ABSTRACT
Resumen: Introducción: La leucoencefalopatía con sustancia blanca evanescente es una de las leucodistrofias más frecuentes. Generalmente inicia en la infancia y presenta un patrón de herencia autosómica recesiva. El 90% de los casos manifiesta mutaciones en uno de los genes que codifican para las cinco subunidades del factor de iniciación eucariótica 2 (EIF2B5). El diagnóstico se realiza por las manifestaciones clínicas, hallazgos en la resonancia magnética cerebral y estudios moleculares confirmatorios. Caso clínico: Paciente masculino de 13 meses con neurodesarrollo previo normal. Antecedente de internamiento por vómito, hipertermia, irritabilidad y rechazo a la vía oral de 15 días de evolución. Ante la exploración presentó perímetro cefálico y pares craneales normales. Se encontró hipotónico, con reflejos incrementados, sin datos meníngeos ni de cráneo hipertensivo. La tomografía de cráneo mostró hipodensidad generalizada de la sustancia blanca. Egresó sin recuperar deambulación. A los 15 días presentó somnolencia y crisis convulsivas focales después de traumatismo craneoencefálico. En la resonancia magnética se observó hipointensidad generalizada de sustancia blanca. Ante la sospecha de leucoencefalopatía con sustancia blanca evanescente, se solicitó la secuenciación del gen EIF2B5, que reportó mutación homocigota c.318A>T en el exón 2. El paciente requirió múltiples hospitalizaciones por hipertermia y descontrol de crisis convulsivas. Posteriormente mostró deterioro cognitivo, motor y pérdida de la agudeza visual. Falleció a los 6 años por neumonía severa. Conclusiones: Este caso contribuye a conocer el espectro de mutaciones que se presenta en pacientes mexicanos y permite ampliar el fenotipo asociado con esta mutación.
Abstract: Background: Vanishing white matter disease is one of the most frequent leukodystrophies in childhood with an autosomal recessive inheritance. A mutation in one of the genes encoding the five subunits of the eukaryotic initiation factor 2 (EIF2B5) is present in 90% of the cases. The diagnosis can be accomplished by the clinical and neuroradiological findings and molecular tests. Case report: We describe a thirteen-month-old male with previous normal neurodevelopment, who was hospitalized for vomiting, hyperthermia and irritability. On examination, cephalic perimeter and cranial pairs were normal. Hypotonia, increased muscle stretching reflexes, generalized white matter hypodensity on cranial tomography were found. Fifteen days after discharge, he suffered minor head trauma presenting drowsiness and focal seizures. Magnetic resonance showed generalized hypointensity of white matter. Vanishing white matter disease was suspected, and confirmed by sequencing of the EIF2B5 gene, revealing a homozygous c.318A> T mutation in exon 2. Subsequently, visual acuity was lost and cognitive and motor deterioration was evident. The patient died at six years of age due to severe pneumonia. Conclusions: This case contributes to the knowledge of the mutational spectrum present in Mexican patients and allows to extend the phenotype associated to this mutation.
Subject(s)
Child , Child, Preschool , Humans , Infant , Male , Eukaryotic Initiation Factor-2B/genetics , Leukoencephalopathies/diagnosis , Phenotype , Magnetic Resonance Imaging/methods , Tomography, X-Ray Computed/methods , Exons , Fatal Outcome , Leukoencephalopathies/physiopathology , Leukoencephalopathies/genetics , MutationABSTRACT
Vascular mild cognitive impairment (VaMCI) represents an early symptomatic stage of vascular cognitive impairment and might be associated to fronto-executive dysfunction. Methods Twenty-six individuals (age: 73.11±7.90 years; 65.4% female; schooling: 9.84±3.61 years) were selected through neuropsychological assessment and neuroimaging. Clinical and neuroimaging data of VaMCI individuals (n=15) were compared to normal controls (NC, n=11) and correlated with Fazekas scale. Results VaMCI performed significantly worse than NC in Trail-Making Test (TMT) B, errors in TMT B, difference TMT B-A and Cambridge Cognitive Examination (CAMCOG) final scores. Correlations were found among scores in modified Fazekas scale and performances in TMT B (time to complete and errors), difference TMT B-A and CAMCOG total score. Conclusion Extension of white matter hyperintensities might be correlated to poorer global cognition and impairments in a set of fronto-executive functions, such as cognitive speed, set shifting and inhibitory control in VaMCI. .
Comprometimento cognitivo leve vascular (CCLV) representa um estágio sintomático precoce do comprometimento cognitivo vascular e associa-se à disfunção fronto-executiva. Métodos Vinte e seis indivíduos (idade: 73,11±7,90 anos; 65,4% mulheres; escolaridade: 9,84±3,61 anos) foram selecionados por meio de avaliação cognitiva e neuroimagem. Os dados clínicos e de neuroimagem do grupo CCLV (n=15) foram comparados com controles normais (CN; n=11) e correlacionados com a escala de Fazekas. Resultados CCLV apresentaram piores desempenhos que CN no Trail-Making Test (TMT) B, erros no TMT B, diferença TMT B-A e pontuação final do Cambridge Cognitive Examination (CAMCOG). Verificaram-se correlações entre escala de Fazekas e desempenhos no TMT B (tempo total e erros), diferença TMT B-A e a pontuação final do CAMCOG. Conclusão A extensão das hiper-intensidades de substância branca, no grupo CCLV, correlacionou-se com pior desempenho cognitivo global e com comprometimento em um grupo de funções fronto-executivas, como velocidade e alternância cognitiva e controle inibitório. .
Subject(s)
Aged , Aged, 80 and over , Female , Humans , Male , Cognition/physiology , Executive Function/physiology , Leukoencephalopathies/physiopathology , Cognitive Dysfunction/physiopathology , Case-Control Studies , Cross-Sectional Studies , Leukoencephalopathies/diagnosis , Magnetic Resonance Imaging , Cognitive Dysfunction/diagnosis , Neuroimaging/methods , Statistics, Nonparametric , Trail Making TestABSTRACT
OBJECTIVE: In order to compare white matter syndrome of neuropsychiatric systemic lupus erythematosus (NPSLE) and multiple sclerosis (MS), an assessment on demographic, medical history, and clinical data was proposed. METHODS: Sixty-four patients with NPSLE and 178 with MS answered a questionnaire and were evaluated regarding functional system, expanded disability status scale (EDSS), Beck depression inventory (BDI), and Beck anxiety inventory (BAI). RESULTS: The prevalence of autoimmune diseases and altered consciousness was similar in both groups, however it was higher than in the general population. Systemic signs and symptoms occurred from 2.9 to 61.9% of the MS cases, while neurological signs and symptoms occurred in 9.4 to 76.4% of the NPSLE ones. The motor, visual, and mental systems were the most affected in both diseases. The BDI in NPSLE had higher scores and the BAI in MS. CONCLUSIONS: The functional impairments in NPSLE were similar to those of MS, although greater impairment of the functional systems of cerebellar, sensitivity, and sphincters occurred in MS cases, and greater symptoms of depression, anxiety, and headache also occurred in it.
OBJETIVO: Com a finalidade de comparar a síndrome de acometimento da substância branca do lúpus neuropsiquiátrico (LESNP) e a esclerose múltipla (EM), foi proposta uma avaliação demográfica, da história médica e do exame clínico. MÉTODOS: Sessenta e quatro pacientes com LESNP e 178 com EM responderam a um questionário para avaliar o sistema funcional, a expanded disability status scale (EDSS), o Beck depression inventory (BDI) e o Beck anxiety inventory (BAI). RESULTADOS: A prevalência de doenças autoimunes e consciência alterada foi semelhante em ambos os grupos, mas foi superior comparada àquela da população geral. Sinais e sintomas sistêmicos ocorreram em 2,9 a 61,9% dos casos de EM, enquanto sinais e sintomas neurológicos foram encontrados de 9,4 a 76,4% na LESNP. Os sistemas motor, visual e mental foram os mais afetados nas duas doenças. O BDI foi superior em LESNP e o BAI na EM. CONCLUSÕES: As alterações funcionais em pacientes com LESNP foram similares às encontradas na EM, embora tenha ocorrido maior incapacidade dos sistemas funcionais cerebelar, de sensibilidade e dos esfíncteres na EM, sintomas depressivos, de ansiedade e cefaleia, também foram superiores.