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A 15-Year Follow-Up of a Boy With Pyridoxine (Vitamin B6)-Dependent Seizures With Autism, Breath Holding, and Severe Mental Retardation

Department of Pediatrics, School of Medicine and Health Sciences University of North Dakota Grand Forks, North Dakota, laburd{at}mail.med.und.nodak.edu

Amy Stenehjem, MS

Department of Pediatrics, School of Medicine and Health Sciences University of North Dakota Grand Forks, North Dakota

Lisa A. Franceschini, MS

Department of Pediatrics, School of Medicine and Health Sciences University of North Dakota Grand Forks, North Dakota

Jacob Kerbeshian, MD

Department of Neurosciences, School of Medicine and Health Sciences University of North Dakota Grand Forks, North Dakota

Pyridoxine (vitamin B ₆) (2q31) dependency is a rare autosomalrecessive disorder that causes a severe seizure disorder of prenatal or neonatal onset. The abnormality appears to inhibit the binding of vitamin B6 to the enzyme glutamic acid decarboxylase-1, which is needed for the biosynthesis of -aminobutyric acid (GABA). Most patients with pyridoxine-dependent seizures require lifelong treatment with pyridoxine. The full range of associated symptomatology is unknown since fewer than 100 cases have been reported. A majority of cases are mentally retarded. We report a 15-year-old boy with pyridoxine-dependent seizures, nonpyridoxine-dependent seizures, severe mental retardation, autistic disorder, aerophagia, breath holding, and self-injury. This complex outcome should alert clinicians to the wide range of neuropsychiatric outcomes associated with this disorder. (J Child Neurol 2000;15: 763-765).

Journal of Child Neurology, Vol. 15, No. 11, 763-765 (2000)
DOI: 10.1177/088307380001501111


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