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

Sign Up for a Free Account For information on discounts, see Plans & Pricing

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

Download

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], creativecommons.org/licenses/by/4.0.)