Abstract
ObjectiveGeneralized epilepsy is rarely reported in patients with Wilson disease (WD) and lacks experience in clinical practice. We aim to provide better experience for the diagnosis and treatment for WD patients with epilepsy in the future.MethodsA retrospective study was performed in 13 Chinese WD patients with generalized epilepsy. Each patient was diagnosed with WD by clinical evaluation and genetic screening. Patients were given small doses of antiepileptic drugs (AEDs), followed by copper‐chelation therapy when the seizures stabilized. Clinical manifestations, brain imaging changes, and treatment and outcome after a long‐term follow‐up were analyzed.ResultsFour out of 13 (30.8%) patients stopped taking copper‐chelation drugs for more than 1 year before they were admitted for epilepsy. The incidence of epilepsy of WD patients in our cohort is 1.43% (13/910), lower than those (4.5%‐5.9%) in other populations. After the attack of epilepsy, frontal lobes were the most common abnormalities (13/13, 100%) in patients, followed by brain stem (8/13, 61.5%) and thalamus (7/13, 53.8%). After a long‐term follow‐up, brain imaging and clinical manifestations of 8 (8/9, 88.9%) WD patients were significantly improved.ConclusionsWe firstly described WD patients with generalized epilepsy in the Chinese population. WD patients with aggravation of neuropsychiatric symptoms are prone to occur epilepsy; thus, brain MRI should be performed regularly in those patients. Cortical abnormality in brain MRI is a warning sign of epilepsy. Irregular use of copper‐chelation drugs and excessive copper deposition in the brain may be the cause of seizures. Long‐term standardized treatment for WD can effectively prevent the extensive brain damage and reduce the incidence of epilepsy in WD patients.
Highlights
Wilson's disease (WD), one of the monogenic inherited diseases, is a kind of copper metabolic disturbance
After analyzing 910 unrelated WD patients recruited between January 2004 and March 2019, we found that 13 (9 males and 4 females) of 910 (1.43%) patients were recorded to have generalized epilepsy
We firstly reported Chinese WD patients with generalized epilepsy
Summary
Wilson's disease (WD), one of the monogenic inherited diseases, is a kind of copper metabolic disturbance. The gene ATP7B mapping to chromosome[13] (13q14.3) accounts for the disease, which encodes a P-type ATPase of transporting copper.[1]. The deficiency of this protein prevents copper from being pumped out of the cell and overloaded copper depositing in some specific organs, like liver, brain, cornea, and skeleton.[2]. During the last 15 years, we had diagnosed 910 unrelated WD patients by screening ATP7B mutations and found that 13 of them had attacks of generalized epilepsy We reviewed their clinical manifestations, brain imaging changes, and treatment and outcome, aiming to provide better experience for the diagnosis and treatment of WD patients with epilepsy in the future
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