A 9-year follow-up of a girl with pyridoxine (vitamin B6)-dependent seizures: magnetic resonance spectroscopy findings

Küçük Resim Yok

Tarih

2012

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Verduci Publisher

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

Being an extremely rare condition makes the diagnosis of pyridoxine-dependent seizures (PDS) difficult. Early diagnosis of PDS is very important to prevent unwanted clinical outcomes. Elevated levels of glutamate and decreased levels of gamma-aminobutyric acid (GABA) in the frontal and parietal cortices are detected in this disorder. Here we present an 18 year old girl with PDS, who was reported 9 years ago with Magnetic Resonance Spectroscopy (MRS) findings. Present and past MRS findings showed a decrease in N-acetyl-aspartate-to creatine ratio on MRS. In this case it is surprising that neuronal damage has been preceded despite the administration of accurate treatment. That can be because of delay in treatment and/or under treatment.

Açıklama

Anahtar Kelimeler

Pyridoxine-dependent seizures, PDS, Magnetic resonance spectroscopy, MRS

Kaynak

European Review For Medical and Pharmacological Sciences

WoS Q Değeri

Q4

Scopus Q Değeri

Q2

Cilt

16

Sayı

5

Künye