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Gelastic seizures (GS) are a rare form of epilepsy characterized by inappropriate, uncontrolled laughter. They are highly associated with abnormal cognitive development and behavioral problems in patients. Research has shown that GS can originate from hypothalamic hamartomas (HH), nonneoplastic masses consisting of gray matter with large and small neurons interspersed with glial nuclei. GS have also been observed in patients with frontal and temporal lobe lesions. The patient in this case report is a 40-year-old man with a past medical history significant for brain tumor, diabetes mellitus, and schizophrenia who presented with a long standing history of sudden, involuntary laughter occurring 2-3 times a week since 8 years old. Since the onset of these laughing spells the patient has displayed gradual cognitive impairment and increasing behavioral problems. Subsequent EEG (21-channel electroencephalogram) showed focal epileptiform activity in the right frontotemporal region and MRI studies revealed a mass arising from the hypothalamus suggestive of a HH. Other conditions should be considered in the differential diagnosis for laughing spells and distinguishing different causes can be challenging. As demonstrated by this case report, in patients with behavioral issues, especially those with inappropriate uncontrolled laughter, gelastic seizures need to be included in the differential diagnosis. Thus, a thorough workup should include neuroimaging with attention to the suprasellar region and EEG. Accurate, early diagnosis and patient education are critical in avoiding excessive and unnecessary treatments. This condition may be pharmacoresistant and is often associated with progressive cognitive and behavioral issues. Studies have shown a surgical treatment approach may be effective. [ABSTRACT FROM AUTHOR]

Miller Fisher Syndrome (MFS) is a rare variant of Guillain-Barré Syndrome (GBS) that has a geographically variable incidence. It is largely a clinical diagnosis based on the cardinal clinical features of ataxia, areflexia, and opthalmoplegia, however, other neurological signs and symptoms may also be present. Serological confirmation with the anti-GQ1b antibody is available and allows for greater diagnostic certainty in the face of confounding symptoms. A self-limiting course is typical of MFS. The following case report is that of a patient who presented with generalized weakness, somatic pain, inability to walk, and diplopia following an upper respiratory illness. The patient exhibited the classic triad of ataxia, areflexia, and opthalmoplegia characteristic of MFS, but also had less typical signs and symptoms making for a more challenging diagnostic workup. Our suspected diagnosis of MFS was serologically confirmed with positive anti-GQ1b antibody titer and the patient was successfully treated with Intravenous immune globulin (IVIG). [ABSTRACT FROM AUTHOR]

Sporadic Creutzfeldt-Jakob disease is a rare neurodegenerative disorder of unknown etiology that causes rapidly progressive dementia. This disease is uniformly fatal and most patients die within 12 months. Clinical findings include myoclonus, visual disturbances, and cerebellar and pyramidal/extrapyramidal signs in addition to rapidly progressive cognitive and functional impairment. These findings are all non-specific and it is often difficult and challenging to diagnose premortem because of low awareness and clinical suspicion. We present a 66-year-old woman with a 5-month history of rapidly progressive dementia. After a series of extensive diagnostic examinations and continuous follow-up, she was diagnosed with probable sporadic Creutzfeldt-Jakob disease based on Centers for Disease Control and Prevention (CDC) criteria, with key findings of rapidly progressive dementia, blurry vision, extrapyramidal signs (cogwheel rigidity), and abnormal hyperintensity signals on diffusion-weighted MRI. Her symptoms progressively worsened and she died 7 months after the onset. The postmortem brain autopsy demonstrated the presence of abnormal protease-resistant prion protein by Western Blot analysis. A literature review was performed on differential diagnoses that present with rapidly progressive dementia and thereby mimic sporadic Creutzfeldt-Jakob disease. These include Alzheimer's disease, dementia with Lewy Bodies, frontotemporal dementia, meningoencephalitis, corticobasal degeneration, progressive supranuclear palsy, CADASIL, and paraneoplastic encephalomyelitis. [ABSTRACT FROM AUTHOR]

Background: Cardiometabolic disorders may accelerate the progression of Alzheimer's disease (AD), potentially impacting ethnic-racial groups with a higher prevalence of diabetes, obesity, and cardiovascular disease, though limited data exists on Native Hawaiians and Pacific Islanders (NHPI) populations., Objective: This study aims to examine the prevalence of diabetes and associated comorbidities among AD patients from different ethnic-racial groups - Asians, Whites, and NHPIs - in Hawaii, with a focus on identifying risk factors linked to AD., Method: A retrospective review was conducted on AD patient records from a single center in Hawaii, spanning June 2018 to June 2024. Variables assessed included age at diagnosis, sex, race, insurance type, alcohol use, comorbidities, and Mini-Mental State Examination (MMSE) scores. Statistical comparisons were conducted to identify group differences., Results: Among 540 patients (256 Asians, 89 NHPIs, 182 Whites, and 13 Others), NHPIs exhibited the highest rates of hypertension (66.3%), diabetes (31.5%), obesity (23.6%), congestive heart failure (13.5%), and coronary artery disease (6.7%). Whites exhibited a higher prevalence of anxiety (18.1%), cardiac arrhythmia (15.4%), and alcohol use (37.4%) compared to Asians and NHPIs. Females had lower mean MMSE scores compared to males (18.3 ± 7.4 vs. 21.0 ± 6.2, respectively), along with higher rates of anxiety (16.3%), hypertension (62.2%), hyperlipidemia (47.4%), and underweight body mass index (10.8%)., Conclusion: NHPI AD patients in Hawaii face a higher prevalence of diabetes and a greater burden of cardiometabolic disorders compared to other racial groups. White AD patients demonstrate higher rates of anxiety, alcohol consumption, and cardiac arrhythmia compared to Asians and NHPIs. Females with AD had worse cognitive function compared to males., Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. University of Hawaii Human Studies Program Office of Research Compliance issued approval 2020-01010. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Wong et al.)

The uncommon presentation of simultaneous brain and lung lesions in an immunocompetent adult patient with frequent travel to a mycobacterium tuberculosis (MTB) endemic area requires high clinical suspicion for central nervous system (CNS) MTB, as this disease often results in severe neurologic morbidity and mortality. Non-specific and subacute symptoms make the diagnosis of CNS MTB clinically challenging, and a workup with imaging and microbiological studies such as acid-fast bacilli staining, nucleic acid amplification testing, and tissue culture must not delay prompt treatment with anti-tuberculosis therapy. This case illustrates the complex challenges of medical diagnosis and multi-disciplinary decision-making involved in the workup of CNS MTB., (©Copyright 2022 by University Health Partners of Hawai‘i (UHP Hawai‘i).)

Inflammatory myopathy is a common cause of bilateral muscular weakness in adults. Although not as common as polymyositis, inclusion body myositis (IBM) is a form of inflammatory myopathy characterized by chronic progressive muscle inflammation and often goes undiagnosed and untreated. IBM patients most commonly present with proximal lower extremity weakness and may have normal creatine kinase (CK) levels. A high level of clinical suspicion is required for prompt and accurate diagnosis of IBM, which is diagnosed definitively with a muscle biopsy. The patient described in this case report is a 68-year-old man who initially presented with both bilateral symmetric proximal lower extremity and distal upper extremity weakness. IBM was suspected through history, electromyography, and definitively diagnosed with muscle biopsy. The patient was subsequently initiated on prednisone therapy and physical therapy, with improvement in muscular strength after 2 months. In patients presenting with bilateral extremity weakness and normal CK level, the diagnosis of IBM should be included in the differential diagnosis and muscle biopsy performed for appropriate cases.