An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome.

Crouzon Syndrome is a genetic craniosynostosis disorder associated with a high risk of ophthalmologic sequelae secondary to structural causes. However, ophthalmologic disorders due to intrinsic nerve aberrations in Crouzon Syndrome have not been described. Optic pathway gliomas (OPGs) are low grade gliomas that are intrinsic to the visual pathway, frequently associated with Neurofibromatosis type 1 (NF-1). OPGs involving both optic nerves without affecting the optic chiasm are rarely seen outside of NF-1. We report an unusual case of bilateral optic nerve glioma without chiasmatic involvement in a 17-month-old male patient with Crouzon Syndrome without any clinical or genetic findings of NF-1. This case suggests that close ophthalmologic follow up and orbital MRIs may benefit patients with Crouzon Syndrome.

Split-Tendon Medial Transposition of Lateral Rectus for Pediatric Complete Oculomotor Palsy.

BACKGROUND: Split-tendon medial transposition of lateral rectus (STMTLR) for complete oculomotor palsy can correct large angles of exotropia in adults, but outcomes are variable, and complications are frequent. Only a few pediatric cases have been reported, and further insight is needed to assess the child's alignment outcomes and ability for postsurgical gain of function. The aim of our study is to report the outcomes of this surgical procedure in pediatric cases of complete oculomotor palsy. METHODS: A retrospective review of outcomes was conducted on 5 consecutive patients with complete oculomotor palsy treated with STMTLR by a single surgeon (V.S.S.) between 2015 and 2021 at tertiary referral centers. Primary outcome was postoperative horizontal alignment, and secondary outcome was demonstration of gain-of-function activity in the field of action of the paretic medial rectus muscle. RESULTS: Five cases of pediatric complete oculomotor palsy underwent surgical treatment with STMTLR. Subjects averaged 5.3 years old (range 10 months-16 years). Two were female. Etiologies were heterogeneous, and all presented with unilateral (n = 2) or bilateral complete oculomotor palsy with exodeviations ranging from 45 to >120 prism diopters. Two subjects had bilateral disease secondary to military tuberculosis with CNS involvement. A third subject presented iatrogenically with complete bilateral third nerve palsies secondary to removal of a nongerminomatous germ cell tumor (NGGCT) of the pineal gland. The 2 remaining subjects had monocular involvement in their right eye, 1 from compressive neuropathy after a cavernoma midbrain hemorrhage, and 1 from a congenital right oculomotor palsy. All patients were observed to have stable ocular alignment for a period of at least 6 months before surgery. Unilateral STMTLR was performed in all cases except the subject with NGGCT, in which bilateral STMTLR was performed. Measurement of alignment permanence out to 1-3 years postop resulted in an average correction of 40.83 prism diopters (range 37.5-45 prism diopters) per operated eye. Four of 5 subjects regained limited but active adduction eye movements, and the 2 unilateral cases demonstrated improved convergence. None of the subjects experienced significant complications. CONCLUSIONS: STMTLR was a safe and effective approach for the surgical correction of complete pediatric oculomotor palsy in our case series. In addition, pediatric patients may benefit from STMTLR with immediate gain-of-function activity in the transposed lateral rectus muscle, which supports the hypothesis that children have a dynamic and adaptive neuroplasticity of visual target selection that predominates established agonist/antagonist neural signaling.

Pediatric autoimmune retinopathy and optic neuropathy: a case report and a review of the literature.

Purpose: The purpose of the study was to present a rare case of pediatric bilateral optic neuropathy and retinopathy, which was consistent with a diagnosis of autoimmune retinopathy. We also reviewed the most current literature and phenotypes associated with reported pediatric cases of autoimmune retinopathy. Design: The design of the study was a case report, with a retrospective case series literature review. Subjects: This study incorporated data from six subjects, with one presenting as an original case report and five being identified from the English-language literature published to date. Materials and methods: The materials and methods involved a descriptive analysis of fundus findings, electrophysiologic testing, serum autoantibody testing, optical coherence tomography (OCT), brain MRI scanning, and fluorescein angiography, which were performed where available. Main outcome measures: The study evaluated the clinical presentation and treatment outcomes of all subjects and followed their visual function over time. Results: All six subjects had retinal abnormalities that were documented on imaging, while five out of the six subjects had optic nerve abnormalities. Electrophysiologic testing was performed on three subjects, all of whom recorded abnormal results. An underlying neoplastic disorder was described for four subjects. Serum autoantibody testing results were available for four subjects. The serum testing included using antibodies against a 22-kDa antigen, a 35-kDa optic nerve-derived antigen, a 62-kDa antigen, enolase, recoverin, tubulin, and pyruvate kinase M2. Our subject presented 12 years after resection of a ganglioglioma with asymmetric bilateral vision loss, disc edema in one eye, advanced disc pallor in the fellow eye, and bilateral subtle retinal infiltrates, despite having a normal fluorescein angiogram. OCT demonstrated asymmetric ganglion cell layer thinning, which is consistent with the vision loss. Our subject also had abnormal brain MRI findings of widespread pachymeningeal enhancement, but he had a normal cerebrospinal fluid composition. He was initially treated with high-dose pulse steroids, followed by intravenous immunoglobulin therapy. He experienced partial visual recovery in both eyes. Conclusions: Pediatric autoimmune retinopathy and optic neuropathy are rare diseases that can present with unique signs and symptoms. In pediatric patients who present with symptoms of subacute progressive vision loss with negative inflammatory workups, a history of prior neoplasm, and/or clinical findings of progressive retinopathy or optic neuropathy, an autoimmune process should be considered in the differential.

Early radiotherapy preserves vision in sporadic optic pathway glioma.

BACKGROUND: Sporadic optic pathway/hypothalamic gliomas represent a unique entity within pediatric low-grade glioma. Despite favorable survival, location makes treatment difficult and local progression debilitating. This study is a longitudinal assessment of visual acuity (VA) among children treated within the last 2 decades. METHODS: Clinical characteristics were abstracted for patients treated from 2000 to 2018 at Texas Children's Cancer Center in Houston. Ophthalmologic data taken at 3- to 6-month intervals were examined with age-appropriate VA metrics converted to the LogMAR (logarithm of the minimum angle of resolution) scale. Kaplan-Meier blindness-free survival (BFS) curves, calculated as time-to-bilateral functional blindness (LogMAR ≥0.8 in both eyes), were calculated for patients receiving early radiation therapy (RT; upfront or as first-line salvage treatment) or chemotherapy (CT) and evaluated using the log-rank test. RESULTS: Thirty-eight patients with a median follow-up of 8.5 years (range, 2-17 years) were identified. Median age at diagnosis was 3 years (interquartile range, <1-6 years). Early RT was administered in 11 patients (29%). Twenty-seven patients (71%) were treated primarily with CT, initiated at a median age of 3.5 years (range, <1-11 years). Eight patients in the CT group did eventually require RT secondary to VA loss and following multiple lines of CT. Median age at RT for all patients was 11 years (range, 3-17 years). BFS rates were 81% at 5 years and 60% at 8 years for CT and 100% at 5 and 8 years for early RT (P = .017). CONCLUSIONS: In a contemporary cohort, early RT, defined as initial or first-line salvage therapy, was found to have superior BFS for appropriately selected patients with sporadic optic pathway/hypothalamic gliomas. LAY SUMMARY: Children with low-grade brain tumors of the optic pathway generally have excellent long-term survival; however, given the location of these tumors, there can commonly be threatened vision if the tumor grows. Although radiation is generally deferred in children on the basis of legitimate concerns regarding the effects on the developing brain, it may represent a vision-preserving therapy for well-selected older patients.

Pediatric Autoimmune Ocular Myasthenia Gravis: Evaluation of Presentation and Treatment Outcomes in a Large Cohort.

BACKGROUND: In autoimmune myasthenia gravis (MG), autoantibodies target the neuromuscular junction. Ocular myasthenia gravis (OMG) is localized, affecting only extraocular and/or levator palpebrae muscles. OMG presents across all ages, varying in presentation, treatment modalities, and outcomes. Recently, there have been advances in MG/OMG treatment; their utilization and effectiveness are an important part of optimal disease management. METHODS: We completed a retrospective chart review of children aged 18 years or younger with a confirmed diagnosis of OMG presenting from 2002 to 2019. RESULTS: Forty-two patients were included with mean age at presentation of 8.5 years (2 to 18 years). Twenty-one patients (50%) had positive antibodies; 90% had acetylcholine receptor antibodies. Ten patients developed generalized symptoms with mean time to generalization of 13.6 months. Multiple logistic regression showed that older age of onset was a trend predictive factor (P = 0.054; odds ratio 1.17) for generalized disease. All patients were treated with pyridostigmine. Immunomodulating agents included steroids (15), mycophenolate mofetil (four), and intravenous immunoglobulin (one). Three patients underwent thymectomy. Twenty patients reached minimal manifestation status, and 12 achieved remission. Gender, race, and positive antibody status were not statistically significant predictors for advanced immunosuppressive therapy. CONCLUSIONS: We summarize one of the largest cohorts of pediatric patients with OMG who have undergone up-to-date diagnostic and therapeutic regimens. The predictors of outcome and treatment pathway for OMG patients suggested by this report may be further elucidated by future prospective studies.

Double Vision and Gait Ataxia in an Immunocompetent 9-Year-Old Girl With Intracranial Phaeohyphomycosis.

ABSTRACT: A 9-year-old girl presented with morning headaches associated with vomiting, gait ataxia, and facial and ocular motor nerve palsies. Her initial imaging was concerning for demyelinating disease. After extensive infectious and rheumatologic workup returned negative, she was treated twice with intravenous immunoglobulin and intravenous steroids with near-complete resolution each time. She returned, however, with worsening neurologic deficits and imaging revealing focal ischemic infarction in the brainstem as well as new-onset hydrocephalus. A multispecialty workup was initiated without conclusive diagnosis. A novel, noninvasive test for plasma cell-free DNA established a diagnosis of Cladophialophora bantiana that was confirmed and validated by a brain biopsy taken during a clinical decompensation. Treatment was initiated with systemic voriconazole and intraventricular amphotericin B.

Malignant optic nerve glioma in a young woman with 7 year follow up without recurrence.

PURPOSE: To report diagnostic and management challenges of a case of WHO Grade III glioma of the optic nerve occurring in an unusually young patient with more than 7 years of survival without recurrence. OBSERVATIONS: An 18-year-old woman reported rapidly progressive vision loss in the right eye in the setting of a right optic nerve lesion, central retinal artery occlusion, central retinal vein occlusion, and neovascularization of the optic disc. An orbital MRI with contrast demonstrated enhancement of the intraocular, intraorbital, and intracanalicular portion of the right optic nerve. Biopsy of a portion of the intraorbital optic nerve was negative, however, biopsy of the intracranial optic nerve confirmed WHO Grade III glioma (anaplastic astrocytoma). Although the tumor was excised, there remained positive margins at the optic chiasm. The patient was then managed with a combination of radiation and temozolomide. Postoperatively, the initial neovascularization of the optic nerve that had resolved, re-emerged with gliosis. In this setting a concern for intraorbital tumor arose and the globe was enucleated, definitively ruling out neoplasm. The patient has remained tumor free seven years after resection. CONCLUSIONS AND IMPORTANCE: Malignant optic pathway glioma is rare and carries a high 5-year mortality rate. Diagnosis can be elusive given orbital MRI with contrast often appears to be non-specific. Inflammatory changes can be confounding such that a biopsy in the respective area will yield a negative pathologic result. Repeat biopsy is recommended if clinical suspicion is high. Combination treatment of optic nerve tumor resection, temozolomide and radiation has been effective in treating this patient who continues to be followed closely and has had no clinical or radiographic evidence of recurrence in over 7 years. The re-emergence of neovascularization with gliosis/fibrosis of the optic nerve, was driven by ischemia and further precipitated by radiation. To our knowledge this patient represents the youngest reported case of malignant optic nerve glioma with the longest reported survival in the literature to date (over seven years).

Five-Year-Old Boy With Behavioral Changes and Papilledema.

A 5-year-old boy had initial symptoms of behavioral changes, nausea, vomiting, headache, weight loss, and progressive vision failure. Brain MRI revealed abnormal signal intensity in both optic nerves, the optic chiasm, the right medial temporal lobe, and tissues surrounding the right supraclinoid internal carotid artery with associated leptomeningeal and spinal cord enhancement. After nondiagnostic dural and spinal arachnoid biopsies, a temporal lobe biopsy was diagnostic for a rare malignant peripheral nerve sheath tumor.

Systemic Amyloidosis and Extraocular Muscle Deposition.

Isolated amyloid deposition in an extraocular muscle is a rare event but can be a presenting feature of systemic amyloidosis. A 67-year-old woman with an acquired exotropia and hypertropia was found to have unilateral diffuse extraocular muscle enlargement on magnetic resonance imaging. Owing to the progressive nature of her strabismus and the negative laboratory testing for thyroid disease, she underwent an extraocular muscle biopsy that revealed amyloid deposition. Further workup demonstrated a monoclonal gammopathy consistent with systemic amyloidosis. This case demonstrates the need to consider amyloidosis in the differential diagnosis of patients presenting with an atypical acquired strabismus. We review other reports of isolated amyloid deposition in extraocular muscles and its association with systemic amyloidosis, emphasizing the importance of the ophthalmologist in the early recognition of this disease to prevent irreversible, life-threatening end organ damage.