Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory demyelinating autoimmune disease of central nervous system characterized by relapsing attacks that target the optic nerves and spinal cord, as well as aquaporin-4 (AQP4) enriched periventricular brain regions. The area postrema (AP), located in the dorsal medulla, is the chemosensitive vomiting center and has high AQP-4 expression. The AP syndrome with unexplained hiccups, nausea, and vomiting is one of the core clinical characteristics in the NMOSD and maybe the first presenting symptom. We experienced a 25-year-old woman presented with intractable vomiting, dizziness and oscillopsia. Upbeat nystagmus detected on the bedside examination led to comprehensive neurological workups including magnetic resonance imaging, and she was diagnosed as the AP syndrome. Ten months later, she experienced a recurrence as a longitudinally extensive transverse myelitis and the diagnosis was finally compatible with NMOSD without AQP4-IgG. NMOSD, especially the AP syndrome, should be considered in any dizzy patient with intractable vomiting, and detailed neuro-otologic and neuro-ophthalmologic examinations are warranted for the correct diagnosis.
Adult ; Area Postrema ; Autoimmune Diseases ; Brain ; Central Nervous System ; Diagnosis ; Dizziness ; Female ; Hiccup ; Humans ; Magnetic Resonance Imaging ; Myelitis, Transverse ; Nausea ; Neuromyelitis Optica ; Nystagmus, Pathologic ; Optic Nerve ; Recurrence ; Spinal Cord ; Vomiting

PURPOSE: To investigate the types and clinical features of neurological diseases after head trauma. METHODS: From March 2010 to December 2018, a total of 177 patients were enrolled in this study. We retrospectively reviewed the clinical features of neurological ophthalmic diagnoses and frequencies, the types of head injuries, and the prognoses. RESULTS: Cranial nerve palsy was the most common (n = 63, 35.6%), followed by traumatic optic neuropathy (n = 45, 25.4%), followed by optic disc deficiency, ipsilateral visual field defect, Nystagmus, skewing, ocular muscle paralysis between nuclei, and Terson syndrome. Neuro-ophthalmic deficits occurred in relatively strong traumas accompanied by intracranial hemorrhage or skull fracture. However, convergence insufficiency and decompensated phoria occurred in relatively weak trauma such as concussion. The prognoses of the diseases were poor (p < 0.05) for traumatic optic neuropathies and visual field defects. The prognoses of neurological diseases were poor if accompanied by intracranial hemorrhages or skull fractures (p < 0.05). CONCLUSIONS: After head trauma, various neuro-ophthalmic diseases can occur. The prognosis may differ depending on the type of the disease, and the strength of the trauma may affect the prognosis.
Cranial Nerve Diseases ; Craniocerebral Trauma ; Diagnosis ; Head ; Humans ; Intracranial Hemorrhages ; Ocular Motility Disorders ; Optic Nerve Injuries ; Paralysis ; Prognosis ; Retrospective Studies ; Skull Fractures ; Strabismus ; Visual Fields

The most cases with orbital metastases have been reported in patients with a prior established diagnosis of cancer and widespread systemic involvement. However, ocular symptoms can be developed as an initial presentation of cancer in patients without cancer history. We report a case of rapid progression from trochlear nerve palsy to orbital apex syndrome as an initial presentation of advanced gastric cancer.
Diagnosis ; Diplopia ; Humans ; Neoplasm Metastasis ; Optic Nerve Diseases ; Orbit ; Stomach Neoplasms ; Trochlear Nerve Diseases ; Trochlear Nerve

PURPOSE: To report a case of abducens nerve palsy and optic perineuritis caused by fungal sphenoidal sinusitis. CASE SUMMARY: A 48-year-old male visited emergency department for retrobulbar pain, decreased vision, and horizontal diplopia for 3 days. He reported that previous medical history was non-specific, however, blood glucose level was 328 mg/dL (70–110). He had experienced severe headache for 7 days. The best corrected visual acuity was 20/20 at right eye and 20/25 at left eye. The pupil of left eye did not have relative afferent pupillary defect. Left mild proptosis was noted. The extraocular examination showed 30 prism diopters left esotropia at primary gaze and −4 abduction limitation of left eye. The left eye showed mild optic disc swelling and inferior field defect by field test. Brain magnetic resonance imaging showed enhancement of sphenoidal sinus, ethmoidal sinus, and around optic nerve at left eye. Three days after antibiotics treatment, the vision of left eye deteriorated to 20/40 and periorbital pain developed. The drainage and biopsy of sphenoidal sinus were performed. The histopathologic examination showed hyphae consistent with aspergillosis. The ocular symptoms were improved with anti-fungal treatment. Follow-up magnetic resonance imaging performed 1 month after treatment showed improvement of lesion at left orbit. Five months after surgery, the visual acuity of left eye was improved to 20/25. The patient showed orthotropia at primary gaze without limitation. CONCLUSIONS: The abducens nerve palsy and optic perineuritis can be caused by fungal sphenoidal sinusitis. The early diagnosis and appropriate treatment can lead to favorable outcome.
Abducens Nerve Diseases ; Abducens Nerve ; Anti-Bacterial Agents ; Aspergillosis ; Biopsy ; Blood Glucose ; Brain ; Diplopia ; Drainage ; Early Diagnosis ; Emergency Service, Hospital ; Esotropia ; Ethmoid Sinus ; Exophthalmos ; Follow-Up Studies ; Fungi ; Headache ; Humans ; Hyphae ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Optic Nerve ; Orbit ; Pupil ; Pupil Disorders ; Sphenoid Sinusitis ; Visual Acuity

BACKGROUND AND PURPOSE: Optic neuritis (ON) is an inflammation of the optic nerve that can be recurrent, with unilateral or bilateral presentation. Diagnosing recurrent cases may be challenging. We aimed to compare patients with recurrent ON as their initial symptom according to their following final diagnoses: multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD), or chronic relapsing inflammatory optic neuropathy (CRION). METHODS: The medical records of patients with initial recurrent ON who were followed at the Neuroimmunology Clinic of the Federal University of São Paulo between 2004 and 2016 were analyzed retrospectively. Patients were classified according to their final diagnosis into MS, NMOSD, or CRION, and the characteristics of these groups were compared to identify predictive factors. RESULTS: Thirty-three patients with recurrent ON were included, and 6, 14, and 13 had final diagnoses of MS, NMOSD, and CRION, respectively. Most of the patients were female with unilateral and severe ON in their first episode, and the initial Visual Functional System Score (VFSS) was ≥5 in 63.6%, 85.7%, and 16.7% of the patients with CRION, NMOSD, and MS, respectively. Anti-aquaporin-4 antibodies were detected in 9 of 21 (42.8%) tested patients. Seven of nine (77.8%) seropositive NMOSD patients experienced transverse myelitis episodes during the follow-up period. A multivariate regression analysis showed that the VFSS at the last medical appointment predicted the final diagnosis. CONCLUSIONS: A lower VFSS at the last medical appointment was predictive of MS. Patients with NMOSD and CRION have similar clinical characteristics, whereas NMOSD patients tend to have worse visual acuity.
Antibodies ; Aquaporin 4 ; Demyelinating Diseases* ; Diagnosis ; Female ; Follow-Up Studies ; Humans ; Inflammation ; Medical Records ; Multiple Sclerosis ; Myelitis, Transverse ; Neuromyelitis Optica ; Optic Nerve ; Optic Nerve Diseases ; Optic Neuritis* ; Recurrence ; Retrospective Studies ; Visual Acuity

PURPOSE: Leber hereditary optic neuropathy (LHON) is one of the most common hereditary optic neuropathies caused by mutations of mitochondrial DNA. Three common mitochondrial mutations causing LHON are m.3460, m.11778, and m.14484. We report a rare mutation of the mitochondrial tRNA (Leu [UUR]) gene (MT-TL1) (m.3268 A > G) in a patient with bilateral optic atrophy. CASE SUMMARY: A 59-year-old female diagnosed with glaucoma 3 years earlier at a community eye clinic presented to our neuro-ophthalmology clinic. On examination, her best corrected visual acuity was 0.4 in the right eye and 0.7 in the left eye, and optic atrophy was noticed in both eyes. Optical coherence tomography revealed retinal nerve fiber layer (RNFL) thinning in both eyes; average RNFL thickness was 52 µm in the right eye and 44 µm in the left eye, but the papillomacular bundle was relatively preserved in both eyes. Goldmann perimetry demonstrated peripheral visual field defects, mostly involving superotemporal visual field in both eyes. Mitochondrial DNA mutation test showed an unusual mutation in MT-TL1 gene seemingly related to this optic neuropathy. CONCLUSIONS: We found a rare mutation (m.3268 A > G) of the mitochondrial DNA in a patient having bilateral optic atrophy, which led to the diagnosis of LHON. There have been previous reports about mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and infantile myopathy caused by MT-TL1 mutation, but this is the first case of LHON associated with the same mutation. In this case of LHON associated with MT-TL1 mutation, atypical clinical features were observed with a relatively mild phenotype and peripheral visual field defects.
Diagnosis ; DNA, Mitochondrial ; Female ; Glaucoma* ; Humans ; MELAS Syndrome ; Middle Aged ; Muscular Diseases ; Nerve Fibers ; Optic Atrophy ; Optic Atrophy, Hereditary, Leber* ; Optic Nerve Diseases ; Phenotype ; Retinaldehyde ; RNA, Transfer ; Tomography, Optical Coherence ; Visual Acuity ; Visual Field Tests ; Visual Fields

PURPOSE: To investigate the neuro-ophthalmic diagnosis and clinical manifestations of intracranial aneurysm. METHODS: A retrospective survey of 33 patients who were diagnosed with intracranial aneurysm and underwent neuro-ophthalmic examination from April 2008 to December 2016. Frequency of the first diagnosis of intracranial aneurysm in ophthalmology, neuro-ophthalmic diagnosis, location of intracranial aneurysm, examination of intracranial aneurysm rupture, and neurologic prognosis of Terson's syndrome patients were analyzed by image examination, neurosurgery, and ophthalmology chart review. RESULTS: Of the 33 patients, most patients (n = 31, 94%) were diagnosed with intracranial aneurysm at the neurosurgical department and only 2 patients were diagnosed initially at the ophthalmology department. Causes and association were: Terson's syndrome (n = 10, 30%), third cranial nerve palsy (n = 10, 30%), internclear ophthalmoplegia (n = 4, 12%), visual field defect (n = 3, 9%), optic atrophy (n = 3, 9%), sixth cranial nerve palsy (n = 2, 6%), and nystagmus (n = 1, 3%). The location of intracranial aneurysms were: anterior communicating artery (n = 13, 39%), medial communicating artery (n = 12, 36%), and posterior communicating artery (n = 5, 15%). Ten of 33 patients had Terson's syndrome, and 6 patients (60%) with Terson's syndrome had apermanent neurological disorder such as agnosia, gait disorder and conduct disorder. CONCLUSIONS: Third cranial nerve palsy was the most common neuro-ophthalmic disease in patients presenting with intracranial aneurysm. The neuro-ophthalmic prognoses for those diseases were relatively good, but, if Terson's syndrome was present, neurological disorders (agnosia, gait disorder, conduct disorder) were more likely to remain after treatment.
Abducens Nerve Diseases ; Agnosia ; Arteries ; Conduct Disorder ; Diagnosis ; Gait ; Humans ; Intracranial Aneurysm* ; Nervous System Diseases ; Neurosurgery ; Oculomotor Nerve ; Ophthalmology ; Ophthalmoplegia ; Optic Atrophy ; Paralysis ; Prognosis ; Retrospective Studies ; Rupture ; Visual Fields

PURPOSE: Solitary plexiform neurofibroma of the eyelid without neurofibromatosis is a rare disease. We report a case of solitary plexiform pigmented neurofibroma of the eyelid without neurofibromatosis. CASE SUMMARY: A 12-year-old male visited our clinic with a painless palpable subcutaneous mass on the right lower eyelid. He had a history of Batter syndrome and attention deficit hyperactivity disorder. On initial presentation, clinical features regarding neurofibromatosis such as Lisch nodule, optic nerve glioma, or high myopia were not observed. We performed excision and biopsy of the lower lid mass under general anesthesia. Macroscopically, the tumor was 4.0 × 1.5 × 1.5 cm in size with irregular nodules. Microscopically, the tumor consisted of multiple, variably sized tortous enlarged nerve fascicles with clusters of pigmented cells. Immunohistochemical results revealed expression of S-100 protein. Pigmented cells express both S-100 and melan-A proteins, while nonpigmented cells express S-100 protein only. The tumor was finally diagnosed as plexiform pigmented neurofibroma. Dermatological evaluation revealed no evidence of systemic neurofibromatosis. CONCLUSIONS: Plexiform neurofibroma should be considered in the differential diagnosis of an eyelid mass, even if the patient does not have a history or clinical features of neurofibromatosis. Plexiform neurofibroma can be successfully managed with surgical excision.
Anesthesia, General ; Attention Deficit Disorder with Hyperactivity ; Biopsy ; Child ; Diagnosis, Differential ; Eyelids* ; Humans ; Male ; MART-1 Antigen ; Myopia ; Neurofibroma ; Neurofibroma, Plexiform* ; Neurofibromatoses ; Neurofibromatosis 1 ; Optic Nerve Glioma ; Rare Diseases ; S100 Proteins

PURPOSE: To report a case of uremic optic neuropathy occurring in a patient with chronic renal failure. CASE SUMMARY: A 40-year-old male who was diagnosed with chronic renal failure and treated with peritoneal dialysis and hemodialysis for 17 years presented with blurred vision and a moving pain in his left eye for 2 days. The best corrected visual acuity (BCVA) was 0.2 in his left eye, and an inferior altitudinal visual field defect was noted on Humphrey perimetry. Fundus examination and optical coherence tomography showed optic disc swelling in his left eye; the right eye was unremarkable. These findings were compatible with a diagnosis of uremic optic neuropathy or anterior ischemic optic neuropathy of his left eye. After treatment of hemodialysis and intravenous high dose steroid pulse therapy, the BCVA in his left eye was 0.8. However, since he refused oral steroid maintenance therapy, his BCVA later decreased to 0.4. After treatment with subtenon triamcinolone injection, the BCVA in his left eye was 1.0 and showed a stable disease course. CONCLUSIONS: When patient with chronic renal failure presents with acute decrease in visual acuity and visual field defect, optic neuropathies including uremic optic neuropathy should be considered and prompt hemodialysis and systemic steroid treatment should be done.
Adult ; Diagnosis ; Humans ; Kidney Failure, Chronic* ; Male ; Optic Nerve Diseases* ; Optic Neuropathy, Ischemic ; Peritoneal Dialysis ; Renal Dialysis ; Tomography, Optical Coherence ; Triamcinolone ; Uremia ; Visual Acuity ; Visual Field Tests ; Visual Fields

PURPOSE: To identify magnetic resonance imaging (MRI) findings of leukemic infiltration of optic nerve and optic neuritis in leukemic patients with emphasis of clinical findings as reference standard to differentiate them. MATERIALS AND METHODS: MRI and clinical findings of 7 patients diagnosed as leukemic infiltration of optic nerve (n = 5) and optic neuritis (n = 2) in our institution between July 2006 and August 2015were reviewed retrospectively. In particular, MR imaging findings involved perineural enhancement and thickening of optic nerve and its degree, signal intensity, laterality (unilateral/bilateral), intraconal fat infiltration and its degree, and associated central nervous system abnormalities. RESULTS: Of 5 cases of leukemic infiltration of optic nerve, 4 cases showed positive cerebrospinal fluid (CSF) study for leukemia relapse and 1 case was positive on bone marrow (BM) biopsy only. Moreover, of 5 leukemic infiltration of optic nerve, 2 cases showed the most specific MR findings for leukemic central nervous system involvement including 1 prominent leptomeningeal enhancement and 1 chloroma. However, other MR imaging findings of the patients with leukemic infiltration or optic neuritis such as thickening and perineural enhancement of optic nerves are overlapped. CONCLUSION: Enhancement and thickening of optic nerve were overlapped MR findings in leukemic infiltration of optic nerve and optic neuritis. Our findings suggest that enhancing optic nerve thickening with associated central nervous system MR abnormality favors the diagnosis of leukemic infiltration of optic nerve, especially in patients with history of acute lymphoblastic leukemia. However, CSF and BM study were required for differentiation between leukemic infiltration of optic nerve and optic neuritis.
Biopsy ; Bone Marrow ; Central Nervous System ; Cerebrospinal Fluid ; Diagnosis ; Humans ; Leukemia ; Leukemic Infiltration* ; Magnetic Resonance Imaging ; Optic Nerve Diseases ; Optic Nerve* ; Optic Neuritis* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Recurrence ; Retrospective Studies ; Sarcoma, Myeloid