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From the Departments of Neurology (Dr. Gospe), Pediatrics (Dr. Gospe), Radiology (Dr. Hecht), and Neurological Surgery (Dr. Hecht), University of California, Davis, CA.
Address correspondence and reprint requests to Dr. Sidney M. Gospe, Jr., Child Neurology, UC Davis Medical Center, 2315 Stockton Boulevard, Sacramento, CA 95817.
Background: Pyridoxine dependency is an uncommon familial cause of intractable seizures in newborns and infants. Fewer than 100 patients have been reported, and only four reports have included examples of brain imaging findings. We report the first longitudinal MRI findings in two patients with this condition.
Methods: Six brain MR scans, three each from two patients with pyridoxine-dependent seizures, were reviewed. Morphometry of selected axial images was performed to calculate the ventricle-to-brain ratio (VBR).
Patients: A girl, followed for 5 years, presented with intrauterine fetal seizures and neonatal seizures, and pyridoxine dependency was confirmed at 3.5 months of age. This patient had a subsequent history of poor compliance with pyridoxine therapy and severe developmental disability. A boy, followed for 9 years, presented with neonatal seizures, and pyridoxine dependency was diagnosed at 8 months of age.
Results: The serial MR scans demonstrated progressive dilation of the ventricular system and atrophy of the cortex and subcortical white matter together with an increase in the VBR. These progressive abnormalities were greater in the 5-year-old girl.
Conclusion: Pyridoxine-dependent seizures are due to an inborn abnormality in the pyridoxine-dependent synthesis of 
-aminobutyric acid (GABA). The progressive MR changes may be due to chronic excitotoxicity caused by an imbalance of cerebral levels of GABA and glutamic acid.
Supported in part by funds from the Children's Miracle Network Research Program, University of California, Davis.
Received January 20, 1998. Accepted in final form March 13, 1998.
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A. Yoshii, M. Takeoka, P. J. Kelly, and K. S. Krishnamoorthy Focal Status Epilepticus as Atypical Presentation of Pyridoxine-Dependent Epilepsy J Child Neurol, August 1, 2005; 20(8): 696 - 698. [Abstract] [PDF]
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 J. S. Hahn and D. M. Olson Etiology of Neonatal Seizures NeoReviews, August 1, 2004; 5(8): e327 - e335. [Full Text] [PDF]
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A. Alkan, R. Kutlu, M. Aslan, A. Sigirci, I. Orkan, and C. Yakinci Pyridoxine-Dependent Seizures: Magnetic Resonance Spectroscopy Findings J Child Neurol, January 1, 2004; 19(1): 75 - 78. [Abstract] [PDF]
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 G. Battaglioli, D. R. Rosen, S. M. Gospe Jr., and D. L. Martin Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures Neurology, July 25, 2000; 55(2): 309 - 311. [Abstract] [Full Text] [PDF]
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H. Yoshikawa, T. Abe, and Y. Oda Pyridoxine-Dependent Seizures in an Older Child J Child Neurol, October 1, 1999; 14(10): 687 - 690. [Abstract] [PDF]
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