Pyridoxine and Myoclonic Seizures

Focal Status Epilepticus as Atypical Presentation of Pyridoxine-Dependent Epilepsy

“…However, other atypical seizure types, such as atonic seizures, myoclonic seizures, and infantile spasms, have been described. [2][3][4] Goutieres and Aicardi reported patients with unilateral seizures without focal findings in EEGs. 9 There were several unusual features in the presentation of the case described.…”

“…2,3 Previous magnetic resonance imaging (MRI) studies have demonstrated increased signal intensity in the periventricular white matter and centrum semiovale; furthermore, delayed myelination, especially in the occipital region, was reported. [4][5][6] Single-voxel 7 and multivoxel proton magnetic resonance spectroscopy 8 findings of rhizomelic chondrodysplasia punctata were reported in two cases. To our knowledge, in the literature, this is the second case reporting multivoxel magnetic resonance spectroscopy findings of rhizomelic chondrodysplasia punctata.…”

“…1 The seizures are typically generalized tonicclonic, although myoclonic seizures or infantile spasms have been described. [2][3][4] A response to pyridoxine is the cornerstone of treatment regardless of seizure type. We report an unusual presentation of pyridoxine dependency with delayed-onset focal clonic seizures in infancy.…”