VANISHING WHITE MATTER DISEASE WITH NEUTROPENIA: A CASE REPORT WITH SERIAL MRI AND EEG CORRELATION

Abstract

Objectives: Leukoencephalopathy with vanishing white matter (MIM #603896) is an autosomalrecessive disease with distinctive clinical and neuroradiologic features. The progression of neuroradiologic, MR spectroscopy and EEG studies have not been well described. Methods: We report a case with infantile onset of rapidly progressive mixed tone disorder, developmental regression, refractory seizures, and lens opacification. The case was complicated by chronic neutropenia and frequent infections leading to disease relapses. Genetic testing confirmed a compound heterozygous mutation of the eukaryotic initiation factor 2B (eIF-2B) beta subunit. Results: Serial magnetic resonance imaging demonstrates a characteristic pattern of diffuse progressive loss of normal white matter signal. Magnetic resonance spectroscopy confirmed loss of normal neuronal signals and an increasing lactate peak. Serial electroencephalograms recorded increasing generalized slowing and multifocal epileptogenic activity. Conclusion: The present study demonstrates the progressive imaging, MR spectroscopic and EEG findings in a case of rapidly progressive leukoencephalopathy with vanishing white matter disease complicated by neutropenia.