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- Title
Vanishing white matter disease, a rare leukodystrophy with mutation in the EIF2B5 gene.
- Authors
SINKÓ, Gabriella; TOMPA, Márton; KISS, Zsuzsanna; KÁLMÁN, Bernadette
- Abstract
Background – Leukodystrophies, a heterogeneous group of brain and spinal cord disorders, often pose challenges in establishing molecular etiology. Vanishing White Matter Disease (VWMD) is a rare subtype of leukodystrophies presenting with characteristic clinical and MRI features, nevertheless, achieving diagnostic certainty requires genetic studies. Case presentation – 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 increased signal intensity in the cerebral and cerebellar white matter on T2/FLAIR sequences, within which hypointense regions appeared 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. Conclusion – 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.
- Subjects
LEUKOENCEPHALOPATHIES; GENETIC mutation; SPINAL cord; CEREBROSPINAL fluid; GENETIC disorder diagnosis; LEUKODYSTROPHY
- Publication
Clinical Neuroscience / Ideggyógyászati Szemle, 2024, Vol 77, Issue 5/6, p207
- ISSN
0019-1442
- Publication type
Article
- DOI
10.18071/isz.77.0207