Hereditary Leukodystrophy Masquerading as Acquired Demyelination

Abstract

A BSTRACT We present a case of a 22-year-old woman who initially presented with bilateral optic neuritis along with MOG antibody positivity, 1 year ago, at another hospital. She was treated with immunosuppressants and remained asymptomatic for 1 year. Later, she presented to us with progressively increasing ataxia, vertigo, and vomiting. Clinical examination revealed bilateral cerebellar signs. Repeat MOG and NMO antibodies were negative. MRI of the brain revealed multiple T2 FLAIR hyperintensities in the white matter of midbrain, pons, both subcortical regions, and corpus callosum without contrast enhancement. MRI of the spine was normal. VEP (visual evoked potential) was normal. Anti–nuclear antibodies (ANA) and antineutrophil cytoplasmic antibodies (ANCA) were negative; however, the ANA blot showed the presence of anti-Ro antibodies. Tear break-up time and Schirmer test were negative. The lip biopsy was performed twice, but the results were inconclusive. She showed no response to immunotherapy. The patient continued to deteriorate and became bedridden. Sequential MRIs showed markedly increased T2 FLAIR symmetrical hyperintensities involving most of the white matter in subcortical regions and the brain stem without contrast enhancement. Whole-genome sequencing confirmed hereditary autosomal dominant leukodystrophy associated with LMNB1 (LaminB1).