A Man With Progressive Chorea and Abnormal Trunk Movements.

Neuroacanthocytosis (NA) syndromes are a group of rare genetic disorders characterized by the presence of abnormally shaped red blood cells (acanthocytes) and the progressive degeneration of the basal ganglia, leading to various neurological and systemic symptoms. The "rubber man" gait, characterized by distinctive flexions of the neck (manifesting as head drops) and the trunk, is seen in advanced chorea-acanthocytosis. A 35-year-old male patient presented with progressive abnormal movements affecting his limbs and face, along with dysphagia resulting from involuntary protrusion of the tongue and biting of the cheeks and lips over the past three years. He used to place the food on the back of his tongue and throw his head back to begin swallowing. He also kept a towel in his mouth to absorb saliva and prevent cheek and lip biting. The neurologic examination revealed generalized chorea, severe orolingual dystonia (eating dystonia), and sudden loss of tone while walking, resulting in flexion of the trunk followed by extension. We believe that these features could serve as definitive clinical indicators for chorea-acanthocytosis, providing valuable diagnostic insights, especially when accompanied by self-mutilatory mouth movements or feeding-related tongue dystonia.

Guillain-Barre Syndrome-A Rare Cause of Quadriparesis after the Bentall Procedure for Type A Aortic Dissection.

Neurological complications following aortic surgery are most often cerebrovascular accidents due to embolism, or spinal infarcts resulting in hemiparesis or hemiplegia. Guillain-Barre syndrome is a rare cause of quadriparesis. Here, we report a 49-year old male who presented with acute aortic dissection and underwent the Bentall procedure following which he developed quadriparesis, subsequently diagnosed to be a case of Guillain-Barre syndrome. He was successfully treated with intravenous immunoglobulin.

Bilateral Posterior Ischemic Optic Neuropathy as a Presentation of Severe Uncontrolled Diabetes Mellitus: A Case Report.

INTRODUCTION: Posterior ischemic optic neuropathy (PION) is a rare, potentially devastating condition characterized by acute, painless vision loss in one or both eyes and is associated with poor outcomes. Compared with anterior ischemic optic neuropathy, little data has been published on PION, mainly in the form of case reports and anecdotal observations. This is in large part due to the low incidence of this disease. CASE REPORT: Here, we present a newly diagnosed 45-year-old diabetic female with uncontrolled blood sugars and sudden onset bilateral sequential visual loss with left complete ophthalmoplegia with normal fundus, neuroimaging of brain, orbits, and spinal cord. She was empirically treated with intravenous steroids and insulin but her immunologic, demyelinating, and infectious etiologies workup were also normal. Ultimately, the patient was diagnosed with vision loss secondary to diabetic cranial neuropathy and PION given the rest of her evaluation was unrevealing. At discharge her visual acuity was finger counting in right eye and perception of light in left eye with an improvement in bilateral extra ocular movements. At 3 months follow-up her right eye visual acuity had improved to 6/60 while the left eye remained same with normal bilateral extra ocular movements. CONCLUSION: Diabetic cranial neuropathy usually involves single or sequential nerve involvement but combined involvement of bilateral optic nerve and left 3, 4, and 6th cranial nerve involvement is unique to the current presentation. PION should be kept in mind in patients presenting with sudden painless bilateral vision loss with normal fundoscopy in the background of systemic disease like diabetes mellitus, though it usually occurs postoperatively.

A telephonic survey of health-related quality of life of outpatient department dropout Parkinson's disease patients during the COVID-19 pandemic.

INTRODUCTION: COVID-19 pandemic has severely jeopardized world health care. The most affected population is of elderly and patients with chronic diseases. The current study aims to investigate the health-related quality of life of Parkinson's disease outpatient dropout patients. METHODS: In this cross-sectional telephonic observational study, we investigated the demographic features and quality of life of Idiopathic PD patients (cases) attending neurology clinics during the pre-COVID-19 pandemic for at least 6 months and dropped out after that. We then compared them with their matched controls, who started visiting clinics once the OPD began functioning again. We used the European quality of life (EQ-5Q-5D) scale to assess health-related quality of life (HRQOL). RESULTS: We recruited 31 PD patients and their 42 matched controls. 90.3% of cases reported worsening PD symptoms, and 83.8% were unable to visit a doctor despite the need. The slowness of activities, increase in tremors, and sleep disturbances were the common complaints. 26% of the patients had difficulty procuring the medicines. EQ-5D-5L and Visual analog scale scores were significantly lower in cases versus controls with between mean group difference of - 0.2837 (p < 0.001, 95% CI - 0.4269 to - 0.1377) and - 21.985 (p < 0.001, 95% CI - 31.8 to - 12.1), respectively, depicting the poor quality of life of cases. CONCLUSION: There is a significant worsening of disease status and HRQOL of PD patients not attending OPD, which needs urgent interventions. There is an unmet need to actively track these patients and address their issues to provide holistic health care.

Neuropsychiatric Features, Health-Related Quality of Life, and Caregiver Burden in Parkinson's Disease.

Aim: Parkinson's disease (PD) is a progressive neurodegenerative disease and significantly impacts patients and their caregivers. The current study aims at recognizing its neuropsychiatric symptoms, its impact on the health-related quality of life (HRQOL) of the patients, and the caregiver burden in a middle- to-low-income country. Methods: We conducted a cross-sectional survey of 73 idiopathic Parkinson's disease (IPD) patients and their caregivers from January 2021 to June 2021. Neuropsychiatric Inventory (NPI-12) and Parkinson's disease questionnaire (PDQ-39) were used to assess patients' symptoms and HRQOL, respectively. We used the Zarit caregiver burden interview (ZBI) and Hamilton depression scale (Ham-D) for the caregiver's burden assessment. Results: Of the 73 patients, 43 (59%) were men, and 30 (41%) were women. Their mean age was 60.25 years (± 11.1), and the mean duration of PD was 6.4 years (± 3.4). Eighty-six percent of the patients reported having one or more neuropsychiatric symptoms. HRQOL, as indicated by PDQ-39, correlated most significantly with H and Y staging (r = 0.680, P < 0.001) of the disease. Sixty-eight percent of the caregivers felt a disease burden, and 55% had depression. On regression analysis, NPI total score on caregiver burden (beta = 0.883, P < 0.001, confidence interval [CI] of 1.087 to 1.400,) and H and Y staging on depression (beta = 0.772, P < 0.001, [CI of 0.629 to 0.934) were having the most decisive impact. Conclusion: Our study showed the presence of frequent neuropsychiatric symptoms in PD patients. It has a detrimental effect on the quality of life of patients and results in a significant increase in caregiver burden and depression among them.

Zonisamide in Parkinson's disease: a current update.

Parkinson's disease (PD) is a progressive neurodegenerative disease due to the depletion of the neurotransmitter dopamine in basal ganglia. There is a scarcity of available therapies for motor and non-motor symptoms of PD. Zonisamide (ZNS) may be one such potential candidate to alleviate PD symptoms. It was serendipitously found to be useful for PD in a patient with both epilepsy and PD. Since then, there have been many clinical trials, case series, observational studies, and case reports published supporting the efficacy of ZNS in PD. This review focuses on the efficacy and usefulness of ZNS in various motor and non-motor symptoms of PD. A predefined inclusion and exclusion criteria were used for the search protocol and databases searched were PubMed, Cochrane Library, Ovid, and clinicaltrials.gov. Most of the randomized clinical trials used UPDRS III as the primary efficacy point and showed positive results favouring ZNS. This review shows that there is evidence of the efficacy of ZNS in motor symptoms as an adjunctive therapy to levodopa, but for non-motor symptoms, the evidence is lacking and needs further investigation.

Bobble-head doll syndrome with supra-sellar arachnoid cyst.

A 19-year-old woman reported progressively worsening involuntary head movements since the age of 7. She had visited multiple hospitals and been labelled as having a functional disorder. Detailed evaluation identified a large supra-sellar arachnoid cyst with hydrocephalus. We made a diagnosis of bobble-head doll syndrome, which is only very rarely associated with suprasellar arachnoid cyst. Her symptoms improved rapidly following endoscopic third ventriculostomy with cyst fenestration and gradual decompression of the ventricles. Clearly, not all suppressible movements should be labelled as psychogenic.