Epilepsy ; etiology ; Female ; Humans ; Infant ; Tuberous Sclerosis ; complications ; diagnosis ; genetics

Child ; Child, Preschool ; Epilepsy ; complications ; diagnosis ; surgery ; Female ; Humans ; Male ; Sleep Apnea, Obstructive ; complications ; diagnosis ; surgery

Diffuse Cerebral Sclerosis of Schilder ; diagnosis ; therapy ; Epilepsy ; etiology ; therapy ; Humans ; Mitochondrial Diseases ; complications

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

A 38-year-old woman presented with massive hemoptysis ( 200 mL/ 24 hours) occurring abruptly after generalized tonic clonic seizure. She experienced similar episodes of hemoptysis on three later occasions. Although the coexistence of hemoptysis and seizure has been reported, albeit rarely, as a clinical manifestation of postictal neurogenic pulmonary edema, massive hemoptysis after seizure is an extremely rare event with no recurrent cases of such episodes having ever been reported. The coexistence of hemoptysis and seizure increases the difficulty in diagnosis for the clinician. We describe the differential diagnosis among the diseases capable of causing seizure and hemoptysis.
Adult ; Case Report ; Diagnosis, Differential ; Epilepsy, Tonic-Clonic/*complications ; Female ; Hemoptysis/*diagnosis/etiology ; Human ; Pulmonary Alveoli ; Pulmonary Edema/complications ; Recurrence ; *Respiration, Artificial

Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He showed dysmorphic features, mental retardation and epilepsy, so ATR-X syndrome was considered. Hemoglobin H inclusions in red blood cells supported the diagnosis and genetic studies confirmed it. Mutation analysis for our patient showed a point mutation of thymine to cytosine on the 9th exon in the ATRX gene, indicating that Trp(C), the 220th amino acid, was replaced by Ser(R). Furthermore, we investigated the same mutation in family members, and his mother and two sisters were found to be carriers.
Amino Acid Substitution ; Body Dysmorphic Disorders/complications ; Child, Preschool ; DNA Mutational Analysis ; Epilepsy/complications ; Exons ; Hemoglobin H/*genetics ; Humans ; Male ; Mental Retardation/complications ; Mental Retardation, X-Linked/complications/diagnosis/genetics ; Point Mutation ; Republic of Korea ; alpha-Thalassemia/complications/diagnosis/genetics

OBJECTIVETo study the immunohistochemical expression and diagnostic significance of CD34 in brain tumors of patients with refractory epilepsy.

METHODSImmunohistochemical study for CD34 was performed on formalin-fixed paraffin-embedded tissue blocks of 54 cases of brain tumors occurring in patients with refractory epilepsy. The tumor types included ganglioglioma (GG, number = 21), dysembryoplastic neuroepithelial tumor (DNT, number = 8), tumors/lesions which had the transitional features that between glioneuronal hamartia and mixed neuronal-glial tumor (number = 21) and pleomorphic xanthoastrocytoma (PXA, number = 4). Cases of glioblastoma (number = 4) and oligoastrocytoma (number = 5) were used as controls.

RESULTSTwenty of the 21 cases of GG, 1 of the 8 cases of DNT, 16 of the 21 cases of tumors/lesions which had the transitional features and 3 of the 4 cases of PXA showed cytoplasmic and membranous positivity for CD34. The adjoining brain tissues in 9 of the 18 cases of GG, 6 of the 16 cases of tumors/lesions which had the transitional features and 1 of the 3 cases of PXA also expressed CD34. In contrast, only 1 case of glioblastoma showed membranous positivity for CD34.

CONCLUSIONSCD34 preferred to staining for GG and PXA. Which represent a valuable tool for distinguishing GG, PXA and DNT, oligoastrocytoma, glioblastoma.

Antigens, CD34 ; metabolism ; Astrocytoma ; complications ; metabolism ; pathology ; surgery ; Brain Neoplasms ; complications ; metabolism ; pathology ; surgery ; Diagnosis, Differential ; Epilepsy ; etiology ; Ganglioglioma ; complications ; metabolism ; pathology ; surgery ; Glioblastoma ; complications ; metabolism ; pathology ; Humans ; Neoplasms, Neuroepithelial ; complications ; metabolism ; pathology ; surgery

OBJECTIVETo study the cognitive function, its correlation with and the impact on quality of life in epileptic children aged 6-13 years in regular school.

METHODCognitive function of 172 children with various types of epilepsy were measured using a computerized neuropsychological test battery including six items. Their scores across the neuropsychological measures were compared with 172 healthy control subjects from the general population strictly matched for age, sex and the region where education was accepted. The quality of life was measured in 105 cases by the Quality of Life in Epilepsy Inventory (QOLIE-31).

RESULT(1) After adjusting for age, gender, and education, children with epilepsy performed significantly worse than healthy control subjects on 5 of 6 cognitive tasks, including Raven's progressive matrices correct number (8.6 vs. 14.0), choice reaction time (620.4 ms vs. 489.5 ms), word-rhyming tasks (2796.9 ms vs. 2324.4 ms), simple substraction correct number (28.6 vs. 35.5)as well as number comparision (1002.4 ms vs. 803.1 ms), P < 0.01. When an impairment index was calculated, 44.2% patients had at least one abnormal score on the test battery, compared with 14.5% of healthy volunteers, there was statistically significant differences between the two groups, P < 0.001. (2) Children with new onset epilepsy before the treatment with anti-epilepstic drugs performed significantly worse than healthy controls on 5 of 6 cognitive tasks, including Raven's progressive matrices correct number (9.1 vs. 13.8), choice reaction time (625.8 ms vs.474.5 ms), word-rhyming tasks(3051.8 ms vs. 2575.4 ms), simple substraction correct number (28.9 vs. 35.3) as well as number comparison (942.4 ms vs. 775.8 ms), P < 0.01. (3) Cognitive performance was not related to the age of onset, type of epilepsy, therapy duration or comorbid emotional and behavior disorders, P > 0.05. (4) 105 cases filled in the QOLIE-31 questionaire, the total score of the quality of life in the group without cognitive impairment and psychical conditions was the highest (60.5 ± 0.9), and the lowest total score was found in group with cognitive impairment and psychical conditions (54.6 ± 1.5), there were highly significant differences between the groups, P < 0.001.

CONCLUSIONAlmost one-half of the children with epilepsy accepting regular education had at least one abnormal score in the battery tests. Newly diagnosed untreated patients with epilepsy are cognitively compromised before the start of antiepileptic drug medication. Cognitive impairment was not related to the epilepsy-related or psychiatric variables. Cognitive impairment and mental disorders require further attention and essential therapy, which is important to the improvement of the quality of life in epileptic children.

Adolescent ; Child ; Cognition ; physiology ; Cognition Disorders ; diagnosis ; epidemiology ; psychology ; Comorbidity ; Epilepsy ; complications ; psychology ; Female ; Humans ; Male ; Neuropsychological Tests ; Quality of Life ; Reaction Time ; Surveys and Questionnaires

OBJECTIVETo discuss the diagnosis and treatment of dysembryoplastic neuroepithelial tumor (DNT).

METHODSFrom November 2001 to February 2005, 18 patients were admitted. The data of the 18 patients were reviewed.

RESULTEpilepsy was the main complaint. There was no mass effect on MRI. Multinodular and specific glioneuronal element was typical in pathological examination, seizure could be controlled by operation.

CONCLUSIONSDNT is benign tumor which could be treated by surgery, total removal of tumor and using intraoperative electrocorticography could improve the result of operation.

Adolescent ; Adult ; Brain Neoplasms ; complications ; diagnosis ; pathology ; surgery ; Child ; Child, Preschool ; Epilepsy ; etiology ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neoplasms, Neuroepithelial ; complications ; diagnosis ; pathology ; surgery ; Retrospective Studies

Albinism, Oculocutaneous ; complications ; diagnosis ; genetics ; Angelman Syndrome ; complications ; diagnosis ; genetics ; Child ; Chromosomes, Human, Pair 15 ; Developmental Disabilities ; etiology ; genetics ; Epilepsy ; etiology ; genetics ; Female ; Humans ; Intellectual Disability ; etiology ; genetics ; Karyotyping