Gregory P. Van Stavern

Clinical characterization of idiopathic intracranial hypertension at the Detroit Medical Center

BACKGROUND Idiopathic intracranial hypertension (IIH), also known as pseudotumor cerebri (PTC), is a condition characterized by increased intracranial pressure without clinical, laboratory or radiologic evidence of an intracranial space-occupying lesion, meningeal inflammation or venous outflow obstruction. Previous population-based studies evaluated the presenting clinical features of IIH in North-Eastern Libya, Iowa, Louisiana, Minnesota, Northern Ireland, Israel and Western Turkey. However, we report the demographic patterns of a metropolitan North American city. METHODS We performed a retrospective study of all patients with an initial IIH diagnosis and follow-up at the Detroit Medical Center (DMC), Michigan from 1985 to 2002. Medical records of 174 patients were reviewed, with 77 patients fitting the diagnostic criteria. RESULTS Seventy-seven patients, 71 females (92.2%) and 6 males (7.8%) were identified. Age ranged from 10 to 50 years, with a mean of 34 years. Fifty patients (65%) were African-American and 24 patients (31%) were Caucasian. The most common presentation was isolated headache (28.6%). Nineteen patients (24.7%) were asymptomatic. Obesity was described in 65 of 74 patients (87.8%) evaluated for body dimensions. CONCLUSIONS We report an increased number of asymptomatic patients after routine ophthalmic examination. Obese females in metropolitan Detroit would benefit from routine eye evaluations to avoid potential visual loss related to papilledema.

Adalimumab-associated optic neuritis

We present, to our knowledge, the first published cases of optic neuritis associated with adalimumab, a medication in the class of anti-tumor necrosis factor-alpha (TNF-alpha) antagonists. Approved in recent years by the FDA, adalimumab (Humira, Abbott Laboratories; Abbott Park, IL) is a recombinant monoclonal antibody that targets and blocks the physiologic effects of TNF. Other TNF antagonists have had associations with optic neuritis and demyelinating events.

Idiopathic intracranial hypertension (pseudotumor cerebri).

Purpose of review To review the current standard of care in the diagnosis and treatment of idiopathic intracranial hypertension (IIH). We also discuss recent advances in the understanding of the pathogenesis of IIH with emerging trends in management of this syndrome. Recent findings There has been increasing literature suggesting a role of vitamin A, adipokines, sleep disorders, and venous sinus stenosis in the pathogenesis of IIH. Newer medical treatment options like topiramate and surgical treatment options like stereotactic ventriculoperitoneal shunting have been found to be attractive alternatives. There has also been an emerging interest in cerebral venous sinus stenting, though its role and utility remain debatable. Summary This article seeks to present a systematic approach to the management of IIH. Many newer treatment modalities are being explored for IIH refractory to standard medical therapy, but their efficacy and safety must be demonstrated in large studies before they can be adopted as part of standard treatment.

A Potential Role for B-Cell Activating Factor in the Pathogenesis of Autoimmune Myasthenia Gravis

OBJECTIVE To compare serum B-cell activating factor (BAFF) levels in patients with myasthenia gravis (MG) with those in control subjects without MG. DESIGN Case-control study. Subjects Forty-three patients with MG were compared with control subjects without MG. These included 48 healthy subjects, 25 patients with multiple sclerosis, and 3 patients with amyotrophic lateral sclerosis. RESULTS In all subjects studied, there was no correlation between the serum BAFF level and the concentration of total IgG, IgA, or IgM. The BAFF levels in patients with multiple sclerosis or amyotrophic lateral sclerosis were not significantly different from those in healthy subjects. However, BAFF levels in patients with MG were significantly higher than those of all the control subjects. There was no correlation or dependence between the serum BAFF level and the extent or severity of disease. There was a trend for BAFF levels to be higher in patients who were seropositive for acetylcholine receptor-specific antibodies. CONCLUSIONS We report that BAFF levels are increased in patients with autoimmune MG. Our data suggest that BAFF is likely to play a role in the pathogenesis of MG by promoting the survival and maturation of autoreactive B cells.

Neuro-ophthalmic manifestations of head trauma.

Objective To describe the neuro-ophthalmic findings in a group of patients with head trauma. Materials and Methods A retrospective chart review of all patients given a diagnosis code of head trauma in the neuro-ophthalmology unit at Emory University between 1991 and 1999. Results A total of 326 consecutive patients were reviewed (203 [63%] men and 123 [37.0%] women). Age ranged from 2 to 86 years, with a mean of 30 years. Motor vehicle accident was the most common cause of head trauma, occurring in 195 (59.8%) patients. An abnormal neuro-ophthalmic examination was noted in 185 of 326 patients (56.7%). Loss of consciousness was not associated with any outcome, but the presence of a neuroimaging abnormality, particularly intracranial hemorrhage, was significantly associated with specific neuro-ophthalmic deficits. Conclusions Head trauma causes a number of neuro-ophthalmic manifestations. The afferent and efferent pathways are vulnerable to traumatic injury, although the efferent system is more commonly affected. Loss of consciousness may not be a reliable predictor of specific neuro-ophthalmic outcomes, but neuroimaging abnormalities may.

Neuro-ophthalmologic features of spinocerebellar ataxia type 7.

Background: Spinocerebellar ataxia type 7 (SCA7) is a progressive ataxia that is unique among inherited ataxias in having a high prevalence of retinal photoreceptor abnormalities. However, the ophthalmic features and their relationship to the neurologic features of SCA7 have not been widely reported. The goal of this study was to provide increased documentation. Methods: The medical records of 10 consecutive patients with SCA7 examined in the Neuro-Ophthalmology Clinic at Kresge Eye Institute between 2000 and 2008 were reviewed retrospectively. Each patient underwent a standardized ophthalmologic and neurologic examination. Some patients also underwent electroretinography (ERG). Eight patients had genetically confirmed disease and 2 patients had presumptive SCA7 based on their clinical presentation. Patients were excluded if they had visual loss or ataxia due to other causes. Results: Nine patients reported visual symptoms at presentation, including hemeralopia, photophobia, dyschromatopsia, and blurred vision. In 3 of these patients, the visual symptoms had preceded the onset of ataxic symptoms. Visual acuity was abnormal in all patients at presentation. Four patients with visual dysfunction had normal or minimally abnormal macular pigmentary changes, but all patients had abnormal electroretinograms (ERGs) showing primarily cone dysfunction. The severity of visual loss and the severity of ataxia were frequently discordant. Conclusions: Based on this study, patients with SCA7 often have visual symptoms that may precede, accompany, or follow the onset of ataxic symptoms. The severity of vision loss and ataxia may be discordant. Ophthalmoscopic evidence of macular abnormalities may be scant, but results of ERG will always be abnormal. This information may assist in earlier and more cost-effective diagnosis and permit more effective patient counseling.

Isolated Ocular Motor Nerve Palsies.

An isolated ocular motor nerve palsy is defined as dysfunction of a single ocular motor nerve (oculomotor, trochlear, or abducens) with no associated or localizing neurologic signs or symptoms. When occurring in patients aged 50 or older, the most common cause is microvascular ischemia, but serious etiologies such as aneurysm, malignancy, and giant cell arteritis should always be considered. In this article, the authors review the clinical approach, anatomy, and differential diagnosis of each isolated ocular motor nerve palsy and discuss the clinical characteristics, pathophysiology, and treatment of microvascular ischemia.

IgG4-associated orbital and ocular inflammation

BackgroundIgG4-associated orbital and ocular inflammation is a relatively unknown entity characterized by sclerosing inflammation with infiltration of IgG4-positive plasma cells. Some so-called idiopathic inflammation syndromes are being re-classified as IgG4-associated inflammation with histopathologic evaluation.FindingsWe report three cases with differing manifestations of IgG4-associated ocular and orbital inflammation: a case of recurrent, treatment-refractory sclero-uveitis that was diagnosed as granulomatosis with polyangiitis with an IgG4-related component, a case of pachymeningitis with optic neuritis that resulted in permanent visual loss, and a case of orbital inflammatory pseudotumor. All three would have been incompletely diagnosed without thorough histopathologic evaluation (including immunohistochemistry).ConclusionsIgG4-associated disease is an idiopathic, multi-organ inflammatory state that can manifest as chronic, relapsing, sclerosing inflammation in virtually any organ system. There is a wide range of presentations in ocular and orbital inflammation. Ophthalmologists should keep IgG4-associated inflammation in mind when examining chronic, sclerofibrosing inflammation with multi-system involvement. The histology of biopsy specimens is crucial in making the correct diagnosis. Timely assessment may lead to fewer diagnostic tests and more targeted therapy.

Association between visual parameters and neuroimaging features of idiopathic intracranial hypertension

BACKGROUND/AIMS Papilledema refers to optic disc swelling resulting from high intracranial pressure (ICP). The precise mechanism by which papilledema occurs remains uncertain. Although orbital neuroimaging features associated with papilledema are well-described, it is unclear whether these findings correlate with visual function. Idiopathic Intracranial Hypertension (IIH) is a condition in which the intracranial pressure is elevated with no obvious cause, causing papilledema and visual loss. The utility of papilledema and IIH neuroimaging findings as a surrogate marker for visual loss, or a predictor of visual loss, is understudied. This retrospective cross-sectional review aims to correlate parameters of visual function with orbital magnetic resonance imaging (MRI) findings. METHODS Patients meeting criteria for IIH who had received orbital imaging within 4 weeks of examination were included. Visual parameters of papilledema grade, visual field mean deviation, and visual acuity were correlated with neuroimaging features, including optic nerve thickness, and optic nerve sheath thickness, among others. All MRI scans were reviewed by a neuroradiologist blinded to clinical status. Spearman rank correlations and t-tests were generated with SAS (v9.2). RESULTS Thirty five patients were included. No significant relationships were found between the main visual parameters of papilledema grade and visual field mean deviation, and MRI findings. CONCLUSIONS We found no significant correlation between visual parameters and imaging features of papilledema. This might indicate that MRI features may provide insight into the structural changes that occur in papilledema, but may not be helpful when making clinical management decisions for patients with IIH in particular, and papilledema in general.

Leber hereditary optic neuropathy mimicking neuromyelitis optica.

Leber hereditary optic neuropathy (LHON) is rarely associated with multiple sclerosis-like features. We present a case of a 65-year-old African American woman with LHON masquerading as neuromyelitis optica (NMO). We highlight the features of the clinical examination and MRI that were suggestive of an alternative diagnosis and review the literature regarding LHON and multiple sclerosis. The diagnosis of LHON should be considered in all cases of acute or subacute bilateral optic neuropathy, including presumed seronegative NMO.