RESUMEN
Background: Creutzfeldt-Jakob disease (CJD) is a devastating degenerative brain disorder caused by an abnormal isoform of a cellular glycoprotein which is known as the prion protein. A diagnosis of CJD is usually based on specific clinical signs, EEG and MRI findings, as well as the presence of the 14-3-3 protein in the cerebrospinal fluid. Although end-stage CJD usually has a typical clinical presentation, early symptoms may be variable. Case presentation: We present an uncommon case of CJD which manifested with primary progressive aphasia, leading to an incorrect diagnosis of frontotemporal dementia. EEG performed eight months after symptom onset revealed focal periodic sharp wave complexes that later evolved into diffuse EEG abnormalities characteristic of CJD. Brain MRI also suggested the diagnosis of CJD. Later, the patient developed rapidly progressive dementia, visual symptoms, ataxia, extrapyramidal symptoms, followed by dysphagia and mutism, and died 34â¯months after disease onset. Discussion and conclusion: PPA is a relatively uncommon first manifestation of CJD, occurring only in about 1% of all CJD cases. Our case is also remarkable because we were able to capture focal periodic sharp wave complexes at the stage of the CJD when aphasia was the only clinical manifestation. We demonstrate that both brain MRI and wake and sleep EEG should be a mandatory part of the diagnostic workup for patients presenting with primary progressive aphasia.
RESUMEN
We review the current approaches and their feasibility to treat dystonic anterocollis by injecting longus colli muscle (LCo) with botulinum neurotoxin (BoNT) as well as present our personal experiences in this field compared with the findings from previously published studies. First, we searched the PubMed database for the publications reporting patients who received LCo injections for anterocollis; we also thoroughly examined the references included in each of the found publications. Second, we present and analyze our own experiences in injecting LCo under EMG guidance in patients with dystonic anterocollis due to heredodegenerative disorders. We found 11 publications describing administration of LCo injections for the treatment of dystonic anterocollis in a total of 28 patients with primary dystonia aged between 21 and 80 years. The mean age of our patients was 44.8 years with the mean anterocollis duration being 15 months. OnabotulinumtoxinA in a dose of up to 35 U per LCo muscle was not associated with the development of transient dysphagia. The mean percentage of patient satisfaction was 36.3%, and the mean duration of the beneficial effect was 2.5 months. All patients agreed to receive a repeat injection. We provide a set of empirically based suggestions on the current use of BoNT injections to LCo for managing anterocollis in outpatient clinics, including pretreatment work-up, injection technique, and dose range.