Beta-propeller protein-associated neurodegeneration（BPAN）is a neurodegenerative disorder characterized by iron deposition in the brain. We herein report a 24-year-old female patient with BPAN who harbors a mutation of the WDR45 gene which is X-linked dominant and who has had a drastic evolution of intractable epilepsy over a long-term period. The patient initially experienced a left side-dominant tonic-clonic seizure at seven months of age, and a focal impaired awareness seizure at the age of one. After the onset of seizures, her development deteriorated slowly: she began to walk without support at one year seven months of age, but could not understand language. She subsequently had refractory seizures including tonic seizures and atypical absence seizures. Electroencephalogram（EEG）records showed diffuse high-amplitude background fast waves, bursts of fast rhythm, and diffuse slow spike-and-wave bursts. At the age of 19 years, magnetic resonance imaging（MRI）showed hypointensity of the globi pallidi and substantia nigra in the T2-weighted images, and whole-exome sequencing disclosed a de novo mutation, NM_007075.3: c.830＋2dup, in WDR45. At around 20 years of age, her motor ability worsened, and the tonic seizures increased. EEG abnormalities, however, dissipated with the disappearance of atypical absence seizures. The present report is the first case of a clinical and EEG evolution of epilepsy associated with BPAN, and may provide a clue for understanding the evolutional changes of brain functions of this disease.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology