Neurocase最新文献

Cenobamate (CNB) is one of the newer antiseizure medications for the treatment of focal-onset seizures. The cognitive profile of CNB is not yet known in detail. Here we present the case of an 18-year-old male high school student with epilepsy who received adjunctive CNB. Under 400 mg/d of CNB in combination with lamotrigine, a neuropsychological reassessment revealed a severe deterioration of the formerly normal episodic memory functions, while executive functions remained unaffected. The de novo memory deficit had already led to a collapse in school performance and he unexpectedly failed to obtain the general qualification for university entrance. Given the beneficial effect of CNB on seizure control, a dose reduction of CNB to 200 mg/d and introduction of valproic acid was performed. This led to a full recovery of objective memory performance. To our knowledge this is the very first report of a dose-dependent, selective and severe decline in episodic memory performance under CNB, potentially impeding academic achievement. The findings call for a cognitive monitoring of CNB which also addresses episodic memory in addition to executive functions. Systematic studies on episodic memory upon CNB treatment would help to appreciate the scope of this apparently reversible adverse effect.

Herein, we report a 62-year-old female patient with Multiple system atrophy (MSA) at whom the sympathetic skin responses (SSRs) were absent at initial investigations. However, the levodopa therapy provided normalization of SSRs and moderately improvement in orthostatic hypotension-related symptoms. Based on this rare illustration, we discuss the possible mechanisms underlying the pathophysiology of autonomic dysfunction in MSA. We remark on the need for future clinical and experimental studies in this field.

Disorganized behavior is a primary sign of schizophrenia. Yet it is not unique to schizophrenia. Recently, there has been a growing understanding that endogenous mental disorders could be a prodromal stage of neurodegenerative dementia. As a result, the connection between endogenous mental disorders and dementia has become a subject of significant interest. In the present study, a 49-year-old female with schizophrenia since the age of 17 was diagnosed with early-onset Alzheimer's disease after a detailed examination with PET and cerebrospinal fluid, despite suspicion of organic disease due to progressive forgetfulness, abnormal behavior and delusions. Schizophrenia is not the only disorder in which disorganized behavior is seen. When such a clinical phenomenon develops, other possible causes should be considered. Dementia is one of the most important of these causes. In a psychiatric disorder with disorganized behavior, other possible causes, especially dementia, should be considered.

Susac syndrome is a rare immune-mediated endotheliopathy affecting the microvasculature. It presents three main symptoms: encephalopathy, branch retinal artery occlusions, and hearing loss . Here we present a new case report focusing on the evolution of the cognitive profile. The patient underwent two neuropsychological examinations. The first, one month after the onset of the symptomatology, highlighted a prevalent involvement of verbal executive functions. The second, conducted six months later, revealed a global improvement in most previously deficient areas, although with the persistence of a difficulty in cognitive estimation. . This case illustrates the importance of a comprehensive analysis of patients with Susac syndrome to appreciate the whole range of cognitive deficits and reliably evaluate symptom evolution.

Emotional processing has been attracting increased attention. We herein present three patients with intractable epilepsy in whom emotional responses were elicited by electrical cortical stimulation. Negative feelings were produced in all patients; however, the content of each differed. In patient 1, the stimulation of the right anterior cingulate gyrus elicited unpleasant thoughts. In patient 2, the stimulation of the right posterior cingulate gyrus evoked anxiety. In patient 3, the stimulation of the right prefrontal cortex induced anxiety associated with a somatic sensation. Emotional responses comprise various aspects and the cortical areas responsible vary depending on each emotional aspect.

Although handwriting impairment is a frequent sign of Parkinson's disease (PD), its significance in the evaluation processes of these patients may be overlooked among physicians. Therefore, we would like to report an illustrative patient who presented with isolated micrographia initially; but received the diagnosis of PD in the follow-up.

Krabbe disease (KD) is classed as the lysosomal storage disease with mutations in the galactosylceramidase (GALC) gene, and commonly showed as autosomal recessive pattern with 30-kb deletion in infantile subtype. In this case, we report a 39-years adult-onset KD (AOKD) patient with multiple sclerosis-like symptoms and neuroimaging changes. She carries the heterozygous mutations in GALC included a missense mutation of c.1901T>C from her mother, and a splicing mutation of c.908+5G>A from her father. The splicing mutations in KD are reviewed and confirmed that c.908+5G>A is a novel splicing mutation in AOKD.

L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare autosomal recessive disease characterized by elevated levels of hydroxyglutaric acid in the body fluids and brain with abnormal white matter. We present two siblings with psychomotor retardation and quadriparesis. Their brain imaging showed diffuse bilateral symmetrical involvement of the cerebral cortex, white matter, basal ganglia and cerebellum. The whole exome sequence studies revealed a homozygous likely pathogenic variant on chromosome 14q22.1 (NM_024884.2: c.178G > A; pGly60Arg) in the gene encoding for L-2-hydroxyglutarate dehydrogenase (L2HGDH) (OMIM #236792). Therefore, using the L2HGDH gene study is beneficial for L2HGA diagnosis.

KCNB1-associated encephalopathy is characterized by intellectual disability (ID), autism spectrum disorder and epilepsy. Specific treatments are still lacking. We describe a 12-year-old boy with severe ID and treatment-resistant seizures due to a pathogenic KCNB1 variant. His EEG showed a CSWS pattern. Aged 11, he started treatment with highly purified cannabidiol (CBD) and has been seizure free for 18 months, with significant EEG and social skills improvements. This suggests CBD may benefit CSWS, likely due to its anti-inflammatory properties. Some preclinical studies also indicate CBDs interact with voltage-gated channels, leading us to speculate its possible role for treating KCNB1 related encephalopathy.

A 70-year-old right-handed housewife suffered an acute loss of taste, an unpleasant change in the taste of foods and liquids, and a strong aversion to all kinds of food due to a small lacune in the right dorsomedial pontine tegmentum. Eating became so unpleasant that she lost 7 kg in three weeks. Olfaction and the sensibility of the tongue were spared. The right medial longitudinal fascicle, the central tegmental tract, or both, were injured by the tegmental lesion. A discrete right-sided lesion in the upper pontine tegmentum may cause a reversible syndrome consisting of bilateral hypogeusia which is more severe ipsilaterally.