Biomedical subjects
Publications and source records attributed to Scott D Eggers.
In a patient with a rapidly progressive neurological condition with ataxia and cognitive complaints, Creutzfeldt-Jakob disease (CJD) is often high in the differential, particularly when there is an elevated CSF 14-3-3 protein level. We present a case of anti-glutamic acid decarboxylase antibody (anti-GAD65) positive cerebellar ataxia associated with cognitive complaints and elevated CSF 14-3-3 protein.
Although acute intermittent porphyria presents with dramatic neurological findings, the diagnosis is difficult. An 18-year-old woman had a clinical picture of porphyric encephalopathy. Magnetic resonance (MR) imaging demonstrated multiple large contrast-enhancing subcortical white matter lesions, which regressed with glucose and hematin infusions. Diffusion-weighted MR imaging was normal, and MR spectroscopy excluded acute demyelination or tissue necrosis. MR findings of acute intermittent porphyria can differ from those in posterior reversible encephalopathy syndrome by virtue of intense contrast enhancement. Because diffusion-weighted MR imaging and spectroscopy were normal, the lesions are likely caused by reversible vasogenic edema and transient breakdown of the blood-brain barrier.