A 11-month-old girl with acute irritability and hypotonia

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Presentation transcript:

A 11-month-old girl with acute irritability and hypotonia Teaching NeuroImages Neurology Resident and Fellow Section © 2018 American Academy of Neurology

Vignette An 11-month-old previously healthy girl presented with acute clinical regression following a febrile illness Patient was irritable and weak Physical exam showed hypotonia Hong, et. al © 2018 American Academy of Neurology

Imaging A B C Sagittal T1-weighted image shows patchy leukoencephalopathy with cavitation affecting the corpus callosum and centrum semiovale, with relative sparing of underlying U-fibers and gray matter (A;arrowhead). Bilateral, symmetric T2 hyperintense white matter lesions on axial T2 fluid-attenuated inversion recovery (FLAIR) did not enhance with contrast (B;arrow). Axial diffusion-weighted images (DWI) demonstrate diffusion restriction (C;arrow). Hong, et. al © 2018 American Academy of Neurology

MRI findings in an infant with cavitating leukoencephalopathy Patient was diagnosed with a pathogenic variant, p.R386C, in the NDUFV1 gene, which encodes mitochondrial complex I Megavitamin cocktail (vitamin C, vitamin E, CoQ10, L-carnitine, and thiamine) was started Patient regained psychomotor milestones with no further events at one year follow up Zafeiriou DI, Rodenburg RJT, Scheffer H, et al. MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course. Neuropediatrics. 2008;39(3):172-5 Naidu S, Bibat G, Lin D, et al. Progressive cavitating leukoencephalopathy: a novel childhood disease. Ann Neurol 2005;58:929-938. Hong, et. al © 2018 American Academy of Neurology