CREE LEUKOENCEPHALOPATHY: ANOTHER CAUSE OF A “TIGROID” PATTERN OF DEMYELINATION

Objectives: To document a case of DNA proven Cree Leukoencephalopathy (CLE) with a “tigroid” pattern of demyelination, not previously reported.

Methods: An 11 month old male Cree infant presented with a 6 month history of hypotonia, developmental regression and seizures following an upper respiratory illness. Investigations included an MRI (1.5 Tesla Siemens Symphony) and genetic analysis of the translation initiation factor 2B (EIF2B5) gene.

Results: MRI demonstrated symmetric white matter T1 hypointensity and T2 hyperintensity. Much of the supratentorial white matter was hypointense on the FLAIR sequence but with linear and punctate regions of increased signal, reminiscent of a “tigroid”pattern. CLE affects infants of Cree descent and its inheritance is autosomal recessive. Our patient was homozygous for the previously reported R195H mutation in the EIF2B5 gene.

Conclusion: Neuroimaging features in CLE are striking with T2 hyperintensity related to the infra and supratentorial white matter in keeping with extensive demyelination. The presence of a “tigroid” pattern of demyelination has not been described in CLE although a similar pattern has been well documented in Pelizaeus-Merzbacher disease and metachromatic leukodystrophy. Our case demonstrates another cause for a tigroid pattern of demyelination in a patient with DNA proven CLE.