Extreme photosensitivity and self-induced seizures with dramatic response to add-on Lorazepam in patient with WDR45 encephalopathy

Neurodegeneration with brain iron accumulation (NBIA) encompasses a range of inherited neurological disorders, each displaying a diverse array of symptoms. A specific subtype within this spectrum is known as beta-propeller protein-associated neurodegeneration (BPAN), which arises due to mutations in the WDR45 gene. This particular variant of NBIA presents with childhood developmental delay (DD), notably characterized by expressive speech delays and recurrent seizures. Of note BPAN is the sole X-linked form of NBIA, typically exhibiting a more severe course of disease or even fatality in males [1].

Source: Seizure: European Journal of Epilepsy - April 13, 2024 Category: Neurology Authors: Ekaterine Kurua, Tamar Gachechiladze, Nazhi Tabatadze, Mariam Melikishvili, Gia Melikishvili, Jo M Wilmshurst Tags: Short communication Source Type: research