A man in his forties with acute onset of speech impairment and unilateral paresis. / En mann i 40-årene med akutt innsettende talevansker og ensidig lammelse.

BACKGROUND: Stroke has several causes and the diagnostic investigation can be challenging. Neurosyphilis occurs when Treponema pallidum infects the central nervous system, and is a rare cause of stroke. CASE PRESENTATION: A man in in his late forties with diabetes mellitus and overweight presented with headache, speech impairment and right-sided stroke symptoms. He also had cognitive impairment and psychiatric symptoms. He underwent intravenous thrombolysis, and standardised stroke investigation was without clear findings. Cerebral MRI demonstrated non-specific subtle changes in the primary motor cortex in the left frontal lobe. However, lumbar puncture revealed elevated white blood cell count, and syphilis tests were positive. INTERPRETATION: Diagnosis of syphilis is often difficult and requires specific suspicion. Due to increasing incidence of the disease and its therapeutic consequences, alertness around the condition is important. Neurosyphilis should be suspected in young patients with stroke symptoms in the absence of risk factors and/or with cryptogenic strokes, especially in the presence of risk factors for syphilis infection and in patients from endemic areas.

White matter hyperintensity microstructure in amyloid dysmetabolism.

Accumulating evidence suggests associations between cerebrovascular disease (CVD) and Alzheimer's disease (AD). White matter hyperintensities of presumed vascular origin (WMHs) are increased in subjects with mild cognitive impairment (MCI) and AD, but the exact pathomechanistic link is unknown. The current study investigated effects of amyloid dysmetabolism on the microstructure of WMHs in subjects with MCI or subjective cognitive decline (N = 51), dichotomized according to pathological or normal levels of amyloid-ß peptide (Aß42) in cerebrospinal fluid (CSF). Thirty-one subjects with low CSF Aß42 (Aß+) and 20 subjects with normal CSF Aß42 (Aß-) were assessed with magnetic resonance diffusion tensor imaging (DTI), and fractional anisotropy (FA), radial diffusivity (DR), axial diffusivity (DA), and mean diffusivity (MD) were determined. There were no significant differences in WMH volume or distribution between the groups, and neither age nor WMH volume had significant impact on the DTI indices. Nevertheless, there were significantly higher DA, DR, and MD in WMHs in Aß+ relative to Aß-; however, no differences in FA were found. The present results suggest that amyloid accumulation is associated with impaired structural integrity (e.g. relating to more extensive demyelination and loss of axons) in WMHs putatively adding to effects of ischemia.

Amyloid Dysmetabolism Relates to Reduced Glucose Uptake in White Matter Hyperintensities.

Alzheimer's disease (AD) is the most prevalent neurodegenerative disorder and cause of dementia and is characterized by amyloid plaques and neurofibrillary tangles. AD has traditionally been considered to primarily affect gray matter, but multiple lines of evidence also indicate white matter (WM) pathology and associated small-vessel cerebrovascular disease. WM glucose delivery and metabolism may have implications for local tissue integrity, and [18F]-fluorodeoxyglucose positron emission tomography (FDG-PET) may be helpful to assess neuroglial and axonal function in WM. Hypothesizing that affection of oligodendroglia will be associated with loss of glucose uptake, we aimed to investigate glucose metabolism in magnetic resonance imaging (MRI) white matter hyperintensities (WMHs) and normal-appearing WM in patients with and without evidence of amyloid plaques. Subjects with mild cognitive impairment or subjective cognitive decline were included and dichotomized according to pathological (Aß+) or normal (Aß-) concentrations of cerebrospinal fluid amyloid-ß 1-42. A total of 50 subjects were included, of whom 30 subjects were classified as Aß(+) and 20 subjects as Aß(-). All subjects were assessed with MRI and FDG-PET. FDG-PET images were corrected for effects of partial voluming and normalized to cerebellar WM, before determining WMH FDG-uptake. Although there were no significant differences between the groups in terms of age, WMH volume, number of individual WMHs, or WMH distribution, we found significantly lower (p = 0.021) FDG-uptake in WMHs in Aß(+) subjects (mean = 0.662, SD = 0.113) compared to Aß(-) subjects (mean = 0.596, SD = 0.073). There were no significant group differences in the FDG-uptake in normal-appearing WM. Similar results were obtained without correction for effects of partial voluming. Our findings add to the evidence for a link between Aß dysmetabolism and WM pathology in AD.

Hippocampal complex atrophy in poststroke and mild cognitive impairment.

To investigate putative interacting or distinct pathways for hippocampal complex substructure (HCS) atrophy and cognitive affection in early-stage Alzheimer's disease (AD) and cerebrovascular disease (CVD), we recruited healthy controls, patients with mild cognitive impairment (MCI) and poststroke patients. HCSs were segmented, and quantitative white-matter hyperintensity (WMH) load and cerebrospinal fluid (CSF) amyloid-ß concentrations were determined. The WMH load was higher poststroke. All examined HCSs were smaller in amyloid-positive MCI than in controls, and the subicular regions were smaller poststroke. Memory was reduced in amyloid-positive MCI, and psychomotor speed and executive function were reduced in poststroke and amyloid-positive MCI. Size of several HCS correlated with WMH load poststroke and with CSF amyloid-ß concentrations in MCI. In poststroke and amyloid-positive MCI, neuropsychological function correlated with WMH load and hippocampal volume. There are similar patterns of HCS atrophy in CVD and early-stage AD, but different HCS associations with WMH and CSF biomarkers. WMHs add to hippocampal atrophy and the archetypal AD deficit delayed recall. In line with mounting evidence of a mechanistic link between primary AD pathology and CVD, these additive effects suggest interacting pathologic processes.

Two adults with adrenal myelolipoma and 21-hydroxylase deficiency.

We present incidentally discovered adrenal myelolipomas in two adult males with untreated congenital adrenal hyperplasia (CAH). The patients had simple virilizing form of CAH due to mutations in the CYP21 gene coding for 21-hydroxylase; one was heterozygous for the I172N mutation and the other compound heterozygous for the I172N and I2splice mutations. The masses were not removed since myelolipomas are considered benign tumors, and the tumor size did not increase during four- and nine-year observation periods. An adrenal myelolipoma is an important exception to the rule that large tumours should be removed. Untreated CAH with prolonged excessive ACTH stimulation might contribute to the growth of adrenal masses. CAH should be considered as a differential diagnosis of patients with adrenal masses or adrenal myelolipomas.