bluuebunny/crossref_metadata_2025_split huggingface dataset:
Adult Onset Ornithine Transcarbamylase Deficiency: A Rare Cause of Psychosis
Authors: Choi Hoi Ying 
Published: August 2024

AimsOrnithine transcarbamylase (OTC) is an enzyme of the urea cycle catalyzing the condensation of carbamyl phosphate and ornithine to form citrulline. OTC deficiency leads to elevated serum ammonia and presents as different neurological or psychiatric symptoms. OTC deficiency is an X-linked inborn error of metabolism and most cases occur in neonatal period with severe presentation. Lesser known is the late-onset form that remains latent from infancy and only presents with intriguing symptoms mimicking psychiatric disease in adulthood.MethodsCase report.ResultsWe describe a case of adult-onset OTC deficiency in a 40-year-old man with borderline intellectual functioning and a psychotic episode following a protein rich meal. The case was first diagnosed as undifferentiated schizophrenia, until the genetic study was carried out.ConclusionAwareness of the adult onset ornithine transcarbamylase deficiency being a rare but possible differential diagnosis in a patient with acute psychiatric symptoms with hyperammonemia. Organic causes such as cerebral, metabolic, toxic causes of psychosis should be actively sought especially when encountering cases of acute psychosis.
Auditory Delusional Misidentification: A Case of Capgras Syndrome During the COVID-19 Pandemic
Authors: Shaw Michael , Durrant Alana , Penfold Leia , Okediran Opeyemi , Tokuma Hideaki 
Published: August 2024

AimsCapgras syndrome is the most common of the delusional misidentification syndromes. It is characterised by the delusional belief that a familiar person has been replaced by an identical imposter. Capgras syndrome is associated with functional conditions, like psychosis, but also with a range of organic conditions such as dementia, brain injury and Parkinson's disease.The COVID-19 pandemic created a unique situation where patients were unable to see their relatives in person, resulting in their only form of contact being via telephone or virtually.MethodsWe present a case of a 70 year old lady Mrs W, who was admitted with first episode psychosis. She developed Capgras syndrome during her admission, based purely in the auditory modality of talking to her husband on the telephone. She was firm in her conviction that he was an imposter, mainly based of ‘a different tone’ and using ‘different words’. Showing a photograph of her husband was met with full and appropriate recognition. Given that a significant minority of elderly patients with a Capgras delusion have an organic aetiology, neuroimaging and extended laboratory investigations, including auto-antibodies for limbic encephalitis, were performed which were unremarkable.With psychotropic medication, the Capgras delusion resolved, and on discharge she recognised her husband when they met again.ResultsThe aetiology of Capgras syndrome remains unclear, although a range of causes have been suggested. Early psychodynamic theories related to conflict between love and hate towards the relative, which could be relevant in functional conditions but may have less significance in organic conditions.Other theories examine Capgras syndrome as a mirror of prosopagnosia, where people have difficulties recognising familiar faces. This would indicate a pathological process affecting visual pathways. However, our case challenges this theory, suggesting that deficits in other sensory modality pathways may also contribute.Although rare, our case is not entirely unique; several cases of Capgras syndrome in people with blindness have been reported. However, our case differs in that our patient was able to recognise photos of her husband despite misidentification based on auditory cues. As Mrs W did not have visual impairment, it is unclear if she would have presented with the more classical visual misidentification in the absence of the unique circumstances of the COVID-19 pandemic.ConclusionCapgras syndrome is classically associated with misidentification based on visual cues, however a growing number of case reports challenge this. Further investigation is required to create theories that encompass other sensory modalities.
Administration of Atropine Eye Drops Sublingually for Clozapine-Induced Sialorrhea in Bipolar Disorder
Authors: Garg Shaurya , Kumar Amit , Afroz Omar , Kathiresan Preethy , Deep Raman 
Published: August 2024

AimsThe aim of this study is to explore the off-label use of atropine, administered sublingually, for the management of clozapine-induced sialorrhea in a patient who showed inadequate response to commonly used agents. The investigation stems from a clinical scenario where traditional approaches failed, prompting an exploration of alternative and cost-effective options to alleviate sialorrhea associated with clozapine therapy in a patient of lower socio-economic status.MethodsMr. A, a 29-year-old with bipolar affective disorder, experienced persistent sialorrhea during clozapine treatment, resistant to trials with trihexyphenidyl and glycopyrrolate. Following a brief discontinuation of clozapine, the patient relapsed into a manic episode, leading to hospitalization. Despite the re-initiation of clozapine, sialorrhea reoccurred. Various doses and combinations of trihexyphenidyl and glycopyrrolate were ineffective, with affordability issues limiting the latter. As sialorrhea persisted, clozapine dose reduction was necessary. Attempts with different antipsychotics were made, and valproate sodium was increased, but sialorrhea remained problematic.Given the patient's unique case and previous medication failures, an off-label use of atropine via a sublingual route was done after obtaining informed consent. Quantitative measurement of sialorrhea was conducted using a sialometry machine. The patient underwent a trial with sublingual atropine drops, and the salivary rate significantly decreased, indicating a potential efficacy in managing clozapine-induced sialorrhea.ResultsThe discussion encompasses the challenges faced in managing clozapine-induced sialorrhea in the presented case. Traditional agents, including glycopyrrolate and trihexyphenidyl, proved ineffective or were hindered by affordability issues. The subsequent reduction of clozapine dose compromised overall treatment efficacy. The introduction of atropine eye drops via sublingual administration emerged as a novel approach, demonstrating a reduction in salivary rate without notable adverse effects except elevated heart rate 2 hours after administration of atropine. The unique pharmacological properties of atropine, despite being an off-label use, provided a potential avenue for addressing persistent sialorrhea.ConclusionIn conclusion, the off-label use of atropine via the sublingual route showed promise in alleviating clozapine-induced sialorrhea in this particular case. Despite demonstrable efficacy in pre and post-sialometry, the clinical challenges and practical considerations associated with atropine's use in this context raise concerns. The case underscores the need for alternative strategies in managing medication-induced side effects, especially when standard interventions fail. Further research is warranted to explore the broader applicability and safety of this approach in a larger cohort.
Ghosts From the Past: A Juvenile Onset Huntington's Disease Case From Bahrain
Authors: Husain Hanan , Bucheeri Shaima , Alsaif Feras 
Published: August 2024

AimsHuntington’s disease (HD) is a rare inherited disease in an autosomal dominant pattern, that is most prevalent among Caucasians.Juvenile onset Huntington disease (JHD) is a rare subtype of the disease, defined by presence of the disease by the age of 20 or younger.We report a case of a 28-year-old woman with JHD and discuss the challenges we faced in her diagnosis and management.MethodsA now 28-year-old Arab woman, presented to the psychiatric hospital when she was an 18-year-old, complaining of restlessness and low mood. She was diagnosed to be having social phobia and panic attacks, and was given escitalopram. About 6 months after her first presentation, the patient's mother showed up reporting that the patient is doing well without the medication and that she is not going to take them anymore. However, the patient started developing anxiety symptoms two years later and started taking the same medication. Moreover, three years after her first presentation, the patient started developing movement symptoms and mentioned that her father passed away by Huntington's disease. The patient was immediately referred to a genetic lab and a Huntington disease diagnosis was given along with tetrabenazine and risperidone. Moreover, the patient attempted suicide multiple times after worsening of symptoms over the years. A brain magnetic resonance imaging of the patient showed bilateral caudate nuclei atrophy with similar changes affecting the putamen as well but to a lesser extent, changes that are associated with Huntington's disease.ResultsJuvenile onset Huntington disease is rare, especially among people who are not of European ancestry. Therefore, clinicians are not likely to suspect the illness at an early stage. Late diagnosis not only can prevent patients from receiving the symptomatic treatments that they need, but it can also lead to misdiagnosis. Early referral to genetic testing is required among patients presenting with symptoms and a positive family history. However, risk of suicide is high among patients of Huntington's disease.ConclusionJuvenile onset Huntington disease is extremely rare. Initial symptoms of the disease could vary and can be misdiagnosed as epilepsy, mood or behavioral disorders, or schizophrenia. Genetic testing is controversial for patients below 18 years old. Having a low suspicion threshold in diagnosing patients with positive family history of HD who are presenting with such symptoms is recommended. There is no cure and treatment is symptomatic.
Social Isolation and Anomalous Proprioceptive Experiences in Schizophrenia: A Case Study
Authors: Kwarkas Vullong , Jaganathan Geetha , Cross Benjamin 
Published: August 2024

AimsIntegral to Bleuler's concept of schizophrenia, anomalous beliefs regarding the self are crucial to maladaptive social functioning. In schizophrenia, a predisposition to unusual bodily experiences, coupled with reduced awareness and increased social isolation, leads to hallucinations and delusions. Proprioceptive hallucinations, a subset of bodily hallucinations, present a challenging diagnosis due to their subjective nature, often resembling genuine bodily perceptions. We present the case of a 42-year-old man with untreated psychotic illness, manifesting perceptual abnormalities in the modality of proprioception.MethodsMr. X was referred to Early Intervention in Psychosis (EIP), believing that all his joints were dislocated despite a normal neurological examination, Magnetic Resonance Imaging (MRI), and blood tests. Pertinently, childhood adversities and a seven-year history of prodromal and schizophrenia symptoms, chronic marijuana usage, potentially triggered by separating from his ex-partner, were present. At assessment, Mr. X recalled a delusional memory from age 5, seemingly heralding the onset of his illness. He displayed thought disorder, poor sleep and lacked insight. Olanzapine titrated to 15mg omni nocte (ON) improved sleep, but insight remained poor.ResultsThis case of rare proprioceptive hallucinations presenting in middle-age underscores the impact of positive schizophrenia symptoms on social impairment, suggesting a link between unusual bodily experiences and social isolation. Proprioception, encompassing joint perceptions, muscle force, and effort, contributes to body image by combining with exteroception. Interactions with others, influenced by our bodily sense, are crucial for adaptive social functioning. The social deafferentation hypothesis posits that loneliness in schizophrenia may heighten susceptibility to bodily aberrations. The psychological formulation and the chronic use of marijuana on Mr. X's psychopathology, although not thoroughly explored, cannot be overstated.ConclusionProprioception, vital for body image and social interactions, contributes to maladaptive functioning. The potent link between positive schizophrenia symptoms and social impairment needs exploring.
A Challenging Case of Generalised Anxiety Disorder and Recurrent Depressive Disorder, Unspecified
Authors: Moss Eileen 
Published: August 2024

AimsThis case presentation is on a 54 year old female patient. Prior to 2023, she had never had an inpatient admission for her mental health. She was referred to her local community mental health team in May 2023 as they were concerned that she was suffering from panic disorder. The GP referral stated that this lady was suffering from anxiety and panic attacks. At the time of the GP referral, she was on maximum doses of escitalopram, propranolol and zolpidem (and she had been on these maximum doses for three years prior to the referral). This lady has significant caring responsibilities (she has a brother who is severely disabled and she lives with him and she is his main carer). She sustained an injury to the tip of her left index finger in April 2023 and this injury seemed to cause an acute deterioration in her mental health.MethodsThis lady had her first inpatient admission in June 2023 and at that time she was treated for the following: mixed anxiety and depressive disorder. She was discharged to the care of her Community Mental Health Team at that time. Post-discharge, her mental state started to deteriorate and she waded into a river and she also made a serious hanging attempt. After this hanging attempt, she sustained multiple rib fractures, a pleural effusion and atelectasis. She also ended up in ICU following this suicide attempt. She was re-admitted to Holywell Hospital in November 2023.ResultsDuring her second inpatient admission, it became clear that this lady is very medication-seeking. She was treated for the following mental health conditions on her second inpatient admission in 2023: Generalised Anxiety Disorder and Recurrent Depressive Disorder, Unspecified. Help was also sought from an Addictions Specialist on the second inpatient admission. This lady was given five ECT sessions on her second inpatient admission but it was felt that this was making her more agitated so it was stopped.ConclusionThis patient is currently still an inpatient and she is hoping to attend a specialist addictions unit when she is discharged from hospital. I will follow her progress with interest. I found this case to be an interesting one as it forced me to consider how to best manage a patient who is very medication-seeking.
Remission of Symptoms of Functional Neurological Disorder (FND) Utilising Novel Interventions: A Case Report
Authors: Rudrappa Roopa , Altman Roni , Rathnaiah Mohanbabu 
Published: August 2024

AimsFND can be considered as an umbrella term that includes range of motor and sensory system dysfunctions with genuine symptoms including paralysis, tremors, sensory disturbance, speech disturbance and seizure. Functional seizures usually termed as Non-Epileptic attack disorder (NEAD) can result in profound persisting disability. Brief bouts of unprovoked and uncontrollable laughter, spontaneous in origin, combined with facial contraction in the form of smile, is termed as ‘gelastic seizures’. Modafinil is a dopamine modulating molecule for which evidence is accumulating towards its cognitive enhancement role in multiple domains. Furthermore, it has been shown to promote hippocampal neurogenesis and synaptic plasticity in pre-clinical studies. We report a case of FND in which pharmacological (Modafinil) and non-pharmacological interventions (Brain retraining) resulted in resolution of symptoms of probable gelastic episodes.MethodsA 50-year-old lady who was referred by consultant neurologist to our Neuropsychiatry pilot service with episodes of uncontrollable laughing, singing, screaming and suffering from staggering and imbalance. Following these episodes, patient described sleeping for hours to days with fatigue. Her husband first noticed low mood 12 years ago during post-natal period. Treatment with fluoxetine reportedly contributed to ‘cyclical highs and mood variations’. One year later, her ‘gelastic episodes’ started and continued to occur every 2 or 3 months and they were brought on by a range of factors including tiredness, menstrual periods and stress. Patient also reported atypical cognitive deficits such as ‘losing vocabulary’ and ‘stuck every couple of seconds’. Furthermore, detailed history confirmed possible traits of attention deficit and hyperactive thinking since her childhood.ResultsFollowing a comprehensive assessment, the role of the brain in the manifestation of her symptoms was discussed and agreed upon. Strategies based on Cognitive Behaviour Therapy principles such as active distraction, brain retraining, engaging in therapeutic activities and expressive writing were discussed and agreed upon. Following detailed risk-benefit analysis, modafinil was initiated at 200 mg dose in the morning. Patient made a remarkable recovery nearly back to her baseline with resolution of her gelastic episodes and thus improvement in her mental state. She continues to be stable in the community.ConclusionThis case highlights the importance of recognising and treating cluster of symptoms which might belong to the impulsive-compulsive spectrum. This further emphasises the role of dopamine-modulating agents such as modafinil along with brain-retraining strategies.
Obsessive-Compulsive Disorder and Suicidality: A Case Control Study
Authors: Yadav Swapnil , Reddi V Senthil Kumar , Sekharan Jaisoorya 
Published: August 2024

AimsThis study aims to explore the characteristics of the individuals who engage in suicidal behaviour.Hypothesis:1)Patients attempting suicide are more likely to have co-existing axis I or axis II disorder when compared with patients with no reported suicidal attempt.2)Various OCD related domain like symptom types, symptom severity, age of onset of OCD, duration of illness and presence of other OCD spectrum disorder has higher chances of attempting suicide.3)Family history of suicidal behaviour increases the risk of suicidality.MethodsRetrospective file review of all patients registered at the OCD clinic, NIMHANS hospital, Bangalore, India between Jan 2008–Dec 2018 was undertaken. Out of 1017, 814 met the eligibility criteria. Individuals with a documented suicide attempt were compared with those without. Chi square test, unpaired t-test and Regression analysis was done to identify predictors of life-time attempt.ResultsLifetime attempt was noted in 19.8% patients (161 out of 814). On comparison, female gender, unemployment, lower socioeconomic status, severe to extreme avoidance, severe to most severe CGIs, presence of depressive disorder, history of engagement in suicidal acts, past NSSI, past suicidal ideation, younger age at onset of OCD, younger age at first OCD consultation and YBOCS at index assessment are significantly associated with higher risk of suicidal attempts. Female gender, BPL status, age at onset of OCD and presence of depressive disorder can significantly predict lifetime suicidal attempts. Out of 814 eligible patients reviewed, 32 patients i.e. 4.79% had made ≥1 suicide attempt after their first contact to the OCD clinic. Risk of re-attempting suicide is highest in the first three years post index visit to the OCD clinic.ConclusionOne in five individuals with OCD attempt suicide with higher risk in female population, greater illness severity (higher baseline YBOCS scores and early age of OCD onset) and presence of comorbid depression. Importantly, risk of repeated attempt is greatest within three years of contact but no factor could determine reattempt risk. Hence, regular screening for suicidality in patients with OCD could be of utmost importance in preventing any future attempts. The findings also highlight the need for future studies that explore the neurobiological underpinnings of suicide vulnerability in OCD.
An Item-Level Systematic Review of the Presentation of Attention Deficit Hyperactivity Disorder (ADHD) in Females
Authors: Hui Lim Annabelle Xiao , Williams Tamara , Horstmann Louise , Thapar Anita , Martin Joanna 
Published: August 2024

AimsSex differences in the prevalence of ADHD are well reported in the literature, with childhood ADHD being diagnosed 7–8 times more frequently in males than females, despite a population sex ratio of 3–4:1. A recent consensus statement argued that ADHD is under-identified and under-diagnosed in the UK, and this is especially concerning with regards to females. This systematic review aims to investigate specific symptoms characterising the manifestation of ADHD in females compared with both males with ADHD and females without ADHD.MethodsA systematic search of eligible studies was conducted using predefined search criteria across six databases (Ovid MEDLINE, Ovid EMBASE, Ovid APA PsycINFO, ProQuest, EBSCO ERIC and EBSCO British Education Index), in line with a registration protocol on PROSPERO. Eligible studies included those with statistical analysis comparing ADHD, impact or co-occurring mental health difficulties at the item level, which compared ADHD symptoms in both sexes, or contrasted females with and without ADHD. Studies that exclusively reported total scores without item-level statistical results were excluded. A total of 5,378 articles were identified in the search and 13 studies met the criteria for inclusion.ResultsOutcomes from 13 studies were analysed thematically. 7 studies looked at ADHD at an item level, while 7 studies explored disparities in impairment or other items. Of the eligible studies, 12 compared males and females with ADHD and 4 compared females with and without ADHD. 7 studies focussed on children with ADHD and 6 on adults. Preliminary results from 3 studies of ADHD symptoms in children indicated sex differences in hyperactive and impulsive symptoms: males were more likely to exhibit symptoms such as fidgeting and difficulty remain seated, while females exhibited higher rates of excessive talking and interrupting. Sex differences in impairment showed mixed results. Females with ADHD endorsed self-reported items related to mind-wandering and parent-reported impairment, including friendship difficulties, more than females without ADHD. Overall, the analysis of the results suggested that most studies do show some sex differences in ADHD and impairment items.ConclusionWhile current studies of individuals diagnosed with ADHD highlight important sex differences, the limited number of direct investigations and predominant focus on total symptoms underscore the need for further research. Item-level analysis of symptoms and their impact is essential in exploring how sex influences the associations between ADHD, risk factors and functional outcomes. Recognising potential sex differences is essential for improving ADHD assessment in females and later life outcomes.