Comprehensive Care for Patients with Neurometabolic Epilepsy

Untreated, neurometabolic disorders can also lead to:

• Developmental delays or regression in motor, cognitive and speech milestones
• Muscle weakness
• Vision and hearing problems
• Abnormal head growth (macro- or micro-cephaly)
• Liver or kidney dysfunction

Early Diagnosis Essential for Effective Treatment

Although neurometabolic disorders are a rare cause of epilepsy, they are treatable. The sooner the child's condition is recognized as metabolic in nature, the sooner appropriate interventions can begin with the goal of stopping or minimizing seizures and other symptoms.

If a child presents with seizures as an infant, our epilepsy specialists will conduct a thorough physical examination and take a family medical history. If they suspect the seizures may have a metabolic cause, there are several diagnostic tests that may be used to confirm or rule out a diagnosis of neurometabolic epilepsy. They may include:

• Electroencephalography (EEG)
• Video electroencephalography (Video EEG)
• Brain magnetic resonance imaging (MRI)
• Metabolic screening tests
• Urine tests

Customized Treatment Ensure Optimal Outcomes

If diagnostic tests confirm that the seizures have a metabolic cause, our pediatric epilepsy experts will work with neurologists, endocrinologists, genetic counselors and other specialists to create a customized, comprehensive care plan for each child.

Because antiepileptic drugs do not address the metabolic reason for the seizures, they may be ineffective in treating neurometabolic epilepsy. In addition, the error in metabolism may alter how these drugs are processed by the body – another reason why the standard epilepsy drugs may not work as treatments for this type of epilepsy. Therefore, a more unique treatment approach may be needed, which may include:

• Medications and therapies designed to correct the metabolic error or deficiency
• Nutritional counseling, dietary modifications and/or supplements
• Cellular transplant and gene replacement therapy
• Physical therapy
• Neuropsychological support for children with developmental delays
• Environmental adjustments – controlling noise levels or adding white noise or background music