic palsy and brain stem cavernoma after surgery. A resection-recession procedure along with a rectus muscle transposition was performed. The patient's abnormal head position disappeared, with a normal primary position. CONCLUSION: Resection-recession procedures combined with rectus muscle transposition works very well for longer duration large-angle strabismus caused by brain stem cavernoma.

Successful surgical treatment of oculomotor palsy due to schwannoma of the cavernous sinus in a 7-year-old girl: a case report.

Oculomotor nerve schwannoma in children not associated with neurofibromatosis is a rare disease, with 26 pediatric cases reported so far. There is no established treatment plan. A 7-year-old girl presented with oculomotor nerve palsy. Surgical reduction of the tumor combined with postoperative gamma knife surgery preserved the oculomotor nerve, improved oculomotor nerve function, and achieved tumor control during the observation period of 20 months. The combination of partial surgical resection and gamma knife surgery as a treatment strategy for oculomotor nerve schwannoma resulted in a good outcome.

Successful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case Report.

BACKGROUND Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is an autosomal recessive disease caused by thymidine phosphorylase deficiency leading to progressive gastrointestinal dysmotility, cachexia, ptosis, ophthalmoparesis, peripheral neuropathy and leukoencephalopathy. Although liver transplantation corrects thymidine phosphorylase deficiency, intestinal deficiency of the enzyme persists. Retrospective chart review was carried out to obtain clinical, biochemical, and pathological details. CASE REPORT We present a case of liver and subsequent intestine transplant in a 28-year-old man with MNGIE syndrome with gastrointestinal dysmotility, inability to walk, leukoencephalopathy, ptosis, cachexia, and elevated serum thymidine. To halt progression of neurologic deficit, he first received a left-lobe partial liver transplantation. Although his motor deficit improved, gastrointestinal dysmotility persisted, requiring total parenteral nutrition. After exhaustive intestinal rehabilitation, he was listed for intestine transplantation. Two-and-half years after liver transplantation, he received an intestine transplant. At 4 years after LT and 20 months after the intestine transplant, he remains off parenteral nutrition and is slowly gaining weight. CONCLUSIONS This is the first reported case of mitochondrial neurogastrointestinal encephalomyopathy to undergo successful sequential liver and intestine transplantation.

Congenital Fibrosis of Extraocular Muscles: A Systematic Review and Meta-Analysis.

PURPOSE: To quantify typical disease characteristics for patients with congenital fibrosis of the extraocular muscles (CFEOM) including pre-and post-surgical ocular alignment and head positioning as well as average improvement with surgical intervention. PATIENTS AND METHODS: This investigation is a systematic review and meta-analysis. All studies detailing surgical intervention in cohorts of individuals with CFEOM were included. Ocular alignment and head positioning before and after surgery was recorded. Meta-analyses were performed to quantify these findings along with other patient characteristics across all included studies. RESULTS: The estimated average improvement in vertical alignment for patients with unilateral and bilateral CFEOM was 34.8 pd (prism diopters) and 21.27 pd, respectively. For horizontal alignment, patients with unilateral and bilateral CFEOM improved an average of 25.39 pd and 10.99 pd after surgery, respectively. There was no significant difference between the two most common surgeries used to address hypotropia and blepharoptosis in this patient population. The estimated proportion of patients with post-surgical head alignment within 5-9° was 60.64% and was 28.25% for patients with<5° of alignment. CONCLUSION: This study was able to illuminate many characteristic features of patients with CFEOM. Surgical intervention for the ocular alignment and head positioning of these patients demonstrates promising utility.

Complete ophthalmoplegia secondary to idiopathic intracranial hypertension managed successfully with dural sinus stenting: A case and systematic review.

Idiopathic Intracranial Hypertension (IIH) typically occurs in obese (BMI >30 kg/m2) females of childbearing age in the absence of any apparent intracranial space-occupying lesion. Patients typically present with headache, nausea, vomiting, tinnitus, and blurry vision secondary to increased intracranial pressure, with more severe cases involving cranial neuropathies and ophthalmological manifestations. Complete ophthalmoplegia is a rare event in IIH. In such cases, aggressive management with pharmacological, endovascular, and surgical intervention is essential to hasten recovery and limit long-term neurological and visual deficits. Herein, we present a rare case of a patient with IIH associated with third, fourth, and sixth cranial nerve palsies, resulting in complete unilateral ophthalmoplegia, who underwent dural sinus stenting and 2.5-year follow-up revealed complete resolution with full extraocular movements. We also perform a systematic literature review of complete and partial ophthalmoplegia secondary to IIH, highlighting the associated presentations, pathophysiology, management, and outcomes.

Approach to the Superior Ophthalmic Vein for Endovascular Treatment of Cavernous Dural Fistula.

The cavernous sinus area is the second most common location for intracranial dural fistulas. Although these spontaneous dural cavernous fistulas are self-limited, a sizeable number of patients will develop progressive vision loss, diplopia, or intractable glaucoma, which warrant interventional therapy.1,2 We present the case of a 54-year-old male with hypertension and type 2 diabetes, who presented with a red right eye associated with progressive exophthalmos, ophthalmoparesis, and deterioration of visual acuity. The angiotomography showed the exophthalmos with an ingurgitated superior ophthalmic vein, with early filling in the arterial phase. A digital angiography was made, and a diagnosis of dural cavernous fistula, Barrow type D was made.3 Considering several transvenous approaches, alternatives included inferior petrosal sinus, access through the superior ophthalmic vein, and an open approach.4 In this particular case the inferior petrosal sinus was not present, so we tried to catheterize through the facial vein and also puncture the ophthalmic vein. Both procedures were unsuccessful. We decided to perform, then, an open approach with the oculoplastic surgery team (Video 1). Through an eyelid dissection, we localized the superior ophthalmic vein and then canalized it by direct visualization.5 With this approach, we were able to perform the cavernous sinus packing with coils and achieved a complete occlusion of the fistula. We reproduced the direct approach to the superior ophthalmic vein in a cadaveric specimen and schematized it step by step with 3-dimensional photographs.6.

The oculomotor neurovascular conflict: Literature review and proposal of management.

BACKGROUND: The Oculomotor nerve (OCN) lies in a close relationship with large arteries inside the basal cisterns. Therefore, it may be compressed by vascular malformations or aneurysms. Nevertheless, the compression is not always related to pathologic conditions. Indeed, some cases of neurovascular conflicts of the OCN have been described in the literature. METHODS: A case of neurovascular conflict of the OCN resolved after steroid treatment is reported. Additionally, a systematic literature review of those cases was performed. RESULTS: OCN palsy due to a neurovascular conflict has been described as acute or chronic persistent palsy, or with an intermittent presentation. Symptoms result from compression, although asymptomatic compression is not uncommon. Surgical treatment, pharmacological treatment, and observation have been reported as options in the literature. Microvascular decompression was employed effectively in some cases of OCN neurovascular conflict. Nevertheless, other cases were treated successfully with steroids (persistent presentation) and carbamazepine (intermittent presentation). A management algorithm based on the results of the literature review is proposed. CONCLUSIONS: Treatment options for OCN neurovascular conflicts and their results are heterogeneous. Based on the literature review, the pharmacological treatment seems to be the most appropriate first-line approach, reserving surgery for refractory cases. Collecting clinical information about new cases will allow defining treatment standards for this rare condition.

Near Reflex Substitution for Horizontal Gaze Palsy in a Patient With Facial Colliculus Syndrome.

Paradoxical convergence movements on attempted side gaze have been rarely reported in horizontal gaze palsy. The authors report the clinical manifestation of right-sided facial colliculus syndrome in a 9-year-old girl who manifested convergence, miosis, and myopic shift on attempting right gaze that was treated with strabismus surgery, and provide a comprehensive literature review. [J Pediatr Ophthalmol Strabismus. 2020;57:e15-e18.].

Craniosynostosis and oculomotor disorders.

Simple, complex or syndromic craniosynostosis may be responsible for ocular and especially oculomotor pathologies. Among simple craniosynostosis, anterior plagiocephaly is the most frequently associated with oculomotor disorders. Oculomotor disorders encountered in craniosynostosis are specific to this pathology. They may be related to orbital deformities or oculomotor muscle malformations. Early craniofacial surgery reduces the onset and severity of these oculomotor disorders which is very important for ophtalmological patient care. Indeed, these oculomotor disorders are difficult to treat for the ophthalmologist with most of the time several surgeries needed, and lead to amblyopia if neglected.

Surgical management of pediatric patients with congenital fibrosis of the extraocular muscles.

PURPOSE: Congenital fibrosis of the extraocular muscles (CFEOM) is a rare nonprogressive disorder characterized by bilateral ptosis, with severely limited ocular motility. We report the treatment outcomes and problems in 3 cases of pediatric CFEOM in which extraocular muscle surgery was performed. CASES: All the cases showed bilateral ptosis and a chin-up abnormal head posture (AHP). Case 1 A 6-year-old girl. Both eyes were fixed downward with esotropia and could not elevate above the horizontal midline. She underwent simultaneous bilateral inferior rectus (IR) and medial rectus (MR) recession. Postoperatively, 8-prism-diopter (PD) exotropia was observed, and the AHP were improved, but MR advancement in the right eye was necessary because A-pattern exotropia became prominent starting about 10 months postoperatively. Case 2 A 7-year-old girl. Both eyes were fixed downward and did not elevate over the midline. She underwent bilateral IR recession. Postoperatively, 8-PD exotropia was observed; however, A-pattern exotropia became prominent gradually at about 1 year and 7 months postoperatively, and bilateral lateral rectus (LR) recession was added. Case 3 A 6-year-old girl. Both eyes were fixed downward but could be elevated above the horizontal midline by upward effort. She underwent bilateral IR recession, which resulted in improvement of the AHP and ptosis. About 8 months postoperatively, exotropia was evident only in the downward gaze. CONCLUSIONS: Bilateral IR recession in pediatric patients with CFEOM was effective in improving AHP, but postoperative exotropia appeared to be inevitable owing to the diminished adducted function caused by IR recession. Thus, horizontal strabismus surgery should be planned after the results of IR recession become evident.

Anomalous superior oblique muscles and tendons in congenital fibrosis of the extraocular muscles.

PURPOSE: To evaluate the finding of anomalous superior oblique muscles in congenital fibrosis of the extraocular muscles (CFEOM), a feature not previously emphasized in this condition. METHODS: The medical records of all patients clinically or genetically diagnosed with CFEOM at Boston Children's Hospital between 2010 and 2018 were reviewed retrospectively. Those who underwent strabismus surgery during the study period were included in the analysis. Baseline patient characteristics, type of CFEOM, results of genetic testing, and intraoperative features of the superior oblique muscle or tendon were recorded. RESULTS: Of 24 patients identified (age range, 1 month to 62 years), 10 (42%) had genetically confirmed CFEOM, and 22 underwent strabismus surgery, 14 (64%) involving the superior oblique muscle. Of these, 7 (50%) had anomalously inserted tendons (most commonly attached nasal to the superior rectus muscle), whereas 7 (50%) had increased superior oblique muscle tension. CONCLUSIONS: Half of CFEOM patients who underwent superior oblique surgery had abnormally inserted superior oblique tendons, and 50% had tight muscles or abnormally thin tendons, findings that have not been well-characterized in this condition. The findings suggest that abnormal insertion of the superior oblique muscles and tendons are additional features of the disease process in CFEOM that have not been described previously. These features may contribute to the severe upgaze limitation in CFEOM and highlight the importance of superior oblique tenotomy in surgical management.

Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles.

PURPOSE: To detail surgical strategy and strabismus outcomes in a genetically defined cohort of patients with congenital fibrosis of the extraocular muscles (CFEOM). METHODS: A total of 13 patients with genetically confirmed CFEOM (via genetic testing for mutations in KIF21A, PHOX2A, and TUBB3) were retrospectively identified after undergoing strabismus surgery at Boston Children's Hospital and surgical outcomes were compared. RESULTS: Age at first surgery ranged from 11 months to 63 years, with an average of 3 strabismus procedures per patient. Ten patients had CFEOM1, of whom 9 had the KIF21A R954W amino acid substitution and 1 had the M947T amino acid substitution. Of the 3 with CFEOM3, 2 had the TUBB3 E410K amino acid substitution, and 1 had a previously unreported E410V amino acid substitution. CFEOM1 patients all underwent at least 1 procedure to address chin-up posture. Chin-up posture improved from 24° ± 8° before surgery to 10.0° ± 8° postoperatively (P < 0.001). Three CFEOM1 patients developed exotropia after vertical muscle surgery alone; all had the R954W amino acid substitution. Postoperatively, 1 CFEOM1 patient developed a corneal ulcer. All CFEOM3 patients appeared to have underlying exposure keratopathy, successfully treated with prosthetic replacement of the ocular surface ecosystem (PROSE) lens in 2 patients. CONCLUSIONS: CFEOM is a complex strabismus disorder for which surgical management is difficult. Despite an aggressive surgical approach, multiple procedures may be necessary to achieve a desirable surgical effect. Knowledge of the underlying genetic diagnosis may help to inform surgical management.

Pulled into two syndrome (PITS) in a case of congenital fibrosis of the extraocular muscle.

A four-year-old child with a clinical diagnosis of unilateral congenital fibrosis of extraocular muscles (CFEOM) was planned for inferior and medial rectus muscle recession surgery, adjusted with the status of forced duction test. Due to pathological changes within the muscles subsequent to innervational abnormality, intraoperatively the inferior rectus muscle was pulled into two following the insertion of muscle hook. Moreover, the snapped muscle fibers could not be identified, thus further surgery was abandoned and an observation was commenced. At the end of 6 weeks, there was a significant reduction in the amount of hypotropia but clinically significant perverted convergence with esotropia necessitated further surgical intervention. A second surgical intervention consisting of medial rectus transposition to superior rectus with 3 mm recession was performed to achieve acceptable results in the primary gaze.

Surgical Management of Ophthalmoplegia.

Surgical management-depending upon the severity of the ophthalmoplegia-ranges from restorative to palliative. In paresis with reasonable residual muscle function and ductions, the goal of the surgery is not only to restore single vision in primary position but also to provide a relatively normal field of single binocular vision. With complete paralysis of a single muscle or more than one muscle served by a single cranial nerve (third), in addition to conventional recess or resect surgery, the transposition of still-functioning muscles is often needed to obtain a durable result and restore at least some field of single binocular vision. In complete ophthalmoplegia, the benefits of the surgery are limited; but even in these cases, surgery can often reduce the need for an awkward head posture and improve appearance.

Radiculopathy as unusual presentation of idiopathic intracranial hypertension: A case report.

BACKGROUND: Idiopathic intracranial hypertension (IIH) is a disorder of young obese females and characterized by headache, papilledema with raised intracranial pressure in the absence of known pathological cause. However, ophthalmoplegia is common presentation of IIH, limb weakness is rare and may led to misdiagnosis and poor outcome. CASE: We report female patient presented with acute onset of quadriparesis, headache and ophthalmoplegia, the fundus examination showed papilledema, the MRI brain showed no detectable abnormal finding.The intracranial pressure (ICP) was elevate. Nerve conduction study revealed sever radiculopathy. Our provisional diagnosis was fulminant idiopathic intracranial hypertension versus Gulliane Barre syndrome. The patient was submitted to CSF shunting which resulted in improvement of her symptoms. conclusion quadreparesis is a rare presentation of idiopathic intracranial hypertension, which may delay diagnosis and affect outcome. And urgent lumbo-peritoneal shunt was critical in saving patient vision and regaining ability to walk.

Ophthalmoplegia associated with lung adenocarcinoma in a patient with the Lambert-Eaton myasthenic syndrome: A case report.

RATIONALE: The Lambert-Eaton myasthenic syndrome (LEMS) is a neuromuscular disease; its unique symptoms of LEMS include dry mouth with a metallic taste, constipation, and erectile dysfunction. As it is quite rare, isolated ocular muscle impairment associated with LEMS east to ignore. PATIENT CONCERNS: A 65-year-old man presented with alternating ptosis and diplopia. Isolated ocular muscle impairment had lasted for 6 years, and the patient was initially diagnosed with ocular myasthenia gravis (MG). Treatment with azathioprine only slightly improved symptoms over the first 2 months; long-term treatment was not effective. DIAGNOSES: Dynamic observation of chest computed tomography images revealed a slowly progressing nodule in the lower lobe of the left lung. The subsequent pathologic examination following mass resection confirmed a diagnosis of lung adenocarcinoma. INTERVENTIONS: The patient was ultimately diagnosed with the Lambert-Eaton myasthenic syndrome associated with pulmonary adenocarcinoma. OUTCOMES: Resection of the lung tumor relieved all symptoms. LESSONS: Other causes of ocular MG symptoms should be considered when standard MG therapy is ineffective, especially the Lambert-Eaton myasthenic syndrome.

Surgical Treatment of Posttraumatic Ophthalmoplegia Through the Reconstruction of the Lateral Orbital Wall.

Orbital fractures are injuries frequently related to traumas of the midface. These fractures can be associated with ocular lesions, ranging from small abrasions on the cornea to serious complications such as hyphema and ocular globe rupture. Diplopia and ophthalmoplegia are common findings in orbital fractures. They can be caused by mechanical factors as bone fragments or muscle imprisonment. The aim of this study was to report a case of a 40-year patient, male showing diplopia and ophthalmoplegia due to the orbital fracture. The patient was treated by general anesthesia. It was performed a supra orbital approach and the fragments were removed. A titanium mesh to restore the orbital anatomy was installed. After 40 days of follow-up, the patient has no aesthetic or functional complaints. In orbital traumas, the ophthalmological evaluation should be performed carefully aiming to avoid ocular sequelaes. In surgical patients, the surgery should be done as early as the clinical conditions permit, to restore the ocular function.

Paralytic lagophthalmos syndrome in the plastic and maxillofacial surgeon practice. / Sindrom paraliticheskogo lagoftal'ma v praktike plasticheskogo i chelyustno-litsevogo khirurga.

OBJECTIVE: to identify and give an objective assessment of all changes in the periorbital region in paralysis orbicularis oculi muscle. METHODS: With physical, laboratory and instrumental methods of research, we analyzed the survey of 33 patients with paralytic lagophthalmos. This survey has allowed us to identify the symptoms of periorbital changes characteristic of paralysis orbicularis oculi involved in lagophthalmos development. RESULTS: After analyzing the results of a survey of 33 patients with paralytic lagophthalmos, we identified 15 symptoms of changes in the periorbital region. CONCLUSION: In our opinion, lagophthalmos should be considered as a syndrome, including certain symptom in a particular case. For adequate closure of the optic fissure and obtaining a good aesthetic result is necessary to simultaneously remove more of the symptoms.

Surgical planning and innervation in pontine gaze palsy with ipsilateral esotropia.

PURPOSE: To discuss surgical intervention strategies among patients with horizontal gaze palsy with concurrent esotropia. METHODS: Five consecutive patients with dorsal pontine lesions are presented. Each patient had horizontal gaze palsy with symptomatic diplopia as a consequence of esotropia in primary gaze and an anomalous head turn to attain single binocular vision. RESULTS: Clinical findings in the first 2 patients led us to presume there was complete loss of rectus muscle function from rectus muscle palsy. Based on this assumption, medial rectus recessions with simultaneous partial vertical muscle transposition (VRT) on the ipsilateral eye of the gaze palsy and recession-resection surgery on the contralateral eye were performed, resulting in significant motility limitation. Sequential recession-resection surgery without simultaneous VRT on the 3rd patient created an unexpected motility improvement to the side of gaze palsy, an observation differentiating rectus muscle palsy from paresis. Recession combined with VRT approach in the esotropic eye was abandoned on subsequent patients. Simultaneous recession-resection surgery without VRT in the next 2 patients resulted in alleviation of head postures, resolution of esotropia, and also substantial motility improvements to the ipsilateral hemifield of gaze palsy without limitations in adduction and vertical deviations. CONCLUSIONS: Ocular misalignment and abnormal head posture as a result of conjugate gaze palsy can be successfully treated by basic recession-resection surgery, with the advantage of increasing versions to the ipsilateral side of the gaze palsy. Improved motility after surgery presumably represents paresis, not "paralysis," with residual innervation in rectus muscles.