Project description:Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with various neurological manifestations, including tremor. Here, we report a case involving a 68-year-old man with an 8-year history of tremor in his right arm. Subsequently, examination revealed that the patient was suffering from a low-frequency, high-amplitude, and posture-induced proximal arm tremor elicited by sustained arm abduction with flexed elbows (wing-beating tremor), which was partially improved by zonisamide treatment. Abnormal expansion of GGC repeats in the NOTCH2NLC gene confirmed the diagnosis of NIID. This case highlights the fact that unilateral wing-beating tremor can be a manifestation of NIID. Zonisamide may be effective for controlling tremors associated with NIID.
Project description:The beating of a pulmonary vein during cardiac catheterization is a rare phenomenon caused by the heart beating through the pericardial effusion when a cardiac tamponade occurs. This "beating pulmonary vein" sign is useful for early detection of a tamponade before circulatory collapse occurs.
Project description:Functional tremor (FT) is the most common phenotype of functional movement disorders (FMD). Its diagnosis can often be challenging. While positive signs such as tremor variability, distractibility, and entrainment support a diagnosis of FT, these diagnostic clues may not always be present and can be challenging to assess. In this case series, we identify another examination technique which could be of value when assessing FT. In our Movement Disorders clinic, charts were retrospectively reviewed for relevant clinical information. Video examinations were conducted. Obtained videos were either synchronous, via the use of screen recording software during telehealth visits or asynchronous, from self-recorded home videos. In both settings, patients were instructed to self-record their tremor using their phone cameras. Three patients with FT or comorbid FT were identified as demonstrating a unique examination sign. Videos showed an improvement or suppression of the tremor when the phone was held by the affected hand. When compared to a patient with tremor-dominant Parkinson's disease serving as a control, this "selfie sign" was not observed. These observations are preliminary and larger studies are needed to confirm the usefulness of the selfie sign in diagnosing FT. Patient-recorded videos of their tremor can be a convenient and practical way of evaluating suspected FT, especially when paroxysmal or variable symptoms limit the usefulness of classic signs often assessed in the clinic.
Project description:Surprisingly little has been written about the combined clinical entity, essential tremor-Parkinson's disease (ET-PD), which is the result of a double disease hit. We carefully quantified tremor burden using a wide range of measures (tremor severity, tremor-related disability, tremor-related quality of life) and furthermore, studied additional motor and non-motor features in ET-PD.In this prospective, clinical-epidemiological study, we performed a standardized, structured clinical evaluation of 27 ET-PD patients, comparing them to age-matched samples of 35 PD and 109 ET patients.The number of hours/day shaking was lowest in PD (median=3.0), intermediate in ET (median=10.0) and highest in ET-PD (median=14.0) (p<0.001). All measures of mobility and balance (Berg Balance test, Activities-specific Balance Confidence Scale, Timed Up and Go test) worsened across groups in a stepwise manner from ET to PD to ET-PD (p<0.05). Mini-mental state test scores worsened (p=0.002) and daytime sleepiness increased (p=0.002) across groups from ET to PD to ET-PD.The ET-PD patient seems to be more than just a PD patient with a little more kinetic tremor. Aside from a significantly greater tremor burden, ET-PD patients exhibited more cognitive and sleep problems and more mobility and balance problems than patients with isolated PD.
Project description:IntroductionDengue is a common febrile illness caused by Dengue virus and spread by Aedes mosquitoes. The neurological complications like encephalopathy or encephalitis or immune-mediated neurological syndromes are uncommon though. Discrete neuroimaging findings in this setting are even rarer. We report a case of dengue encephalitis with uncommon MRI features in a young female.Case presentationThe patient presented with complains of fever, vomiting, weakness in all limbs and difficulty in speech. Neurological examination revealed bilateral horizontal gaze palsy with impaired oculo-cephalic reflex, bulbar dysarthria and quadriplegia with bilateral planters up-going. Laboratory reported anemia, thrombocytopenia and positive NS1 antigen while excluding other tropical and immunological diseases. Brain MRI revealed extensive thalamic involvement as unique "double-doughnut" sign along with lesions in brainstem. The patient received supportive treatment in intensive unit and was discharged following improvement in clinical condition and laboratory reports.Clinical discussionDengue can infect the central nervous system directly as encephalitis or can have neurological consequences following multi-organ dysfunction and shock as encephalopathy or post-infection immunological syndromes as Guillain-Barré Syndrome or cerebrovascular complications or dengue muscle dysfunction. The MRI appearance of "double-doughnut" sign points towards dengue encephalitis in appropriate setting.ConclusionA high index of suspicion is required to make a diagnosis of dengue encephalitis. The "double-doughnut" sign in MRI sequences has the potential to become a diagnostic marker for dengue encephalitis.