Neurocase最新文献

Introduction: Frontotemporal dementia (FTD) is a rare and often hereditary type of dementia, usually developing under the age of 65 years. Mutations in the gene encoding the prion protein (PRNP), typically resulting in Creutzfeldt-Jakob disease, are an extremely rare cause of FTD phenotype. The clinical spectrum of this genetic form of FTD has not been fully elucidated, and no case carrying a PRNP gene mutation has been previously described in the Greek population.

Case report: This case report describes a patient with phenotype of probable behavioral variant frontotemporal dementia (bvFTD) with positive family history of dementia.A mutation in the prion gene (PRNP) is identified as the genetic cause of the behavioral FTD phenotype of the patient.

Conclusion: Heterozygous c.623G>A (p.Arg208His) genotype may be responsible for FTD phenotype. This case shows the necessity of genetic testing for possible mutations in the prion gene in patients with bvFTD and positive family history of dementia.

Mutations in sequestosome 1 (SQSTM1) gene have been associated with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), frontotemporal dementia - ALS (FTD-ALS), and very recently, progressive supranuclear palsy (PSP), paget disease of bone (PDB), distal myopathy with rimmed vacuoles (DMRV), and neurodegenerative disorders in childhood. We present a case of right temporal variant of FTD (rtvFTD) with heterozygous mutation (c.823_824del(p.Ser275Phefs *17)) in SQSTM1 gene.

A 71-year-old man attempted suicide by self-inflicting a cranial injury with a metallic chopstick following a family dispute. CT imaging showed penetration through the frontal sinus and lobe, yet the patient experienced no significant neurological deficits. Mini-craniotomy revealed a dural deficit without active bleeding. The favorable outcome is attributed to anatomical factors and the chopstick's limited penetrative ability. Successful recovery was achieved through minimal debridement and appropriate antibiotic therapy. This case highlights both the dangers of common objects and the importance of precise preoperative imaging and conservative surgical approaches in traumatic brain injuries.

Post-concussion Syndrome (PCS) describes persistent nonspecific neurological, cognitive and emotional symptoms following concussion. A young male presented to a sports concussion clinic with persistent symptoms post-injury. Neurocognitive testing found unexpected severe memory impairment. Blood tests for pituitary function returned low cortisol levels secondary to adrenal insufficiency (AI), which was immediately treated. Post-treatment and improvement of cortisol levels, repeat neuropsychology testing demonstrated reliable improvement in memory and processing speed test scores, commensurate with premorbid expectations. This case highlights the importance of a broad diagnostic approach to formulating unexpected persistent PCS symptoms, screening for AI in PCS cases, and completing neurocognitive testing.

Developmental Topographical Disorientation (DTD) refers to impaired ability to create and consult mental maps in the absence of neurological abnormalities. We present the case study of I.S. to explore diagnostic opportunities for DTD. I.S. showed a very specific impairment in the ability to visualize spatial environments. Impaired performance was found for map use, map recognition and spatial working memory. The interview and observations showed I.S.'s quality of life and life choices have been severely affected by her navigation complaints, which have most likely been misdiagnosed repeatedly. We highlight the importance of awareness of DTD in clinicians and provide clinical recommendations.

We report the case of a Japanese-speaking patient with semantic dementia who showed lower kanji visual performance than auditory performance in a lexical decision task (LDT), but better visual performance in a reading comprehension task (RCT). In the RCT, the patient presumed meanings from single-character kanji (e.g., "rescue" /kyuʀzyo/ → ける "help" /tasukeru/) or orthographic neighbors (e.g., "rest" /kyuʀsoku/ → "rest" /kyuʀkeʀ/). In the LDT, he misidentified non-words as real words by relying on semantic associations of individual kanji characters. The logographic characteristics of kanji may have facilitated RCT while complicating LDT performance.

Alzheimer's disease (AD) symptomatology, while classically studied through the lens of amyloid-β and tau burden, is likely also influenced by multiple-interacting co-pathologies like vascular disease and dysmetabolism. These co-pathologies, especially vascular disease, occur disparately in the Chinese-American population and are often treatable via therapeutics and lifestyle modifications. Given this, we explored whether plasma biomarkers, including an array of vascular-related proteins, associate with cognition in a cohort of 34 Chinese Americans clinically diagnosed as cognitively normal, with mild cognitive impairment, or with AD. We found that a composite score of plasma angiogenesis biomarkers (MMP-1, bFGF, VEGF, and VEGF-C) were positively associated with total Mini Mental State Examination scores (p = 0.045) as well as memory performance (p = 0.006), and that this relationship was most pronounced in AD (biomarker composite score within AD vs MMSE & memory, both p < 0.001). To explore whether these findings were specific to the Chinese-American population, we repeated the above analyses in 73 demographically matched non-Hispanic White American participants and found no significant associations between angiogenesis biomarkers and MMSE or memory, highlighting the potential relevance of vascular dysregulation in Chinese Americans at risk for AD.

Catatonia may manifest as an independent entity or as a feature of a neuropsychiatric or medical illness. While electroconvulsive therapy (ECT) is the gold standard treatment for catatonia, it is typically administered if the patient's symptoms fail to respond to benzodiazepines. We describe the case of a 22-year-old male with Budd Chiari induced cirrhosis and no prior psychiatric history, who presented with symptoms of psychosis and hepatic encephalopathy, was treated in the ICU for multi-factorial delirium, developed symptoms of catatonia that failed to respond to lorazepam, ultimately requiring ECT with a favorable response. This report hopes to add to the literature by discussing potential etiologies of catatonia and by providing an illustrative example of the treatment of catatonia and its considerations in patients with hepatic impairment.

We report the case of DT, a man in his fifties who suffered a large right fronto-parietal hemorrhage, resulting in a dense left weakness and a persistent anosognosia for the resultant hemiplegia. DT engaged in several video-feedback sessions. Video feedback therapy has been successful in previously reported cases of anosognosia, resulting in immediate and lasting resolution. In the current case, similarly dramatic effects were observed, but with a subsequent recurrence of the anosognosic ideation. The present case sheds light on the interplay of neurologic and psychological mechanisms involved in anosognosia and on some of the pragmatic emotional considerations of engaging in this form of rehabilitative therapy.