[Vanishing white matter disease, a rare leukodystrophy with mutation in the EIF2B5 gene].

<p style="text-align: justify;"><strong>Background -</strong> Leukodystrophies, a hete&shy;ro&shy;&shy;ge&shy;neous group of brain and spinal cord dis&shy;orders, often pose challenges in es&shy;tab&shy;li&shy;shing&nbsp;molecular etiology. Vanishing White Matter Disease (VWMD) is a rare sub&shy;type of leu&shy;ko&shy;dys&shy;trophies presenting with characteristic clinical and MRI features, ne&shy;ver&shy;theless, achieving diag&shy;nostic certainty requires genetic studies.</p> <p style="text-align: justify;"><strong>Case presentation -</strong> Our patient is a nine year old girl, who developed progressive gait difficulties at around 3-4 years of age. Her brain MRI showed confluent lesions with in&shy;&shy;creased signal intensity in the cerebral and cerebellar white matter on T2/FLAIR se&shy;quen&shy;ces, within which hypointense regions ap&shy;peared with signal intensity resembling that of the cerebrospinal fluid on T1 sequences. Whole exome sequencing identified a homozygous likely pathogenic variant within the EIF2B5 gene in the proband, which was present in a heterozygous state in both asymptomatic parents. Having the clinical and molecular genetic diagnosis established, we explored therapeutic possibilities for the patient.</p> <p style="text-align: justify;"><strong>Conclusion - </strong>VWMD is a severe form of leukodystrophies with little or no disease modifying therapy available until recently. A better understanding of its molecular pathogenesis offers some hope for new inventive therapies.&nbsp;</p>.