Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 2.

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Fig. 2. Neuroimaging evaluation of the two siblings. Magnetic resonance imaging (MRI) performed in the older sibling at 2 years of age showing delayed myelination of white matter (A.I, II, III). Following MRI performed at 4 years of age showing progressive cerebellar atrophy (B.I, II, III). MRI in the younger sibling at 20 days of age showing hypersignal intensity on T1 weighted image (C.I,III) suggesting periventricular leukomalacia (C.I, II, III). Computed tomography scan of the younger sibling at 2 years of age showing mild corpus callosum thinning and prominent extra-axial fluid, but intact cerebellum (D.I, II, III).
Journal of Genetic Medicine 2021;18:127-31
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