Neurology Resident and Fellow Section

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Neurology Resident and Fellow Section 21yo Female with Ovarian Failure and Abnormal Brain MRI Teaching NeuroImages Neurology Resident and Fellow Section © 2015 American Academy of Neurology

Vignette A 21-year-old Pakistani woman with a history of two seizures at 20 months and consanguinous parents was diagnosed with premature ovarian failure and hyperprolactinemia. Her neurological exam including neuropsychological testing was normal. Brain imaging was abnormal (Figure) Mukerji et al. © 2015 American Academy of Neurology

Imaging Figure: Hypointense signal is observed on sagittal T1-weighted MRI (A). Axial T2/Fluid attenuated inversion recovery (FLAIR) sequences shows extensive, symmetric, confluent high signal intensity in the fronto-parietal (B), periventricular (C) and cerebellar regions (D). Periventricular low signal intensity similar to cerebrospinal fluid signal behavior is suggestive of cystic degeneration (arrow). Mukerji et al. © 2015 American Academy of Neurology

Vanishing White Matter Ovarioleukodystrophy Genetic testing showed homozygosity for a p.Lys273Arg missense mutation in the Eukaryotic Initiation Factor 2B, subunit 2 (EIF2B2) gene (NM_014239.3: c.818A>G)1. Vanishing white matter (VWM) disease is an autosomal recessive leukoencephalopathy due to a mutation in one of the five subunits of the EIF2B gene (EIFB1-5). VWM has a variable phenotype, and ovarian failure is associated with the disease. Infantile and childhood onset is characterized by ataxia and rapid deterioration; adult forms may have limited clinical progression. Acute episodes of regression can be triggered by environmental stress such as head trauma or high fever1,2. Brain MRI is diagnostic and typically shows diffuse abnormality of the cerebral white matter2. REFERENCES: 1. Leegwater PA, Vermeulen G, Konst AA, et al. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nature genetics 2001;29:383-388. 2. Fogli A, Schiffmann R, Bertini E, et al. The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology 2004;62:1509-1517. Mukerji et al. © 2015 American Academy of Neurology