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Objective:To explore the clinical characteristics of paroxysmal kinesigenic dyskinesia (PKD) secondary to pseudohypoparathyroidism (PHP), so as to improve the clinicians′ understanding of the disease.Methods:The clinical data of 2 cases of PKD secondary to PHP in Beijing Tiantan Hospital, Capital Medical University from June 2022 to October 2022 were summarized, and the related literature was reviewed to analyze the pathogenesis, clinical manifestations, laboratory examination and imaging characteristics of the disease, as well as its treatment and prognosis.Results:Ten cases of PKD secondary to PHP were previously reported. A total of 12 cases (including these 2 cases) were included in the study, of which 7 were males (7/12) and 5 were females (5/12). The onset age was 8-23 years. The clinical manifestations of the disease included paroxysmal limb torsion, limb stiffness, limb tremor, throwing movements, and dance like movements. There were 3 cases (3/12) who had seizure at the same time. Ten cases (10/12) were induced by exercise, while 2 cases (2/12) were not mentioned the inducing factor. Eleven cases (11/12) with paroxysmal symptoms lasting less than 2 minutes can be relieved automatically. Only 1 case had a family history. Laboratory examination of all patients showed low calcium, high phosphorus and significant elevation of parathyroid hormone. The head CT scans of 10 cases (10/12) showed multiple intracranial calcifications. There were 9 cases (9/12) alone received the supplementation of calcium and active vitamin D, while 3 cases (3/12) were additionally treated with antiepileptic drugs. All cases had good prognosis.Conclusions:PHP is a rare cause of secondary PKD. A small number of patients can have seizures at the same time. Most patients have a good prognosis after receiving calcium and active vitamin D supplementation.
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Objective:To improve the knowledge of clinicians about absence status epilepsy (ASE).Methods:The ictal clinical manifestations, the interictal and ictal phase electroencephalogram (EEG) characteristics of 1 patient with ASE in the Department of Epilepsy, Beijing Tiantan Hospital, Capital Medical University on November 20, 2022 were analyzed, and the pathogenesis, clinical and EEG characteristics, differential diagnosis, treatment experience of ASE were summarized by retrospective analysis combined with previous literature review.Results:The patient was a 38-year female, with onset age of 18 years. The main clinical manifestations were repeated prolonged decline of consciousness with generalized tonic-clonic seizures. The long-range video EEG showed generalized spike-slow wave and slow wave sporadic in the interictal period, and continuous or sub-continuous 2.5-3.0 Hz generalized spike-slow wave discharge in the ictal period, and the laboratory and imaging findings were normal. A total of 17 patients consistent with ASE diagnosis were reported in 7 English literatures, and there were totally 18 cases (including this patient) analyzed in this paper. ASE is a specific subtype of idiopathic generalized epilepsy (IGE). The ratio of male to female was 1∶1. The onset age of 16/18 patients was in youth to middle age, and the average onset age was 25.3 years. Absence status epilepticus was the representative or main seizure type, and 15/18 patients presented with infrequent generalized tonic-clonic seizures, no independent myoclonic seizures were found. The interictal EEG showed generalized or incomplete generalized spike-wave or poly spike-wave discharges around 3.0 Hz under normal background, and may have focal non-localizing discharges. The ictal EEG presented as continuous or sub-continuous rhythmical or non-rhythmical≥2.5 Hz (mainly 2-4 Hz) generalized spike or poly spike-wave discharges. ASE mainly needed to be distinguished from de novo late-onset absence status epilepticus, adult IGE with phantom absences. The first choice of drugs included valproate sodium and lamotrigine. The correct drug selection resulted in better prognosis. Conclusions:ASE is clinically rare. By far, its pathogenesis is not well understood. ASE can easily be misdiagnosed as non-epileptic or focal seizure. For patients with late onset, infrequent generalized tonic-clonic seizures who are clinically consistent with IGE, ASE is necessary to be vigilant when there are long-term changes in consciousness, response ability and behavior. Long-term video EEG monitoring should be perfected in time to avoid misdiagnosis and mistreatment.
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Objective To analyze the characteristics of clinical manifestation, brain magnetic resonance imaging ( MRI ) and 18 F-fluoro-deoxy-glucose positron emission tomography ( FDG-PET ) , inflammatory cerebrospinal fluid ( CSF ) , electroencephalography ( EEG ) , and associated tumour in autoimmune epilepsy ( AE) patients with different autoantibodies. Methods Forty-two patients diagnosed as AE with different autoantibodies in Beijing Tiantan Hospital, Capital Medical University between May 2014 and May 2017 were recruited. The clinical manifestation, brain MRI and PET, CSF findings, EEG and biochemical examination of these patients were analyzed. Results Specific autoimmune antibodies were detected in 42 patients, including anti-amphiphysin in one patient, anti-contactin-associated protein 2 in two, anti-γ-aminobutyric acid-B receptor in six, anti-leucine-rich glioma inactivated 1(LGI1) in 24, anti-N-methyl-D-aspartate receptor ( NMDAR ) in nine. The case series of 42 patients had an average age of (49. 9 ± 14. 5) years with a male to female ratio of 5:1. Except anti-NMDAR associated AE, most patients (21/33) presented with the symptoms of limbic encephalitis including temporal lobe seizures, memory decline, personality and neuropsychiatric changes, mesial temporal lobe abnormality in MRI or FDG-PET, and CSF inflammation. The seizure semiologic characteristics included frequent seizure, short seizure duration and common secondarily generalized tonic-clonic seizures during sleeping. Faciobrachial dystonic seizures and hyponatremia were the special clinical manifestation of AE with anti-LGI1. AE patients with all kinds of antibodies presented as initial resistance to anti-epilepsy drugs ( AEDs) and favorable outcome of immunosuppressive treatment in combination with AEDs. Conclusions AE patients with each type of antibody have the special clinical manifestation. Except anti-NMDAR associated AE, the seizure semiologic characteristics often present as frequent and short seizures. All AE patients present as drug refractory epilepsy initially. Seizures in AE patients can be well controlled by immunotherapy combined with AEDs.
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@#Objective To explore the various types of progressive myoclonus epilepsy seizure characteristics, diagnostic strategies, and pathological features.Methods12 cases of progressive myoclonus epilepsy were analyzed with the clinical characteristics, the routine laboratory examinations, the pathological examination by light and electron microscopy to extra cranial.Results12 cases carried out routine examinations, neural electrophysiological examinations and physical examinations. The result showed that there 5 patients diagnosed with Neuronal Ceroid Lipofuscinoses, 5 patients with MERRF, 1 patient with Lafora Disease, 1 patient with Unverricht-Lundborg disease.ConclusionProgressive myoclonus epilepsy is a group of rare myoclonus epilepsy syndrome. It can be early diagnosed and properly classified with detailed medical history, characteristics of the EEG, and physical examination of extra cranial tissue, especially electron microscopy examination.
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@#ObjectiveTo find the cognitive function impairment in children with benign epilepsy with centro-temporal spikes and to find a sensitive index which can reveal the cognitive function impairment.Methods21 patients with benign epilepsy with centro-temporal spikes participated in this study. 21 normal subjects, matched for age, gender, years of education and family socioeconomic status, served as controls. Subjects were asked to judged weather the two sequentially presented numbers (S1 and S2) in a digit pair were identical or not, while event-related potential (ERPs) were recorded from electrodes on their scalp.ResultsN270 was evoked by S2 of the conflict condition in either controls or patients. Compared with control group, N270 latency was significantly prolonged and the amplitude decreased in the patient group. However, the peak latency and amplitude of P300 were not changed significantly in patient group. ConclusionChildren with benign epilepsy with centro-temporal spikes as a group show cognitive function impairment. Conflict negative N270 can be employed as a method for evaluating cognitive disturbance, which seems subtler than P300 in detecting mild cognitive function impairment.