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A 14-month-old boy presented with loss of developmental milestones and tonic spasms following a diarrheal illness. He was born to nonconsanguineous parents and had mild motor delays. Examination was remarkable for macrocephaly, axial hypotonia, and asymmetric dystonic posturing of neck, trunk, and extremities. …

Teaching Neuro Images : Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency)