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 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.

Diffusion Tensor Imaging Tractography Detecting Isolated Oculomotor Paralysis Caused by Pituitary Apoplexy.

OBJECTIVES: Pituitary apoplexy (PA)-induced oculomotor palsy, although rare, can be caused by compression on the lateral wall of the cavernous sinus. This study aimed to visualize PA-induced oculomotor nerve damage using diffusion tensor imaging (DTI) tractography. MATERIALS AND METHODS: We enrolled 5 patients with PA-induced isolated oculomotor palsy (patient group) and 10 healthy participants (control group); all underwent DTI tractography preoperatively. Fractional anisotropy (FA) and mean diffusion (MD) values of the cisternal portion of the bilateral oculomotor nerve were measured. DTI tractography was repeated after the recovery of oculomotor palsy. RESULTS: While no statistical difference was observed in FA and MD values of the bilateral oculomotor nerve in the control group (P>0.05), the oculomotor nerve on the affected side was disrupted in the patient group, with a statistical difference in FA and MD values of the bilateral oculomotor nerve (P<0.01). After the recovery of oculomotor palsy, the FA value of the oculomotor nerve on the affected side increased, whereas the MD value decreased (P<0.01). Meanwhile, no significant difference was observed in FA and MD values of the bilateral oculomotor nerve (P>0.05). DTI tractography of the oculomotor nerve on the affected side revealed restoration of integrity. Furthermore, the symptoms of oculomotor palsy improved in all patients 7 days postoperatively. CONCLUSION: DTI tractography could be a helpful adjunct to the standard clinical and paraclinical ophthalmoplegia examinations in patients with PA; thus, this study establishes the feasibility of DTI tractography in this specific clinical setting.

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.].

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.

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.

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.

Congenital fibrosis of the extraocular muscles: review of recent literature.

PURPOSE OF REVIEW: Congenital fibrosis of the extraocular muscles (CFEOM) is caused by abnormal development of the innervation of extraocular muscles. We update the recent literature regarding the clinical, anatomic, genetic, and molecular characteristics of CFEOM. Surgical considerations are addressed. RECENT FINDINGS: CFEOM is broken down into three main subtypes, CFEOM1, CFEOM2, and CFEOM3. Several recent reports of individuals, as well as family pedigrees, highlight the phenotypic heterogeneity of CFEOM. Intracranial and intraorbital radiologic findings have enhanced our understanding of the disease pathophysiology. Molecular genetics research has increased our understanding of the development of extraocular muscles and their innervation as well as pathophysiology of CFEOM. SUMMARY: Our understanding of the pathophysiology of CFEOM has increased with the recent contributions from neuroimaging, molecular genetics, and pedigree analysis. Surgical management of patients with CFEOM continues to be challenging.

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.

Outcome of inferior oblique disinsertion versus myectomy in the surgical treatment of unilateral congenital superior oblique palsy.

PURPOSE: To compare the outcome of inferior oblique disinsertion and myectomy in patients with unilateral congenital superior oblique palsy. METHODS: In this prospective study, consecutive patients with superior oblique palsy underwent either myectomy or disinsertion of the inferior oblique muscle. Success was defined as postoperative hypertropia of ≤5Δ in primary position and no hypotropia. In cases with preoperative hypertropia of ≤5Δ, success was defined as improved hypertropia and resolution of abnormal head position (AHP). RESULTS: A total of 62 patients were included: 34 underwent myectomy; 28, disinsertion. Preoperative primary position hypertropia was 15.8Δ ± 7.4Δ in the myectomy group and 14.5Δ ± 7.3Δ in the disinsertion (P = 0.756). AHP was present in 85.3% and 85.7% of patients, respectively (P = 1). Mean follow-up was in the myectomy group 7.5 ± 6.7 months and 6.9 ± 3.0 months in the disinsertion group (P = 0.637). Correction of hypertropia in primary position was more pronounced in the myectomy group (14.3Δ ± 7.4Δ vs 10.0Δ ± 5.4Δ; P = 0.013). Success was achieved in 91.2% of myectomy and 60.7% of disinsertion patients (P = 0.006). Persistence of AHP did not differ between groups (8.8% in the myectomy group vs 7.1% in the disinsertion group [P = 1]). Comparison of patients with preoperative hypertropia of ≤15Δ revealed nonsignificant differences between groups in rate of success (100% vs 81.3% [P = 0.226]) and correction of primary position hypertropia (8.8Δ ± 3.2Δ vs 7.6Δ ± 4.0Δ [P = 0.336]). CONCLUSIONS: In our study cohort, inferior oblique myectomy had a greater effect in reduction of primary position hypertropia; however, disinsertion proved as effective as myectomy if preoperative vertical deviation was ≤15Δ. Both procedures effectively corrected AHP and demonstrated self-adjustment.

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.