No abstract available.
Epilepsy*

BACKGROUND: "Rebuild-up" phenomenon, induced by hyperventilation, is a characteristic finding on EEG in children with Moyamoya disease. Its mechanism, however, remains obscure. In this study, we examined the relationship between cerebral lesions on MRI, stenosis or occlusion of cerebral vessel on cerebral angiography, and EEG findings in children with Moyamoya disease. METHODS: We have reviewed medical records of 33 patients, who were confirmed as Moyamoya disease by cerebral angiography at Asan Medical Center. EEG and brain MRI were carried out in all subjects. RESULTS: 1) Epidemiologic data were : the male to female ratio was 1:1.1; highest rate(90.7%) of onset in age group below 10 years; mean age at clinical onset was 7.4 years; average diagnostic interval from clinical onset to diagnosis was 1.9 years. 2) The most common initial and recurrent or residual symptoms were motor deficit. 3) The most common site of occlusion or stenosis of cerebral vessel on cerebral angiography was anterior cerebral area(>97%) and the most common cerebral infarction area on brain MRI was anterior cerebral area, too. 4) The hyperventilation(for 3 minutes) on EEG were carried out in 25 patients and the prolonged build-up or rebuild-up phenomenon was observed in 13 patients(52%). 5) The prolonged build-up or rebuild-up phenomenon on EEG was observed in 6 of 15 patients who were occlusion of cerebral vessel, and in 7 of 10 patients who were stenosis of cerebral vessel on angiography. CONCLUSION: 1) The background slowings on EEG maybe suggestive of the infarction stage of Moyamoya disease in children. 2) The prolonged build-up or rebuild-up phenomenon might indicate the preinfarction stage of Moyamoya disease in children.
Angiography ; Brain ; Cerebral Angiography ; Cerebral Infarction ; Child ; Chungcheongnam-do ; Constriction, Pathologic ; Diagnosis ; Electroencephalography ; Female ; Humans ; Hyperventilation ; Infarction ; Magnetic Resonance Imaging ; Male ; Medical Records ; Moyamoya Disease*

No abstract available.

No abstract available.
Myopathy, Central Core*

No abstract available.
Child* ; Hematuria* ; Humans

"Idiopathic long QT syndrome" is characterized by prolongation of the QT interval due to unusual electrocardiographic repolarization abnormality and associated with variable clinical manifestations from no specific symptoms in lifetime to syncope or even sudden death. The prognosis of this syndrome is very grave and motality is approximately 50% within 10 years among untreated symptomatic patients after the initial syncope. But this sudden onset syncope may be misdiagnosed as epilepsy, being treated with antiepileptic drug for many years. However, this high mortality has been significantly reduced to less than 5% by the effective therapy. Therefore, it is crucial to make an early and accurate dianosis. We exprienced a case of 34 months old male who presented with recurrent syncopal attacks. He had no specific neurological abnomal finding except congenital deafness. He had normal EEG and brain MRI findings but ECG showed prolonged QT interval (QTc= 0.5), findings of which were compatible with long QT syndrome. He is currently being followed at OPD, but the pateint is still experiencing syncopal attack despite of treatment with beta-blocker, atenolol. Therefore, we are considering an insertion of pacemaker or performing thoracic sympathectomy.
Atenolol ; Brain ; Child, Preschool ; Deafness ; Death, Sudden ; Electrocardiography ; Electroencephalography ; Epilepsy* ; Humans ; Long QT Syndrome* ; Magnetic Resonance Imaging ; Male ; Mortality ; Prognosis ; Sympathectomy ; Syncope

Rett syndrome is progressive neurodegenerative disorder in female patients, characterized by autistic behavior, mental retardation, loss of purposeful hand skills, stereotypic hand movement, breathing dysfunction, severely impaired language, ataxia, and seizure. The diagnosis of Rett syndrome is based on its characteristic clinical manifestation and course. The electroencephalographic (EEG) findings of Rett syndrome are nonspecific, but a progressive deterioration in the EEG, characterized by a slowing of background activity and spike sharp wave discharges, may be observed. We experienced one case of Rett syndrome in a 5 year old girl having mental retardation, loss of purposeful hand skills, stereotypic hand movements (clapping, washing, hand-to-mouth), breathing dysfunction (hyperventilation/apnea). Her EEG findings on Video-EEG monitoring are excessive slowing waves during awake state and frequent spike discharges from left or centrotemporal area during sleeping. We report a case of Rett syndrome with brief review of related literatures.
Ataxia ; Child, Preschool ; Diagnosis ; Electroencephalography ; Female ; Hand ; Humans ; Intellectual Disability ; Neurodegenerative Diseases ; Respiration ; Rett Syndrome* ; Seizures

No abstract availabe.
Vagus Nerve Stimulation*

Acute necrotizing encephalopathy is a recently established disease entity, proposed by Mizuguchi et al in 1995, that shows a characteristic symmetric and multifocal involvement of both thalamus, brainstem tegmentum, cerebral periventricular white matter, and cerebellar medulla. It is known to be prevalent in Japan and other Far Ease countries. The etiology of the acute necrotizing encephalopathy remains unknown. The typical course of acute necrotizing encephalopathy is the development of the irreversible neurologic symptoms related to brain lesions. The diagnosis can be made on the basis of the combination of a typical clinical profile and characteristic radiologic findings. We experienced a first case of acute necrotizing encephalopathy in a 9 month old boy in Korea. We report this case with the brief review of related literatures.
Brain ; Brain Stem ; Diagnosis ; Humans ; Infant ; Japan ; Korea ; Male ; Neurologic Manifestations ; Thalamus

Canavan disease(CD) is a rare autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase and the accumulation in brain of N-acetylaspartate(NAA). CD has been reported mainly Ashkenazi Jews but also occurs in other ethnic groups. Usually it presents as early as the third month of life with megalencephaly, hypotonia later progressing to hypertonia, psychomotor and mental retardation, blindness, occasionally deafness and seizure. Diagnosis is based on the clinical feature, N-acetylaspartic aciduria, radiologic and pathologic findings. Histologically, the affected white matter shows extensive vacuolation and demyelination. There is no treatment for CD and the only prevention is through genetic counselling and prenatal diagnosis. We experienced a case of Canavan disease that was presented with hypotonia and developmental delay. Diagnosis was confirmed histologically. Radiologic findings are extensive high signal throughout the white matter on T2-weighted MRI and increased NAA peak and decreased choline peak of the white matter on MR spectroscopy.
Blindness ; Brain ; Canavan Disease* ; Choline ; Deafness ; Demyelinating Diseases ; Diagnosis ; Ethnic Groups ; Humans ; Intellectual Disability ; Jews ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Muscle Hypotonia ; Prenatal Diagnosis ; Seizures