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. 2023 Nov;81(11):1020-1021.
doi: 10.1055/s-0043-1772606. Epub 2023 Oct 13.

SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease

Leonardo Furtado Freitas  1 , Eduardo Carvalho Miranda  2 , Thelma Ribeiro Noce  3   4 , Aline Pimentel Amaro  2 , Márcio Luís Duarte  5
Affiliations

SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease

Leonardo Furtado Freitas et al. Arq Neuropsiquiatr. 2023 Nov.
No abstract available

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Conflict of interest statement

The authors have no conflict of interest to declare.

Figures

Figure 1
Figure 1
Brain magnetic resonance imaging (MRI) scan at two months of age. Axial diffusion ( A , B ); fluid-attenuated inversion recovery (FLAIR) ( C ); apparent diffusion coefficient (ADC) map ( D , E ); and T2-weighted imaging ( F ). Symmetric areas of cytotoxic (red arrows) and vasogenic (asterisk) edema in the midbrain, superior vermis, subcortical white matter of the cerebral hemispheres, genu of the corpus callosum, internal capsules, and basal ganglia, mainly in the putamina and thalami. There are also some cystic changes in the occipital lobes (blue arrows). Magnetic resonance spectroscopy (MRS) ( G ) with intermediate TE (144 ms) showing the lactate inverted peaks at 1.3 ppm chemical shift (green arrow).
Figure 2
Figure 2
Two-month follow-up after treatment with biotin and thiamine. Axial diffusion ( A ); FLAIR ( B ); T2- ( C ) and T1-weighted ( D ) multiplanar gradient-recalled (MPGR) imaging. Resolution of the areas with restriction diffusion and interval encephalomalacia and necrosis in the basal ganglia bilaterally, mainly in the thalami (arrows). There is diffuse cerebral atrophy and holohemispheric subdural hematomas (asterisk), due to stretching of the bridging veins.
See this image and copyright information in PMC

References

    1. Haack T B, Klee D, Strom T Met al.Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease Brain 2014137(Pt 9):e295. - PubMed
    1. Alfadhel M. Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review . J Cent Nerv Syst Dis. 2017;9:1.179573517737521E15. - PMC - PubMed

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