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Cureus Oct 2023Prion diseases are rare neurodegenerative diseases that have a rapid evolution. Creutzfeldt-Jakob disease (CJD) is the most common and its sporadic form the most...
Prion diseases are rare neurodegenerative diseases that have a rapid evolution. Creutzfeldt-Jakob disease (CJD) is the most common and its sporadic form the most frequent. Definitive diagnosis is only obtained through autopsy, and there are currently no available treatments. Here, we present a case of an 84-year-old woman presenting with resting tremor, abnormal gait, frequent falls, apraxia, visual hallucinations, and delirium. There were no signs of relevant metabolic, infectious, or nutritional alterations, and brain computed tomography (CT) scan and magnetic resonance imaging (MRI) had no significant findings. Two months later, the patient was completely immobile with mutism, seizures, and myoclonus. In the presence of a rapidly progressive dementia associated with myoclonus, it was hypothesized that the patient had CJD. The patient's clinical state deteriorated, she died, and autopsy confirmed sporadic CJD. The purpose of this case is to highlight a rare disease that can go undiagnosed because of low awareness and clinical suspicion and the importance of the differential diagnosis of dementia, a common disease at this age.
PubMed: 38021531
DOI: 10.7759/cureus.47177 -
Journal of Neurosurgery. Pediatrics Feb 2024Postoperative cerebellar mutism syndrome (CMS) develops in up to 40% of children with medulloblastoma. The Rotterdam model (RM) has been reported to predict a 66% risk...
OBJECTIVE
Postoperative cerebellar mutism syndrome (CMS) develops in up to 40% of children with medulloblastoma. The Rotterdam model (RM) has been reported to predict a 66% risk of CMS in patients with a score of ≥ 100. The aim of this study was to retrospectively apply the RM to an independent cohort of patients with newly diagnosed medulloblastoma and study the applicability of the RM in predicting postoperative CMS.
METHODS
Participants had to have their first tumor resection at the authors' institution and be enrolled in the SJMB12 protocol (NCT01878617). All participants underwent structured serial neurological evaluations before and then periodically after completing radiation therapy. Imaging was reviewed by the study neurologist who was blinded to CMS status when reviewing the scans and retrospectively applied RM score to each participant.
RESULTS
Forty participants were included (14 females and 26 males). Four (10%) patients had CMS. The median age at tumor resection was 11.7 years (range 3.5-17.8 years). Tumor location was midline in 30 (75%), right lateral in 6 (15%), and left lateral in 4 (10%). The median Evans index was 0.3 (range 0.2-0.4), and 34 (85%) patients had an Evans index ≥ 0.3. Five participants required a ventricular shunt. The median tumor volume was 51.97 cm3 (range 20.13-180.58 cm3). Gross-total resection was achieved in 35 (87.5%) patients, near-total resection in 4 (10%), and subtotal in 1. The median RM score was 90 (range 25-145). Eighteen participants had an RM score of ≥ 100, and of these 16.7% (n = 3) had CMS. Of the 22 patients with an RM score < 100, 1 child developed CMS (4.5%, CI 0.1%-22.8%); 3 of the 18 patients with an RM score ≥ 100 developed CMS (16.7%, CI 3.6%-41.4%). The observed rate of CMS in the cohort of children with an RM score ≥ 100 was significantly lower than the observed rate in the original RM cohort (66.7%, CI 51%-80.0%, p < 0.001). A greater risk of CMS in patients with an RM score ≥ 100 could not be confirmed (p = 0.31).
CONCLUSIONS
At the authors' institution, the incidence of CMS in patients who had an RM ≥ 100 was significantly lower than the RM cohort. These findings raise questions regarding generalizability of RM; however, fewer cases of CMS and a relatively small cohort limit this conclusion.
Topics: Child; Male; Female; Humans; Child, Preschool; Adolescent; Medulloblastoma; Retrospective Studies; Mutism; Cerebellar Diseases; Cerebellar Neoplasms; Postoperative Complications
PubMed: 38000061
DOI: 10.3171/2023.9.PEDS23160 -
Pharmacopsychiatry Jan 2024Electroconvulsive therapy (ECT) is known to be effective in the treatment of catatonia, reaching response rates of about 80 to 100%. It is indicated in cases of...
INTRODUCTION
Electroconvulsive therapy (ECT) is known to be effective in the treatment of catatonia, reaching response rates of about 80 to 100%. It is indicated in cases of treatment resistance to benzodiazepines and in life-threatening conditions such as malignant catatonia. Beneficial effects on specific symptoms or predictors of response are less clear. The objective of this retrospective study is to examine the ECT effect on specific catatonia symptoms in the acute phase of the illness and to identify predictors of response.
METHODS
A retrospective study examined data from 20 patients with catatonia, 18 associated with schizophrenia and 2 with bipolar disorder, who underwent ECT from 2008 to 2021. Ten subjects had more than one ECT-series, resulting in a total of 31 ECT-series. Catatonia symptom severity was assessed with the Bush Francis Catatonia Rating Scale (BFCRS).
RESULTS
ECT yielded excellent response. Nineteen of 20 patients and 30 of 31 ECT-series achieved response. The mean number of ECT sessions to response was 4.2. Response to ECT was more pronounced for motor inhibition symptoms such as stupor and mutism, while echophenomena, dyskinesia, stereotypy and perseveration responded less well. A predictor of late response was the presence of grasp reflex.
DISCUSSION
The present study corroborates the high and rapid effectiveness of ECT in the treatment of catatonia. Focus on single catatonia signs may help to identify those who are most likely to achieve remission quickly, as well as those who might need longer ECT-series.
Topics: Humans; Catatonia; Electroconvulsive Therapy; Retrospective Studies; Schizophrenia; Bipolar Disorder
PubMed: 37995719
DOI: 10.1055/a-2195-1499 -
Journal of Communication Disorders 2024Selective mutism (SM) is an anxiety disorder categorized by a persistent failure to speak in specific situations. In an attempt to facilitate interaction with...
INTRODUCTION
Selective mutism (SM) is an anxiety disorder categorized by a persistent failure to speak in specific situations. In an attempt to facilitate interaction with individuals with SM, other forms of communication (e.g. computer-mediated communication; CMC) are often tried. However, CMC is understudied in individuals with SM, while, especially since the COVID-19 pandemic, the importance of CMC for education and social purposes only increased.
METHODS
In this study, we explored CMC in 79 adolescents with either selective mutism (n = 34), or typical development (n = 45). All participants completed a survey concerning verbal and written CMC in three contexts (friends, family, and school).
RESULTS
Results showed that adolescents with SM used not only verbal but also written CMC less frequently than the comparison group across contexts. While the comparison group preferred Face-to-Face communication over CMC, adolescents with SM were divided, especially in the school context. With family and friends, the majority of the SM group preferred Face-to-Face communication, even though this provoked more feelings of tension than CMC for part of the group.
CONCLUSION
These findings support anecdotal reports that SM affects not only speech but extends to other communicative venues and includes written communication in many situations. This underlines the importance of addressing not just speaking behavior but also writing and CMC in the diagnostic evaluation and treatment plans for adolescents with SM.
Topics: Humans; Adolescent; Mutism; Pandemics; Anxiety Disorders; Communication; Computers
PubMed: 37988827
DOI: 10.1016/j.jcomdis.2023.106389 -
Dementia & Neuropsychologia 2023Locked-in syndrome is a neurological condition characterized by tetraplegia, mutism, preservation of vertical eye movement, superior eyelid movement, and intact...
Locked-in syndrome is a neurological condition characterized by tetraplegia, mutism, preservation of vertical eye movement, superior eyelid movement, and intact consciousness, making it impossible for the patient to communicate properly. We herein describe a case to analyze the practice of developing a method of communication for a patient with locked-in syndrome. Two communication boards were created, adapted to the Portuguese language, as well as a shortcut to inquire about the physical and emotional patient's well-being. We had difficulty with the initial communication board, due to the patient's low education level, so we adapted a new one to the patient's social context, including a shortcut to inquire about physical and emotional well-being. The communication board had a positive impact on treatment development and the patient's life.
PubMed: 37965482
DOI: 10.1590/1980-5764-DN-2023-0041 -
BMC Psychiatry Oct 2023Selective mutism (SM) is a childhood onset anxiety disorder, and the main symptom is not speaking in certain social situations. Knowledge about the duration and...
BACKGROUND
Selective mutism (SM) is a childhood onset anxiety disorder, and the main symptom is not speaking in certain social situations. Knowledge about the duration and long-term outcomes of SM have been lacking and the aim of this systematic literature review was to address this gap in the literature. We investigated how long SM symptoms persisted as well as other psychiatric outcomes associated with SM in later life.
METHODS
The PubMed, PsycInfo, Web of Science, Cochrane Library and Embase databases were initially searched from inception to 11 September 2023. Studies were included if they were published in English and had followed up subjects with clinically diagnosed SM for at least two years. The review followed the Preferred Reporting Items of Systematic Reviews and Meta-analyses guidelines and the protocol was registered with the Open Science Framework. The papers were assessed using the Quality Assessment with Diverse Studies tool.
RESULTS
This review screened 2,432 papers and assessed 18 studies. Seven case series studies were excluded from discussion because of the low number of subjects and the fact that their findings could not be generalized to wider populations. In the end, nine clinical cohorts and two case control studies were reviewed. These provided a total of 292 subjects and the sample sizes ranged from 11-49. The overall quality of the studies was moderate. The review found that 190 of the 243 subjects in the studies that reported recovery rates showed moderate or total improvement from SM during follow up. Other anxiety disorders were the most common psychiatric disorders later in life, although these results should be interpreted with caution. Older age at baseline and parental psychopathology might predict greater impairment, but further studies are needed to confirm these results.
CONCLUSIONS
Most subjects with SM recovered from this disorder during adolescence, but anxiety disorders were common in later life. Early detection and treatment are needed to prevent symptoms from persisting and other psychiatric disorders from developing.
Topics: Adolescent; Child; Humans; Anxiety Disorders; Case-Control Studies; Mutism; Psychopathology; Systematic Reviews as Topic
PubMed: 37875905
DOI: 10.1186/s12888-023-05279-6 -
Pediatric Reports Oct 2023Selective mutism (SM) is a rare childhood anxiety disorder which may be markedly detrimental to a child's academic and social functioning if left untreated....
Selective mutism (SM) is a rare childhood anxiety disorder which may be markedly detrimental to a child's academic and social functioning if left untreated. Cognitive-behavioral treatments for social anxiety disorders have been found to be effective for SM, yet a paucity of published studies have explored manualized treatment approaches carried out by novice clinicians. The purpose of the present study was to examine the adherence, effectiveness, and acceptability of a condensed, 16-session version of Integrated Behavior Therapy for Selective Mutism (IBTSM; Bergman, 2013), the first manualized treatment for SM. A nonconcurrent multiple-baseline single-case design was used across five children diagnosed with SM, exclusively anxious subtype. IBTSM was implemented with excellent adherence (M = 98%) over an average of 19 weeks (range = 16-22 weeks). Visual analyses of weekly caregiver ratings of social anxiety and speaking behaviors did not demonstrate a replicated intervention effect; however, Tau-U effect sizes and Reliable Change Index (RCI) calculations demonstrated significant individual improvements in social anxiety and speaking behaviors over time on several measures. Three children (60%) no longer met diagnostic criteria for SM following treatment. All caregivers rated IBTSM as acceptable, with specific endorsements of acceptability in the areas of time required and treatment quality.
PubMed: 37873803
DOI: 10.3390/pediatric15040057 -
BMC Neurology Oct 2023Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and ultimately fatal neurodegenerative condition caused by prions. The clinical symptoms of CJD vary with its...
BACKGROUND
Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and ultimately fatal neurodegenerative condition caused by prions. The clinical symptoms of CJD vary with its subtype, and may include dementia, visual hallucinations, myoclonus, ataxia, (extra)pyramidal signs and akinetic mutism. In the early course of disease however, several clinical symptoms of CJD may mimic those of co-existing morbidities.
CASE PRESENTATION
We report a male in his 60s with a history of situs inversus totalis and Churg Strauss syndrome, who presented with speech fluency disturbances, neuropsychiatric symptoms and allodynia, a few months after becoming a widower. Initially presumed a bereavement disorder along with a flare-up of Churg Strauss, his symptoms gradually worsened with apraxia, myoclonic jerks and eventually, akinetic mutism. MRI revealed hyperintensities at the caudate nucleus and thalami, while the cerebrospinal fluid was positive for the 14-3-3 protein and the real-time quick test, making the diagnosis of CJD highly probable. This case illustrates the complexities that may arise in diagnosing CJD when pre-existing multimorbidity may cloud the clinical presentation. We also discuss the potential mechanisms underlying the co-occurrence of three rare conditions (situs inversus totalis, Churg Strauss syndrome, CJD) in one patient, taking into consideration the possibility of coincidence as well as common underlying factors.
CONCLUSIONS
The diagnosis of CJD may be easily missed when its clinical symptoms are obscured by those of pre-existing (rare) multimorbidity. This case highlights that when the multimorbidity has neurological manifestations, an extensive evaluation remains crucial to establish the diagnosis, minimize the risk of prion-transmission and provide appropriate guidance to patients and their caregivers.
Topics: Humans; Male; Creutzfeldt-Jakob Syndrome; Akinetic Mutism; Churg-Strauss Syndrome; Multimorbidity; Myoclonus; Situs Inversus
PubMed: 37784069
DOI: 10.1186/s12883-023-03401-5 -
Cureus Aug 2023Catatonia, a relatively rare and less explored consequence of lithium-induced hypercalcemia, represents a notable yet understudied side effect. Lithium is utilized in...
Catatonia, a relatively rare and less explored consequence of lithium-induced hypercalcemia, represents a notable yet understudied side effect. Lithium is utilized in the management of acute mania and as a maintenance therapy for bipolar disorder. However, the specific catatonic presentation resulting from hypercalcemia remains poorly understood. Here, we present a case study involving a 55-year-old male with a history of schizoaffective disorder, bipolar type, who had been receiving lithium therapy. The patient presented with catatonia and altered mental status. Manifesting as mutism, rigidity, immobility, and staring, these symptoms were subsequently attributed to hyperparathyroidism-induced hypercalcemia. Markedly elevated levels of both calcium and parathyroid hormone (PTH) were detected in the patient's laboratory results. The patient's lithium therapy was promptly discontinued. Serum calcium and PTH levels began to decrease gradually and returned to normal limits over 29 days. The patient returned to his baseline level of functionality. There was a notable improvement in his mental status and his ability to communicate using simple sentences. This case underscores the significance of recognizing uncommon clinical presentations of hypercalcemia in patients undergoing chronic lithium therapy. Given the broad range of neuropsychiatric manifestations associated with hypercalcemia, it is crucial to enhance our understanding of this phenomenon and develop the capacity to differentiate it from primary psychiatric disturbances.
PubMed: 37750135
DOI: 10.7759/cureus.44114 -
World Journal of Clinical Cases Sep 2023Prion diseases are a group of degenerative nerve diseases that are caused by infectious prion proteins or gene mutations. In humans, prion diseases result from mutations...
BACKGROUND
Prion diseases are a group of degenerative nerve diseases that are caused by infectious prion proteins or gene mutations. In humans, prion diseases result from mutations in the prion protein gene (PRNP). Only a limited number of cases involving a specific PRNP mutation at codon 196 (E196A) have been reported. The coexistence of Korsakoff syndrome in patients with Creutzfeldt-Jakob disease (CJD) caused by E196A mutation has not been documented in the existing literature.
CASE SUMMARY
A 61-year-old Chinese man initially presented with Korsakoff syndrome, followed by rapid-onset dementia, visual hallucinations, akinetic mutism, myoclonus, and hyperthermia. The patient had no significant personal or familial medical history. Magnetic resonance imaging of the brain revealed extensive hyperintense signals in the cortex, while positron emission tomography/computed tomography showed a diffuse reduction in cerebral cortex metabolism. Routine biochemical and microorganism testing of the cerebrospinal fluid (CSF) yielded normal results. Tests for thyroid function, human immunodeficiency virus, syphilis, vitamin B1 and B12 levels, and autoimmune rheumatic disorders were normal. Blood and CSF tests for autoimmune encephalitis and autoantibody-associated paraneoplastic syndrome yielded negative results. A test for 14-3-3 protein in the CSF yielded negative results. Whole-genome sequencing revealed a disease-causing mutation in PRNP. The patient succumbed to the illness 11 months after the initial symptom onset.
CONCLUSION
Korsakoff syndrome, typically associated with alcohol intoxication, also manifests in CJD patients. Individuals with CJD along with PRNP E196A mutation may present with Korsakoff syndrome.
PubMed: 37727484
DOI: 10.12998/wjcc.v11.i25.5982