Leber’s Hereditary Optic Neuropathy Plus Causing Recurrent Myelopathy due to an MT-DN1 Mutation at G3635A

A 51-year-old man with known Leber’s hereditary optic neuropathy (LHON) presented with worsening lower extremity weakness and numbness. Following an episode of myelopathy two years before, he had been ambulating with a walker but over two weeks became wheelchair bound. He also developed a sensory level below the T4 dermatome to light touch, pinprick, and vibration. MRI of his cervical and thoracic spine showed a nonenhancing T2 hyperintense lesion extending from C2 to T12. At his presentation two years earlier, he was found to have a longitudinally extensive myelopathy attributed to his LHON. Genetic testing revealed a 3635 guanine to adenine mutation. MRI at that presentation demonstrated a C1-T10 lesion involving the central and posterior cord but, unlike the new lesion, did not involve the ventral and lateral horns. Given the similarity to his prior presentation and a negative evaluation for alternative etiologies, he was thought to have recurrent myelopathy secondary to Leber’s Plus. To our knowledge, recurrent myelopathy due specifically to the G3635A mutation in Leber’s Plus has not been reported previously.

Guillain-Barré Syndrome with Rapid Onset and Autonomic Dysfunction Following First Dose of Pfizer-BioNTech COVID-19 Vaccine: A Case Report

Guillain-Barre syndrome (GBS) is an immune-mediated, often post-infectious illness manifesting as an acute, characteristically monophasic, polyradiculoneuropathy. We present a case of GBS with autonomic involvement following an mRNA-based vaccine against SARS-COV2 (Pfizer/BioNTech mRNA-BNT162b2). A 58-year-old woman presented with fatigue, distal extremity paresthesias, and severe back pain within 3 days after receiving her first vaccine dose. She developed worsening back pain and paresthesias in distal extremities which prompted her initial presentation to the hospital. By the third week post-vaccine, she developed increasing gait unsteadiness, progression of paresthesias, and new autonomic symptoms including presyncopal episodes and constipation. Neurological exam showed bilateral distal predominant lower extremity weakness, decreased sensation in a length-dependent pattern, and areflexia. EMG/NCS showed a diffuse sensorimotor polyneuropathy with mixed demyelinating and axonal features consistent with GBS. She was treated with 2 g/kg of IVIG over 3 days and also received prednisone 60 mg daily for 3 days for severe back pain, with improvement of symptoms. This possible association with mRNA-based vaccination expands the potential triggers for an autoimmune-based attack on the peripheral nervous system.

An Adverse Case of Spinal Tumor Embolization with Gelfoam in a Patient Whose Vertebral Artery Has Shared Origin with Ipsilateral Costocervical Trunk

Tumor embolization is performed before surgical excision. The Gelfoam temporarily occludes the vessels supplying the tumor by facilitating thrombus formation. We report an adverse case of Gelfoam embolization in a patient with a certain vascular anatomy. A 75-year-old man previously diagnosed with lung cancer in 2015 was admitted to Korea University Guro Hospital. He had bilateral arm paresthesia and lower extremity weakness that had progressed for 2 weeks. Cervical spine magnetic resonance imaging revealed a metastatic pathologic fracture of the C6 vertebral body and subsequent cord compression. A C6 corpectomy was scheduled, and preoperative spinal tumor embolization was planned. Angiography revealed that the left deep cervical artery (DCA) and the ipsilateral vertebral artery shared origin. Two Nester coils were positioned at the right distal DCA, one at the left DCA, and two at the left proximal DCA. Gelfoam was infused in each location. However, the patient’s mental status worsened after the left DCA embolization. A diffusion-weighted image showed diffuse cytotoxic edema in the posterior circulation without significant lesions on magnetic resonance angiography. In Gelfoam embolization, special attention is required with neurological monitoring when maneuvering DCA if it has a nearby entrance with a vertebral artery.

Atypical Multiple Sclerosis Presenting as Bilateral Optic Neuritis

Purpose: We report a case of multiple sclerosis with bilateral optic neuritis that was atypical in terms of both the clinical signs and symptoms.Case summary: A 34-year-old female visited the department of neurology with a complaint of sudden-onset, left lower extremity weakness and numbness that had developed 3 weeks prior, and bilateral blurred vision that had commenced 2 weeks prior. The patient was diagnosed with multiple sclerosis and prescribed high-dose intravenous methylprednisolone for 3 days, but the blurred vision did not improve. The patient was referred to the ophthalmology department. The initial best-corrected visual acuity was 0.04 in both eyes, and the relative afferent pupillary defect test was positive for the left eye. The Ishihara color test scores were 1/17 for both eyes. No optic disc swelling was evident on fundus examination. Brain and spine magnetic resonance imaging (T2-weighted) performed during the initial visit revealed lesions of high signal intensity in the frontal, subcortical white matter; the optic chiasm; the left retrobulbar optic segment; the medulla; and the spinal C2-5 processes. Aquaproin-4 immunogloblin G antibody (AQP4-IgG Ab) was not detected in serum. One month after prescription of the oral steroid, the vision improved to 1.0 in the right and 0.8 in the left eye. The patient was lost to follow-up after prescription of interferon-beta for 4 years, without recurrence.Conclusions: Binocular optic neuritis accompanied by severe visual loss is a rare form of multiple sclerosis. A thorough diagnosis (with a focus on exclusion) is required, as is appropriate treatment.

Pearls & Oy-sters: Delayed Diagnosis of Acute Motor Axonal Neuropathy With Cardiac Arrest

We present the case of a 53-year-old female who presented with right lower extremity weakness with preceding systemic symptoms including fever and chest pain. She developed rapid quadriparesis over 24 hours and had ventricular fibrillation with cardiac arrest. Examination demonstrated tetraplegia, facial diplegia with spared extra-ocular movements and areflexia. Electrodiagnostic studies including nerve conduction studies and electromyography were consistent with Acute Motor Axonal Neuropathy (AMAN). This case highlights an atypical asymmetric presentation with initially preserved reflexes, rapid progression and cardiac dysfunction that can occur independent of dysautonomia. Treatment options include intravenous immunoglobulin (IVIg) or plasmapheresis as well as supportive care and long term multidisciplinary rehabilitation and communication strategies.

Spinal cord detethering without laminectomy or laminotomy

Background: Tethered cord syndrome occurs when there is abnormal tension on the distal spinal cord, which limits its elevation as patients grow. This results in stretching of the neural elements and microvasculature, resulting in both direct and ischemic injury.[7] Animal studies suggest that impairment of oxidative metabolic pathways may contribute to neuronal injury.[7] Associated conditions include myelomeningocele, lipomyelomeningocele, intraspinal lipomas, diastematomyelia, thickened/fatty filum terminale, and trauma.[2] Tethering may be asymptomatic or result in a variety of symptoms including lower extremity weakness/sensory deficits, bowel/bladder dysfunction, scoliosis, pes cavus, and back/leg pain.[6] Early surgical intervention has been shown to improve outcomes and may be performed prophylactically or to prevent symptom progression.[1,3] More specifically, retrospective studies demonstrate that surgical intervention in patients under the age of 2 years is associated with improved outcomes.[5] In some cases, detethering may result in clinical improvement.[3] Case Description: We present a case of a 6-month-old male with a low-lying conus medullaris, lumbar syrinx, mildly abnormal urodynamic studies, and asymmetric utilization of his lower extremities observed during the evaluation of a Y-shaped gluteal cleft. He underwent elective spinal cord detethering via the safe and effective, minimally invasive technique described in the video. The patient’s parents gave informed consent for treatment and video recording. Institutional review board approval was deemed unnecessary. Conclusion: Given the variety of surgical techniques used for cord detethering, this video may assist other surgeons in developing techniques that require little to no compromise of the developing bony spinal column while achieving sufficient release of the spinal cord.[4]

Vertebral Body Infarction after Transarterial Preoperative Embolization of a Vertebral Hemangioma

Background Vertebral hemangioma resection can be a real challenge for spine surgeons, given the high potential of massive intraoperative bleeding. For this reason, preoperative transarterial embolization of this tumor is supported by the available literature. Here, we discuss our difficulties in interpreting an unusual clinical and radiologic picture related to the endovascular procedure. Methods and Results A 45-year-old man was referred to our department due to chronic back pain and progressive lower extremity weakness. Radiologic assessment was obtained by means of spinal computed tomography (CT) and magnetic resonance imaging (MRI), which showed an aggressive vertebral hemangioma in T7, compressing the spinal cord. The patient underwent a combined therapeutic approach consisting of preoperative transarterial embolization followed by tumor resection, spinal cord decompression, and posterior thoracic arthrodesis. The patient was dismissed with neither strength nor sensory deficits. Two weeks later, he returned to our department with fever. A new MRI demonstrated multiple areas of altered signal in almost all vertebral bodies from T6 down to the sacrum. After a deep diagnostic process, including new MRI and infectious disease evaluations, the definitive diagnosis of multiple vertebral bone infarction was suggested. Conclusion Vertebral infarctions are an extremely rare complication of spinal endovascular procedures. To our knowledge, this is the first case of multiple postembolization vertebral infarctions, without spinal cord involvement. This peculiarity was explained by the presence of direct anastomoses between a posterior intercostal artery and the underlying vertebral bodies.

Primary spinal dorsal extramedullary germ cell tumor: A rare case report and literature review

Background: Primary spinal extramedullary germ cell tumor are very rare. Germ cell tumor are similar histologically to germ cells of genital organs and may arise rarely from central and peripheral nervous system. Case Description: We report a case of 20-year-old male who presented with progressive lower extremity weakness, spasticity, and numbness of legs. Patient was evaluated with magnetic resonance imaging dorsal spine which revealed extramedullary mass in dorsal (D2-D3) level with severe cord compression. Tumor was found to be extramedullary with histopathology consistent with germ cell tumor. Patient was given radiotherapy and chemotherapy postoperatively. Conclusion: Primary spinal extramedullary germ cell tumors are very rare and are very sensitive to radiation and chemotherapy. Various management and treatment protocols are available across institutions in the world. We recommend adequate decompression of cord with biopsy followed by local radiation and chemotherapy. As these are rare tumors, presenting with significant neurological deficits should always be kept in the differential diagnosis.

A Case of Guillain-Barré Syndrome as the First Presentation of Systemic Lupus Erythematosus

Introduction: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with different clinical manifestations. Acute [resembling Guillain-Barré syndrome (GBS)] or chronic (chronic inflammatory demyelinating polyradiculoneuropathy) inflammatory polyradiculoneuropathy has been reported in rare SLE cases. Case Presentation: We reported a 39-year-old woman that presented with acute peripheral neuropathy, and she was eventually diagnosed with SLE. She developed distal numbness and paraesthesia followed by progressive upper and lower extremity weakness and difficulty in swallowing and speaking. She had a history of flu-like illness three weeks before to symptoms. Conclusions: Progressive upper and lower extremity weakness along with areflexia and electrodiagnostic findings suggested the diagnosis of Guillain-Barré syndrome. Over a month, significant neurological recovery occurred, and the patient's function continued to recover.

Deep venous thrombosis in an individual with statin-exposed anti-SRP myopathy: case report and review of literature

Background Immune-mediated necrotizing myopathy (IMNM) is characterized by proximal muscle weakness, elvated serum muscle enzyme levels, myopathic electromyography findings, and necrotic muscle fiber with few inflammatory cell infiltration in muscle biopsies. Statins, the first line drug to lower triglyceride and cholesterol level in blood, have been reported to be associated with statins-induced necrotizing autoimmune myopathy (SINAM). Although anti-3-hydroxy-3-methylglutarylcoenzyme-A reductase (anti-HMGCR) myopathy is considered as the leading myopathy related to the statins medication, anti-signal recognition particle (SRP) myopathy were also identified in several cases with statin exposure. The risk of deep venous thrombosis (DVT) is substantially high in individuals with autoimmune inflammatory diseases. But few studies have reported the occurrence and recommendation for treatment of DVT in patients with anti-SRP myopathy. Here, we reported a statin-exposed anti-SRP myopathy individual developed DVT who was successfully treated with catheter-directed thrombolysis (CDT) and systemic anticoagulants therapy. Case presentation A 56-year-old Chinese female came to the outpatient room with gradually progressive bilateral lower-extremity weakness. Magnetic resonance imaging revealed myopathy in bilateral thighs. Serum anti-SRP antibody was positive. She was diagnosed with anti-SRP myopathy. When treated with corticosteroids and immunosuppressants, the patient developed mild edema and pain of left lower extremity. Angiography and ultrasound revealed diffuse venous thrombosis of left lower extremity. Therapy was initiated with CDT and lower molecular weight heparin, then switched to once daily oral rivaroxaban. Meanwhile, steroids combined with tacrolimus were also carried on while simvastatin was discontinued. One month later, patient’s symptoms were resolved and only partial thrombosis in left femoral vein was remained. Conclusion The prevalence of DVT in patient with anti-SRP myopathy was rare. No well-established treatment strategy is available to manage the IMNM and DVT at the same time. The systemic anticoagulants therapy combined CDT can be an effective therapeutic approach to address extensive DVT in patient with anti-SRP myopathy.