Focal Status Epilepticus as Atypical Presentation of Pyridoxine-Dependent Epilepsy

Abstract

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.

Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry

“…Since the initial description of this disorder in 1954 [20], over 100 cases have been reported, with many cases having been described over the past 15 years [4,14,18]. These more recent reports have stressed a variety of later onset (i.e., after 28 days of age) and other atypical clinical presentations of PDS [2,10,11,16,17,39], along with imaging [1,5,15,36] and neurophysiology findings [24,27] and epidemiological aspects [3,5,7,12] of the condition.…”

A rare case of pyridoxine-dependent seizures in infancy

“…reported PDE presenting as a case of focal status epilepticus. [4] Unusual foetal movements, suggesting intrauterine seizures, have been described. PDE should be considered in any infant with intractable epilepsy regardless of previous type of seizure and response to conventional treatment.…”

Pyridoxine dependent epilepsy: Seizure onset, seizure types and EEG features

“…The neonatal onset seizures within the first 4 wk of life have been reported in 84% of the patients in total. Eight percent of the patients had seizures between 1-3 mo of age [11, 26, 48, 51-53, 56, 59] and 5% between 3-6 mo of age [36,44,52,56,60]. Seizures began between 6-12 mo of age in only %2 of the patients [21,44] and above 12 mo of age (at age of 14 mo) only in 1% of the patients (Table 1) [18].…”