Miguel E. Obando-Gerron, Sección de Medicina de Urgencias, Universidad Pontificia Javeriana, Cali, Colombia
Carlos A. Castro-Galvis, Sección de Medicina de Urgencias, Universidad Pontificia Javeriana, Cali, Colombia
Juan S. Serna-Trejos, Sección de Medicina Interna, Universidad ICESI, Cali, Colombia
Stefanya G. Bermúdez-Moyano, Sección de Medicina Crítica y Cuidado Intensivo, Hospital Universitario del Valle, Cali, Colombia
Esteban Agudelo-Quintero, Sección de Neurología, Universidad CES, Instituto Neurológico de Colombia, Medellín, Colombia
Leukoencephalopathy with disappearance of the white matter is an autosomal recessive genetic disorder characterized by progressive loss of the white matter of the brain, triggered by factors such as infections or minor trauma. This report describes the case of a pediatric patient with a confirmed diagnosis of leukoencephalopathy with white matter disappearance associated with the homozygous c.338G>A variant in the EIF2B5 gene. The patient presented with generalized hypotonia, gait disturbances and slow speech after mild trauma, accompanied by typical MRI findings, including hyperintense lesions in the periventricular white matter and involvement of subcortical fibers. Multidisciplinary management included neurological rehabilitation therapies and pharmacological treatment to delay functional deterioration. This case emphasizes the relevance of early diagnosis based on imaging studies and genetic analysis, highlighting the need for further research to develop effective therapeutic and preventive strategies.
Keywords: Leukoencephalopathies. Leukoencephalopathy with evanescent white substance. Disappearing substance disease.
