[Vanishing white matter disease, a rare leukodystrophy with mutation in the EIF2B5 gene].
In: Ideggyogyaszati szemle, Jg. 77 (2024-05-30), Heft 5-6, S. 207
academicJournal
Zugriff:
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. .
Titel: |
[Vanishing white matter disease, a rare leukodystrophy with mutation in the EIF2B5 gene].
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Autor/in / Beteiligte Person: | Sinkó, G ; Tompa, M ; Kiss, Z ; Kálmán, B |
Zeitschrift: | Ideggyogyaszati szemle, Jg. 77 (2024-05-30), Heft 5-6, S. 207 |
Veröffentlichung: | <2004- > : Budapest : Literatura Medica ; <i>Original Publication</i>: Budapest, Művelt Nép Tudományos és Ismeretterjesztő Kiadó, 2024 |
Medientyp: | academicJournal |
ISSN: | 0019-1442 (print) |
DOI: | 10.18071/isz.77.0207 |
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