期刊
JOURNAL OF CHILD NEUROLOGY
卷 30, 期 4, 页码 486-489出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073814544365
关键词
succinic semialdehyde dehydrogenase deficiency; psychomotor retardation; dyskinesia
Succinic semialdehyde dehydrogenase deficiency is a rare autosomal recessive metabolic disorder affecting -aminobutyric acid degradation. We described a boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency and novel mutations of ALDH5A1 gene. He was referred because of developmental delay, focal seizures, and choreoathetosis at 6 months of age. The diagnosis of succinic semialdehyde dehydrogenase deficiency was confirmed by increased level of -hydroxybutyric acid in urine and novel compound heterozygous mutations in the ALDH5A1 gene. His seizures were successfully controlled. However, the patient showed a slowly progressive clinical course with severe neurologic deficits. A magnetic resonance imaging (MRI) revealed abnormal high intensities in the putamen and globus pallidi on T2-weighted images when he was 6 months old, and more diffuse abnormal signal intensities over bilateral hemispheres were noted when he was 3 years old.
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