[P3-86] Microstructural changes of white matter in brain in aromatic L-amino acid decarboxylase deficiency
Aromatic L-amino acid decarboxylase (AADC) deficiency is an important neurotransmitter disease in children. We investigated the clinical presentations and white matter change in children with AADC deficiency. Total 12 children (6 boys, 6 girls), aged from 9 to 50 months (mean, 23 ±13 months), with AADC deficiency, were enrolled for analysis. The clinical presentations included global developmental delay with generalized hypotonia in 12 (100%), dystonia in 12 (100%), oculogyric crisis in 12 (100%), sleep disorders (33%), and excessive sweating in 8 (67%). The major changes in MRI included 6 (40%) with diffusely prominent bilateral frontal sulci, 10 (67%) with prominent frontal horns, and 12 (80%) with hypomyelination. The frontal horn was significantly widened in children with AADC deficiency (p<0.01), and the volume of caudate nucleus was also significantly smaller in children with AADC deficiency (p=0.02). The ratios of thickness of the splenium to that of the genu of corpus callosum were also significantly increased (p<0.01). Fiber density indices in major white matter fiber tracts were also significantly decreased in children with AADC deficiency. Using Tract-Based Spatial Statistics approach, there were also significant change in major fiber tracts related to language function and motor function. In conclusion, AADC deficiency may have significant impact on brain development leading to the changes in the frontal lobe and fiber tracts related to language function and motor function. Long-term follow-up of brain MRI in patients with AADC deficiency may clarify the possible long-term development of white matter in AADC deficiency.