Psychiatry research case reports最新文献

{"title":"VPS13A disease: Bridging motor dysfunction and psychiatric symptoms – A case report","authors":"Gisela Simões ,&nbsp;Helena Felgueiras ,&nbsp;Ana Inês Gomes ,&nbsp;Rita Silva ,&nbsp;Maria João Malaquias","doi":"10.1016/j.psycr.2025.100257","DOIUrl":"10.1016/j.psycr.2025.100257","url":null,"abstract":"<div><div>Neuroacanthocytosis encompasses a group of disorders with basal ganglia pathology leading to characteristic movement disorders and a high prevalence of psychiatric manifestations. VPS13A disease (VPS13A-D), formerly known as Chorea-acanthocytosis (ChAc), is a rare autosomal recessive disorder caused by pathogenic variants in the <em>vacuolar protein sorting 13 homolog A</em> (VPS13A) gene that leads to chorein loss and affects the basal ganglia, especially the caudate nucleus.</div><div>The available literature reveals a gap in the exploration of the coexistence of neuropsychiatric symptoms, with only a few clinical reports described in psychiatric literature. To improve the understanding of this particular genetic disease, this article reports a clinical case of VPS13A-D and discusses its comorbid neuropsychiatric manifestations by analyzing the presentation, laboratory and imaging findings, and by briefly addressing the distinct neurobiology and neuropathology of this disorder concerning psychiatric manifestations, according to the relevant literature.</div><div>We present a 35-year-old male diagnosed with VPS13A-D with an involuntary movement presentation and neuropsychiatric symptoms, including orobuccal self-mutilation, anxiety and obsessive-compulsive traits. The patient received treatment with tetrabenazine (for better control of chorea) and fluvoxamine (to address psychiatric symptoms), showing symptomatic improvement during outpatient follow-up. The discussion delves into the neurobiological framework of VPS13A-D, emphasizing the role of the basal ganglia in both motor and neuropsychiatric manifestations. Psychopathological aspects such as dysexecutive syndrome and obsessive‒compulsive symptoms are explored, highlighting the impact of frontal-subcortical circuits in these presentations.</div><div>This case underscores the complexity of neuropsychiatric symptoms associated with VPS13A-D and highlights the challenges in distinguishing between movement anomalies and psychopathology, accentuating the need for a comprehensive approach through multidisciplinary collaboration for improved patient care and outcomes.</div></div>","PeriodicalId":74594,"journal":{"name":"Psychiatry research case reports","volume":"4 1","pages":"Article 100257"},"PeriodicalIF":0.0,"publicationDate":"2025-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143687242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early psychiatric symptoms as an early indicator of amyotrophic lateral sclerosis: A case report","authors":"Jeffrey Hauck,&nbsp;Niraj Mehta","doi":"10.1016/j.psycr.2025.100255","DOIUrl":"10.1016/j.psycr.2025.100255","url":null,"abstract":"<div><div>Amyotrophic Lateral Sclerosis (ALS) is a rare neurodegenerative disorder primarily characterized by the progressive loss of motor neurons, leading to muscle weakness and atrophy. Recent studies have highlighted the association between ALS and various neuropsychiatric comorbidities, including depression, schizophrenia, frontotemporal dementia, and Parkinson dementia. This case report presents a 63-year-old Hispanic male with a complex neuropsychiatric history, including schizoaffective disorder. The patient presented to the hospital following a fall from his mobility scooter, leading to the discovery of characteristic ALS symptoms during his inpatient hospital stay. The patient exhibited pseudobulbar affect, dysarthria, tongue fasciculations, and muscle atrophy, raising suspicion of ALS. A thorough review of his medical history revealed a pattern of neuropsychiatric symptoms that likely preceded his ALS diagnosis. Subsequent outpatient electromyography confirmed ALS, leading clinicians to believe his diagnosis of ALS was initially missed. This case report highlights the importance of a thorough physical examination and history in all patients regardless of presentation, and that neuropsychiatric symptoms can manifest before and after a diagnosis of ALS.</div></div>","PeriodicalId":74594,"journal":{"name":"Psychiatry research case reports","volume":"4 1","pages":"Article 100255"},"PeriodicalIF":0.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143580497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case report: Well-tolerated MDMA-assisted therapy in a 32-year old female patient with advanced alcohol-induced liver cirrhosis","authors":"Elias Kraus ,&nbsp;Stephanie Suter ,&nbsp;Margit Proescholdt ,&nbsp;Felix Müller ,&nbsp;Matthias E. Liechti ,&nbsp;Markus Heim ,&nbsp;Undine Lang ,&nbsp;Marc Vogel","doi":"10.1016/j.psycr.2025.100252","DOIUrl":"10.1016/j.psycr.2025.100252","url":null,"abstract":"<div><h3>Background</h3><div>Several studies have examined 3,4-Methylenedioxymethamphetamine (MDMA) as a therapeutic adjunct in the treatment of post-traumatic stress disorders (PTSD). Alcohol use disorder (AUD) is common in patients with PTSD and can lead to alcohol-induced liver cirrhosis. There is a concern that MDMA, which is associated with liver toxicity in some cases, may not be tolerated by PTSD-patients with pre-existing, alcohol-induced liver cirrhosis. There is currently no data available to asses this risk.</div></div><div><h3>Case presentation</h3><div>We present the case of a 32-year old female patient with post-traumatic stress disorder and advanced alcohol-induced liver cirrhosis who received MDMA-assisted therapy. MDMA was administered twice (50 mg, 100 mg) over the course of two weeks. Apart from one episode of vomiting and the subjective sensation of numb and swollen fingers (without clinical findings) under the influence of MDMA, there were no adverse effects. Laboratory values did not show any signs of acute MDMA-induced liver injury.</div></div><div><h3>Conclusions</h3><div>There were no signs of acute MDMA-induced liver injury in our patient, despite advanced, pre-existing liver cirrhosis due to alcohol use. This finding is on a case level and cannot be generalized, but is encouraging for future research in patients with liver disorders. Further research is necessary to confirm the safety of MDMA-assisted therapy in patients with pre-existing, alcohol-induced liver cirrhosis.</div></div>","PeriodicalId":74594,"journal":{"name":"Psychiatry research case reports","volume":"4 1","pages":"Article 100252"},"PeriodicalIF":0.0,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143552471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early-onset Kleine-Levin syndrome in adolescent: A case report and review of literature","authors":"Yuejiao Ma,&nbsp;Jianping Lu","doi":"10.1016/j.psycr.2025.100253","DOIUrl":"10.1016/j.psycr.2025.100253","url":null,"abstract":"<div><div>Kleine-Levin syndrome (KLS) is an uncommon recurrent-remitting sleep disorder characterized by recurrent hypersomnia, compulsive eating, hypersexuality, and behavioral/psychiatric disturbances. Patients typically experience recurrent episodes, with normal cognitive function, behavior, and mood between episodes. Early-onset KLS cases in adolescents often involve frequent episodes alongside mood and behavioral abnormalities, leading to potential misdiagnosis. Thus, we provide a comprehensive overview of the patient's medical history, investigation, differential diagnoses, and treatment for a male adolescent with KLS. Additionally, we include a literature review to contribute to future research on KLS cases.</div></div>","PeriodicalId":74594,"journal":{"name":"Psychiatry research case reports","volume":"4 1","pages":"Article 100253"},"PeriodicalIF":0.0,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143594045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Potential link between copy number variation and abnormal genome wide DNA methylation profile in an individual with severe ADHD and a strong response to micronutrient treatment","authors":"Aaron J. Stevens ,&nbsp;Martin A. Kennedy ,&nbsp;Kit Doudney ,&nbsp;Alexa Kidd ,&nbsp;Julia J. Rucklidge","doi":"10.1016/j.psycr.2025.100254","DOIUrl":"10.1016/j.psycr.2025.100254","url":null,"abstract":"<div><div>Identifying and understanding the genetic contributors to mental health conditions remains a challenge. This is partially due to the complex, polygenic nature of these conditions and the range of underlying genetic variants, including copy number variants (CNV), that contribute to risk. Here we report an individual with severe ADHD who displayed an unusual blood methylome profile, and a strongly positive response during a treatment trial of micronutrients for this condition. The unusual methylome profile prompted a search for structural variants in the genome of this individual, leading to the discovery of two large, rare CNVs, which may help to account for the clinical and epigenetic aspects observed in this case. These CNVs impacted several genes, including <em>RNF4</em> and <em>EHMT1,</em> both of which encode enzymes involved in DNA methylation, and <em>CACNA1B</em>, which is implicated in neuropsychiatric phenotypes. These CNVs are classified as variants of unknown significance and are likely benign in the clinical setting. Although there is no strong clinical evidence to suggest reclassification of these CNVs, gene regions adjacent to the CNV have been implicated in neuropsychiatric conditions. It seems reasonable to suggest that these rare CNVs may drive the observed perturbation in this individual's methylome profile, and may partially contribute to their ADHD phenotype.</div></div>","PeriodicalId":74594,"journal":{"name":"Psychiatry research case reports","volume":"4 1","pages":"Article 100254"},"PeriodicalIF":0.0,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143611301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Using daily diary data to examine the period prior to a suicide attempt: An observational single-case study","authors":"Daniel Núñez ,&nbsp;Esdras Raposo de Almeida ,&nbsp;Arnout C. Smit ,&nbsp;Evelien Snippe ,&nbsp;Merel K. Muller ,&nbsp;David van den Berg ,&nbsp;Yuan-Pang Wang ,&nbsp;Wim Veling ,&nbsp;Sanne H. Booij ,&nbsp;Johanna T.W. Wigman","doi":"10.1016/j.psycr.2025.100251","DOIUrl":"10.1016/j.psycr.2025.100251","url":null,"abstract":"<div><h3>Background</h3><div>Prevention of suicide is an important public health issue. Applying Exponential Weighted Moving Average (EWMA) control charts to time-intensive diary data could improve our understanding of the processes leading up to a suicide attempt (SA). We explored daily reports of multiple psychopathological domains, and particularly changes therein, during a period directly preceding a SA.</div></div><div><h3>Methods</h3><div>We applied an observational single-case study design on a diary data from one participant (female, age between 20 and 30 years) who attempted suicide (and survived) during participation in another study. This study included 90 daily reports of depression and anxiety symptoms, psychotic experiences, thought disturbances and a proxy for passive suicide ideation (feeling life is worthwhile). We used EWMA control charts to explore whether structural changes in these psychopathological domains preceded the upcoming SA. We first investigated the overall domains and then zoomed in on individual items.</div></div><div><h3>Results</h3><div>We detected increases in depression and anxiety symptoms, psychotic experiences, and passive suicide ideation in a time window of 6 days directly preceding the SA. Although no changes in the overall dimension of thought disturbances preceded the SA, two specific items, impulsive thoughts and persistent thoughts, did increase.</div></div><div><h3>Conclusion</h3><div>We found changes in daily reports of several (sub)dimensions of psychopathology prior to the SA. Our findings show how applying EWMA charts to diary reports may be helpful to detect signs of an upcoming SA. Improving our ability to timely signal risk for SA may inform strategies aimed at its prevention.</div></div>","PeriodicalId":74594,"journal":{"name":"Psychiatry research case reports","volume":"4 1","pages":"Article 100251"},"PeriodicalIF":0.0,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143421027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of combined theta burst stimulation (TBS) and intranasal esketamine in an ECT-resistant depressive patient: A case report","authors":"Álvaro Moleón-Ruiz ,&nbsp;Paloma Álvarez de Toledo ,&nbsp;Inmaculada Pérez ,&nbsp;Javier Narbona ,&nbsp;Luis Gutiérrez-Rojas ,&nbsp;Manuela Martín-Bejarano","doi":"10.1016/j.psycr.2025.100250","DOIUrl":"10.1016/j.psycr.2025.100250","url":null,"abstract":"<div><div>Treatment-resistant depression (TRD) presents significant clinical challenges, often requiring innovative approaches beyond conventional pharmacotherapy and psychotherapy. This case report explores the efficacy of combined repetitive Transcranial Magnetic Stimulation (rTMS) and intranasal esketamine (IN-ESK) in a patient with TRD.</div><div>A female in her 60 s with a prolonged history of recurrent endogenous-type depressive disorder presented with severe depressive symptoms, including suicidal ideation, despite numerous pharmacotherapies, psychotherapies, and 17 sessions of ECT. The patient underwent a treatment regimen combining rTMS and IN-ESK. rTMS involved continuous theta burst stimulation (cTBS) to the right dorsolateral prefrontal cortex (DLPFC) and intermittent theta burst stimulation (iTBS) to the left DLPFC. IN-ESK was administered at 56 mg for the first two sessions and 84 mg for subsequent sessions over four weeks. The combined treatment resulted in a substantial reduction in depressive and anxiety symptoms. Pre-treatment scores on the Patient Health Questionnaire-9 (PHQ-9) and Hamilton Depression Rating Scale (HDRS) indicated severe depression (PHQ-9 score of 24) and moderate depression (HDRS score of 19). Post-treatment assessments showed significant improvement, with PHQ-9 scores decreasing to 7 (mild depression) and HDRS scores dropping to 5 (remission). Suicidal ideation and anxiety levels also showed marked reduction, with the Hamilton Anxiety Scale (HAS) score decreasing from 20 to 10. The combination of rTMS and IN-ESK demonstrated significant therapeutic benefits in this ECT-resistant depressive patient. This case highlights the potential of this combined modality as a promising treatment for TRD, warranting further research to understand the underlying mechanisms and long-term efficacy.</div></div>","PeriodicalId":74594,"journal":{"name":"Psychiatry research case reports","volume":"4 1","pages":"Article 100250"},"PeriodicalIF":0.0,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143421028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A pharmacotherapeutic and neuroimaging case study of maladaptive daydreaming","authors":"Daniel Mamah,&nbsp;ShingShiun Chen,&nbsp;Ayleen Gomez-Lopez,&nbsp;Samantha Alexander","doi":"10.1016/j.psycr.2025.100249","DOIUrl":"10.1016/j.psycr.2025.100249","url":null,"abstract":"<div><h3>Background</h3><div>Maladaptive daydreaming (MD) is an underreported mental health condition involving prolonged, vivid fantasizing, associated with significant functional impairment or disability. The underlying neurobiology of MD is unknown, and there have been no prior neuroimaging studies in affected individuals.</div></div><div><h3>Case presentation</h3><div>A twenty-year-old woman with a history of depression and obsessive-compulsive disorder reported experiencing intense and highly distracting daydreams, exacerbated by stress and resulting in an inability to complete her studies. We describe her clinical presentation, treatment and symptom response over 120 weeks. Depression was largely treatment-resistant with antidepressants, and improvement with lamotrigine (Lamictal) augmentation was limited by poor tolerance. Antipsychotic medications (lurasidone, risperidone (Risperdal) and aripiprazole) resulted in a rapid reduction or cessation of daydreaming, and dopaminergic medications (lisdexamfetamine and bupropion) resulted in substantially increased time spent daydreaming. The patient underwent Magnetic Resonance Imaging (MRI) using a 3 Tesla scanner, and the brain's cortical thickness and functional connectivity networks were assessed and compared to a matched population of healthy individuals. We found regions of cortical thinning in the left hemisphere, primarily in the middle temporal cortex. The left default mode and cingulo-opercular networks, and the salience network bilaterally, were enlarged compared to the general population. In contrast, the left frontoparietal network was smaller.</div></div><div><h3>Conclusion</h3><div>A hyperdopaminergic state may be involved in some cases of MD. Altered development of the left brain may underlie the capacity for prolonged, vivid daydreaming. Future studies in larger patient populations are needed to validate findings.</div></div>","PeriodicalId":74594,"journal":{"name":"Psychiatry research case reports","volume":"4 1","pages":"Article 100249"},"PeriodicalIF":0.0,"publicationDate":"2025-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143145672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of first-episode psychosis with catatonic features in an adolescent following THC use","authors":"Lily Porsa DO","doi":"10.1016/j.psycr.2025.100248","DOIUrl":"10.1016/j.psycr.2025.100248","url":null,"abstract":"<div><div>This paper presents a case study of a 14-year-old female admitted with first-episode psychosis and catatonic features following delta-9 tetrahydrocannabinol (THC) use. The rising prevalence of cannabis, especially among adolescents, underscores the need to distinguish between substance-induced and primary psychoses. The discussion explores the challenges in diagnosis, emphasizing predictors such as family history and trauma. Treatment strategies, including abstinence promotion, medical evaluation, and early psychosis intervention, are crucial for effective management. The case highlights the complexities of psychosis management, emphasizing a comprehensive approach for improved outcomes and prevention of future episodes.</div></div>","PeriodicalId":74594,"journal":{"name":"Psychiatry research case reports","volume":"4 1","pages":"Article 100248"},"PeriodicalIF":0.0,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143145671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Excessive emotional reactivity in a case of behavioral variant frontotemporal dementia with amyotrophic lateral sclerosis","authors":"Megan S. Barker ,&nbsp;Neil A. Shneider ,&nbsp;Masood Manoochehri ,&nbsp;Edward D. Huey ,&nbsp;Elizabeth C. Lindenberger","doi":"10.1016/j.psycr.2025.100247","DOIUrl":"10.1016/j.psycr.2025.100247","url":null,"abstract":"<div><div>Although amyotrophic lateral sclerosis (ALS) is defined as a neuromuscular disease, cognitive and/or behavioral symptoms are relatively common, and a portion of ALS patients will meet criteria for behavioral variant frontotemporal dementia (bvFTD). In this report, we describe the case of a man with ALS with bvFTD (ALS-FTD) presenting with excessive emotional reactivity, including severe anger, aggression, and obsessive thoughts. We contrast this case with the decreased emotional reactivity that is usually observed in patients with bvFTD without ALS. We discuss possible explanations including that: 1) the behavioral symptoms of bvFTD and ALS-FTD are the same, but the motor dysfunction influences the clinical manifestations of the behavioral symptoms in ALS-FTD; 2) the emotional and behavioral symptoms of bvFTD and ALS-FTD are the same, but ALS-FTD patients come to clinical attention earlier in the course of their FTD than bvFTD patients without ALS; and 3) the emotional and behavioral symptoms of bvFTD and ALS-FTD could differ.</div></div>","PeriodicalId":74594,"journal":{"name":"Psychiatry research case reports","volume":"4 1","pages":"Article 100247"},"PeriodicalIF":0.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143145673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}