We present 2 unrelated cases of tick paralysis presenting within a 2-month period in the greater Philadelphia region, a geographic area in which this disease is highly unusual. Our first patient demonstrated early onset of prominent bulbar palsies, an atypical presentation. Our second patient, residing in a nearby but distinct community, presented with ascending paralysis 2 months after the first. The atypical presentation of our first patient and the further occurrence within a few months of a second patient, both from the Northeastern United States where this diagnosis is rarely made, suggest the need to maintain a high index of suspicion for this disease in patients presenting with acute onset of cranial nerve dysfunction or muscle weakness. Through simple diagnostic and therapeutic measures (ie, careful physical examination to locate and remove the offending tick), misdiagnosis and unnecessary morbidity can be avoided.
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http://dx.doi.org/10.1097/01.pec.0000181414.18612.24 | DOI Listing |
Retin Cases Brief Rep
October 2024
Singapore National Eye Centre, Singapore.
Purpose: We describe an atypical presentation of an 11-year-old female with enhanced S-cone syndrome (ESCS).
Methods: Case report. The patient underwent a thorough ophthalmic examination and investigations such as colour fundus photography, optical coherence tomography, fundus autofluorescence, fluorescein and indocyanine angiography, an electroretinogram and genetic testing.
BJS Open
December 2024
Institute of Cardiovascular Sciences, University College London, London, UK.
Background: While most thyroid nodules are benign, 7-15% are malignant. Patients with indeterminate thyroid nodules (specifically Bethesda IV/Thy3f) often undergo diagnostic hemithyroidectomy to reach a diagnosis on final histology. The aim of this study was to assess the feasibility of circulating large extracellular vesicles as diagnostic biomarkers in patients presenting with Thy3f thyroid nodules.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Instituto Neurológico de Colombia, Medellin, Antioquia, Colombia.
Background: This study examines an exceptional case of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), a hereditary cerebrovascular disease caused by a mutation in the notch3 gene. In contrast to typical cases manifesting before the age of 50 with migraines, this report highlights an atypical presentation in a 70-year-old woman with no history of migraines nor cognitive impairment.
Method: The patient, with a history of type 2 diabetes, hypothyroidism, and dyslipidemia, was initially treated for cognitive impairment and behavioral changes under suspicion of autoimmune encephalitis.
Alzheimers Dement
December 2024
University of California San Francisco (UCSF), San Francisco, CA, USA.
Background: As new anti-amyloid immunotherapies emerge for Alzheimer's disease (AD), it is clear that early diagnosis of AD pathology is crucial for treatment success. This can be challenging in atypical presentations of AD and, together with our reliance on CSF or PET scans, can, at times, lead to delayed diagnosis. Here, we further explore the possible role of plasma tau phosphorylated at threonine 217 (P-tau217) for the detection of primary AD or AD co-pathology when frontotemporal dementia spectrum disorders are the main clinical presentation.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Alzheimer Center Amsterdam, Amsterdam UMC, Amsterdam, Netherlands.
Background: Tau-PET is a diagnostic tool with high sensitivity and high specificity for discriminating Alzheimer Disease (AD) dementia from other neurodegenerative disorders in well-controlled research environments. The role of tau-PET in "real-world" clinical practice, however, remains to be established. We hypothesize that tau-PET will lead to some changes of the pre-PET clinical diagnosis and will improve diagnostic certainty and patient management in patients with considerable diagnostic uncertainty.
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