Epilepsy is, in some occassions, manifested as one of the symptoms complex of central nervous system diseases, as well as systemic diseases such as metabolic disorders. In 1976, Bachman reported that 33% of epileptic patients manifested abnormal lesions in their computerized tomographic findings. 1005 epileptic children with various types of seizures have been investigated to detect the possible causes of epilepsies. 32% of the patients had abnormal brain C-T findings, of these patients, infantile spasm was the most frequently manifested abnormal C-T finding, rating 52.9%; simple partial seizure, 37.7%; complex partial seizure, 36.1% and generalized seizure, 27.1%, in order of frequency. Curable lesions, such as tumor, granuloma and arachnoid cyst were detected by brain C-T scan, and a brain tumor was detected in 2% of the patients. The brain C-T scan is one of the most effective diagnostic tools to evaluate the underlying lesions of the central nervous system of epileptic children.
Adolescent ; Brain Damage, Chronic/radiography ; Brain Diseases/*radiography ; Child ; Child, Preschool ; Epilepsy/*radiography ; Female ; Human ; Infant ; Male ; *Tomography, X-Ray Computed

There are many medical causes of abdominal pain; abdominal epilepsy is one of the rarer causes. It is a form of temporal lobe epilepsy presenting with abdominal aura. Temporal lobe epilepsy is often idiopathic, however it may be associated with mesial temporal lobe sclerosis, dysembryoplastic neuroepithelial tumors and other benign tumors, arterio-venous malformations, gliomas, neuronal migration defects or gliotic damage as a result of encephalitis. When associated with anatomical abnormality, abdominal epilepsy is difficult to control with medication alone. In such cases, appropriate neurosurgery can provide a cure or, at least, make this condition easier to treat with medication. Once all known intra-abdominal causes have been ruled out, many cases of abdominal pain are dubbed as functional. If clinicians are not aware of abdominal epilepsy, this diagnosis is easily missed, resulting in inappropriate treatment. We present a case report of a middle aged woman presenting with abdominal pain and episodes of unconsciousness. On evaluation she was found to have an intra-abdominal foreign body (needle). Nevertheless, the presence of this entity was insufficient to explain her episodes of unconsciousness. On detailed analysis of her medical history and after appropriate investigations, she was diagnosed with temporal lobe epilepsy which was treated with appropriate medications, and which resulted in her pain being relieved.
Radiography, Abdominal ; Humans ; Foreign Bodies/pathology/*radiography ; Female ; Epilepsy, Temporal Lobe/*diagnosis/drug therapy ; Electroencephalography ; Anticonvulsants/therapeutic use ; Adult ; Abdominal Pain/drug therapy/*etiology/*radiography ; *Abdomen

It is well-known that the prevalence of attention deficit hyperactivity disorder (ADHD) is higher in epileptic children than in the general pediatric population. The aim of this study was to compare the accompaniment of ADHD in epileptic children with well-controlled seizures and no significant intellectual disability with that in healthy controls. We included epileptic children between the ages of 6 and 12 yr visiting our clinic for six consecutive months and controls without significant medical or psychiatric illnesses. We excluded patients with intellectual disability or persistent seizures during the recent three months. The diagnosis of ADHD was based on the criteria of the Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV). After exclusion of 84 patients, we enrolled 102 (54.8%) children (mean age, 9.4 +/- 2.0 yr). Seven (7 of 102, 6.9%) were diagnosed with ADHD. As compared to control group (4 of 110, 3.6%), there was no difference in ADHD accompaniment (P = 0.29). No difference was observed in ADHD accompaniment according to seizure type and epilepsy syndrome. In conclusion, the accompaniment of ADHD in epileptic children with well-controlled seizures and no intellectual disability may not differ from that of the general pediatric population.
Age Factors ; Attention Deficit Disorder with Hyperactivity/complications/*diagnosis ; Brain/radiography ; Child ; Electroencephalography ; Epilepsy/complications/*diagnosis ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Seizures/complications/diagnosis ; Sex Factors

Anticonvulsants ; administration & dosage ; therapeutic use ; Brain ; diagnostic imaging ; physiopathology ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosome Disorders ; diagnosis ; genetics ; Chromosomes, Human, Pair 20 ; genetics ; Electroencephalography ; Epilepsy ; diagnosis ; drug therapy ; genetics ; Epilepsy, Complex Partial ; diagnosis ; drug therapy ; genetics ; Humans ; Karyotyping ; Radiography ; Ring Chromosomes

OBJECTIVETo analyze the clinical and SLC2A1 gene mutation characteristics of glucose transporter type 1 deficiency syndrome.

METHODThe detailed clinical manifestations of six cases were recorded. The laboratory tests including EEG, MRI, blood chemistry, and lumbar puncture were performed. SLC2A1 gene mutations were analyzed by PCR, DNA sequencing and multiplex ligation-dependent probe amplification (MLPA).

RESULTPatient 1, 2 and 3 had classical clinical symptoms including infantile onset seizures, development delay. Patient 4, 5 and 6 had non-classical clinical symptoms including paroxysmal behavior disturbance, weakness, ataxia, lethargy, especially after fasting or exercise, without severe seizures. The plasma glucose levels were normal. The CSF glucose levels decreased in all the six cases, ranged from 1.10 mmol/L to 2.45 mmol/L, the mean level was 1.68 mmol/L. The CSF glucose/plasma glucose ratios decreased, ranged from 0.16 to 0.51, the mean ratio was 0.34. Four patients had normal EEG. Two patients had focal and diffuse epileptiform discharge, and one of them also had paroxysmal occipital or generalized high-amplitude slow waves during awake and sleep time. MRI abnormalities were found in three patients, patient 1 with mild brain atrophy, patient 3 with bilateral ventricle plump, and patient 4 with high signals in T2 in the frontal and occipital white matter, interpreted as hypomyelination. SLC2A1 gene mutations were found in six cases. Patient 1 has large scale deletion in exon 2. In patient 2 to 6, the mutations were c.741 G>A (E247K), 599delA, 761delA, c.1148 C>A (P383H), c.1198 C>T (R400C) respectively. Two patients were treated with ketogenic diet. The seizures disappeared and development became normal. Three patients responded to frequent meals with snacks. One patient refused any treatments, the symptoms continued to exist.

CONCLUSIONThe clinical manifestations of glucose transporter type 1 deficiency syndrome are varied. The common symptoms included infantile onset seizures and various paroxysmal events. These neurologic symptoms generally fluctuated and were influenced by factors such as fasting or fatigue. This feature could be a very important clue for the diagnosis of GLUT1-DS. Lumbar puncture is recommended in patients with episodic CNS symptoms especially after fasting. GLUT1-DS is a treatable neurometabolic disorder, early diagnosis and treatment may improve the prognosis of the patients.

Biomarkers ; analysis ; Brain ; diagnostic imaging ; pathology ; Carbohydrate Metabolism, Inborn Errors ; diagnosis ; genetics ; therapy ; Child ; Child, Preschool ; DNA Mutational Analysis ; Diet, Ketogenic ; Electroencephalography ; Epilepsy ; diagnosis ; genetics ; therapy ; Female ; Follow-Up Studies ; Glucose Transporter Type 1 ; genetics ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Monosaccharide Transport Proteins ; deficiency ; genetics ; Movement Disorders ; diagnosis ; genetics ; therapy ; Mutation ; genetics ; Radiography

OBJECTIVETo investigate the effect of ketogenic diet (KD) on the clinical and electroencephalogram features in children with pharmacoresistant epileptic encephalopathy.

METHODThirty-one children (19 boys, 12 girls) aged 7 months to 7 years (mean 2 years 5 month) with epilepsy refractory to conventional antiepileptic drugs (AEDs) were included in this study. In addition to their original AED treatment, the children were assigned to different ketogenic diets based on their age. The prospective electro-clinical assessment was performed prior to the KD and then one week, one month and again 3 months after the initiation of therapy, respectively.

RESULTThe reduction of seizure frequency in 52%, 68% and 71% of all patients exceeded 50% one week, one month and three months after KD treatment respectively. KD is particularly effective in myoclonic astatic epilepsy (MAE; Doose Syndrome) and West syndrome with 100% and 81.25% of the patients having a greater than 50% seizure reduction, respectively. After 3 months of KD treatment, more than 2/3 patients experienced a reduction in interictal epileptiform discharges (IEDs) and improvement in EEG background.

CONCLUSIONThe clinical and electroencephalographic improvement confirms that KD is beneficial in children with refractory epilepsy.

Anticonvulsants ; therapeutic use ; Brain ; diagnostic imaging ; physiopathology ; Child ; Child, Preschool ; Diet, Ketogenic ; methods ; Dietary Fats ; administration & dosage ; Electroencephalography ; Epilepsy ; diagnosis ; diet therapy ; drug therapy ; Female ; Humans ; Infant ; Intellectual Disability ; diet therapy ; drug therapy ; Lennox Gastaut Syndrome ; Male ; Radiography ; Retrospective Studies ; Spasms, Infantile ; diet therapy ; drug therapy ; Syndrome ; Time Factors ; Treatment Outcome

We report the case of a patient with fulminant myocarditis caused by influenza A virus, who presented with acute-onset heart failure and cardiogenic shock and was treated successfully with single dose of intravenous peramivir and with pharmacologic hemodynamic support. A 45-year-old Korean woman presented to our emergency department (ED) with shortness of breath and an episode of seizure that developed abruptly 5 hours before she arrived in the ED. She had a history of recurrent epileptic seizure 25 years ago, but denied other specific medical illnesses. In the ED, she was hypoxemic (arterial partial pressure of oxygen, 59.8 mmHg on room air) and chest radiography revealed bilateral alveolar infiltrates. A rapid antigen test for influenza A virus was positive, and she was administered a single dose of peramivir (300 mg) intravenously. Five hours later, the patient's dyspnea had worsened and she was hypotensive (blood pressure, 86/53 mmHg), requiring norepinephrine infusion. Further evaluation disclosed an increased cardiac troponin I level of 1.36 ng/mL and a depressed left ventricular ejection fraction of 30%. Under the diagnosis of influenza A-associated myocarditis and cardiogenic shock, she was managed with continuous critical care in the intensive care unit. On day 3, the patient's dyspnea began to resolve and her ventricular function returned to normal. Real-time polymerase chain reaction assays for influenza viruses in serial nasopharyngeal aspirates were positive for influenza A (hH3N2) with a threshold cycle value of 27.39 on day 2, but these became negative by day 4. The patient recovered and was discharged on day 9 after admission. In conclusion, this case indicates that intravenous peramivir might be an effective antiviral agent for the treatment of severe influenza A virus infection.
Critical Care ; Diagnosis ; Dyspnea ; Emergency Service, Hospital ; Epilepsy ; Female ; Heart Failure ; Hemodynamics ; Humans ; Influenza A virus ; Influenza, Human* ; Intensive Care Units ; Middle Aged ; Myocarditis* ; Norepinephrine ; Orthomyxoviridae ; Oxygen ; Partial Pressure ; Radiography ; Real-Time Polymerase Chain Reaction ; Seizures ; Shock, Cardiogenic ; Stroke Volume ; Thorax ; Troponin I ; Ventricular Function