Related Experiment Video

Updated: Aug 15, 2026

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy
09:57

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy

Published on: September 20, 2024

Focal status epilepticus as atypical presentation of pyridoxine-dependent epilepsy

Akira Yoshii1, Masanori Takeoka, Peter J Kelly

  • 1Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

Journal of Child Neurology
|October 18, 2005
PubMed

Insights

Pyridoxine-dependent epilepsy, a rare condition, causes seizures resistant to standard treatments. Early diagnosis and lifelong pyridoxine supplementation are crucial for managing this epilepsy syndrome.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Pyridoxine-dependent epilepsy (PDE) is a rare genetic disorder.
  • It typically presents in neonates and is refractory to conventional antiepileptic drugs.
  • Treatment involves lifelong pyridoxine (vitamin B6) supplementation.

Observation:

  • A 5-month-old infant presented with focal seizures, initially triggered by fever.
  • The infant experienced recurrent focal and generalized seizures despite multiple antiepileptic medications.
  • Status epilepticus at 7 months was eventually controlled with pyridoxine administration.

Findings:

  • The infant's seizures resolved completely after pyridoxine treatment.
  • Transient neurological deficits, including hemiparesis and delayed language, were observed post-seizure control.
  • These deficits resolved spontaneously, indicating the treatable nature of PDE.

Implications:

  • This case highlights that pyridoxine-dependent epilepsy should be considered in the differential diagnosis of focal seizures, particularly in infants.
  • Refractory epilepsy in infants warrants investigation for metabolic causes like PDE.
  • Timely diagnosis and treatment with pyridoxine can prevent long-term neurological sequelae.

More Related Videos

Non-restraining EEG Radiotelemetry: Epidural and Deep Intracerebral Stereotaxic EEG Electrode Placement06:58

Non-restraining EEG Radiotelemetry: Epidural and Deep Intracerebral Stereotaxic EEG Electrode Placement

Published on: June 25, 2016

Related Concept Videos

Seizures l: Introduction01:20

Seizures l: Introduction

Understanding seizures and epilepsy relies on key definitions that help in recognizing, classifying, and managing these disorders. These definitions provide a framework for recognizing, classifying, and managing seizure disorders.DefinitionsA seizure is a sudden, abnormal burst of electrical activity in the brain that can cause changes in awareness, movement, sensation, or behavior, depending on the area involved. Epilepsy is a chronic condition characterized by recurrent, unprovoked seizures,...
Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Seizures: Classification01:13

Seizures: Classification

Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Epilepsy ll: Types01:22

Epilepsy ll: Types

Recurrent seizures, stemming from abnormal electrical activity in the brain, are the defining characteristic of epilepsy, a chronic neurological condition. Because seizure features vary greatly, epilepsy is classified using two systems: by seizure type and by epilepsy syndromes. These classifications enable clinicians to describe seizure patterns and select suitable treatment strategies.I. Classification by Seizure Type1. Focal EpilepsyFocal epilepsy begins in one hemisphere of the brain.
Antiepileptic Drugs: Glutamate Antagonists01:14

Antiepileptic Drugs: Glutamate Antagonists

Glutamate is a fundamental neurotransmitter in the central nervous system, playing a vital role in neuronal communication and various cognitive processes. Glutamate stands as the principal excitatory neurotransmitter in the brain. Its presence is crucial for the communication between neurons, underpinning essential processes such as synaptic transmission, neuronal excitability, and plasticity. These functions are vital for higher-order cognitive processes, including learning and memory. The...
Seizures ll: Types01:19

Seizures ll: Types

Seizures are sudden bursts of abnormal electrical discharge in the brain that interfere with normal function. They are commonly divided into three groups: focal seizures, generalized seizures, and other types that do not fit neatly into either category.Focal SeizuresFocal seizures begin in a single brain region. When awareness is preserved, they are called focal aware seizures and may cause sensations such as tingling, unusual smells, or flashing lights. When awareness is impaired, they are...