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Caspian Journal of Internal Medicine 2021Creutzfeldt-Jakob disease (CJD) as a life-threatening neurodegenerative disorder is not usually diagnosed in early stages of the disease because of a variety in its...
BACKGROUND
Creutzfeldt-Jakob disease (CJD) as a life-threatening neurodegenerative disorder is not usually diagnosed in early stages of the disease because of a variety in its clinical manifestations. This study aimed to present a middle-aged woman with psychiatric symptoms who ultimately was diagnosed as a CJD case.
CASE PRESENTATION
This 48-year-old woman had progressive symptoms of depressed mood, decreased sleep and appetite and mutism which started two months before the first visit. Gradually, slowness in movements, dysarthria and decreased performance were observed. Subsequently, when antidepressant and antipsychotic drugs were prescribed other symptoms such as ataxia and rigidity manifested in the patient. The problem list which led to final confirmation of the disease included non-specific neuropsychological presentations, hypersignality in caudate and putamen areas in brain MRI, generalized high frequency sharp waves in EEG, and protein 14-3-3 identification in cerebrospinal fluid.
CONCLUSION
Although CJD is not a common disease, it should be considered in differential diagnoses whenever neuropsychological manifestations, especially progressive decline in cognition, along with symptoms such as visual hallucinations, myoclonus and ataxia are observed in the patient.
PubMed: 34760082
DOI: 10.22088/cjim.12.0.359 -
Case Reports in Psychiatry 2021. Catatonia is caused by a variety of psychiatric and organic conditions. The onset, clinical profile, and response to treatment may vary depending on the underlying...
. Catatonia is caused by a variety of psychiatric and organic conditions. The onset, clinical profile, and response to treatment may vary depending on the underlying cause. Catatonia is more likely to be associated with neurotic and psychotic disorders, but some psychiatric symptoms are key components in the clinical presentation of other medical conditions. . We report the case of a woman who started showing paroxysmal recurrent episodes since the age of 57 years, characterized by surrounding disconnection, disorientation, and muscle spasm (myoclonus), followed by a postictal state. In the following months, the symptoms evolved to akinetic mutism, catatonia, and rapidly progressive vision and audition loss. She underwent a battery of tests, most of them inconclusive, until a neoplastic meningoencephalitis was diagnosed after more than two years of symptoms. Numerous medical conditions can mimic psychiatric disorders. This uncommon presentation may lead to a late diagnosis and treatment initiation, increasing significantly morbidity and mortality. A differential diagnosis with infectious, autoimmune, and neoplastic etiologies should always be carried out.
PubMed: 34745679
DOI: 10.1155/2021/5936673 -
European Child & Adolescent Psychiatry Oct 2023Selective mutism (SM) is an anxiety disorder (prevalence 1-2%), characterized by the consistent absence of speaking in specific situations (e.g., in school), while... (Review)
Review
Selective mutism (SM) is an anxiety disorder (prevalence 1-2%), characterized by the consistent absence of speaking in specific situations (e.g., in school), while adequately speaking in other situations (e.g., at home). SM can have a debilitating impact on the psychosocial and academic functioning in childhood. The use of psychometrically sound and cross-culturally valid instruments is urgently needed.The aim of this paper is to identify and review the available assessment instruments for screening or diagnosing the core SM symptomatology. We conducted a systematic search in 6 databases. We identified 1469 studies from the last decade and investigated the measures having been used in a diagnostic assessment of SM. Studies were included if original data on the assessment or treatment of SM were reported. It was found that 38% of published studies on SM reporting original data did not report the use of any standardized or objective measure to investigate the core symptomatology. The results showed that many different questionnaires, interviews and observational instruments were used, many of these only once. The Selective Mutism Questionnaire (SMQ), Anxiety Disorders Interview Schedule (ADIS) and School Speech Questionnaire (SSQ) were used most often. Psychometric data on these instruments are emerging. Beyond these commonly used instruments, more recent developed instruments, such as the Frankfurt Scale of SM (FSSM) and the Teacher Telephone Interview for SM (TTI-SM), are described, as well as several interesting observational measures. The strengths and weaknesses of the instruments are discussed and recommendations are made for their use in clinical practice and research.
Topics: Child; Humans; Mutism; Anxiety Disorders; Surveys and Questionnaires; Child Behavior Disorders; Schools
PubMed: 34853909
DOI: 10.1007/s00787-021-01907-2 -
Zhurnal Voprosy Neirokhirurgii Imeni N.... 2014Traditionally psychological neurorehabilitation of neurosurgical patients is provided subject to availability of clear consciousness and minimal potential to communicate... (Review)
Review
Traditionally psychological neurorehabilitation of neurosurgical patients is provided subject to availability of clear consciousness and minimal potential to communicate verbally. Cognitive and emotional disorders, problems in social adaptation, neurotic syndromes are normally targets in such cases. We work with patients having survived severe brain damage being in different states of consciousness: vegetative state, minimal state of consciousness, mutism, confusion, posttraumatic Korsaroff syndrom. Psychologist considers recovery of consciousness as the target besides traditional tasks. Construction of communication with patient is central part of such job, where the patient remains unable to contact verbally, yet it is impossible to consider potential aphasia. This is a non-verbal "dialogue" with patient created by psychologist with gradual development and involving other people and objects of environment. Inline with modern neuroscientific achievements demonstrating ability to recognize by patients with severe brain injury (A. Owen, S. Laureys, M. Monti, M. Coleman, A. Soddu, M. Boly and others) we base upon psychological science, on psychotherapeutic approaches containing instruments inevitable to work with patients in altered states of consciousness and creation of non-verbal communication with patient (Jung, Reich, Alexander, Lowen, Keleman, Arnold and Amy Mindell, S. Tomandl, D. Boadella, A. Längle, P. Levin etc). This article will include 15 years of experience to apply Process-oriented approach by A. Mindell to recovery of consciousness of neurosurgical patients based on work with "minimal signals" (micro moves, breath, mimic reactions etc.), principle of feedback, psychosomatic resonance, empathy.
Topics: Adult; Brain Injuries; Consciousness; Female; Humans; Physical Therapy Modalities; Psychotherapy
PubMed: 24761599
DOI: No ID Found -
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 -
Child's Nervous System : ChNS :... Sep 2021Paediatric postoperative cerebellar mutism syndrome (ppCMS) is a common complication following the resection of a cerebellar tumour in children. It is hypothesized that... (Review)
Review
BACKGROUND
Paediatric postoperative cerebellar mutism syndrome (ppCMS) is a common complication following the resection of a cerebellar tumour in children. It is hypothesized that loss of integrity of the cerebellar output tracts results in a cerebello-cerebral "diaschisis" and reduced function of supratentorial areas of the brain.
METHODS
We performed a systematic review of the literature according to the PRISMA guidelines, in order to evaluate the evidence for hypoperfusion or hypofunction in the cerebral hemispheres in patients with ppCMS. Articles were selected based on the predefined eligibility criteria and quality assessment.
RESULTS
Five studies were included, consisting of three prospective cohort studies, one retrospective cohort study and one retrospective case control study. Arterial spin labelling (ASL) perfusion MRI, dynamic susceptibility contrast (DSC) perfusion MRI and single photon emission computed tomography (SPECT) were used to measure the cerebral and cerebellar tissue perfusion or metabolic activity. Reduced cerebral perfusion was predominantly demonstrated in the frontal lobe.
CONCLUSIONS
This systematic review shows that, after posterior fossa tumour resection, cerebral perfusion is reduced in ppCMS patients compared to patients without ppCMS. Well-powered prospective studies, including preoperative imaging, are needed to ascertain the cause and role of hypoperfusion in the pathophysiology of the syndrome.
Topics: Case-Control Studies; Cerebellar Diseases; Cerebellum; Cerebrovascular Circulation; Child; Humans; Mutism; Perfusion; Postoperative Complications; Prospective Studies; Retrospective Studies
PubMed: 34155533
DOI: 10.1007/s00381-021-05225-5 -
Neurologia Medico-chirurgica 2013Dural arteriovenous fistula (DAVF) is rarely associated with parkinsonism. A 52-year-old woman presented with a rare case of DAVF manifesting as parkinsonism and... (Review)
Review
Dural arteriovenous fistula (DAVF) is rarely associated with parkinsonism. A 52-year-old woman presented with a rare case of DAVF manifesting as parkinsonism and subsequently akinetic mutism. She showed dramatic recovery after endovascular treatment. We also review 10 published reports of DAVF presenting with parkinsonism. The clinical features of these cases at presentation was more closely compatible with lower body parkinsonism or vascular parkinsonism rather than Parkinson's disease. Most lesions are located at the transverse-sigmoid sinus (TSS) with venous reflux into the straight sinus with probable venous congestion of the basal ganglia. Most importantly, parkinsonism due to TSS DAVF is reversible if embolization is achieved successfully.
Topics: Central Nervous System Vascular Malformations; Cerebral Angiography; Cranial Sinuses; Diagnosis, Differential; Diffusion Magnetic Resonance Imaging; Embolization, Therapeutic; Female; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Middle Aged; Neurologic Examination; Parkinsonian Disorders; Tomography, X-Ray Computed; Transverse Sinuses
PubMed: 23615412
DOI: 10.2176/nmc.53.224 -
Psychiatria Polska Apr 2018The position of selective mutism disorder - SM - has been modified in the last edition of the classification of mental disorders DSM-5. It was removed from "Disorders of... (Review)
Review
The position of selective mutism disorder - SM - has been modified in the last edition of the classification of mental disorders DSM-5. It was removed from "Disorders of childhood and adolescence" and placed in "Anxiety disorders". This caused two important changes in the interpretation of the symptoms of selective mutism. It highlighted anxious etiology of the disorder and also open the possibility to diagnose selective mutism in adults as a special category of anxiety disorders. The aim of this study was to present three different cases concerning the diagnostic difficulties of selective mutism (the child, the teenager and the persons who became adult during our observation) regarding current views on SM. In this study we presented the current view on the etiology, course and available therapies for selective mutism. Owing to updating the clinical knowledge about SM and describing three cases, we highlighted the controversies around the diagnosis and treatment of this disorder. Selective mutism might be a preliminary diagnosis, often leading to the diagnosis of other disorders of diverse etiology and course. Among the psychiatric aspects of the disorder, the 'anxiety component' of SM is crucial. In individuals with selective mutism, developmental disorders, social cognition and neurocognition deficits or dysfunctions of auditory processing often coexist. The severity and the type of comorbidities may determine the future course of the illness and the final effects of the therapy.
Topics: Adolescent; Adult; Anxiety Disorders; Child; Child Behavior Disorders; Female; Humans; Male; Mutism; Phobic Disorders; Risk Assessment; Severity of Illness Index
PubMed: 29975370
DOI: 10.12740/PP/76088 -
Psychiatry (Edgmont (Pa. : Township)) Mar 2010Selective mutism is a rare and multidimensional childhood disorder that typically affects children entering school age. It is characterized by the persistent failure to...
Selective mutism is a rare and multidimensional childhood disorder that typically affects children entering school age. It is characterized by the persistent failure to speak in select social settings despite possessing the ability to speak and speak comfortably in more familiar settings. Many theories attempt to explain the etiology of selective mutism.Comorbidities and treatment. Selective mutism can present a variety of comorbidities including enuresis, encopresis, obsessive-compulsive disorder, depression, premorbid speech and language abnormalities, developmental delay, and Asperger's disorders. The specific manifestations and severity of these comorbidities vary based on the individual. Given the multidimensional manifestations of selective mutism, treatment options are similarly diverse. They include individual behavioral therapy, family therapy, and psychotherapy with antidepressants and anti-anxiety medications.Future directions. While studies have helped to elucidate the phenomenology of selective mutism, limitations and gaps in knowledge still persist. In particular, the literature on selective mutism consists primarily of small sample populations and case reports. Future research aims to develop an increasingly integrated, multidimensional framework for evaluating and treating children with selective mutism.
PubMed: 20436772
DOI: No ID Found -
Journal of Anxiety Disorders 1999The relationship between selective mutism (SM) and childhood anxiety disorders is illustrated through an examination of their temperamental, environmental, and... (Review)
Review
The relationship between selective mutism (SM) and childhood anxiety disorders is illustrated through an examination of their temperamental, environmental, and biological etiologies. SM is also explored as a symptom of the specific anxiety disorders of social phobia, separation anxiety, and posttraumatic stress disorder. The etiology and symptom overlap demonstrates SM as being an anxiety disorder or a variant of a specific anxiety disorder. The conceptualization of SM as an anxiety disorder is helpful in effectively treating afflicted children. There is enough evidence in the current literature to challenge the current classification, from the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders of SM as an Other Disorder of Infancy, Childhood, and Adolescence.
Topics: Anxiety Disorders; Anxiety, Separation; Child; Child Development; Female; Humans; Male; Mutism; Phobic Disorders; Sex Factors; Shyness; Stress Disorders, Post-Traumatic
PubMed: 10504110
DOI: 10.1016/s0887-6185(99)00012-2