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Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks
Ozlem Unal1, Burce Ozgen, Diclehan Orhan
11Department of Pediatrics, Hacettepe University, Division of Metabolism and Nutrition, Ankara, Turkey.
Journal of Child Neurology
|September 21, 2012
Summary
Vanishing white matter disease, a severe leukodystrophy, can present with unusual symptoms like liver enlargement and high triglycerides. This case highlights a novel genetic mutation association in EIF2B2, expanding our understanding of the disease.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Vanishing white matter disease (VWMD) is a prevalent childhood leukodystrophy.
- It stems from mutations in genes for eukaryotic translation initiation factor 2B (eIF2B).
- VWMD exhibits broad phenotypic variability, affecting all age groups.
Purpose of the Study:
- To report a unique case of VWMD with concurrent hepatomegaly and hypertriglyceridemia.
- To identify the specific genetic mutations associated with this presentation.
Main Methods:
- Clinical case presentation.
- Genetic sequencing to identify mutations in the EIF2B2 gene.
Main Results:
- The patient presented with neurological deterioration, hepatomegaly, and hypertriglyceridemia attacks.
- Heterozygous mutations c.817 A>C (p.Lys273Gln) and c.939_948del (p.Asp314ProfsX23) were identified in the EIF2B2 gene.
- This specific combination of mutations and clinical features has not been previously documented.
Conclusions:
- This case expands the known clinical spectrum of vanishing white matter disease.
- The identified EIF2B2 mutations represent a novel genetic cause associated with VWMD, hepatomegaly, and hypertriglyceridemia.
- Further research is warranted to understand the genotype-phenotype correlation in VWMD.
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