ABSTRACT
Leukoencephalopathy with vanishing white matter (VWM) is one of the most prevalent inherited childhood white-matter disorders, and the pathogenic gene has been confirmed as EIF2B gene. VWM is characterized by chronic progressive neurological deterioration with cerebellar ataxia, usually less prominent spasticity and relatively mild mental decline. There are episodes of rapid and major neurological deterioration provoked by stresses, such as fever, minor physical trauma and acute fright, which is a characteristic clinical feature of VWM. Brain magnetic resonance imaging findings are diagnostic in almost all patients,and the disappearance of the cerebral white matter occurs in a diffuse "melting away" pattern. The onset of VWM can be at any age from fetal stage to adult stage, and the clinical phenotypes vary immensely. Gene diagnosis is the golden standard for VWM. This article reported a patient with a course of 17 years, who was misdiagnosed as Wilson′s disease because of low serum ceruloplasmin, and was finally diagnosed as VWM by reinterpretation of whole exome sequencing, which is worthy of clinicians′ vigilance and consideration.
ABSTRACT
Objective:To discuss the clinical and electrophysiological characteristics of neck myoclonus during sleep.Methods:The clinical and electrophysiological characteristics of 31 patients in the Electroencephalography Monitoring Center of Xijing Hospital from January 2020 to August 2020 were studied retrospectively. All the patients received video-polysomnography and video-electroencephalography.Results:There were 22 males (71%) and nine females (29%) in the 31 patients. The mean age of the patients at the time of inclusion in the study was 27.8 years. Neck myoclonus was most common in patients with narcolepsy ( n=8), followed by epilepsy ( n=4), obstructive sleep apnea syndrome ( n=4), anxiety and depression ( n=3), snoring ( n=3), etc. A total of 555 motor events were considered and analyzed, 89.5% (497/555) of which occurred during rapid eye movement (REM) sleep. The mean neck myoclonus index in REM sleep (5.8) was significantly higher than that in non-rapid eye movement sleep (0.2). Totally 48.3% (268/555) of neck myoclonus were accompanied by an arousal, 0.7% (4/555) by a full awakening, and 2.7% (15/555) by limb movements. Conclusions:Neck myoclonus is common during REM sleep, which can occur in patients with sleep disorders and epilepsy. Physiological or pathological significance of neck myoclonus has to be investigated in further studies.
ABSTRACT
Objective:To describe the electroclinical features of the coexistence of epilepsy and narcolepsy.Methods:The electroencephalography database was searched using the terms “epilepsy” and “narcolepsy” over a four-year period from January 2016 to December 2019 in the Xijing Hospital. The clinical and electrophysiological characteristics of patients with coexistence of epilepsy and narcolepsy were studied.Results:Five patients with comorbidity for epilepsy and narcolepsy were found, of which three patients were female, two patients were male. The age at epilepsy onset and narcolepsy onset was 2-12 years and 8-17 years, respectively. There were two patients with juvenile myoclonic epilepsy, one with sleep-related hypermoter epilepsy, one with epilepsy with retardation of brain development, one with symptomatic epilepsy with cognitive decline. All the patients had narcolepsy with cataplexy, which followed the onset of epilepsy by three months to eight years. All the patients accepted 24 h video electroencephalography monitoring and multiple sleep latency test. Interictal epileptic discharges were found, mean sleep latency was<8 min, and two or more sleep onset rapid eye movement periods were recorded. Duloxetine hydrochloride can effectively improve the drowsiness and catalepsy symptoms of narcolepsy, and seizures did not worsen in patients using duloxetine hydrochloride.Conclusions:Both generalized and focal epilepsy can occur in narcolepsy with cataplexy. Duloxetine hydrochloride may be safe and effective in treating narcolepsy in patients with epilepsy.