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Behavioural Neurology 2020To study the clinical manifestations, magnetic resonance imaging (MRI) findings, and prognosis of delayed encephalopathy after carbon monoxide poisoning (DEACMP).
OBJECTIVE
To study the clinical manifestations, magnetic resonance imaging (MRI) findings, and prognosis of delayed encephalopathy after carbon monoxide poisoning (DEACMP).
METHODS
The medical records of 20 patients with DEACMP were retrospectively reviewed. All the patients received hyperbaric oxygen treatment and other treatments as necessary.
RESULTS
The patients had diverse clinical manifestations, including memory deficits, personality changes, cognitive or executive function deficits, mood disorders, Parkinsonism, dystonia or other motor impairments, and akinetic mutism. MRI revealed lesions in the bilateral cerebral white matter and/or basal ganglia. Except for the pathologically confirmed DEACMP, epileptic seizure, hemiplegia, and vegetative state, the remaining symptoms had been improved, especially the cognitive impairment, which had been decreased from 95% to 25% and psychiatric symptoms also decreased from 95% to 55% at the 6-month follow-up.
CONCLUSIONS
The prognosis of patients with DEACMP was poor, and they had a relatively severe disability. The early use of hyperbaric oxygen is of great significance to improve clinical efficacy and get a better prognosis.
Topics: Brain Diseases; Carbon Monoxide Poisoning; Humans; Magnetic Resonance Imaging; Prognosis; Retrospective Studies
PubMed: 33376556
DOI: 10.1155/2020/1719360 -
Age and Ageing May 2024Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive neurodegenerative disease with public health implications. Mean age of onset is 68 years....
INTRODUCTION
Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive neurodegenerative disease with public health implications. Mean age of onset is 68 years. Age-specific incidence declines after 80 years. This may arise from under-ascertainment or other biological features of the disease. Accurate characterisation of late-onset sCJD is important for early diagnosis, avoiding unnecessary investigations and improving ascertainment for public health purposes.
OBJECTIVE
To phenotype the clinical features and investigation profile of sCJD in adults >80 years.
METHODS
We analysed all probable and definite sCJD cases identified by the UK National CJD Research & Surveillance Unit over a 10-year period (2011-2021). Individuals were grouped by age of onset. Clinical features and investigation profiles were compared.
RESULTS
10.3% (123/1196) had an age of onset over 80. Median survival was shorter (3.2 vs 4.3 months; P < 0.001). Pyramidal signs (48.3% vs 34.2%; P = 0.008) and akinetic mutism (55.1% vs 33.2%; P < 0.001) were more frequent. Psychiatric symptoms (26.3% vs 39.6%; P = 0.01) and cerebellar signs (65.4% vs 78.6%, P = 0.007) were less frequent. Cognitive impairment and myoclonus were highly prevalent regardless of age. Between age groups, the diagnostic sensitivity of cerebrospinal fluid real-time quaking-induced conversion (CSF RT-QuIC) (92.9% vs 91.9%, P = 0.74) was comparable, electroencephalography was superior (41.5% vs 25.4%; P = 0.006) and MRI was inferior (67.8% vs 91.4%; P < 0.001).
CONCLUSIONS
Late-onset sCJD has distinct clinical features, shorter survival and a different profile of investigation sensitivity. CSF RT-QuIC, MRI brain and specialist CJD review is recommended in older adults with a rapidly progressive neurological disorder. Autopsy is valuable when the cause remains elusive.
Topics: Humans; Creutzfeldt-Jakob Syndrome; United Kingdom; Male; Female; Aged, 80 and over; Age of Onset; Incidence; Phenotype; Magnetic Resonance Imaging; Electroencephalography
PubMed: 38706391
DOI: 10.1093/ageing/afae086 -
Acta Neurochirurgica Mar 2021Superior medullary velum cerebral cavernous malformations pose a challenge in terms of appropriate microsurgical approach. Safe access to this deep location as well as...
Medial-tonsillar telovelar approach for resection of a superior medullary velum cerebral cavernous malformation: anatomical and tractography study of the surgical approach and functional implications.
BACKGROUND
Superior medullary velum cerebral cavernous malformations pose a challenge in terms of appropriate microsurgical approach. Safe access to this deep location as well as preservation of surrounding anatomical structures, in particular the superior cerebellar peduncle just lateral to the superior medullary velum and the dentate nuclei, is paramount to achieve a good functional outcome.
METHODS
Cadaveric dissections provide useful knowledge of the normal anatomy while tractography allows a better understanding of the individual anatomy in the presence of a lesion. The medial-tonsillar telovelar approach provides a feasible corridor for accessing superior velum cerebral cavernous malformations without compromising the fibres contained in the superior cerebellar peduncle. The major cerebellar efferents-cerebello-rubral, cerebello-thalamic and cerebello-vestibular tracts-and afferents, anterior spinocerebellar, tectocerebellar and trigeminocerebellar tracts, within the superior cerebellar peduncle are preserved, and the dentate nuclei are not affected.
RESULTS AND CONCLUSION
A retraction-free exposure through this natural posterior fossa corridor allows the patient with the anatomical and functional subtract to make a good functional recovery by minimizing the risk of a superior cerebellar syndrome, ataxia, tremor and dysmetria; decomposition of movement in the ipsilateral extremities, nystagmus and hypotonia; or akinetic mutism, reduced or absent speech with onset within the first post-operative week.
Topics: Cadaver; Cerebellar Diseases; Cerebellum; Diffusion Tensor Imaging; Fourth Ventricle; Hemangioma, Cavernous, Central Nervous System; Humans; Natural Orifice Endoscopic Surgery; Neurosurgical Procedures; Postoperative Complications
PubMed: 32524247
DOI: 10.1007/s00701-020-04418-2 -
Neurology. Genetics Oct 2016To investigate the molecular basis of a Belgian family with autosomal recessive adult-onset neuronal ceroid lipofuscinosis (ANCL or Kufs disease [KD]) with pronounced...
OBJECTIVE
To investigate the molecular basis of a Belgian family with autosomal recessive adult-onset neuronal ceroid lipofuscinosis (ANCL or Kufs disease [KD]) with pronounced frontal lobe involvement and to expand the findings to a cohort of unrelated Belgian patients with frontotemporal dementia (FTD).
METHODS
Genetic screening in the ANCL family and FTD cohort (n = 461) was performed using exome sequencing and targeted massive parallel resequencing.
RESULTS
We identified a homozygous mutation (p.Ile404Thr) in the Cathepsin F (CTSF) gene cosegregating in the ANCL family. No other mutations were found that could explain the disease in this family. All 4 affected sibs developed motor symptoms and early-onset dementia with prominent frontal features. Two of them evolved to akinetic mutism. Disease presentation showed marked phenotypic variation with the onset ranging from 26 to 50 years. Myoclonic epilepsy in one of the sibs was suggestive for KD type A, while epilepsy was not present in the other sibs who presented with clinical features of KD type B. In a Belgian cohort of unrelated patients with FTD, the same heterozygous p.Arg245His mutation was identified in 2 patients who shared a common haplotype.
CONCLUSIONS
A homozygous CTSF mutation was identified in a recessive ANCL pedigree. In contrast to the previous associations of CTSF with KD type B, our findings suggest that CTSF genetic testing should also be considered in patients with KD type A as well as in early-onset dementia with prominent frontal lobe and motor symptoms.
PubMed: 27668283
DOI: 10.1212/NXG.0000000000000102 -
Case Reports in Neurological Medicine 2016We report on two cases of transient akinetic mutism after massive subarachnoid haemorrhage due to the rupture of an intracranial aneurysm of the anterior cerebral artery...
Reversible Akinetic Mutism after Aneurysmal Subarachnoid Haemorrhage in the Territory of the Anterior Cerebral Artery without Permanent Ischaemic Damage to Anterior Cingulate Gyri.
We report on two cases of transient akinetic mutism after massive subarachnoid haemorrhage due to the rupture of an intracranial aneurysm of the anterior cerebral artery (ACA). In the two cases, vasospasm could not be demonstrated by imaging studies throughout the clinical course. Both patients shared common radiological features: a hydrocephalus due to haemorrhagic contamination of the ventricular system and a mass effect of a subpial hematoma on the borders of the corpus callosum. Patients were also investigated using auditory event-related evoked potentials at acute stage. In contrast to previous observations of akinetic mutism, P300 wave could not be recorded. Both patients had good recovery and we hypothesized that this unexpectedly favourable outcome was due to the absence of permanent structural damage to the ACA territory, with only transient dysfunction due to a reversible mass effect on cingulate gyri.
PubMed: 27418987
DOI: 10.1155/2016/5193825 -
Neurologia I Neurochirurgia Polska 2023Steroid-responsive encephalopathy in autoimmune thyroiditis (SREAT) is characterised by a wide range of neuropsychiatric symptoms and elevated thyroid antibodies. SREAT...
INTRODUCTION
Steroid-responsive encephalopathy in autoimmune thyroiditis (SREAT) is characterised by a wide range of neuropsychiatric symptoms and elevated thyroid antibodies. SREAT can mimic sporadic Creutzfeldt-Jakob disease (sCJD) and distinguishing between both entities is important because SREAT responds to corticosteroids.
MATERIAL AND METHODS
Data of patients reported to the National Reference Centre for the Surveillance of CJD in Göttingen, Germany between August 1994 and October 2008 was retrospectively reviewed. In the case and control groups, 49 patients had SREAT and 48 had sCJD with elevated thyroid antibodies.
RESULTS
Antibodies against thyroid peroxidase were the most common antibodies in both SREAT (86%) and sCJD (88%), followed by antibodies against thyroglobulin (SREAT, 63.3%; sCJD, 39.6%; p = 0.020) and TSH-receptor-antibodies (SREAT, 14.3%; sCJD, 2.1%; p = 0.059). Epileptic seizures were observed more frequently in the SREAT group (SREAT, 44.9%; sCJD, 12.5%; p < 0.001). Dementia (SREAT, 61.2%; sCJD, 100%; p < 0.001), ataxia (SREAT, 44.9%; sCJD, 89.6%; p < 0.001), visual impairment (SREAT, 22.4%; sCJD, 50%; p = 0.005), extrapyramidal disorder (SREAT, 32.7%; sCJD, 60.4%; p = 0.006), myoclonus (SREAT, 38.8%; sCJD, 81.3%; p < 0.001) and akinetic mutism (SREAT, 6.1%; sCJD, 37.5%; p < 0.001) were observed more frequently in sCJD. Cerebrospinal fluid (CSF) pleocytosis was observed more frequently in SREAT patients (SREAT, 33.3%; sCJD, 6.4%; p = 0.001), as was a pathological increase in protein concentration (SREAT, 68.8%; sCJD, 36.2%; p = 0.001).
CONCLUSIONS
In a case of encephalopathy, the diagnosis of SREAT should also be considered in suspected cases of CJD so as to be able to start corticosteroid treatment quickly.
Topics: Humans; Thyroiditis, Autoimmune; Creutzfeldt-Jakob Syndrome; Diagnosis, Differential; Retrospective Studies; Brain Diseases; Hashimoto Disease; Steroids
PubMed: 36727548
DOI: 10.5603/PJNNS.a2023.0005 -
Turkish Neurosurgery Aug 2020Telovelar and transvermian approaches for medulloblastoma excision have high complication and recurrence rates. This study aims to describe a novel surgical approach to...
AIM
Telovelar and transvermian approaches for medulloblastoma excision have high complication and recurrence rates. This study aims to describe a novel surgical approach to decrease such rates.
MATERIAL AND METHODS
A retrospective review was performed. The novel technique was performed in similar conditions for all patients. It involves early intra-operative identification of the superior part of the floor of the fourth ventricle, so that the inferior part of the tumour can be viewed directly and excised thoroughly. Importance was given to the pattern of tumour growth and CSF flow dynamics.
RESULTS
A total of 58 patients underwent this surgery between February-2006 and May-2016. Mean age was 13.2 years (Range - 6 months to 55 years). Follow-up ranged from 1 to 11 years. 49 patients (84.4%) who were under the age of 3 years were administered craniospinal radiation as well as chemotherapy, while 9 patients (15.6%) over the age of 3 years were administered only chemotherapy. Total excision could be performed in 50 cases (86.2%) and subtotal excision ( 90% excision) in 8 cases (13.8%). The tumour recurred in only 1 patient (1.72%). The complications included akinetic mutism (8.6%), meningitis (8.6%), 6th and 7th nerve paresis/palsy (5.17%), and chest infection (3.44%). Death occurred in 2 patients (3.44%), causes of death were unrelated to surgery.
CONCLUSION
This study highlights the possible benefits of this novel approach to medulloblastoma excision by decreasing recurrence and complication rates and increasing rates of total excision. However, studies with large cohorts need to be performed to evaluate its efficacy.
PubMed: 34169985
DOI: 10.5137/1019-5149.JTN.30670-20.3 -
The American Journal of Case Reports Mar 2023BACKGROUND Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal disease caused by the change of prion protein (PrP). Affected patients present with rapidly progressive...
BACKGROUND Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal disease caused by the change of prion protein (PrP). Affected patients present with rapidly progressive cognitive dysfunction, myoclonus, or akinetic mutism. Diagnosing the Heidenhain variant of sCJD, which initially causes various visual symptoms, can be particularly difficult. CASE REPORT A 72-year-old woman presented with a 2- to 3-month history of photophobia, blurring vision in both eyes. Seven days previously, she showed visual impairment of 20/2000 in both eyes. Left homonymous hemianopia and restricted downward movement of the left eye were observed with an intact pupillary light reflex and normal fundoscopy. On admission, her visual acuity was light perception. Cranial magnetic resonance imaging revealed no abnormality, and electroencephalography showed no periodic synchronous discharges. Cerebrospinal fluid examination on the sixth hospital day revealed tau and 14-3-3 protein with a positive result of real-time quaking-induced conversion. She thereafter developed myoclonus and akinetic mutism and died. Autopsy revealed thinning and spongiform change of the cerebral cortex of the right occipital lobe. Immunostaining showed synaptic-type deposits of abnormal PrP and hypertrophic astrocytes. Consequently, she was diagnosed with the Heidenhain variant of sCJD with both methionine/methionine type 1 and type 2 cortical form based on the western blot of cerebral tissue and PrP gene codon 129 polymorphism. CONCLUSIONS When a patient presents with various progressive visual symptoms, even without typical findings of electroencephalography or cranial magnetic resonance imaging, it is essential to suspect the Heidenhain variant of sCJD and perform appropriate cerebrospinal fluid tests.
Topics: Female; Humans; Aged; Creutzfeldt-Jakob Syndrome; Autopsy; Myoclonus; Akinetic Mutism; Brain
PubMed: 36905109
DOI: 10.12659/AJCR.938654 -
Scientific Reports Feb 2024After severe brain injury, zolpidem is known to cause spectacular, often short-lived, restorations of brain functions in a small subgroup of patients. Previously, we...
After severe brain injury, zolpidem is known to cause spectacular, often short-lived, restorations of brain functions in a small subgroup of patients. Previously, we showed that these zolpidem-induced neurological recoveries can be paralleled by significant changes in functional connectivity throughout the brain. Deep brain stimulation (DBS) is a neurosurgical intervention known to modulate functional connectivity in a wide variety of neurological disorders. In this study, we used DBS to restore arousal and motivation in a zolpidem-responsive patient with severe brain injury and a concomitant disorder of diminished motivation, more than 10 years after surviving hypoxic ischemia. We found that DBS of the central thalamus, targeted at the centromedian-parafascicular complex, immediately restored arousal and was able to transition the patient from a state of deep sleep to full wakefulness. Moreover, DBS was associated with temporary restoration of communication and ability to walk and eat in an otherwise wheelchair-bound and mute patient. With the use of magnetoencephalography (MEG), we revealed that DBS was generally associated with a marked decrease in aberrantly high levels of functional connectivity throughout the brain, mimicking the effects of zolpidem. These results imply that 'pathological hyperconnectivity' after severe brain injury can be associated with reduced arousal and behavioral performance and that DBS is able to modulate connectivity towards a 'healthier baseline' with lower synchronization, and, can restore functional brain networks long after severe brain injury. The presence of hyperconnectivity after brain injury may be a possible future marker for a patient's responsiveness for restorative interventions, such as DBS, and suggests that lower degrees of overall brain synchronization may be conducive to cognition and behavioral responsiveness.
Topics: Humans; Deep Brain Stimulation; Zolpidem; Akinetic Mutism; Motivation; Thalamus; Arousal; Brain Injuries
PubMed: 38316863
DOI: 10.1038/s41598-024-52267-1 -
BMJ Case Reports Mar 2019Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disease that can mimic other neurological disorders. We present a case of sCJD in a 64-year-old man...
Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disease that can mimic other neurological disorders. We present a case of sCJD in a 64-year-old man that presented with corticobasal syndrome and survived for 3 years. He presented initially with dementia, hemiparkinsonism and alien limb phenomenon and was diagnosed with corticobasal degeneration, ultimately progressing to immobility and akinetic mutism. With a normal MRI 1 year before onset, his neuroimaging 1 year later revealed abnormal DaTscan, cortical and hippocampal atrophy with ventricular dilatation on MRI, and diffusion-weighted cortical ribboning and thalamic hyperintensity. Postmortem, the patient's brain was collected by the Parkinson's UK Tissue Bank. Prion protein immunohistochemistry revealed widespread diffuse microvacuolar staining without kuru-type plaques. Hyperphosphorylated tau was only found in the entorhinal cortex and hippocampus. This case highlights the clinical heterogeneity of sCJD presentation and the important inclusion of CJD in the differential diagnosis of atypical presentations of neurodegenerative disease.
Topics: Autopsy; Basal Ganglia Diseases; Brain; Creutzfeldt-Jakob Syndrome; Dementia; Diagnosis, Differential; Diffusion Magnetic Resonance Imaging; Fatal Outcome; Humans; Male; Middle Aged; Neuroimaging; Prion Proteins; Rare Diseases; Spinocerebellar Degenerations; Thalamus
PubMed: 30850568
DOI: 10.1136/bcr-2018-228305