PMC8276965_01
Clinical photograph of siblings showing dystonia (white arrows in A) in the resting state and increased dystonia when extending the limbs (white arrows1B)
JPN-16-75-g001.jpg
PMC8276965_02_JPN-16-75-g001.jpg
F1
Neurological examination revealed dystonic posturing [Figure 1] with exaggerated deep tendon reflexes and extensor plantar.
PMC8276965_02
Clinical photograph of siblings showing dystonia (white arrows in A) in the resting state and increased dystonia when extending the limbs (white arrows1B)
JPN-16-75-g001.jpg
PMC8276965_02_JPN-16-75-g001.jpg
F1
Neurological examination revealed dystonic posturing [Figure 1] with exaggerated deep tendon reflexes and extensor plantar.
MRI T2 axial of case 1 (A) and case 2 (B) showing bilateral symmetrical hyperintensities in posterior putamen with posterior putaminal atrophy (black arrows). Axial FLAIR (C) and coronal FLAIR (D) no widening of sylvian fissure and no frontotemporal lobe atrophy that is usual finding in glutaric aciduria as shown in [Figure 3]
JPN-16-75-g002.jpg
PMC8276965_02_JPN-16-75-g002.jpg
F2
T2 hyperintensities in posterior putamen with volume loss [Figure 2A and B]. Tandem mass spectrometry (TMS) and urinary gas chromatography-mass spectrometry (GCMS) which were repeated twice were normal.