A Toddler with Juvenile Ocular Myasthenia Gravis: Clinical Experience

Background:Myasthenia gravis is an extremely rare autoimmune disorder affecting the neuromuscular junction. The incidence rate is 0.9-2.0 cases per 1 million children per year.Ocular myasthenia gravispresents as ptosis with extraocular motility restriction and is prone to be misdiagnosed as third nerve palsy and is difficult to diagnose in very young children. Case: A girl aged 2 years 6 months with clinical features with bilateral ptosis and was diagnosed as juvenile ocular myastenia gravis based on history, physical examination and other diagnostic proceduressuch as chest X-raywithin normal limit and no thymoma, the ice test showed positive result, electromyography (EMG) showed decrement response >10%,progstigmin test showed positive result, andserum acetylcholine receptor antibody levels was 0.43 nmol/L (reference range : positive as >0.40 nmol/L). Conclusion:Juvenile ocular myastenia gravis diagnostics can be established using simple examinations such as ice tests,prostigmin test to sophisticated examinations as systemic acetylcholinesterase antibodies. Management begins with a first-line drug, pyridostigmine, that is safe and effective. Disease monitoring and looking for etiology are very important for successful treatment.

BRMP-03. Pituitary carcinoma: a case of dramatic response to immunotherapy (ipilimumab + nivolumab) after failure with temozolomide

INTRODUCTION Pituitary carcinoma (PC) accounts for just 0.1% of all pituitary tumors, often recurs following resection, and has a median reported survival of 1 year. Current treatment guidelines are not standardized but combine surgical resection, radiation therapy, and chemotherapy [1]. Temozolomide is the only chemotherapeutic with documented effectiveness, and the only recommended agent for aggressive pituitary carcinomas in ESE clinical guidelines [3]. CASE: A 57-year-old male presented with visual deterioration over a three-month period. Ophthalmologic evaluation revealed bitemporal visual field deficits. MRI brain W/WO demonstrated a sellar mass suspected to be pituitary macroadenoma with displacement of the stalk and optic nerve impingement (Figure 1a). The patient underwent stereotactic endoscopic transsphenoidal resection of the mass [2]. Postoperative MRI demonstrated gross total resection (Figure 1b). Pathology revealed a sparsely granulated corticotroph-adenoma with malignant transformation (early in-situ PC). Immunohistochemistry showed LOE of MLH1 and PMS2 in the tumor cells; Genetic analysis revealed MGMT methylation. Proton therapy was recommended given the elevated Ki67 index (75%) and p53 positivity. Before radiotherapy, there was no evidence of residual tumor or metastasis radiographically. He received 6600cGy of radiation over 33 fractions. Surveillance MRI showed recurrence at 21 months postoperatively, and temozolomide was initiated. However, MRI demonstrated marked progression after 3 cycles, and at 44 months, he developed a new 6th nerve palsy (Figure1c). Next-generation sequencing using the MSK-IMPACT platform identified somatic mutations in MLH1 Y548lfs*9 and TP53 R337C[4]. Immunotherapy with ipilimumab/nivolumab was initiated [5], and the patient noted resolution of his third nerve palsy soon after. MRI demonstrated a dramatic response with only minimal residual tumor burden (Figure1d). CONCLUSION PC is a rare tumor with frequent recurrence and a short median expected length of survival. Here we demonstrate the utility of immunotherapy in a single case report of PC. This treatment helped our patient survive well beyond the expected median life expectancy of this aggressive disease.

Abstract 1122‐000097: Recurrent Carotid Cavernous Fistula Requiring Complex Repair of Ruptured Cavernous Carotid Aneurysm: A Case Report

Introduction : There are no studies investigating the safety and efficacy of covered stent grafts, particularly the newly developed stents such as the PK Papyrus stent, for endovascular treatment of direct carotid cavernous fistulas (CCFs). Methods : We present a case of a 75‐year‐old female who presented to the hospital with a three‐week history of worsening left eye vision, chemosis, proptosis, and partial third nerve palsy. Patient was found to have left direct Type A CCF secondary to ruptured cavernous segment carotid aneurysm. Results : The CCF was treated with coil embolization and pipeline Shield stent embolization devices with immediate stagnation and improvement of symptoms. Patient had history of an aortic mechanical valve and thus was started on warfarin and ASA. After achieving INR level of 2.5‐3.5, patient started to have recurrent swelling of the left eye associated and decreased visual acuity. Repeated diagnostic cerebral angiogram revealed residual CCF. Onyx liquid embolization and a Surpass Evolve Flow Diverter were attempted to slow the fistulization with no success. Multiple attempts for direct percutaneous superior ophthalmic vein cannulation were also unsuccessful. At this point, two coronary graft‐covered PK Papyrus stents were implanted across the fistula pouch, which resulted in immediate resolution of the CCF with evidence of persistent normal flow within left ophthalmic artery. Patient’s visual acuity and left eye movement improved. Conclusions : This case report highlights the effectiveness and safety of covered stent grafts, particularly more flexible stents such as the PK Papyrus stent, in navigating the carotid vasculature and closing direct CCFs and may be used as a first‐line technique. More large‐scale studies are warranted to investigate the safety and efficacy of using such stent grafts to treat direct CCFs in the setting of antithrombotic agents and anticoagulation.

P.156 Outcomes of Cranial Nerve Deficits in Patients with Pituitary Apoplexy: The Ottawa Hospital Experience

Background: One of the rare but urgent presentations of a pituitary tumor is pituitary apoplexy. In this case series, we describe our experience regarding the cranial nerve recovery in patients with pituitary apoplexy following endoscopic endonasal transsphenoidal surgery (EETS). Methods: Retrospective cohort study with patient characteristics, tumor type, endocrine data, operation data collected. Postoperative data were extracted for the follow-up period available for each patient. Results: 15 pituitary apoplexy cases were identified. The cranial nerve deficits presented at admission were: visual deficit (33% patients); unilateral third nerve palsy (47% patients), unilateral sixth nerve palsy (27% patients). Postoperatively, 60% of patients with preoperative visual deficit had normal visual fields and the other 40% showed improvement. From those with oculomotor nerve dysfunction preoperatively, 43% have returned to normal nerve function and 57% presented improvement. 75% cases of abducens nerve palsy resolved postoperatively, while 25% showed improvement. Conclusions: Based on this series, surgical treatment should be offered to patients presenting with cranial nerve deficit in the setting of pituitary apoplexy. In this series, all cranial nerve deficits either returned to normal or improved following surgery. Though a small series, the presented results are superior to those reported in the literature for conservative management.

Recurrent painful ophthalmoplegic neuropathy: a cause for recurrent third nerve palsy in a child

Recurrent painful ophthalmoplegic neuropathy (RPON), previously called ophthalmoplegic migraine, is a rare condition characterised by recurrent episodes of headache and ophthalmoplegia. We report a case of 11-year-old girl with recurrent painful ophthalmoplegia due to isolated right oculomotor nerve involvement. MR brain imaging showed enhancing lesion of cisternal segment of right oculomotor nerve. A possibility of Tolosa Hunt syndrome was considered and she was treated with glucocorticoids, followed by azathioprine due to recurrence. In the fourth episode, she developed migraine headache followed by right third nerve palsy, after which the diagnosis was revised to RPON. She was started on flunarizine along with short-term glucocorticoids. At 1-year follow-up, she remained asymptomatic. RPON should be considered in patients with recurrent third nerve palsy to avoid inadvertent long-term exposure to immunosuppressive agents.

Rare presentation of sarcoidosis with optic neuropathy and third nerve palsy

Sarcoidosis is a systemic, idiopathic and granulomatous disease, which most commonly affects the skin, lungs and lymph nodes but can affect virtually any organ. Neurosarcoidosis can be the presenting or the only clinical manifestation accounting for 5%–15% of sarcoid diagnoses. In contrast to uveitis which is the most common ophthalmic manifestation, neuro-ophthalmic signs are uncommon in sarcoidosis. Optic neuropathy is the most common neuro-ophthalmic sign (70% in one series). Sarcoid-related optic neuropathy commonly presents with a picture similar to optic neuritis. Less commonly, optic nerve involvement occurs secondary to compressive lesions, or from direct granulomatous infiltration. Neuroimaging is crucial to identify the location of the lesion. We describe a case of sarcoid-related compressive optic neuropathy and third nerve palsy and highlight the challenging nature of neurosarcoidosis in a patient without a prior diagnosis of the disease.

Novel Direct Superior Ophthalmic Vein Approach to Treat Anterior Condylar Confluence Dural Arteriovenous Fistula

Dural arteriovenous fistulas (DAVFs) are acquired pathological arteriovenous connections involving vessels that usually supply the meninges. A DAVF in the region of the hypoglossal canal is a rare form of fistula that involves the anterior condylar confluence or anterior condylar vein. We report a case of hypoglossal canal DAVF that was successfully embolized transvenously through a superior ophthalmic vein (SOV) approach. After failed attempts through jugular access, our patient was treated by a unique percutaneous direct puncture approach through the SOV, achieving complete obliteration of the fistula. A step-by-step description of the endovascular technique was described. The clinical course was uneventful without any new neurologic deficit. The eye symptoms and third nerve palsy had completely resolved at the 3-month follow-up visit. Hypoglossal canal DAVFs are rare and may exhibit complex venous drainage patterns. Knowledge of the complex venous anatomy is essential for planning an alternative transvenous route if the standard approach is not feasible. Xper CT (Philips Healthcare, Best, The Netherlands) is an excellent tool for identifying the exact site of the fistula as well as for confirming a safe position of the catheter tip for successful occlusion of this complex dural AV fistula.

Ice Pack Test Eased Ptosis in a Patient Presenting with a Possible Oculomotor Nerve Schwannoma: A Case Report

A 32-year-old man presented with complete third nerve palsy. Brain magnetic resonance imaging revealed a possible sporadic oculomotor nerve schwannoma in the left cavernous sinus. Interestingly, the patient’s ptosis was fluctuating and eased immediately after application of ice over his eyelid. The ice pack test (IPT) is a simple and fast method that can help diagnose myasthenia gravis (MG) in patients with ptosis. Additional diagnostic investigations (antibody assays and repetitive stimulation) excluded associated MG in the patient. Tumor treatment with Gamma Knife radiosurgery was planned. This case highlights the finding that IPT can also be positive in neurogenic (non-myasthenic) ptosis, but its usefulness in other disorders associated with muscle weakness and fatigability remains questionable.

Transcranial approaches for pituitary adenomas: current indications and clinical and radiological outcomes

Background The indications of transcranial approaches for pituitary adenomas have declined in the last decades with the widespread performance of endoscopic transsphenoidal approaches. The aim of the study was to review the current indications of transcranial approaches for pituitary adenomas and to evaluate the clinical and radiological outcome following these approaches. Patients and methods This study included 16 patients with fresh, residual, or recurrent pituitary adenomas operated upon by transcranial approaches alone or in combination with transsphenoidal approaches. The indication to perform a transcranial approach was reviewed for each patient. Postoperative clinical outcome and the extent of tumor resection were assessed. Results The indications of transcranial approaches were significant parasellar and/or anterior fossa extensions in 6 patients, failed previous transsphenoidal surgery in 3 patients, giant adenoma extending into the third ventricle in 3 patients, dumbbell-shaped adenoma in 2 patients, and doubtful diagnosis in 2 patients. Two patients with invasive giant adenomas were operated upon by a combined approach. There was a single mortality. Permanent complications included visual loss in one patient, third nerve palsy in one patient, hypopituitarism in two patients, and permanent diabetes insipidus in two patients. Gross total resection was achieved in one patient, subtotal resection in seven patients, and partial resection in eight patients. Conclusion Transcranial approaches are still needed for some complex pituitary adenomas particularly giant tumors with significant lateral, anterior, or superior extensions, tumors with fibrous consistency particularly after failure of transsphenoidal approach, and dumbbell-shaped tumors with severe constriction at the diaphragm.