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Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency
Wang-Tso Lee1,2, Jui-Hsiang Lin3, Wen-Chin Weng1,2
1Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Insights
Aromatic L-amino acid decarboxylase (AADC) deficiency impacts brain development, particularly the frontal lobe and white matter tracts. This study details clinical and MRI findings in children with AADC deficiency, revealing significant brain abnormalities.
Area of Science:
- Neurology
- Metabolic Disorders
- Neuroimaging
Background:
- Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited neurometabolic disorder.
- Understanding its impact on brain development is crucial for early diagnosis and management.
Purpose of the Study:
- To investigate the clinical presentations and Magnetic Resonance Imaging (MRI) findings in children diagnosed with AADC deficiency.
- To identify specific brain structural changes associated with AADC deficiency.
Main Methods:
- Analysis of clinical data and MRI examinations from 12 children (aged 9-50 months) with confirmed AADC deficiency.
- Utilized Tract-Based Spatial Statistics (TBSS) to assess white matter integrity.
Main Results:
- Common clinical features included global developmental delay, hypotonia, dystonia, oculogyric crisis, and excessive sweating.
- MRI revealed prominent frontal horns, hypomyelination, smaller caudate nucleus volume, and increased corpus callosum splenium-to-genu thickness ratio.
- TBSS showed significant alterations in white matter tracts crucial for language and motor functions.
Conclusions:
- AADC deficiency significantly affects brain development, particularly the frontal lobe and associated white matter tracts.
- These findings highlight the importance of long-term neuroimaging follow-up to understand the progression of brain abnormalities in AADC deficiency.
Abstract:
Aromatic L-amino acid decarboxylase (AADC) deficiency is an uncommon inherited neurometabolic disease. The clinical presentations and MR findings in children with AADC deficiency were investigated. Total 12 children (6 boys, 6 girls), aged from 9 to 50 months (mean, 23 ±13 months), with AADC deficiency, were enrolled for analysis. Of 12 patients enrolled, clinical presentations included global developmental delay with generalized hypotonia in 12 (100%), dystonia in 12 (100%), oculogyric crisis in 12 (100%), and excessive sweating in 8 (67%). Sleep problem was also found in 4 (33%). Of 15 MR examinations, the major changes included 6 (40%) with diffusely prominent bilateral frontal sulci, 10 (67%) with prominent frontal horns, and 12 (80%) with hypomyelination. In AADC patients, the frontal horn was significantly widened (P < 0.01), and the volume of caudate nucleus was also significantly smaller than that of controls (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). There was also significant decrease of fiber density indices in major white matter fiber tracts. Using Tract-Based Spatial Statistics approach, we also revealed significant change in major fiber tracts related to language function and motor function. In conclusion, the present study indicated that AADC deficiency may have significant impact on brain development, especially 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 effect of AADC deficiency on brain development. Hum Brain Mapp 38:1532-1540, 2017. © 2016 Wiley Periodicals, Inc.
