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Introducción: En el curso del envejecimiento es conocida la existencia de un patrón complejo de cambios estructurales cerebrales, conductuales y cognitivos, en ocasiones relacionados con enfermedades neurológicas y psiquiátricas. Objetivo: Determinar la posible relación de causalidad de la atrofia cerebral en la aparición del deterioro cognitivo en el curso del envejecimiento normal. Métodos: Se desarrolló un estudio retrospectivo, transversal, descriptivo y observacional. El universo estuvo conformado por el total de los pacientes de ambos sexos con edades comprendidas entre 35-74 años de edad, con indicaciones previas de tomografía computarizada de cráneo y cuyos resultados fueron informados con signos de atrofia cerebral, cuya cifra ascendió a 733. Resultados: El grupo de edad que predomino fue el de 45-54 años (35,3 por ciento), así como las pacientes del sexo femenino (66,3 por ciento). El 27,7 por ciento tenía como nivel de escolaridad el técnico medio superior y 36,2 por ciento fueron pacientes amas de casa. El 99,7 por ciento fueron diestros. Un total de 368 voluntarios presentaron deterioro cognitivo y 365 sujetos no evidenciaron declive en las funciones exploradas. Las funciones de atención y cálculo y retención verbal a corto plazo fueron las que se vieron más afectadas, seguidas de orientación espacial y memoria verbal de fijación. Conclusiones: No se logró establecer una relación de causalidad significativa entre el diagnóstico radiológico de atrofia cerebral y la presencia de deterioro cognitivo(AU)

Introduction: In the course of aging, the existence of a complex pattern of behavioral, cognitive and cerebral structural changes is known, sometimes related to neurological and psychiatric diseases. Objective: To determine the possible causal relationship of cerebral atrophy with the onset of cognitive impairment in the course of normal aging. Methods: A retrospective, cross-sectional, descriptive and observational study was carried out. The study universe consisted of all patients of both sexes aged 35-74 years, with previous indications for cranial computed tomography and whose results were reported with signs of cerebral atrophy, which numbered 733. Results: The predominant age group was 45-54 years old (35.3percent), as well as female patients (66.3percent). The educational level of 27.7percent of the patients was technical high school and 36.2percent were housewife patients. A total of 99.7percent were right-handed. A total of 368 volunteers showed cognitive impairment and 365 subjects showed no decline in the tested functions. The functions of attention and calculation, as well as short-term verbal retention, were the most affected, followed by spatial orientation and speech retention memory. Conclusions: No significant causal relationship was established between the radiological diagnosis of cerebral atrophy and the presence of cognitive impairment(AU)

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Mucopolisacaridosis es una rara enfermedad que afecta al metabolismo de los mucopolisacaridos debida a la ausencia o deficiencia de las enzimas encargadas de su síntesis lo que produce depósitos de aminoglucósidos en casi todos los tejidos del organismo. De acuerdo a la enzima faltante se clasifican los distintos tipos de la enfermedad, siendo más frecuente el Tipo I con sus tres variantes: Hurler, Hurler-Sheie y Sheie de distinta gravedad y tratamiento. Al nacimiento el niño no presenta síntomas, éstos van apareciendo a partir del año de vida: retardo físico y mental, múltiples deformidades esqueléticas, hepatoesplenomegalia, sordera, opacidades corneanas, entre otras. La intervención neuroquirúrgica en esta entidad es en dos patologías: la hidrocefalia, que al no presentar los signos clásicos de hipertensión endocraneana puede ser confundida con atrofia y la compresión medular cervical por los depósitos de mucopolisacáridos en vértebras, ligamentos y leptomeninges.

Mucopolysaccharidosis is a rare illness that involves the metabolism of mucopolysaccharides, that due to the absence or deficiency of corresponding enzymes, accumulate in almost all the tissues of the body. According to which enzyme is missing, different types of the disease have been identified; the most frequent being Type I with its three variants: Hurler, Hurler-Sheie, and Sheie. Symptoms of this disorder progress and range from mental and physical retardation, multiple skeletal deformities, hepatosplenomegaly, deafness, and corneal opacities among others. Children affected usually appear normal at birth and the slowness in their development may be the first evidence of the disorder whose progression is downhill. Neurosurgical intervention occurs in two pathologies: hydrocephalus that does not show signs of intracranial hypertension and can be confused with atrophy, and cervical cord compression due to storage of mucopolysaccharides in vertebrae, ligaments, and leptomeninges.

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Resumen La enfermedad inflamatoria intestinal es un grupo de enfermedades caracterizadas por inflamación crónica gastrointestinal y en ocasiones con repercusión extraintestinal. Las manifestaciones neurológicas y psiquiátricas corresponden a menos de 3%. Se comunica el caso de una mujer joven con colitis ulcerativa y atrofia cerebral como inicio.

Abstract Inflammatory bowel disease is a group of diseases characterized by chronic gastrointestinal inflammation and occasionally with extraintestinal repercussion. The neurological and psychiatric manifestations correspond to less than 3%. This paper reports the case of a young woman with ulcerative colitis and cerebral atrophy as debut.

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The case of a term newborn diagnosed with Aicardi-Goutières syndrome, a rare encephalopathy in our environment, with Mendelian inheritance pattern, characterized by a set of nonspecific neurological symptoms associated with typical findings of intracerebral calcifications. The case is presented with diagnostic imaging, in addition to elevated levels of interferon alpha and cerebrospinal fluid lymphocytosis.

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BACKGROUND AND PURPOSE: Hyperargininemia (HA) is a rare autosomal recessive metabolic disorder and the neuroimaging features of this disease have seldom been reported. Hyperammonemic encephalopathy is uncommon in HA, and the clinical presentation of HA is distinct from other urea cycle disorders. This paper describes the brain MRI findings and a magnetic resonance spectroscopy (MRS) study of a series of Brazilian HA patients. METHODS: Brain MR images were obtained in eight male and two female patients with the classic HA phenotype. Six patients were evaluated twice. Single-voxel (1)H-MRS was also performed in six of the patients. RESULTS: Only 1 patient, with less severe neurological symptoms, had normal MRI images. A variable degree of cerebral atrophy was noted in the other patients, and 3 patients also presented mild symptoms of cerebellar atrophy. MRS indicated no metabolic abnormalities in any patient. CONCLUSIONS: We present the MRI and MRS findings of a large series of HA patients. Variable degrees of brain atrophy and mild cerebellar atrophy were observed, and these findings were not specific. No metabolic abnormality was observed using MRS in this series of patients.

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BACKGROUND AND PURPOSE: We hypothesized that the P-selectin (SELP) gene, localized to a region on chromosome 1q24, pleiotropically contributes to increased blood pressure and cerebral atrophy. We tested this hypothesis by performing genetic correlation analyses for 13 mRNA gene expression measures from P-selectin and 11 other genes located in 1q24 region and three magnetic resonance imaging derived indices of cerebral integrity. METHODS: The subject pool consisted of 369 (219F; aged 28-85, average = 47.1 ± 12.7 years) normally aging, community-dwelling members of large extended Mexican-American families. Genetic correlation analysis decomposed phenotypic correlation coefficients into genetic and environmental components among 13 leukocyte-based mRNA gene expressions and three whole-brain and regional measurements of cerebral integrity: cortical gray matter thickness, fractional anisotropy of cerebral white matter, and the volume of hyperintensive WM lesions. RESULTS: From the 13 gene expressions, significant phenotypic correlations were only found for the P- and L-selectin expression levels. Increases in P-selectin expression levels tracked with decline in cerebral integrity while the opposite trend was observed for L-selectin expression. The correlations for the P-selectin expression were driven by shared genetic factors, while the correlations with L-selectin expression were due to shared environmental effects. CONCLUSION: This study demonstrated that P-selectin expression shared a significant variance with measurements of cerebral integrity and posits elevated P-selectin expression levels as a potential risk factor of hypertension-related cerebral atrophy.