RESUMO
A 40-year-old woman with renal dysfunction for 2 years was admitted to our hospital suffering from a headache. Family history revealed that her mother had a headache, renal dysfunction, and brain infarction in younger age. She had a retinal hemorrhage, a retinal atrophy, pitting edema in her lower extremities. Her neurological findings were unremarkable. Brain imaging showed multiple white matter lesions accompanied with calcifications and slightly enhancement. Kidney biopsy showed the thrombotic microangiopathy, Gene analysis demonstrated a causative mutation in three-prime repair exonuclease-1 (TREX1) gene, c.703_704insG (p.Val235GlyfsX6), thereby we diagnosed her as retinal vasculopathy with cerebral leukoencephalopathy (RVCL). RVCL is an autosomal dominant condition caused by C-terminal frame-shift mutation in TREX1. TREX1 protein is a major 3' to 5' DNA exonuclease, which are important in DNA repair. While TREX1 mutations identified in Aicardi-Goutieres syndrome patients lead to a reduction of enzyme activity, it is suggested that mutations in RVCL alter an intracellular location of TREX1 protein. There are no treatments based evidences in RVCL. We administered cilostazol to protect endothelial function, and her brain lesions and renal function have not become worse for 10 months after. It is necessary to consider RVCL associated with TREX1 mutation if a patient has retinal lesions, white matter lesions accompanied with calcifications, and multiple organ dysfunction.
Assuntos
Cérebro/patologia , Exodesoxirribonucleases/genética , Leucoencefalopatias/diagnóstico , Leucoencefalopatias/genética , Mutação , Fosfoproteínas/genética , Vasculite Retiniana/diagnóstico , Vasculite Retiniana/genética , Administração Oral , Adulto , Calcinose , Cérebro/diagnóstico por imagem , Cilostazol , Humanos , Leucoencefalopatias/complicações , Leucoencefalopatias/dietoterapia , Imageamento por Ressonância Magnética , Masculino , Neuroimagem , Vasculite Retiniana/complicações , Vasculite Retiniana/tratamento farmacológico , Tetrazóis/administração & dosagem , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
Human milk has been found to be beneficial for the development of all newborns. It is protective during the development of the gastrointestinal tract, important in neurologic development, immune system function, and nourishment. Human milk has a number of components that aid in the anti-inflammatory process and free radical reduction and is a building block for neurologic development. Cerebral white matter injury is a common occurrence in preterm infants. Results of this injury can be seen into early childhood and throughout the life of the individual. White matter injury most frequently occurs because of hypoxia and the inflammatory process, which often results in the injury of myelinating oligodendrites. This article proposes the potential importance of human milk in slowing and preventing cerebral white matter injury because of the components in human milk that affect the inflammatory and free radical reduction processes. It also proposes its ability to provide nutrients essential to myelin development.
