Ocular motor and vestibular dysfunction in central nervous system lymphoma.

BACKGROUND AND PURPOSE: Diagnosis of lymphoma involving the central nervous system (CNS) is challenging. This study aimed to explore the abnormal vestibular and ocular motor findings in CNS lymphoma. METHODS: A retrospective search of the medical records identified 30 patients with CNS lymphoma presenting ocular motor and vestibular abnormalities from four neurology clinics of university hospitals in South Korea (22 men, age range 14-81 years, mean 60.6 ± 15.2). The demographic and clinical features and the results of laboratory, radiological and pathological evaluation were analyzed. RESULTS: Patients presented with diplopia (13/30, 43%), vestibular symptoms (15/30, 50%) or both (2/30, 7%). In 15 patients with diplopia, abnormal ocular motor findings included ocular motor nerve palsy (n = 10, 67%), internuclear ophthalmoplegia (n = 2, 13%), external ophthalmoplegia (n = 2, 13%) and exophoria (n = 1, 7%). The vestibular abnormalities were isolated in 14 (82%) of 17 patients with vestibular symptoms and included combined unilateral peripheral and central vestibulopathy in three from lesions involving the vestibular nuclei. CNS lymphoma involved the brainstem (53%), cerebellum (33%), leptomeninges (30%), deep gray nuclei (23%) or cranial nerves (17%). Two patients showed the "double-panda" sign by involving the midbrain. CONCLUSIONS: This study expands the clinical and radiological spectra of CNS lymphoma. Neuro-ophthalmological and neuro-otological evaluation may guide the early diagnosis of CNS lymphoma.

Erratum: Isolated Vestibular Syndrome With "Double-Panda" Sign in CNS Lymphoma.

This corrects the article on p. 111 in vol. 18, PMID: 35021288.

Acquired Ocular Motor Nerve Palsy in Neurology Clinics: A Prospective Multicenter Study.

BACKGROUND AND PURPOSE: This study aimed to determine the patterns and etiologies of acquired ocular motor nerve palsy (OMNP) diagnosed in neurology clinics. We also investigated the clinical features that may predict the causes other than microvascular ischemia in isolated OMNP. METHODS: We performed a prospective multicenter study that had recruited 298 patients with acquired OMNP from the neurology clinics of referral-based 9 university hospitals in Korea. We finally selected 235 patients with isolated OMNP and divided them into older (age ≥50 years, n=188) and younger (age <50 years, n=47) groups. We investigated the underlying etiologies of acquired OMNP. We also estimated the frequency of microvascular ischemia and other causes in isolated OMNP, and sought to determine the clinical features that can predict the causes other than microvascular ischemia. RESULTS: Abducens nerve palsy was the most common (40%) of the acquired OMNPs, followed by oculomotor nerve palsy (27%), trochlear nerve palsy (23%), and multiple OMNPs (10%). The etiologies included microvascular ischemia (47%), inflammatory (21%), stroke (5%), trauma (5%), neoplasm (3%), and others (2%), with the cause not being determined in 13% of the patients. Microvascular ischemia was the most common cause (83%) in patients aged ≥50 years with isolated OMNP, followed by inflammation (6%), stroke (6%), neoplasm (3%), and aneurysm (1%). Microvascular ischemia was more common in the older than the younger group (83% vs. 49%, p<0.001). The intensity of headache was the only risk factor for causes other than microvascular ischemia in isolated OMNP. CONCLUSIONS: Vascular and inflammatory disorders are the most common causes of acquired OMNP diagnosed in neurology clinics. Microvascular ischemia was the predominant cause of isolated OMNP. Severe headache indicates causes other than microvascular ischemia in isolated OMNP.

Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.

Purpose: We investigate the genotype and phenotype spectrum of FRMD7-associated infantile nystagmus syndrome in Korean probands. Methods: A total of 37 patients with infantile nystagmus syndrome were recruited prospectively for genetic analysis. We performed polymerase chain reaction (PCR)-based direct sequencing and haplotype analysis for FRMD7. Detailed ophthalmic examinations and eye movement recordings were compared between FRMD7 and non-FRMD7 groups. Results: In 13 (35%) of 37 patients, five different mutations of FRMD7 were detected: start codon mutation c.1A>G, splice site mutation c.162+6T>C, and three missense mutations (c.575A>C, c.722A>G, and c.875T>C). The latter mutation was identified in seven unrelated patients, and always was accompanied with two single nucleotide polymorphisms of exon 12 (rs6637934, rs5977623). Compared to non-FRMD7 groups, a cup-to-disc ratio was significantly decreased in FRMD7 groups (P < 0.001), and a disc-macula distance to disc diameter ratio markedly increased in the FRMD7 group (P = 0.015). Most patients in the FRMD7 group had at least two types of the nystagmus waveforms, and the most common type was unidirectional jerk nystagmus (75%), such as pure jerk and jerk with extended foveation, followed by pendular (25%), bidirectional jerk (19%), and dual jerk (6%) nystagmus. No significant differences were observed between FRMD7 and non-FRMD7 groups in terms of the nystagmus waveform, presence of periodic alternating nystagmus, and mean foveation time. Conclusions: We identified five FRMD7 mutations in 35% of our infantile nystagmus syndrome cohort, expanding its mutational spectrum. The missense mutation c.875T>C may be a common mutation arisen from the founder effect in Korea. Optic nerve dysplasia associated with FRMD7 mutations suggests that the abnormal development of afferent visual systems may affect neural circuitry within the oculomotor system.

Saccadic Palsy after Cardiac Surgery: Serial Neuroimaging Findings during a 6-Year Follow-Up.

BACKGROUND: Patients who develop horizontal and vertical saccadic palsy after cardiac surgery have rarely been described. Although most such patients exhibit distinct neurological deficits, their brain MRI findings are almost normal. In addition, functional neuroimaging of such patients has never been reported. CASE REPORT: A 43-year-old woman with dysarthria, dysphagia, and horizontal and vertical saccadic palsy after cardiac surgery was followed up for about 6 years; serial brain MRIs has been performed during this period, including susceptibility-weighted imaging (SWI) and [(18)F]-fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET). Multiple microbleeds in the cerebral cortex, cerebellum, and brainstem, and glucose hypometabolism in the brainstem, cerebellum, and multiple cortical areas. CONCLUSIONS: To the best of our knowledge, this is the first reported case of saccadic palsy after cardiac surgery with serial SWI and [(18)F]-FDG-PET performed to explore the possible cerebral lesions.

Intracranial fibromuscular dysplasia presenting as various ocular manifestations.

Fibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory vascular disease that mainly affects renal, extracranial carotid, and vertebral arteries. Intracranial FMD is uncommon unlike extracranial or renal FMD, and the primary manifestation of intracranial FMD is intracranial aneurysm. We report an unusual case of intracranial FMD showing various ocular manifestations, including central retinal artery occlusion, transient monocular blindness, and oculomotor nerve palsy without renal involvement.

Optic neuritis after Klebsiella pneumonitis and liver abscess.

A 56-year-old woman developed a left optic neuropathy in the context of a Klebsiella pneumonitis that had also produced a liver abscess. Ophthalmic examination was normal apart from no light perception vision in the left eye and a left afferent pupil defect. Orbit and brain MRI revealed enhancement of the left optic nerve and several round enhancing areas in the gray-white junction of the frontal and temporal lobes consistent with microabscesses. Although the patient recovered systemically with antiinfective and corticosteroid treatment, she retained no light perception vision in the left eye 4 months later. The association of Klebsiella pneumonitis and optic neuritis has not been described previously. We presume that the organisms spread hematogenously.

Simultaneous posterior ischemic optic neuropathy, cerebral border zone infarction, and spinal cord infarction after correction of malignant hypertension.

A 31-year-old woman developed bilateral posterior ischemic optic neuropathy and infarctions of the cerebral arterial border zones and spinal cord after correction of malignant hypertension. Although a few reports have described patients with neurologic abnormalities after treatment of malignant hypertension, full clinical and neuroimaging documentation of this combination of findings has not occurred. This case report suggests that the relative hypotension of autoregulatory failure induced by treatment of malignant hypertension may give rise to these neurologic complications.

Isolated monocular visual loss as an initial manifestation of polycythemia vera.

A 25-year-old man developed prolonged loss of vision in the left eye. Examination revealed that visual acuity was 20/20 in the right eye and 10/20 in the left eye, with a left relative afferent pupillary defect. Fundoscopy showed multiple cotton wool spots in the left whole retina with normal optic disc. Fluorescein angiography (FA) revealed markedly delayed arterial, venous and recirculation time in the left eye without retinal arterial or venous occlusion. Bone marrow aspirate confirmed polycythemia vera. After the patient underwent phlebotomy, his visual acuity markedly improved and cotton wool spots in the retina disappeared. On follow-up FA, delayed arterial and venous filling, and recirculation time also became normalized. This case suggests that ischemic damage of the retina due to the great viscosity of blood may be a possible mechanism of monocular visual loss in polycythemia vera. Clinicians should be aware that isolated monocular visual loss may be an initial manifestation of polycythemia vera, since if untreated, polycythemia vera carries a high risk of permanent complications due to intravascular thrombosis.

Isolated vertical diplopia as the initial manifestation of presumed pretectal and anterior hypothalamic germinomas.

A 21-year-old man with a 5-month history of diplopia caused by isolated vertical ocular misalignment had normal laboratory studies, including brain magnetic resonance imaging (MRI). Eight months after the onset of diplopia, he reported dry mouth, polydipsia, polyuria, and absent sweating. Examination now disclosed light-near dissociation of the pupillary responses, convergence-retraction nystagmus, and upgaze palsy. MRI revealed enhancing suprasellar and pretectal masses presumed to be germinomas. Two years after brain irradiation and systemic chemotherapy, no lesions are apparent on MRI and hypothalamic dysfunction has partially resolved. In a young patient with isolated vertical diplopia and normal brain imaging, one should consider an early pretectal syndrome and inquire after manifestations of hypothalamic dysfunction.