Neurocase最新文献

Comorbid obsessive-compulsive disorder (OCD) is common among patients with schizophrenia. The role of electroconvulsive therapy (ECT) in the treatment of OCD in schizophrenia is unclear. Herein, we present a 45-year-old man who was diagnosed with schizophrenia along with OCD and received ECT due to relapse of psychosis owing to refractive schizophrenia. Together with psychotic symptoms, obvious symptoms of OCD were observed prior to treatment, including obsessive thoughts, difficulty in starting activities, and repetitive and ritualistic behavior. After 12 sessions of ECT, symptoms of schizophrenia and OCD both improved significantly (Positive and Negative Syndrome Scale [PANSS] score decreased from 95 points to 58 points, and Yale - Brown Obsessive-Compulsive Scale [Y-BOCS] score decreased from 29 points to 11 points). Mild aggravation of OCD symptoms was noted 3 months after ECT treatment (Y-BOCS score increased from 11 points to 17 points) without obvious relapse of psychotic symptoms (PANSS score changed from 58 points to 62 points). In conclusion, ECT could be considered as an alternative therapy for patients with schizophrenia and OCD with limited response to pharmacological treatment.

Olfactory impairment in military populations is highly prevalent and often attributed to the long-term effects of mild traumatic brain injury (mTBI) and chronic psychiatric disorders. The main goal of this investigation was to examine olfactory function in a cohort of combat veterans using a quantitative smell test.Participants underwent a neurological examination, completed performance validity testing (PVT), provided deployment history, and their medical records were reviewed.Participants were 38 veterans with a deployment-related mTBI who passed the PVT and did not have ongoing substance misuse issues. Olfactory examination revealed normosmia in 20 participants and various degrees of deficit in 18. The groups did not differ in demographics, post-injury interval, or current clinical (non-psychiatric) conditions. Participants with hyposmia frequently reported being exposed to a higher number of blasts and being positioned closer to the nearest primary blast, and more often endorsed a period of loss of consciousness after the most serious mTBI. In addition, they more often reported tympanic membrane perforation, extracranial injuries, and histories of both blast and blunt force mTBI. Comorbid diagnoses of posttraumatic stress disorder, depression, chronic headaches, and pain were more common among them as well.Several blast exposure and injury-related characteristics increase the likelihood of long-term olfactory impartments, comorbid psychiatric conditions, and chronic pain among veterans with history of deployment-related mTBI. Notably, none of the participants with hyposmia had a clinical diagnosis of olfactory dysfunction or were receiving service-connected disability for loss of sense of smell at the time of their assessment.

Developmental and Epileptic Encephalopathies (DEEs) are a group of early-onset syndromic disorders characterized by varying degree of intellectual disability, autism spectrum, seizures, and developmental delay. Herein, we have clinically and genetically dissected three siblings from Turkey with DEE born to first cousin unaffected parents. We identified a homozygous pathogenic variant in ELP2 (ENST00000358232.11:c.1385G>A; p.(Arg462Gln)). Our results, together with in depth literature review, underlie the importance of codon encoding the arginine at position 462 as a hotspot for ELP2 related neurological phenotypes.

A 66-year-old left-handed male was admitted to our acute inpatient rehabilitation (AIR) unit following a resection of the right occipito-parietal glioblastoma. He presented with symptoms of horizontal oculomotor apraxia, contralateral optic ataxia and left homonymous hemianopsia. We diagnosed this patient with partial Bálint's syndrome (BS)- oculomotor apraxia, optic ataxia but not simultanagnosia. BS is typically caused by bilateral posterior parietal lesions, but we here describe a unique case due toresection of a right intracranial tumor. A short AIR stay allowed our patient to learn how to compensate for visuomotor and visuospatial deficits, and improved his quality of life significantly.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder caused by 27-hydroxylase deficiency. We report the clinical characteristics of six Korean CTX patients. The median age of onset was 22.5 years, the median age at diagnosis was 42 years, and the diagnostic delay was 18.1 years. The most common clinical symptoms were tendon xanthoma and spastic paraplegia. Four of five patients exhibited latent central conduction dysfunction. All patients carried the same mutation in CYP27A1 (c.1214 G>A [p.R405Q]). CTX is a treatable neurodegenerative disorder; however, our results revealed that patients with CTX in Korea might receive the diagnosis after a prolonged delay.    .

Numerous studies have analyzed the state of brain activation about anxiety disorders under emotional stimuli. However, there is no meta-analysis to assess the commonality and specificity activation concerning different subtypes of anxiety. Here, we used ALE to assess this. 29 studies revealed increased bilateral amygdala, anterior cingulate gyrus, parahippocampal gyrus activation in anxiety disorders during emotional stimuli. Moreover, we observed decreased activations in the posterior cingulate, lingual gyrus, and precuneus. In sub-analysis, although different anxiety showed dissimilar activations, the principal activations were observed in limbic lobe, which might indicate the limbic circuit was the main neural reflection of anxiety symptoms.

Diagnostic criteria for dyslexia describe specific reading difficulties, and single-deficit models, including the phonological deficit theory, have prevailed. Children seeking diagnosis, however, do not always show phonological deficits, and may present with strengths and challenges beyond reading. Through extensive neurological, neuropsychological, and academic evaluation, we describe four children with visuospatial, socio-emotional, and attention impairments and spared phonology, alongside long-standing reading difficulties. Diffusion tensor imaging revealed white matter alterations in inferior longitudinal, uncinate, and superior longitudinal fasciculi versus neurotypical children. Findings emphasize that difficulties may extend beyond reading in dyslexia and underscore the value of deep phenotyping in learning disabilities.

While there is strong evidence from lesion and functional imaging studies implicating the left anterior temporal pole (LTP) in naming unique entities, less is known about white matter tracts in category-specific naming. We present evidence that implicates the uncinate fasciculus (UF) in proper noun naming. First, we describe two patients with left LTP gliomas who developed category specific worsening in proper noun naming in real time during awake surgery when the UF was surgically involved . We then describe a third case involving targeted electrical stimulation of the UF using stereo-electroencephalography (sEEG) that resulted in category specific naming disturbance for proper nouns..

We report a case of a 69-year-old man with treatment-resistant diabetic chorea presenting psychiatric symptoms. The right chorea lasted for 3 months and was refractory to control of diabetes mellitus or administration of haloperidol and benzodiazepines. Only administration of tiapride was efficacious. Magnetic resonance spectrometry and dopamine transporter-single photon emission computed tomography suggested that sustained ischemia at the striatum may lead to impaired expression of dopamine transporters, thereby resulting in deterioration in the indirect pathway. Tiapride inhibited dopamine D2 receptors, thereby restoring the function of the indirect pathway and resulting in improvement of diabetic chorea.