Focal status epilepticus as atypical presentation of pyridoxine-dependent epilepsy.
Pyridoxine-dependent epilepsy usually presents in the neonatal period or even in utero, is refractory to antiepileptic medications, and is treatable with lifelong administration of pyridoxine. The seizures are typically generalized tonic-clonic, although myoclonic seizures or infantile spasms have been described. We report an infant who presented at 5 months of age with a right-sided clonic seizure with fever. Subsequently, she had recurrent right focal or generalized seizures despite sequential treatment with various antiepileptic medications. At 7 months, she was hospitalized with status epilepticus, which was finally controlled with pyridoxine. After she became seizure free, she continued to have a strong left arm preference with mild weakness of the right arm and delayed language skill. Eventually, she outgrew these symptoms. This case illustrates that pyridoxine-dependent epilepsy, although rare, must be included in the differential diagnosis of focal seizures, especially when the seizures are refractory to traditional antiepileptic drugs.
Yoshii
Akira
A
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Takeoka
Masanori
M
Kelly
Peter J
PJ
Krishnamoorthy
Kalpahty S
KS
D003937:Diagnosis, Differential; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D011736:Pyridoxine / Q000627:therapeutic use; D013226:Status Epilepticus / Q000175:diagnosis / Q000209:etiology*; D026681:Vitamin B 6 Deficiency / Q000150:complications*; D014803:Vitamin B Complex / Q000627:therapeutic use
D014803:Vitamin B Complex; D011736:Pyridoxine