Long-Standing Psychiatric Features as the Only Clinical Presentation of Vanishing White Matter Disease

Vanishing white matter disease (VWMD) is an autosomal recessive leukoencephalopathy caused by mutations in any of the five genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5) that encode the subunits of eukaryotic translation initiation factor 2B (eIF2B), which is essential for protein synthesis (1).VWMD clinically ranges from antenatal or early infantile onset with poor outcome (2) to adult onset with slow progression, where the age at onset is a strong predictor of disease course (3).Affected individuals typically have normal early development, followed by neurological deterioration triggered by stress-provoked episodes of rapid decline.Patients with adolescent or adult onset are more likely to exhibit cognitive problems at the time of or shortly after the disease onset.However, psychiatric disorders have been rarely reported as the only symptoms at the time of diagnosis (3-7) and usually are followed by neurologic manifestations within a few years (6).In women, VWMD can present as ovarioleukodystrophy, a condition in which leukodystrophy is associated with primary or secondary ovarian failure (2, 3).While this could help in reaching a diagnosis in females, the diagnosis in adult males may be challenging, given the possible atypical onset and insidious clinical course.VWMD is a recognizable disorder on brain MRI, usually characterized by diffuse and symmetric white matter T 2hyperintensities and progressive white matter rarefaction.The latter is a hallmark of the disease, both in pediatric-and adultonset cases (7).EIF2B5 is by far the most commonly mutated gene among adults with VWMD, with the recurrent c.338G.A(p.Arg113His) mutation accounting for the majority of adult cases (6), while c.260C.T(p.Ala87Val) is a founder EIF2B3 VWMD mutation in the French Canadian population of Quebec (8).Here, we present the case of an adult male who presented with only psychiatric symptoms for more than 20 years before occurrence of the typical neurological symptoms and deterioration of VWMD.

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