ADULT-ONSET VANISHING WHITE MATTER LEUKOENCEPHALOPATHY PRESENTING AS PSYCHOSIS

Abstract

Childhood ataxia with CNS hypomyelination, also called leukoencephalopathy with vanishing white matter (CACH/VWM; OMIM 603896), is an autosomal recessive disease, defined by clinical and neuroradiologic features.1 After usually normal early development, patients aged between 2 and 5 years present with progressive cerebellar ataxia, spasticity, and a relatively mild mental impairment. Disease progression can be exacerbated during febrile illnesses or after head trauma, leading to death usually after 2 to 5 years of evolution. Since recent reports, disease severity seems to be correlated to age at disease onset.1 The most severe forms are the rapidly fatal congenital forms.1 In contrast, adult onset forms are recently recognized.1-6 Cerebral MRI findings in CACH/VWM are very characteristic, with a CSF-like diffuse signal of the cerebral hemispheric white matter. Neuropathologic studies reveal a cavitating orthochromatic leukodystrophy. CACH/VWM is caused by mutations within one of the five EIF2B genes.1 We report on one patient with adult-onset VWM revealed by isolated schizophrenia-like syndrome. This presentation expands the spectrum of phenotypes featuring CACH/VWM. ### Case report. A 32-year-old man with progressive behavioral changes was …