Internal medicine
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X-linked Charcot-Marie-Tooth disease type 1 (CMTX1), the most common form of CMTX, is caused by gap-junction beta 1 (GJB1) mutations. We herein report a 25-year-old Japanese man with disorientation, right hemiparesis, and dysarthria. Brain magnetic resonance imaging (MRI) showed high signal intensities in the bilateral cerebral white matter on diffusion-weighted imaging. ⋯ Gln57*. MRI abnormalities shifted from the cerebral white matter to the corpus callosum and had disappeared at the five-month follow-up. Transient changes between these lesions may indicate CMTX1.
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Case Reports
Meningovascular Neurosyphilis with Cerebral Hemorrhaging in a Human Immunodeficiency Virus-1-positive Patient.
Meningovascular neurosyphilis is a rare manifestation of early neurosyphilis that causes infectious arteritis and ischemic infarction. We herein report a 44-year-old man with meningovascular neurosyphilis who presented with cerebral hemorrhaging. He complained of nausea, vomiting and lightheadedness. ⋯ Positive cerebrospinal fluid syphilis tests confirmed the diagnosis. He recovered after treatment for neurosyphilis and anti-HIV therapy. Our case highlights the importance of considering meningovascular neurosyphilis in young patients with multiple instances of cerebral hemorrhaging.
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Adult-onset Still's disease (AOSD) is a systemic inflammatory disorder. Severe liver injury has rarely been reported, although liver enzyme elevation is a common complication of AOSD. ⋯ Relapsed AOSD was refractory to corticosteroid reintroduction and required immunosuppressants. Severe liver injury with AOSD is pathologically characterized by extensive lobular infiltration of CD8-positive cells, and we should consider additive immunosuppressive agents on corticosteroids for treatment.