Pyridoxine-dependent epilepsy
| Classification according to ICD-10 | |
|---|---|
| G40.8 | Other epilepsies
Epilepsies and epileptic syndromes, indeterminate whether focal or generalized |
| ICD-10 online (WHO version 2019) | |
The Pyridoxinabhängige epilepsy (PDE EPD), also Pyridoxinabhängiger attack , is an extremely rare disorder characterized by a persistent seizures in newborn occurs in children phenomenon that lifetime to treat vitamin B 6 have to take. Seizures usually occur a few hours after birth or even before birth (intrauterine), often a combination of different focal or generalized types of seizures. The seizures rarely only occur in infancy (up to the 18th month), and extremely rarely in older children or adults.
The disease was first recognized in the 1950s, with the first description by Hunt et al. in 1954. It was a newborn child whose pneumonia (inflammation of the lungs) was treated with a cocktail of vitamins - as was customary at the time - and whose epileptic seizures ceased.
The cause is a mutation in ALDH7A1 - Gen .
Individual evidence
- ^ AD Hunt Jr, J Stokes Jr, WW McCrory, HH Stroud HH .: Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. In: Pediatrics . tape 13 , 1954, pp. 140-145 .