Psychiatry research case reports最新文献

Background

Delirious mania (DM) is a serious and poorly understood neuropsychiatric syndrome with features of mania, delirium, catatonia, and psychosis. Although it was first described in the 1800s, there is no consensus on nosology or diagnostic criteria, exacerbating challenges in detection and treatment. DM is sometimes viewed as a subtype of mania, while others consider it to be a separate entity. There appears to also be a relationship between DM and catatonia, and DM has similarly been responsive to treatment with benzodiazepines and electroconvulsive therapy (ECT). The literature surrounding DM is limited largely to case studies.

Objective

We present two cases of DM observed and treated in a community-based inpatient psychiatric unit to further add to the available literature on this challenging and severe neuropsychiatric syndrome.

Discussion

Diagnosis of DM was complicated by lack of consensus diagnostic criteria; however, both patients displayed symptomatology consistent with the descriptions of DM put forward in the literature. Given the extensive differential diagnosis for DM, consideration was given to a variety of etiologies, including medical, neurological, and toxicological. Clinical severity throughout each patient's hospital course was assessed using Confusion Assessment Method Severity (CAM-S) and Clinical Global Impressions Severity (CGI-S) scales for each day of admission. Signs and symptoms consistent with delirium and catatonia were also displayed by each patient during their hospital course. In each case, the patients were treated with a combination of antipsychotics, mood stabilizers, and benzodiazepines. We posit that this is an effective treatment regimen in cases of DM with catatonia in which ECT is not accessible.

Conclusion

DM is a serious and likely under-recognized clinical phenomenon. A combination of antipsychotics, mood stabilizers, and benzodiazepines may be an effective treatment regimen in DM cases with catatonia where administration of ECT is not possible. Development of a consensus diagnostic criteria is needed to expand research into the management of DM.

Background

Heterozygous germline variants in HRAS can lead to RASopathies, a group of disorders caused by gain-of-function variants in several components and modulators of the Ras-MAPK pathway. Recently, different missense variants, indels and a frameshift variant, have been associated with attenuated or distinctive phenotypes, suggesting a wider clinical spectrum.

Case presentation

We report a pair of twins with shared distinctive features, including mild intellectual disability, anxiety, psychosis, dysmorphism, short stature, early hair loss, vitamin D deficiency, osteopenia and hematuria, harboring a novel de novo nonsense variant in HRAS. Targeted RNA-sequencing demonstrates that this variant affects splicing.

Conclusion

Our report provides evidence that variants affecting transcript processing in HRAS may lead to an attenuated phenotype associated with neuropsychiatric features. Further studies are needed to fully understand the mechanism and phenotypic variability.

Rapid Cyclic Bipolar Disorder (RCBD) is a debilitating condition that manifests as four or more episodes of depression, mania, or hypomania in a span of one year, with depression being the predominant event. RCBD is prevalent among individuals diagnosed with bipolar disorder and is associated with elevated suicide risk, prolonged disease duration, unfavorable clinical outcomes, and cognitive decline. The treatment of RCBD is challenging, owing to the poor response to lithium and other conventional treatments for bipolar disorder and the possibility of exacerbating rapid-cycling oscillations during depressive phases with the use of antidepressant therapies. Esketamine Nasal Spray (ESK-NS) has been approved for the treatment of Treatment-Resistant Depression but its application in the context of RCBD is limited and unknown. This study presents the case of a 56-year-old male diagnosed with RCBD who received ESK-NS treatment during a depressive episode and was followed up for 18 months. During the observation period, the subject exhibited a significant mood stabilization, with only a transient depressive episode observed during a three-month period of cessation of ESK-NS treatment, which promptly resolved upon reinstating ESK-NS therapy. Mild dissociative symptoms were observed during the initial doses of ESK-NS administration, but no other significant adverse events were reported. This case report provides initial evidence for the potential utilization of ESK-NS in the treatment of RCBD, supporting the hypothesis of an additional mood-stabilizing effect.

Introduction

Manic delirium is an ill-defined, but serious diagnosis. It is a complex neuropsychiatric syndrome outlined by acute mania with features of delirium not caused by other illness. Research suggests electroconvulsive therapy (ECT) is the gold standard treatment, however this proves difficult in rural locations.

Methods

We describe the cases of four patients with manic delirium admitted to a rural inpatient psychiatric unit between October 2020 and May 2022.

Results

All four patients experienced symptoms of mania and delirium, complicated by urinary retention and reduced oral intake requiring ECT. Symptoms of delirium resolved faster than mania with full resolution of manic delirium occurring within twelve sessions of ECT.

Conclusion

ECT was the definitive treatment in all cases following poor response to medication. Access to ECT should be a priority for rural health services to improve the care of patients with severe mental illness.

Stiff person syndrome (SPS) is a rare neurological disorder manifesting as profound stiffness and rigidity. It is believed to be caused by autoantibodies against antigens involved in the synthesis and release of Gamma-aminobutyric acid (GABA) – a major inhibitory neurotransmitter of the central nervous system (CNS). Progressive encephalomyelitis with rigidity and myoclonus (PERM), also known as SPS-plus syndrome, has more extensive involvement of the CNS and autonomic nervous system. Diagnosis of SPS has become largely reliant on the detection of antibodies in the serum and CSF. However, existing literature suggests that up to one third of cases of SPS have no known antibody positivity. This case report describes a presentation of presumed antibody negative SPS which was initially misclassified as catatonia. It aims to highlight the need for improved diagnostic criteria and increased recognition of SPS, as many patients with this syndrome live disabled for years before they are diagnosed and treated.

Electroconvulsive Therapy (ECT) is a highly efficacious treatment for severe and often refractory affective and psychotic illnesses. Case reports also describe effective and durable responses in patients with neurologic disorders complicated by psychiatric syndromes. Recommendations on ECT technique include avoiding electrical stimulation over areas of known skull or brain abnormalities. We present a patient with a perinatal, large right middle cerebral artery (MCA) infarct affecting the entirety of the MCA distribution who safely underwent a full series of ECT using an alternative placement. ECT was well tolerated with rapid resolution of symptoms. With subsequent maintenance ECT, response was durable at eighteen months.

Behavioral and psychological syndromes such as depression and psychosis often occur along with cognitive (esp. executive) deficits in vascular cognitive disorder (VCD) in the elderly. We present the case of an 85-year-old woman with deficits in executive functions as well as a persistent and clearly circumscribed paranoid hallucinatory syndrome (most probably due to VCD) which could not be adequately treated with antipsychotic medication. The patient also suffered from severe depression (independent of psychotic symptoms). Both psychosis and depression were successfully managed in a home treatment based on Flexible Assertive Community Treatment (FACT). Interestingly, a thematic association between the delusional contents and early childhood traumata could be reconstructed, and late-onset trauma-related symptoms could be successfully treated with cognitive-behavioral therapy (CBT) as well. In sum, behavioral management of psychotic syndromes is possible in the absence of adequate pharmacological treatment options, and multiprofessional and person-centered home treatment may be successful in the elderly, even in severe and complex disorders.

Introduction

Pseudocyesis is defined by the false and fixed belief of being pregnant with associated symptoms of pregnancy. This diagnosis is contrasted with delusion of pregnancy, which differs by lack of physical symptoms. Cases of pseudocyesis in high-income countries are rare and are typically associated with low socioeconomic status, history of infertility, and psychosocial stress.

Case report

A 35-year-old active-duty female Service member with three previous deployments and no history of psychiatric disorders presented for prenatal care of her reported 35-week gestation. She reported conception after return from deployment and validated pregnancy status with symptoms of increased breast and abdominal size as well as frequent nausea and vomiting. The patient also endorsed fetal movement. She endorsed regular monthly menses but noted that they had gotten lighter since she conceived this pregnancy. Obstetric history was notable for previous termination. Her social history was complicated by childhood sexual trauma and spousal emotional abuse. Physical exam and ultrasound showed a healthy weight woman with a non-distended abdomen and nongravid uterus. Qualitative and quantitative b-HCG laboratory findings were negative, and all other laboratory findings including urine drug screen were within normal limits. Psychiatric assessment and mental status exam were unremarkable. After diagnosis of pseudocyesis, indicated treatment involved supportive therapy.

Discussion

This case illustrates a rare incidence of pseudocyesis in a high-income setting. Pathophysiologic etiologies of pseudocyesis suggest neuroendocrine pathway dysregulation associated with underlying mood disorders and psychosocial stressors. Recognition and discernment of pseudocyesis is critical for appropriate intervention and prevention of recurrent episodes.

Background

Wernicke-Korsakoff syndrome (WKS) is a neuropsychiatric condition caused by thiamine deficiency, often associated with chronic alcohol use. We report a case of probable Korsakoff syndrome 10 years after bariatric weight loss surgery in a patient with alcohol use disorder.

Case presentation

A 53-year-old male with a history of alcohol use disorder and Roux-en-Y gastric bypass surgery presented with severe memory impairment, confabulation, nystagmus, and ataxia. He had discontinued his vitamin supplements and increased his alcohol consumption after the surgery. MRI of the brain showed significant atrophy of the mammillary bodies and mild to moderate cerebral volume loss. He was diagnosed with probable Korsakoff syndrome and treated with parenteral and intramuscular thiamine, with minor improvement.

Discussion

This case illustrates the risk of developing WKS following bariatric surgery, especially in patients with alcohol use disorder. Thiamine deficiency can result from malabsorption, malnutrition, or excessive vomiting after the surgery. Alcohol use can exacerbate the deficiency by impairing thiamine absorption and utilization. The diagnosis of WKS is often delayed or missed due to its variable presentation and low clinical suspicion.

Conclusions

WKS is a potentially preventable and treatable condition that can have devastating consequences if left untreated. Patients undergoing bariatric surgery should be screened for alcohol use disorder and counseled on the importance of adhering to vitamin supplementation and avoiding alcohol. Clinicians should be aware of the possibility of WKS in patients with bariatric surgery and alcohol use disorder who present with cognitive or neurological symptoms. Early diagnosis and treatment with thiamine can improve outcomes and prevent irreversible brain damage.