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Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

Marjo S. van der Knaap , Sietske H. Kevelam
DOI: http://dx.doi.org/10.1093/brain/awu130 e297 First published online: 30 May 2014


We are grateful for the opportunity to respond to the correspondence from Haack et al. (2014) and thank the authors for their interest in our recent paper on seven patients with early-infantile, lethal encephalopathy caused by SLC19A3 mutations (Kevelam et al., 2013). In their letter, the authors present two brothers with an early onset Leigh-like clinical presentation (Haack et al., 2014). The first boy died at the age of 2 months. The second was treated with thiamine and biotin from the day he presented (18 days old), with striking clinical improvement. Before treatment MRI showed bilateral signal abnormalities in limited areas of the cerebral cortex and in the basal nuclei, thalami and brainstem (Fig. 1A). With treatment, the signal abnormalities disappeared, although significant cerebral atrophy was seen …