Sign Up for a Free Account

This is an image preview.
Start a Free Account
to view the full image.

  • Nearly 3,000 illustrations, including video clips of neurologic disorders.

  • Every article is reviewed by our esteemed Editorial Board for accuracy and currency.

  • Full spectrum of neurology in 1,200 comprehensive articles.

  • Listen to MedLink on the go with Audio versions of each article.

Bilateral brain atrophy in a child with pyridoxine-dependent epilepsy

Bilateral brain atrophy in 3-year-old patient with pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation. The patient had severe intellectual disability and global developmental delay. Seizure types without pyridoxine therapy included infantile spasms, generalized tonic-clonic seizures, focal seizures, and status epilepticus. (Source: Jiao X, Gong P, Niu Y, Zhang Y, Yang Z. A rare presentation characterized by epileptic spasms in ALDH7A1, pyridox[am]ine-5'-phosphate oxidase, and PLPBP deficiency. Front Genet 2022;13:804461. Creative Commons Attribution License [CC BY],

Associated Disorders

  • Vitamin deficiency and toxicity