Retinal degeneration is associated with brain volume reduction and prognosis in radiologically isolated syndrome.

BACKGROUND: The extent of neurodegeneration in the earliest stages of central nervous system (CNS) demyelination is not known. Optical coherence tomography (OCT) is a powerful tool to study neurodegeneration in demyelinating disorders. OBJECTIVES: To study neuroaxonal loss in the retina of individuals with radiologically isolated syndrome (RIS) and investigate whether OCT measurements are associated with brain volumetrics and clinical conversion to multiple sclerosis (MS). METHODS: Subjects fulfilling the Okuda criteria for RIS (n = 15 patients, 30 eyes) and age- and sex-matched healthy controls (HC) underwent spectral-domain OCT and magnetic resonance imaging for volumetric measurement of brain structures. RESULTS: Macular ganglion cell-inner plexiform layer (mGCIPL), macular retinal nerve fiber layer (mRNFL), and temporal peripapillary RNFL (pRNFL) thickness; normalized total brain volume (nTBV); and normalized thalamic volume (nTV) were reduced in RIS compared to HC. mGCIPL, mRNFL, and pRNFL measurements were associated with nTBV, nTV, and normalized gray and white matter volumes in the RIS group. pRNFL was thinner in individuals with RIS who converted to MS in 5 years. CONCLUSIONS: Retinal neurodegeneration can be detected in the papillomacular region in the earliest stages of CNS demyelination and reflects global disease processes in the brain. OCT can be potentially useful for predicting prognosis in RIS.

Progressive multifocal leukoencephalopathy in a patient with lymphoma and presumptive hyper IgE syndrome.

We, herein, report a 23-year-old male with a rare inherited immunodeficiency disease, hyperimmunoglobulin IgE syndrome (HIES), who developed progressive multifocal leukoencephalopathy (PML) and lymphoma simultaneously. Primary immunodeficiency of the patient has remained undiagnosed until adulthood. PML is a severe demyelinating disease of the central nervous system caused by John Cunningham virus. HIES is a rare, inherited immunodeficiency characterized by high serum levels of IgE, recurrent staphylococcal infection, eczema, and hypereosinophilia. PML may accompany primary immunodeficiency syndromes, but the association with HIES is exceedingly rare. We discuss the imaging findings, medical management, and a review of related literature on primary immunodeficiency cases complicating with PML.

Diabetic uremic syndrome studied with cerebral MR spectroscopy and CT perfusion.

Diabetic uremic syndrome (DUS) is an increasingly reported acute neurometabolic cerebral disease with characteristic clinical and imaging features. Clinical spectrum includes a wide range of movement disorders such as acute parkinsonism. Imaging studies show reversible (with hemodialysis) bilateral lesions in the lenticular nuclei. DUS pathophysiology has not been entirely clarified yet. Our case study shows certainly that LN lesions are characterized with increased lactate peak with MR spectroscopy and decreased perfusion in computerized tomography perfusion along with increased diffusion with apparent diffusion coefficient (ADC) mapping in the subacute phase of the syndrome. Abnormalities were almost normalized quickly after metabolic control by hemodialysis. Together with reports indicating that a deficit of glucose use exacerbated with acute increase of uremic toxins in bilateral LN, observed changes (lactate peak and hypoperfusion) led us to state that a primary metabolic depression may cause this syndrome. Metabolic depression is probably due to uncompensated uremic toxin accumulation related mitochondrial supression and/or dysfunction. This definition fits well to the other elements of DUS such as ADC evolution and marked lesion regression. Our single case study is not supportive of other previously credited mechanisms such as microvascular dysfunction related focal ischemia or hypoperfusion, prolonged uremic toxin related histotoxic hypoxia, central pontine myelinolysis-like demyelination and posterior leukoencephalopathy spectrum disorder related vasogenic edema.

An immunological and transcriptomics approach on differential modulation of NK cells in multiple sclerosis patients under interferon-ß1 and fingolimod therapy.

This study aims to compare NK cells obtained from multiple sclerosis (MS) patients receiving interferon-ß1 and fingolimod therapies. Fingolimod reduced the CD56bright NK cell subset. The remaining CD56dim NK cells displayed NKG2D, NKp46, CD107a, and IFN-γ levels similar to those from the patients under interferon-ß1 therapy. Alternatively, comparative transcriptomics and pathway analyses revealed significant distinctions between two therapy modalities. Molecular signature of the CD56dim NK cells from fingolimod-treated MS patients was closely associated to those from healthy subjects. The basic assets of NK cells were modestly influenced by interferon-ß1 and fingolimod, however transcriptomics showed profound alterations in NK responses.

Two cases of primary leptomeningeal melanomatosis mimicking subacute meningitis.

Primary involvement of leptomeninges with melanocytic tumours is rarely seen and its diagnosis is challenging. Here we summarise two cases of primary leptomeningeal melanomatosis presenting as subacute meningitis. Both cases have pleocytosis and high protein on cerebrospinal fluid analysis, and demonstrated atypical cells on cytology. On magnetic resonance imaging, there is diffuse leptomeningal thickening and avid enhancement of intracranial and intraspinal leptomeninges. One of them demonstrates T1 shortening due to magnetic effects of melanin, the other case is amelanotic and shows hypointensity on precontrast T1-weighted images. Both cases can be diagnosed with biopsy. In conclusion, these cases highlight the importance of the correct interpretation of cytological and magnetic resonance imaging findings in patients with atypical findings.

Isolated central nervous system Whipple's disease: Two cases.

Although it is an orphan disease, isolated central nervous system Whipple's disease is one of the "must be known" conditions in neurology because it belongs to the list of "treatable disorders". Here, we present two cases which highlight the importance of early diagnosis. Additionally, we provide a discussion on up to date diagnostic approach to this life-threatening disorder.