Stroke after initiation of interferon-beta treatment for relapsing-remitting disseminated white matter disease

BACKGROUND: Interferon-beta (INF-beta) is effective and used in reducing exacerbation frequency and disease progression in multiple sclerosis. In certain circumstances, INF-beta can lead to rare side effects. AIMS OF THE STUDY: We report the case of a 34-year-old female patient satisfying the McDonald criteria of multiple sclerosis without showing typical pathologic changes in cerebrospinal fluid (CSF). After introduction of INF-beta treatment, she quickly developed further progression of her disseminated neurological symptoms and finally an ischemic cerebral infarction. METHODS: Evaluation of the patient included arterial angiography, magnetic resonance and positron emission tomography, histopathological assessment as well as a broad spectrum of serum and CSF analysis. RESULTS: All diagnostic evaluations and the clinical course revealed evidences for a primary angiitis of the CNS. We discuss the possible worsening due to inappropriate INF-beta treatment in cerebral angiitis promoting severe cerebrovascular insufficiency. CONCLUSION: The authors suggest that all diagnostic multiple sclerosis criteria including typical CSF findings should be ascertained before INF-beta treatment is initiated.     

A novel KCNH2 mutation as a modifier for short QT interval

In a 34-year-old man showing short QT interval (QTc 329 ms), we identified a novel C-terminal KCNH2 mutation, R1135H. Using a heterologous expression system with CHO cells, the mutant channels were found to display a significantly slow deactivation, which resulted in a gain-of-function for reconstituted ‘I_Kr’ channels. This mutation could modify clinical phenotypes for this patient.     

The radiological diagnosis of fenestral otosclerosis: the utility of histogram analysis using multidetector row CT

Bone density measurements using high-resolution CT have been reported to be useful to diagnose fenestral otosclerosis. However, small region of interest (ROI) chosen by less-experienced radiologists may result in false-negative findings. Semi-automatic analysis such as CT histogram analysis may offer improved assessment. The aim of this study was to evaluate the utility of CT histogram analysis in diagnosing fenestral otosclerosis. Temporal bone CT of consecutive patients with otosclerosis and normal controls was retrospectively analyzed. The control group consisted of the normal-hearing contralateral ears of patients with otitis media, cholesteatoma, trauma, facial nerve palsy, or tinnitus. All CT images were obtained using a 64-detector-row CT scanner with 0.5-mm collimation. AROI encompassing 10 × 10 pixels was placed in the bony labyrinth located anterior to the oval window. The mean CT value, variance and entropy were compared between otosclerosis patients and normal controls using Student’s t test. The number of pixels below mean minus SD in the control (%Low_cont) and total subjects (%Low_total) were also compared. In addition, the area under the receiver operating characteristic curves (AUC) value for the discrimination between otosclerosis patients and normal controls was calculated. 51 temporal bones of 38 patients with otosclerosis and 30 temporal bones of 30 control subjects were included. The mean CT value was significantly lower in otosclerosis cases than in normal controls (p < 0.01). In addition, variance, entropy, %Low_cont and %Low_total were significantly higher in otosclerosis cases than in normal controls (p < 0.01, respectively). The AUC values for the mean CT value, %Low_cont and %Low_total were 0.751, 0.760 and 0.765, respectively. In conclusion, our results demonstrated that histogram analysis of CT image may be of clinical value in diagnosing otosclerosis.