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BMC Neurology Jul 2023Creutzfeldt-Jakob disease (CJD), is a deadly degenerative condition of the central nervous system marked by rapidly progressive dementia. Magnetic resonance imaging...
BACKGROUND
Creutzfeldt-Jakob disease (CJD), is a deadly degenerative condition of the central nervous system marked by rapidly progressive dementia. Magnetic resonance imaging (MRI) abnormalities in the cerebral cortex, basal ganglia, thalamus, and cerebellum could indicate severe acute diseases caused by a variety of factors. Although their MRI patterns may resemble those of CJD, clinical history, additional MRI findings, and laboratory testing are all necessary to provide a reliable difference. Here, we report a misdiagnosed case of probable VV1 subtype of sporadic CJD (sCJD) in which follow-up MRI supported the diagnosis.
CASE PRESENTATION
A 41-year-old male patient attended the Neuropsychiatry Department with rapidly progressive dementia, akinetic mutism, and difficulty walking and speaking. His problem began with forgetfulness, disorganized behavior, and disorganized speech 7 months earlier which progressed rapidly and was accompanied by aphasia, apraxia, agnosia, and akinetic mutism in the last 2 months. On neurologic examination, hypertonia, hyperreflexia, frontal ataxia, bradykinesia, gait apraxia, and aphasia were noted. Based on clinical features and rapid symptoms progression the likely diagnosis of CJD was suspected. MRI and electroencephalography (EEG) were advised. MRI revealed features of diffuse cortical injury of both cerebral hemispheres also involving bilateral corpus striatum with evidence of cerebral volume loss. EEG showed lateralized periodic theta slow waves on the right side. According to the CDC's diagnostic criteria for CJD, the diagnosis of probable sCJD was established. Supportive care and symptomatic treatment are provided for the patient. After a 1-month follow up the patient's condition deteriorated significantly. The time-lapse from the first reported symptom to death was about 13 months.
CONCLUSION
The need of addressing CJD in patients presenting with rapidly progressive dementia is highlighted in this case report. In the early stages of the disease, interpretation of MRI results might cause diagnostic difficulties; therefore, follow-up MRI is critical in obtaining the correct diagnosis.
Topics: Male; Humans; Adult; Creutzfeldt-Jakob Syndrome; Akinetic Mutism; Magnetic Resonance Imaging; Electroencephalography; Diagnostic Errors
PubMed: 37464286
DOI: 10.1186/s12883-023-03318-z -
Case Reports in Psychiatry 2023Catatonia is a neuropsychiatric syndrome, which typically occurs in the context of another psychiatric or medical condition, with a significant morbidity and mortality...
BACKGROUND
Catatonia is a neuropsychiatric syndrome, which typically occurs in the context of another psychiatric or medical condition, with a significant morbidity and mortality risk. Significant medical conditions resulting from catatonia include nutritional deficiencies, skin ulcerations, electrolyte disturbances, aspiration pneumonia, and venous thromboembolism. As a result, prompt treatment is required. Gold standard treatment consists of benzodiazepines, followed by electroconvulsive therapy (ECT) if pharmacotherapy alone is ineffective. With pregnancy and catatonia, there is a high risk of adverse maternal/fetal outcomes, and the risks/benefits of treatment must be carefully considered.
CASE
Here, we present a case of a young pregnant woman with schizoaffective disorder whose catatonic state was not successfully resolved with lorazepam, therefore requiring ECT. Patient presented to the emergency department at 20 weeks of pregnancy, displaying symptoms of catatonia and psychosis. She was admitted to the inpatient behavioral health unit, where she was treated with lorazepam for catatonia. Treatment occurred in close collaboration with the obstetrics team. While initially, the patient appeared to have a positive response to lorazepam, she became increasingly catatonic with minimal oral intake, mutism, and urinary retention. As a result, she was transferred to the medical floor, where ECT was initiated due to the ineffectiveness of lorazepam. Her catatonia was successfully resolved with 12 total treatments of ECT; there were no adverse effects to the fetus. Patient delivered her baby at 39 weeks with no complications. She continued to receive inpatient psychiatric care until she was stable for discharge to an extended acute care unit.
OBJECTIVES
In this report, we will review relevant literature on catatonia in pregnancy, with focus on treatment with ECT.
CONCLUSIONS
Though the literature on these topics is limited and typically presented in case reports format, there appears to be a favorable view toward the use of ECT for pregnant catatonic patients. This case could be considered a vital contribution to the literature, as it provides a successful example of treating catatonia in pregnancy with no known adverse effects to the mother or child.
PubMed: 37456983
DOI: 10.1155/2023/9601642 -
Neurology Sep 2023Patients with classic locked-in syndrome (LIS), typically caused by ventral pontine stroke, present with quadriplegia, mutism, intact consciousness, and communication...
BACKGROUND AND OBJECTIVES
Patients with classic locked-in syndrome (LIS), typically caused by ventral pontine stroke, present with quadriplegia, mutism, intact consciousness, and communication skills limited to vertical gazing and/or blinking. Clinical presentations and definitions of differ, especially regarding incomplete LIS. In our study, we explored the functional diversity of LIS, its outcomes, and the complexity of its course along with variations in the location of lesions and their potential significance for outcomes.
METHODS
A national cohort of patients with vascular LIS who remained in the LIS state for at least 6 weeks according to a functional definition of was studied. Demographic, medical, and follow-up data, collected between 2012 and 2022, were obtained from the quality register of the Norwegian National Unit for Rehabilitation of Locked-In Syndrome. Outcomes in verbal communication, motor function, and dependency were evaluated according to criteria for being in or not in the LIS state. The modified Rankin scale and LIS motor recovery scale were applied. Descriptive analysis was performed. The relationship between lesion location and functional outcome was investigated.
RESULTS
The sample included 51 patients (median age: 55.7 years, 36 male individuals), 43 of whom had follow-up data. Ischemic stroke was the most common etiology (n = 35). Twenty-three patients had emerged from the LIS state, mostly within 2 years after onset. All but 1 patient achieved some motor improvement, whereas only 3 achieved full motor recovery, and 88% had a persistently high level of dependence. The 3-year survival rate was 87%. Five patients had an isolated pontine lesion, whereas 80% showed various lesions outside the brain stem. Patients who emerged from the LIS state had a significantly lower prevalence of lesions outside the brain stem than patients who remained in the LIS state did.
DISCUSSION
Investigating an unselected population-based sample of patients with vascular LIS offers important insights into the functional diversity of LIS. Although most patients remained severely disabled, even small improvements in function can substantially increase the potential for activity and participation. Additional lesions outside the brain stem seem to be common in long-lasting LIS and might be prognostic for remaining in the LIS state.
Topics: Humans; Male; Middle Aged; Locked-In Syndrome; Quadriplegia; Communication; Consciousness; Demography
PubMed: 37442623
DOI: 10.1212/WNL.0000000000207577 -
SAGE Open Medical Case Reports 2023Primary hyperparathyroidism is a disease with multisystemic and heterogeneous manifestations, characterized by underlying high parathormone concentrations. Despite...
Primary hyperparathyroidism is a disease with multisystemic and heterogeneous manifestations, characterized by underlying high parathormone concentrations. Despite neuropsychiatric involvement being one of the manifestations, psychosis is rare. This is the case of a 68-year-old female with a 10-day clinical course of anorexia, mutism, dysphagia, constipation, and weight loss. The patient had disorganized speech associated with paranoid delusions. Prior to this visit, the patient was recently diagnosed with a mixed anxiety-depressive disorder. For this reason, treatment with antidepressants in combination with atypical antipsychotics was administered without a satisfactory response. Neuroimaging, infectious panel, and toxicology screening showed no abnormal findings. Hypercalcemia secondary to a retropharyngeal ectopic parathyroid adenoma was the causative etiology of her primary hyperparathyroidism, and hypercalcemia treatment resolved the psychotic episode. We highlight the importance of recognizing psychosis as a possible initial presentation of hyperparathyroidism and hypercalcemia. Ruling out organic etiologies prior to diagnosing a primary cause of psychosis is crucial, as their treatment can reverse the psychotic symptoms.
PubMed: 37434899
DOI: 10.1177/2050313X231180752 -
Brain : a Journal of Neurology Nov 2023Cerebellar mutism syndrome is a disorder of speech, movement and affect that can occur after tumour removal from the posterior fossa. Projections from the fastigial...
Cerebellar mutism syndrome is a disorder of speech, movement and affect that can occur after tumour removal from the posterior fossa. Projections from the fastigial nuclei to the periaqueductal grey area were recently implicated in its pathogenesis, but the functional consequences of damaging these projections remain poorly understood. Here, we examine functional MRI data from patients treated for medulloblastoma to identify functional changes in key brain areas that comprise the motor system for speech, which occur along the timeline of acute speech impairment in cerebellar mutism syndrome. One hundred and twenty-four participants, all with medulloblastoma, contributed to the study: 45 with cerebellar mutism syndrome, 11 patients with severe postoperative deficits other than mutism, and 68 without either (asymptomatic). We first performed a data-driven parcellation to spatially define functional nodes relevant to the cohort that align with brain regions critical for the motor control of speech. We then estimated functional connectivity between these nodes during the initial postoperative imaging sessions to identify functional deficits associated with the acute phase of the disorder. We further analysed how functional connectivity changed over time within a subset of participants that had suitable imaging acquired over the course of recovery. Signal dispersion was also measured in the periaqueductal grey area and red nuclei to estimate activity in midbrain regions considered key targets of the cerebellum with suspected involvement in cerebellar mutism pathogenesis. We found evidence of periaqueductal grey dysfunction in the acute phase of the disorder, with abnormal volatility and desynchronization with neocortical language nodes. Functional connectivity with periaqueductal grey was restored in imaging sessions that occurred after speech recovery and was further shown to be increased with left dorsolateral prefrontal cortex. The amygdalae were also broadly hyperconnected with neocortical nodes in the acute phase. Stable connectivity differences between groups were broadly present throughout the cerebrum, and one of the most substantial differences-between Broca's area and the supplementary motor area-was found to be inversely related to cerebellar outflow pathway damage in the mutism group. These results reveal systemic changes in the speech motor system of patients with mutism, centred on limbic areas tasked with the control of phonation. These findings provide further support for the hypothesis that periaqueductal grey dysfunction (following cerebellar surgical injury) contributes to the transient postoperative non-verbal episode commonly observed in cerebellar mutism syndrome but highlights a potential role of intact cerebellocortical projections in chronic features of the disorder.
Topics: Humans; Medulloblastoma; Speech; Mutism; Cerebellar Neoplasms; Cerebellum; Cerebellar Diseases; Mesencephalon; Postoperative Complications
PubMed: 37343136
DOI: 10.1093/brain/awad209 -
Cerebellum (London, England) Apr 2024Following cerebellar tumour surgery, children may suffer impairments of spontaneous language. Yet, the language processing deficits underlying these impairments are...
Following cerebellar tumour surgery, children may suffer impairments of spontaneous language. Yet, the language processing deficits underlying these impairments are poorly understood. This study is the first to try to identify these deficits for four levels of language processing in cerebellar tumour survivors. The spontaneous language of twelve patients who underwent cerebellar tumour surgery (age range 3-24 years) was compared against his or her controls using individual case statistics. A distinction was made between patients who experienced postoperative cerebellar mutism syndrome (pCMS) and those who did not. Time since surgery ranged between 11 months and 12;3 years. In order to identify the impaired language processing levels at each processing level (i.e., lexical, semantic, phonological and/or morphosyntactic) nouns and verbs produced in the spontaneous language samples were rated for psycholinguistic variables (e.g., concreteness). Standard spontaneous language measures (e.g., type-token ratio) were calculated as well. First, inter-individual heterogeneity was observed in the spontaneous language outcomes in both groups. Nine out of twelve patients showed language processing deficits three of whom were diagnosed with pCMS. Results implied impairments across all levels of language processing. In the pCMS-group, the impairments observed were predominantly morphosyntactic and semantic, but the variability in nature of the spontaneous language impairments was larger in the non-pCMS-group. Patients treated with cerebellar tumour surgery may show long-term spontaneous language impairments irrespective of a previous pCMS diagnosis. Individualised and comprehensive postoperative language assessments seem necessary, given the inter-individual heterogeneity in the language outcomes.
Topics: Humans; Child; Male; Female; Child, Preschool; Adolescent; Young Adult; Adult; Cerebellar Neoplasms; Postoperative Complications; Cerebellum; Cerebellar Diseases; Mutism; Psycholinguistics; Language Development Disorders
PubMed: 37184608
DOI: 10.1007/s12311-023-01563-z -
Child's Nervous System : ChNS :... Aug 2023Cerebellar mutism syndrome (CMS) is a well-known complication of posterior fossa (PF) tumour surgery. CMS has previously been reported in cases of non-tumour surgical... (Review)
Review
Cerebellar mutism syndrome (CMS) is a well-known complication of posterior fossa (PF) tumour surgery. CMS has previously been reported in cases of non-tumour surgical aetiology in a limited number of publications. We report a case of a 10-year-old girl who suffered a cerebellar haemorrhage and subsequent CMS following surgical treatment of a ruptured arteriovenous malformation (AVM) in the cerebellar vermis. The AVM was removed acutely through a transvermian access, and hydrocephalus was treated with temporary external drainage. In the postoperative period, she suffered diffuse vasospasms of the anterior cerebral circulation and had a permanent shunt placed for hydrocephalus. Her mutism resolved after 45 days but severe ataxia persisted. To our knowledge, this is the first reported case of CMS related to a vermian haemorrhagic stroke with postoperative diffuse vasospasms. Based on this case, we present a literature review on CMS of non-tumour surgical origin in children.
Topics: Humans; Child; Female; Mutism; Cerebellar Diseases; Brain Neoplasms; Infratentorial Neoplasms; Syndrome; Postoperative Complications; Hydrocephalus; Cerebellar Neoplasms
PubMed: 37140666
DOI: 10.1007/s00381-023-05947-8 -
The European Journal of Neuroscience Mar 2024The clinical assessment of patients with disorders of consciousness (DoC) relies on the observation of behavioural responses to standardised sensory stimulation....
The clinical assessment of patients with disorders of consciousness (DoC) relies on the observation of behavioural responses to standardised sensory stimulation. However, several medical comorbidities may directly impair the production of reproducible and appropriate responses, thus reducing the sensitivity of behaviour-based diagnoses. One such comorbidity is akinetic mutism (AM), a rare neurological syndrome characterised by the inability to initiate volitional motor responses, sometimes associated with clinical presentations that overlap with those of DoC. In this paper, we describe the case of a patient with large bilateral mesial frontal lesions, showing prolonged behavioural unresponsiveness and severe disorganisation of electroencephalographic (EEG) background, compatible with a vegetative state/unresponsive wakefulness syndrome (VS/UWS). By applying an unprecedented multimodal battery of advanced imaging and electrophysiology-based techniques (AIE) encompassing spontaneous EEG, evoked potentials, event-related potentials, transcranial magnetic stimulation combined with EEG and structural and functional MRI, we provide the following: (i) a demonstration of the preservation of consciousness despite unresponsiveness in the context of AM, (ii) a plausible neurophysiological explanation for behavioural unresponsiveness and its subsequent recovery during rehabilitation stay and (iii) novel insights into the relationships between DoC, AM and parkinsonism. The present case offers proof-of-principle evidence supporting the clinical utility of a multimodal hierarchical workflow that combines AIEs to detect covert signs of consciousness in unresponsive patients.
Topics: Humans; Akinetic Mutism; Unconsciousness; Consciousness; Electroencephalography; Electric Stimulation Therapy
PubMed: 37077023
DOI: 10.1111/ejn.15994