A 15-year follow-up of a boy with pyridoxine (vitamin B6)-dependent seizures with autism, breath holding, and severe mental retardation.
Pyridoxine (vitamin B6) (2q31) dependency is a rare autosomal-recessive 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 gamma-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.
Burd
L
L
Department of Pediatrics, School of Medicine and Health Sciences, University of North Dakota, Grand Forks, USA. laburd@mail.med.und.nodak.edu
Stenehjem
A
A
Franceschini
L A
LA
Kerbeshian
J
J
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D000927:Anticonvulsants / Q000627:therapeutic use; D001321:Autistic Disorder / Q000209:etiology / Q000378:metabolism*; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000175:diagnosis* / Q000188:drug therapy / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000378:metabolism*; D008297:Male; D011736:Pyridoxine / Q000235:genetics / Q000378:metabolism* / Q000627:therapeutic use; D012720:Severity of Illness Index; D019956:Stereotypic Movement Disorder / Q000209:etiology / Q000378:metabolism*; D016896:Treatment Outcome; D005680:gamma-Aminobutyric Acid / Q000378:metabolism
D000927:Anticonvulsants; D005680:gamma-Aminobutyric Acid; D011736:Pyridoxine