Neurocase最新文献

This case study explores the psychological and neuropsychological traits of a 55-year-old woman, D.R., who has Cotard's, believing her torso has dissolved and food bypasses her legs. Her delusion emerged amid major depressive disorder with psychotic features, following prodromal symptoms like body distortion and somatosensory abnormalities. A neuropsychological assessment during remission revealed low-level visual perceptual deficits in an otherwise intact cognitive profile. Subtle distortions in bodily signals and specific attribution styles were identified as vulnerability factors, suggesting that the delusion may emerge when already strained information processing systems are further challenged. This relates to models of delusion formation.

Catatonia may manifest as an independent entity or as a feature of a neuropsychiatric or medical illness. While electroconvulsive therapy (ECT) is the gold standard treatment for catatonia, it is typically administered if the patient's symptoms fail to respond to benzodiazepines. We describe the case of a 22-year-old male with Budd Chiari induced cirrhosis and no prior psychiatric history, who presented with symptoms of psychosis and hepatic encephalopathy, was treated in the ICU for multi-factorial delirium, developed symptoms of catatonia that failed to respond to lorazepam, ultimately requiring ECT with a favorable response. This report hopes to add to the literature by discussing potential etiologies of catatonia and by providing an illustrative example of the treatment of catatonia and its considerations in patients with hepatic impairment.

Background: VPS13D-related disorders are autosomal recessive genetic disorders characterized by movement disorders primarily including ataxia and spasticity, mainly accompanying developmental delay, seizures, and neuroimaging abnormalities. VPS13D-related spectrum disorder (VSD) may better reflect the characteristics of the disease. So far, the relationship of VPS13D genotype and phenotype of VSD has not been established.

Methods: We analyzed clinical data and collected DNA samples from a severe patient and his healthy parents. Whole exome sequencing was performed by next-generation sequencing. We presented a review of all cases with VSD to establish genotype-phenotype correlation.

Results: The patient had compound heterozygous mutations (c.9785T>C, p.L3262P; c.8687C>T, p.T2896M) in VPS13D gene, maternally and paternally inherited, respectively. The p.L3262P is a novel mutation. The individual presented with ataxia, dystonia, developmental delay, epilepsy and neuroimaging abnormalities, including bilateral caudate and putamen, cerebellum, and right temporal lobe, which are the first detailed imaging study reported in VSD to date. We first report that the patient has achieved significant improvement through active treatment. We first summarize genotype-phenotype correlation of VSD, highlighting that the severity of the phenotype is mainly due to the mutations affecting important domains of VPS13D protein or special severe missense mutations.

Conclusions: Neuroimaging analysis is helpful to the etiology study of VSD. Active treatment of VSD is still meaningful. Important VPS13D regions correlated with severe phenotype need to be further studied.

Developmental Topographical Disorientation (DTD) refers to impaired ability to create and consult mental maps in the absence of neurological abnormalities. We present the case study of I.S. to explore diagnostic opportunities for DTD. I.S. showed a very specific impairment in the ability to visualize spatial environments. Impaired performance was found for map use, map recognition and spatial working memory. The interview and observations showed I.S.'s quality of life and life choices have been severely affected by her navigation complaints, which have most likely been misdiagnosed repeatedly. We highlight the importance of awareness of DTD in clinicians and provide clinical recommendations.

Dentatorubral-Pallidoluysian Atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder caused by CAG repeat expansion in the ATN1 gene, characterized by diverse neurological and psychiatric symptoms. We report a 23-year-old patient with juvenile-onset seizures, cognitive decline, and ataxia, progressing to psychosis by age 31. Initial brain MRI showed minimal cerebellar atrophy, with prominent atrophy evident on follow-up imaging. Genetic testing confirmed DRPLA with expanded CAG repeats. Family history revealed anticipation, with varying presentations across generations. This case highlights DRPLA's complexity, diagnostic challenges due to symptom overlap, and the critical role of genetic testing in identifying this rare disorder.

Mutations in sequestosome 1 (SQSTM1) gene have been associated with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), frontotemporal dementia - ALS (FTD-ALS), and very recently, progressive supranuclear palsy (PSP), paget disease of bone (PDB), distal myopathy with rimmed vacuoles (DMRV), and neurodegenerative disorders in childhood. We present a case of right temporal variant of FTD (rtvFTD) with heterozygous mutation (c.823_824del(p.Ser275Phefs *17)) in SQSTM1 gene.

Inner dialogue and inner speech are normal systems of cerebral intrapersonal communication, crucial to self-awareness. Lesions affecting the cerebral network involved in these systems have been associated with the occurrence of Auditory Verbal Hallucinations (AVHs). These are regarde as a continuum phenomenon experienced by healthy, individuals, as well as those with psychiatric disorders. In this paper, two patients with left hemispheric lesions of different pathologies, vascular and tumor, respectively, who during their recovery of motor and sensory functions presented severe deregulation in their inner dialogue. In both cases, the damaged left dominant hemisphere adopted arrogant, demeaning, and abusive inner speech, while the right non-dominant side, which commands the rehabilitation of the lost functions, was subdued and quiet. This abusive unilateral inner dialogue was present until adequate recovery of independent functions was achieved for both patients.

A 71-year-old man attempted suicide by self-inflicting a cranial injury with a metallic chopstick following a family dispute. CT imaging showed penetration through the frontal sinus and lobe, yet the patient experienced no significant neurological deficits. Mini-craniotomy revealed a dural deficit without active bleeding. The favorable outcome is attributed to anatomical factors and the chopstick's limited penetrative ability. Successful recovery was achieved through minimal debridement and appropriate antibiotic therapy. This case highlights both the dangers of common objects and the importance of precise preoperative imaging and conservative surgical approaches in traumatic brain injuries.

Post-concussion Syndrome (PCS) describes persistent nonspecific neurological, cognitive and emotional symptoms following concussion. A young male presented to a sports concussion clinic with persistent symptoms post-injury. Neurocognitive testing found unexpected severe memory impairment. Blood tests for pituitary function returned low cortisol levels secondary to adrenal insufficiency (AI), which was immediately treated. Post-treatment and improvement of cortisol levels, repeat neuropsychology testing demonstrated reliable improvement in memory and processing speed test scores, commensurate with premorbid expectations. This case highlights the importance of a broad diagnostic approach to formulating unexpected persistent PCS symptoms, screening for AI in PCS cases, and completing neurocognitive testing.