Fatal infantile leukodystrophy: A severe variant of CACH/VWM syndrome, allelic to chromosome 3q27

To the Editor: Francalanci et al.1 described two sisters with a severe infantile variant of CACH/VWM leukodystrophy, which begins after an infectious illness and runs a progressive course to death within 7 months of onset. We describe a similar, severe infantile leukoencephalopathy in the indigenous Cree population of Northern Quebec in 1988.2 The distinguishing clinical features of Cree leukoencephalopathy (CLE) are: 1) acute or subacute onset of neurologic deterioration in mid-infancy in the setting of a febrile illness; 2) massive, symmetrical attenuation of cerebral white matter on CT and MRI; 3) death in 100% of cases by 21 months; and 4) diffuse attenuation of cerebral myelin with minimal sudanophilia, absence of intracellular storage products, preserved neurons, and absent or minimal inflammation on light microscopic examination. Our cases also had negative systemic and metabolic studies for the known leukodystrophies and a similar rostrocaudal …