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Case Reports
. 2017 Oct 27:9:1179573517737521.
doi: 10.1177/1179573517737521. eCollection 2017.

Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review

Majid Alfadhel  1   2
Affiliations
Case Reports

Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review

Majid Alfadhel. J Cent Nerv Syst Dis. .

Abstract

Solute carrier family 19 (thiamine transporter), member 3 (SCL19A3) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early infantile Leigh-like SLC19A3 gene defects of patients who died at 4 months of age with no response to a high dose of biotin and thiamine. In addition, we report a novel mutation that was not reported previously. Finally, we review the literature regarding early infantile Leigh-like SLC19A3 gene defects and compare the literature with our patient.

Keywords: Leigh syndrome; Leigh-like; SCL19A3 gene defect; SLC19A3 gene; biotin; thiamine.

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Conflict of interest statement

Declaration of conflicting interests:The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
Brain MRI and MRS. (A)-T1 weighted axial section showing extensive brain damage with cystic encephalomalacia, bilateral subdural effusion, and ex vacuo enlargement of the ventricles. (B) Diffusion-weighted image, axial section, showing restricted diffusion in the margin of the cerebral cortices bilaterally (arrow). (C) T2-weighted axial section showing abnormal signaling in the cerebellum and volume loss in brain stem. (D) MRS showing mild lactate peak at 1.3 ppm (arrow). TE: 35 ms. Ch indicates choline; Cr, creatine; L, lactate; MI, myoinositol; MRI, magnetic resonance imaging; MRS, magnetic resonance spectroscopy; NAA, N-acetylaspartate; TE, echo time.
See this image and copyright information in PMC

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