Publication:

Vanishing white matter disease: a case of combined saposin deficiency

Vanishing white matter disease (VWMD) is an autosomal recessive neurodegenerative disease often present during childhood and is exacerbated by trauma and other stressors. VWMD is caused by EIF2B gene mutation, which encodes eukaryotic initiation factor 2 B (EIF2B), a transcription factor activated by insulin that is a major protein synthesis regulator during the integrated stress response. Autosomal recessive combined saposin deficiency is a metachromatic leukodystrophy, a progressive neurological disorder characterized by motor delay, regression of gained skills, and nerve demyelination. Here, we present the case of an 11-year-old Hispanic male presenting with ataxia, dysphagia, and global developmental delay which was found to have VWMD on imaging. A genetic panel reveals the PSAP gene, a novel presentation in the setting of VWMD.