Microstructural changes of brain in patients with aromatic L‐amino acid decarboxylase deficiency

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 deficie...

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Bibliographic Details
Published in:Human brain mapping 2017-03, Vol.38 (3), p.1532-1540
Main Authors: Lee, Wang‐Tso, Lin, Jui‐Hsiang, Weng, Wen‐Chin, Peng, Steven Shinn‐Forng
Format: Article
Language:English
Subjects:
Amino Acid Metabolism, Inborn Errors - complications
Amino Acid Metabolism, Inborn Errors - diagnostic imaging
Amino Acid Metabolism, Inborn Errors - pathology
aromatic L‐amino acid decarboxylase deficiency
Aromatic-L-Amino-Acid Decarboxylases - deficiency
brain
Brain - diagnostic imaging
Brain - physiopathology
Brain Mapping
Case-Control Studies
Child, Preschool
children
Diffusion Magnetic Resonance Imaging
diffusion tensor imaging
Dystonia - diagnostic imaging
Dystonia - etiology
Female
Follow-Up Studies
Humans
Image Processing, Computer-Assisted
Infant
magnetic resonance image
Magnetic Resonance Imaging
Male
Muscle Hypotonia - diagnostic imaging
Muscle Hypotonia - etiology
Neural Pathways - diagnostic imaging
Neural Pathways - pathology
Sleep Wake Disorders - diagnostic imaging
Sleep Wake Disorders - etiology
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Summary: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 
ISSN:1065-9471
1097-0193
DOI:10.1002/hbm.23470