Pyridoxine-Dependent Epilepsy

Summarized by Plex Health
Last Updated: 03 May 2022

Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in early stage or, in some cases, prior to birth. Instead, people with this type of seizure are clinically treated with large daily doses of pyridoxine. Those affected by pyridoxine-dependent epilepsy normally experience long term seizures lasting several minutes. Extra features of pyridoxine-dependent epilepsy include low body temperature level, poor muscle tone right after birth, and impatience before a seizure episode. If left untreated, people with this problem can develop extreme brain dysfunction. Although seizures can be regulated with pyridoxine, neurological issues such as developmental hold-up and learning disorders may still occur. In uncommon instances, children with this condition do not have seizures up until they are 1 to 3 years old. Patients with the traditional neonatal PDE experience seizures soon after birth. On EEG, patients with PDE might have electrographic seizures without scientific correlates. Future cognitive function is likely pertaining to the type of genetic mutation underlying PDE in a specific patient, in addition to any connected problems in brain advancement. While considerable neurodevelopmental disabilities and psychological disorders might exist in some PDE patients, it is important that parents know that patients with PDE might have normal intellectual function.

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