RESUMEN

Background: Delayed post-hypoxic leukoencephalopathy (DPHL) is characterized by a biphasic clinical course, with complete recovery from coma to a fully conscious state lasting one to four weeks (lucid interval), followed by abrupt neurological deterioration as an indirect consequence of hypoxic events like carbon monoxide poisoning and narcotic drug overdose. To our best knowledge, there are no documented cases in literature of choreoathetosis and dementia following poppy-induced DPHL with 14-3-3 protein in cerebrospinal fluid (CSF). Case presentation: We report the case of a 70-year-old female who underwent cardiopulmonary resuscitation (CPR) due to overdose of homemade refined opium poppy paste two weeks prior to presentation. She presented a progressive cognitive decline, along with the development of apraxia and choreic movement affecting her tongue and bilateral upper and lower extremities. During the symptomatic phase, brain magnetic resonance imaging (MRI) showed bilateral symmetrical hyperintense signals mostly in central frontal, temporal, and parieto-occipital lobes in the diffusion weighted imaging (DWI) and fluid-attenuated inversion recovery (FLAIR) sequences which are the characteristic findings of DPHL. CSF routine analysis, as well as toxicology screening, autoimmune and paraneoplastic encephalitis panels were negative, but the presence of 14-3-3 protein in the CSF was detected. With steroid therapy, hyperbaric oxygen therapy and symptomatic treatment, she experienced gradual improvement in cognition, motivation, and psychomotor function. Conclusion: DPHL represents a distinct form of encephalopathy characterized by unique clinical course and imaging features. It is the first report of DPHL with positive 14-3-3 protein in CSF. The potential of 14-3-3 protein as a biomarker for diagnosing DPHL and its ability to predict disease severity and prognosis warrants further research.

RESUMEN

The glutamate ionotropic receptor NMDA (N-methyl-D-aspartate) type subunit 2A gene (GRIN2A) encodes the GluN2A subunit of NMDA receptors, which are essential for synaptic plasticity and memory consolidation. Mutations in GRIN2A can disrupt these processes, often affecting the pediatric population and causing various neurological disorders characterized by epilepsy, intellectual disability, and aphasia, among other neuropsychiatric findings. We report an unusual presentation of adult-onset GRIN2A mutation-associated progressive limbic encephalopathy (LE), characterized by rapidly progressive cortical atrophy, seizures, aphasia, and neuropsychiatric abnormalities, which ultimately led to the patient's sudden demise. Further research into GRIN2A mutations will improve our understanding of such presentations, guiding enhancements in diagnostic methods and therapeutic approaches.

RESUMEN

Epilepsy, characterized by recurrent seizures, impacts 70-80% of patients, leading to cognitive deficits. The intricate relationship between seizure control and cognitive impairment remains complex. Epileptic encephalopathy (EE), an intensified form often rooted in genetic factors, is detectable through next-generation sequencing, aiding in precise diagnoses, family counseling, and potential treatment strategies. We present a case involving two sisters with refractory generalized seizures evolving into dysarthria, dysphagia, ataxia, and cognitive decline. Despite normal physical exams, abnormal electroencephalogram results consistent with epilepsy were noted. Whole Exome Sequencing identified heterozygous variants in the alanyl-tRNA synthetase (AARS) and Calcium Voltage-Gated Channel Subunit Alpha 1 (CACNA1A) genes. The AARS variant (c.C2083T, p.R695*) was maternal, while the CACNA1A variant (c.G7400C, p.R2467P) was paternal. Patients A and B exhibited a unique blend of neurological and psychiatric conditions, distinct from common disorders that begin adolescence, like Juvenile Myoclonic Epilepsy. Whole Exome Sequencing uncovered an AARS gene and CACNA1A gene, linked to various autosomal dominant phenotypes. Presence in both parents, coupled with familial reports of migraines and seizures, provides insight into accelerated symptom progression. This study underscores the importance of genetic testing in decoding complex phenotypes and emphasizes the value of documenting family history for anticipating related symptoms and future health risks.

RESUMEN

Severe cognitive dysfunction is a frequent feature of multiple sclerosis (MS), normally associated with later stages of the disease in adult population. Nevertheless, progressive cognitive and neuropsychiatric disturbances might rarely be the presenting and predominant symptom. In order to better characterize this peculiar phenotype of MS, we report on the case of a 38-year-old man who referred to our hospital with the suspect of hereditary leukodystrophy after 5 years of behavioral and mood abnormalities, global cognitive dysfunction, clumsiness, and very mild pyramidal and cerebellar signs. Brain and spinal magnetic resonance imaging (MRI) combined with cerebrospinal fluid (CSF) analysis prompted the diagnosis of MS.

Asunto(s)

Disfunción Cognitiva/diagnóstico , Trastornos del Humor/diagnóstico , Esclerosis Múltiple Crónica Progresiva/diagnóstico , Adulto , Disfunción Cognitiva/etiología , Humanos , Masculino , Trastornos del Humor/etiología , Esclerosis Múltiple Crónica Progresiva/complicaciones

RESUMEN

Patients with dementia often have neuropsychiatric symptoms. The objective of this study was to evaluate the relationship between neuropsychiatric symptoms and progressive cognitive decline by assessing cognitive impairment, depressive symptoms, and aggressive behavior in a sample of elderly subjects. The study sample consisted of 201 subjects admitted to nursing homes. For the purpose of the present study each subject was evaluated using the Mini-Mental State Examination, the Geriatric Depression Scale, and the Modified Overt Aggression Scale. The results show that aggressive behavior and depressive symptoms are associated with progressive cognitive decline in elderly subjects. Early assessment of these conditions can promote rational therapeutic strategies that may improve the quality of life and delay institutionalization for elderly patients.