Neurocase最新文献

Fahr's disease (FD) is a rare neurological disorder that causes abnormal, symmetrical, and bilateral calcification of the basal ganglia and other brain regions. Psychiatric symptoms are one of the many manifestations that guide FD diagnosis, with most usually occurring by ages 30-60 years. Herein, we report an incidental finding of bilateral basal ganglia calcification in a 14-year-old male teenager presenting psychotic characteristics, including schizophreniform and manic-like symptoms, who was initially investigated for mycoplasma infection. No similar study has been reported so far in the literature. Case report and literature review. Computed tomography (CT) revealed a calcification deposit in bilateral basal ganglia, thalamus, frontal cortex, and semioval center, magnetic resonance imaging detected a T1-weighted image and fluid-attenuated inversion recovery hyperintense signal abnormalities in the bilateral basal ganglia and thalami. Furthermore, the laboratory tests revealed no obvious abnormality except for hypocalcemia and low vitamin D levels with an elevated uric acid level. The gene test results confirmed the diagnosis of familial FD, which was caused by a mutation in the SLC20A2 gene (NM_001257180.2:c.551delC/p.Pro184Glnfs *8). The patient was prescribed oral medication, including olanzapine, sodium valproate extended-release tablets, lorazepam, and vitamin D drops. Additionally, individualized administration with therapeutic drug monitoring was recommended for the patient to enable dose adjustments. The patient experienced no new psychotic symptoms within the 6-month follow-up after discharge. Bilateral basal ganglia calcification may be a contributing factor to the sudden onset of psychiatric symptoms in children and adolescents.

Giggling incontinence(GI), although uncommon, can have a profound effect on a patient's quality of life, especially in adolescent females. A case study involving a 4-year-old girl who developed urinary incontinence symptoms following a traumatic brain injury from a motor vehicle accident and subsequent loss of her parents highlights the challenges in managing this condition after 4 months. Despite conventional treatments such as pelvic floor exercises and cognitive therapy, the patient's symptoms persisted. Unexpectedly, during facial expression recognition training, the guardian reported a notable improvement in the patient's symptoms. Following 45 days of specialized training in facial expression recognition, the patient experienced a complete resolution of GI symptoms. The initial objective of the intervention was to mitigate impairments in facial expression recognition, a social deficit that can have deleterious effects on development. However, the observed correlation between GI symptoms and regulation of brain areas was evident, compounded by the patient's concomitant frontoparietal brain injury and parental loss, which may have contributed to both GI symptoms and facial expression recognition impairments. This case report provides new insights into the intervention of GI symptoms and common emotional expression recognition disorders in the mental health field.

Lewy body dementia (LBD), the second most common degenerative dementia after Alzheimer's disease, is frequently associated with neuropsychiatric symptoms such as depression, anxiety, and apathy. These symptoms may precede cognitive decline, often resulting in misdiagnosis and inappropriate treatment. Electroconvulsive therapy (ECT) has emerged as a promising option for treatment-resistant depression in LBD. This report describes a 68-year-old female patient with LBD who received multiple ECT sessions for persistent severe depression and suicidal ideation. ECT led to marked symptom improvement across several hospitalizations. This case underscores the diagnostic and therapeutic challenges of neuropsychiatric symptoms in LBD and highlights ECT as a potential alternative when pharmacotherapy is inadequate. Early identification of LBD in patients with late-onset depression is essential to guide individualized treatment strategies.

Atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions (aFTLD-U) is a rare subtype of Frontotemporal Lobar Degeneration. aFTLD-U is reported with a typically young onset behavioral variant of frontotemporal dementia syndrome, more specifically with younger age, predominant hyperorality, obsessive-compulsive features, and severe caudate atrophy. Very few cases have been reported with prominent language impairment with no major behavioral features. We present another such rare case of aFTLD-U presenting with prominent language impairment adding to the phenotypic spectrum, with language deficits observed primarily in spoken language seen in apraxia of speech associated with non-fluent primary progressive aphasia.

This study presents a neuropsychological evaluation of a unique case of prosopagnosia (patient EP) with atypical lesion patterns, characterized by intact face-selective nodes but significant damage to the Vertical Occipital Fasciculus (VOF). Given the presumed interruption of ventral-parietal connectivity, we focused on assessing the potential presence of simultanagnosia and its potential relationship to his face recognition deficits. Our neuropsychological battery included tests of global and local processing, scene perception, and face recognition. Results revealed intact global processing abilities and no evidence of simultanagnosia, despite the patient's prosopagnosia. These findings suggest that EP's face recognition impairment is likely attributable to disrupted connectivity within the face processing network rather than a general deficit in global/holistic processing. This case highlights the importance of comprehensive neuropsychological assessments in atypical presentations of prosopagnosia and contributes to our understanding of the complex relationship between white matter integrity and face recognition abilities.

Hyperthymesia has been described in individuals, who show superior retrieval capacities in autobiographical memory. This condition differs from superior memory, which refers to the supranormal ability to acquire and recall new information but not autobiographical information. The process responsible for hyperthymesia is still largely unknown and most knowledge come from case studies, showing individual with impressive superior capacities to retrieve autobiographical memories. Here, we describe a case of hyperthymesia with an objective as well as a subjective assessment of mental time travel abilities in different temporal distances. This is the first observation of hyperthymesia with a full evaluation of mental time travel capacities in different temporal distances, encompassing the individual capacity to retrieve personal events from the personal past as well as to foresee personal events in the future. This observation could pave the way to further research on superior autobiographical abilities, studied in the context of personal temporality.

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.

This case series elucidates pathological signs for diagnosis in two patients with Dementia. The first case highlights the term 'Smartphone sign', a novel psychopathology uncovered based on the existing 'TV sign', a rare type of delusional misidentification syndrome (DMS). The second case had symptoms consistent with the 'TV sign'. The possible underlying cause of these signs was hypothesized based on psychopathology, brain region, sensory system, cognition, and environmental factors. Moreover, the treatment outcome in terms of cognition and behavior on low doses of Risperidone and Escitalopram shows promising results and paves the way for the treatment of other DMS.

Absolute pitch (AP) is the ability to identify the pitch of isolated tones without reference to an external pitch. A 21-year-old semi-professional musician with a previous ability for AP developed a left-hemispheric cerebral hemorrhage due to an arteriovenous malformation (AVM). One month after the hemorrhage, she underwent surgery to treat the AVM, resulting in the resolution of her aphasia and right upper limb clumsiness. However, her AP ability was lost. Before the hemorrhage, she could dictate complex music that she listened to, but afterward, she could no longer identify even a single tone. Neuropsychological assessments revealed a decreased retention span for auditory information, slight impairment of environmental sound and speech processing, and difficulty in understanding the auditory presentation of numbers with more than four digits. Neuromusicological assessments with an established battery of tests revealed impairments of chord and timbre perception, alongside the loss of AP ability. Brain computed tomography conducted 9 months after the hemorrhage revealed low-density areas in the middle longitudinal fasciculus, a region associated with language and auditory processing, including AP perception. To our knowledge, this is the first reported case of a patient with AP loss because of a focal brain lesion.

Mills' syndrome is a rare motor neuron disease characterized by progressive upper motor neuron dysfunction. As the disease advances, there may be manifestations of bulbar involvement, such as dysarthria, dysphagia, and possibly pseudobulbar affect and progression to the contralateral side may occur lately in patients. Since it was first described by Mills in 1900, there are few cases of Mills' syndrome that have been reported in the literature. Here, we present a case, diagnosed as Mills' syndrome, with 5 years of gradually progressive weakness and stiffness in her left-side limbs with recently added difficulties in speech. Neurological examination revealed bilateral asymmetrical upper motor neuron signs, including increased tone, brisk reflexes, and muscle weakness with dysarthria and dysphagia. There was no sensory involvement as well as sphincter dysfunction and her cognition was contact.