{"title":"Creatine metabolism in psychosis and catatonia: A case report and review of the literature","authors":"Sophie Scharner , Terrance M Dolan , Eric P Hazen","doi":"10.1016/j.psycr.2025.100260","DOIUrl":"10.1016/j.psycr.2025.100260","url":null,"abstract":"<div><h3>Background</h3><div>In the below case report, we describe the development of psychotic and catatonic symptoms in an individual with Arginine-Glycine-Amindinotransferase (AGAT) deficiency, requiring creatine supplementation.</div></div><div><h3>Basic Procedures and Main Findings</h3><div>We have conducted a literature review and to our knowledge this is the first documented instance of psychiatric symptoms of this kind developing in an individual with AGAT deficiency.</div></div><div><h3>Principal Conclusions</h3><div>This case provides clinical support for the role of brain creatine metabolism in the development of psychotic and catatonic symptoms.</div></div>","PeriodicalId":74594,"journal":{"name":"Psychiatry research case reports","volume":"4 1","pages":"Article 100260"},"PeriodicalIF":0.0,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143739187","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}
Dan Petrovitch , Jacob Spinks , Hannah B. Yoo , Lindsay Kerr , Joshua Willms , Mary Katherine Jurek , Rachel Wanzor-Box , Andrew K. Littlefield , Ben McCauley
{"title":"Qualitative analysis of a patient's experience of ketamine-assisted psychotherapy for substance use disorder: Empirical synergies with twelve-step programs","authors":"Dan Petrovitch , Jacob Spinks , Hannah B. Yoo , Lindsay Kerr , Joshua Willms , Mary Katherine Jurek , Rachel Wanzor-Box , Andrew K. Littlefield , Ben McCauley","doi":"10.1016/j.psycr.2025.100259","DOIUrl":"10.1016/j.psycr.2025.100259","url":null,"abstract":"<div><div>Ketamine has demonstrated early promise for treating substance use disorder (SUD). Despite the emerging evidence for ketamine-based approaches for SUD, little has been published on the integration of ketamine-assisted psychotherapy (KAP) with existing pharmacologic, psychosocial, and peer-support approaches to treatment and recovery, including 12-step programs. Here, we present the case of a 28-year-old female treated for alcohol and opioid use disorder. We executed an inter-clinic, collaborative treatment plan that involved a psychedelic, ketamine-based regimen in combination with extant psychosocial and 12-step-based treatments for SUD. Qualitative analysis of the patient's lived experience suggested that ketamine played an important role in her self-reported experience of recovery, as she attributed psychological and spiritual changes to ketamine treatments. Specifically, this report highlights the extent to which the patient's ketamine-induced experiences overlapped with the 12 steps—specifically with respect to recognizing the seriousness of her SUD, committing to change, developing spirituality, and repairing interpersonal relationships, among other points of interface that could be useful for clinicians treating 12-step-involved SUD patients with ketamine.</div></div><div><h3>Clinical impact statement</h3><div>This article analyzed the correspondence between a patient's lived experience of a ketamine-based treatment regimen for addiction and the 12 steps. It suggests notable points of overlap between her ketamine experiences and the 12 steps, which could be useful to clinicians treating 12-step involved patients with ketamine.</div></div>","PeriodicalId":74594,"journal":{"name":"Psychiatry research case reports","volume":"4 1","pages":"Article 100259"},"PeriodicalIF":0.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143734861","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}
Beatriz Pozuelo Moyano , Kevin Swierkosz-Lenart , Jean-Pierre Schuster , Nicole Rey Piedra Garcia , Olivier Rouaud , Pierre Vandel , Armin von Gunten
{"title":"Electroconvulsive therapy for neuropsychiatric symptoms in a patient with posterior cortical atrophy associated with Alzheimer's disease and a history of depression: A case report and review of the literature","authors":"Beatriz Pozuelo Moyano , Kevin Swierkosz-Lenart , Jean-Pierre Schuster , Nicole Rey Piedra Garcia , Olivier Rouaud , Pierre Vandel , Armin von Gunten","doi":"10.1016/j.psycr.2025.100256","DOIUrl":"10.1016/j.psycr.2025.100256","url":null,"abstract":"<div><div>Posterior cortical atrophy (PCA) is a common type of early-onset Alzheimer's disease (AD). The most common neuropsychiatric symptoms (NPS) in PCA are depression, anxiety, apathy, and irritability. Our patient had a history of depression and was diagnosed with PCA at the age of 58 years. Three years after the diagnosis, the patient's cognitive functions rapidly declined, and she was referred to our psychogeriatric service due to significant agitation and ongoing extrapyramidal side effects.</div><div>During the hospitalization, the old-age psychiatrist observed depressive symptoms and severe behavioral disturbances (especially aggressiveness and irritability) that were resistant to pharmacological treatment. The old-age psychiatrist initiated electroconvulsive therapy (ECT) treatment, which resulted in a reduction of both NPS and the prescription of psychotropic drugs. ECT was effective and safe in the treatment of depression and other NPS in this case of PCA. However, further research is needed to determine the most effective stimulation parameters and the efficacy of ECT stratified according to the different etiopathologies of dementia.</div></div>","PeriodicalId":74594,"journal":{"name":"Psychiatry research case reports","volume":"4 1","pages":"Article 100256"},"PeriodicalIF":0.0,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143686356","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":"Clozapine-related obsessive compulsive symptoms in an adolescent with bipolar disorder","authors":"İrem Cihanyurdu Erdem , Ayşe Burcu Erdoğdu Yıldırım , Neşe Perdahlı Fiş","doi":"10.1016/j.psycr.2025.100258","DOIUrl":"10.1016/j.psycr.2025.100258","url":null,"abstract":"<div><div>We presented a case in which clozapine-related obsessive compulsive (OC) symptoms emerged in an adolescent patient with treatment-resistant bipolar disorder with psychotic features. The initial subthreshold OC symptoms accompanying the manic and psychotic features, intensified by the 2nd month of clozapine regimen. Accordingly, a treatment plan targeting clozapine-related OC symptoms was implemented. OC symptoms significantly improved by the inclusion of cognitive and behavioral treatment techniques into the treatment regimen.</div></div>","PeriodicalId":74594,"journal":{"name":"Psychiatry research case reports","volume":"4 1","pages":"Article 100258"},"PeriodicalIF":0.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143654503","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}
Gisela Simões , Helena Felgueiras , Ana Inês Gomes , Rita Silva , Maria João Malaquias
{"title":"VPS13A disease: Bridging motor dysfunction and psychiatric symptoms – A case report","authors":"Gisela Simões , Helena Felgueiras , Ana Inês Gomes , Rita Silva , 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, 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}
Elias Kraus , Stephanie Suter , Margit Proescholdt , Felix Müller , Matthias E. Liechti , Markus Heim , Undine Lang , Marc Vogel
{"title":"Case report: Well-tolerated MDMA-assisted therapy in a 32-year old female patient with advanced alcohol-induced liver cirrhosis","authors":"Elias Kraus , Stephanie Suter , Margit Proescholdt , Felix Müller , Matthias E. Liechti , Markus Heim , Undine Lang , 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, 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}
Aaron J. Stevens , Martin A. Kennedy , Kit Doudney , Alexa Kidd , Julia J. Rucklidge
{"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 , Martin A. Kennedy , Kit Doudney , Alexa Kidd , 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}
Daniel Núñez , Esdras Raposo de Almeida , Arnout C. Smit , Evelien Snippe , Merel K. Muller , David van den Berg , Yuan-Pang Wang , Wim Veling , Sanne H. Booij , Johanna T.W. Wigman
{"title":"Using daily diary data to examine the period prior to a suicide attempt: An observational single-case study","authors":"Daniel Núñez , Esdras Raposo de Almeida , Arnout C. Smit , Evelien Snippe , Merel K. Muller , David van den Berg , Yuan-Pang Wang , Wim Veling , Sanne H. Booij , 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}