Abstract
We report sibling cases of aromatic l-amino acid decarboxylase (AADC) deficiency, which is a very rare congenital metabolic
disorder. These patients were born to healthy and non-consanguineous parents, and
presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation
since early infancy. In cerebrospinal fluid the levels of homovanilic acid and 5-hydroxyindoleacetic
acid were very low and the level of l-dopa was very high. The diagnosis was confirmed by the lack of AADC activity in plasma,
and a point mutation in the AADC gene. MRI revealed a slightly small volume of the prefrontal areas and normal myelination
in both patients. Positron emission tomography using 2-deoxy-2[18F] fluoro-d-glucose was performed in one patient, which revealed hypometabolism in the prefrontal
cortex and bilateral basal ganglia with a little laterality. These findings suggested
that the severe dystonic features were caused by abnormal function of bilateral basal
ganglia and severe psychomotor retardation could be due to abnormalities in prefrontal
cortical activity.
Keywords
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Article info
Publication history
Published online: June 11, 2009
Accepted:
May 10,
2009
Received in revised form:
April 29,
2009
Received:
February 7,
2009
Identification
Copyright
© 2009 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
