The Causes of Epilepsy: Common and Uncommon Causes in Adults and Children
Pyridoxine-dependent epilepsy
Gospe, SM
The causal disease Definitions and epidemiology Pyridoxine-dependent epilepsy (PDE) is a familial autosomal recessive disorder that results in intractable seizures presenting in newborns and older infants that come under control only after the administration of large doses of pyridoxine (vitamin B6). Untreated, the disorder results in death from status epilepticus. This unfortunate scenario has been reported retrospectively in individuals who succumbed prior to the presentation and subsequent PDE diagnosis in a younger sibling (Haenggeli et al. 1991; Baxter 2001). Patients with PDE require lifelong supplementation with pyridoxine and generally do not need to be treated concomitantly with anticonvulsants. The disorder was first described in 1954 (Hunt et al. 1954), and through the 1990s about 100 cases were reported (Haenggeli et al. 1991; Gospe 1998, 2002; Baxter 2001). Published accounts over the past two decades have primarily concentrated on atypical clinical presentations (Bankier et al. 1983; Goutières and Aicardi 1985; Coker 1992; Bass et al. 1996), electroencephalographic (EEG) findings (Mikati et al. 1991; Shih et al. 1996; Nabbout et al. 1999; Naasan et al. 2009), neuroradiologic characteristics (Baxter et al. 1996; Shih et al. 1996; Gospe and Hecht 1998), longitudinal neurodevelopmental features (Baxter et al. 1996; Baynes et al. 2003; Basura et al. 2009), and most recently the biochemical and genetic basis of the disorder (Plecko et al. 2000, 2005, 2007; Mills et al. 2006; Bok et al. 2007; Kanno et al. 2007; Rankin et al. 2007; Salomons et al. 2007; Bennett et al. 2009; Gallagher et al. 2009; Sadilkova et al. 2009).
