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Fig. 1 | Italian Journal of Pediatrics

Fig. 1

From: A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro

Fig. 1

Brain magnetic resonance imaging on the 18d after birth. A showed symmetric decreased T1 signal in temporal lobal white matter (thin arrow) and subependymal cyst (thick arrow) on T1 weighted image; B showed multiple subependymal cysts (thick arrow) on T2 weighted image; C showed lactate doublet was present at 1.3 ppm (arrow) on single-voxel proton MR spectroscopy obtained with time of echo (TE) of 35 ms

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