No abstract available.
Diffuse Cerebral Sclerosis of Schilder*

Schilder's disease or myelinoclastic diffuse sclerosis (MDS) is a rare variant of multiple sclerosis. We report a 66-year-old woman with progressive motor weakness and diffuse white matter degeneration on MRI, which satisfies the Poser's restrictive criteria of MDS. As previously reported cases of probable Schilder's disease did not meet the criteria correctly, we consider our patient is the first pathology-proven case of MDS in Korea.
Aged ; Demyelinating Diseases ; Diffuse Cerebral Sclerosis of Schilder ; Female ; Humans ; Multiple Sclerosis

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

Balo's concentric sclerosis is regarded as a rare variant of multiple sclerosis. Traditionally, Balo's concentric sclerosis was a post-mortem diagnosis, but the recent introduction of brain magnetic resonance imaging (MRI) scans may allow noninvasive access without biopsy. Brain MRI findings of Balo's concentric sclerosis is characteristic concentric configuration of alternating bands of white matter of different pathology, with relatively preserved myelination alternating with regions of demyelination in the cerebral white matter. We report a case of Balo's concentric sclerosis with recurrent optic neuritis.
Biopsy ; Brain ; Demyelinating Diseases ; Diagnosis ; Diffuse Cerebral Sclerosis of Schilder* ; Humans ; Magnetic Resonance Imaging ; Multiple Sclerosis ; Myelin Sheath ; Optic Neuritis* ; Pathology

Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.
Adenosine Triphosphate ; Diffuse Cerebral Sclerosis of Schilder* ; DNA, Mitochondrial ; Eukaryotic Cells ; Hepatitis ; Humans ; Liver Failure* ; Liver Transplantation* ; Liver* ; Mitochondria ; Mitochondrial Diseases ; Oxidative Phosphorylation ; Prognosis ; Seizures

Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.
Adenosine Triphosphate ; Diffuse Cerebral Sclerosis of Schilder* ; DNA, Mitochondrial ; Eukaryotic Cells ; Hepatitis ; Humans ; Liver Failure* ; Liver Transplantation* ; Liver* ; Mitochondria ; Mitochondrial Diseases ; Oxidative Phosphorylation ; Prognosis ; Seizures

DNA Polymerase gamma ; DNA-Directed DNA Polymerase ; genetics ; Diffuse Cerebral Sclerosis of Schilder ; diagnosis ; drug therapy ; etiology ; genetics ; Heterozygote ; Humans ; Infant ; Male ; Mutation

Balo's concentric sclerosis (BCS) is considered a rare variant of multiple sclerosis, which often mimics an intracranial neoplasm or abscess. We report the case of a 21-year-old woman presenting with BCS while undergoing treatment for pulmonary tuberculosis. Initial brain magnetic resonance imaging (MRI) findings were similar to those for cerebral tuberculoma, multiple metastases, or abscesses. However, the pathognomonic concentric sclerosis characteristic of BCS was seen on MRI. The antemortem confirmatory diagnosis of BCS was made by follow-up MRI and a brain biopsy. It is suggested that BCS should be included in the differential diagnosis of cerebral tuberculoma, especially in developing countries with a high prevalence of tuberculosis.
Abscess ; Adrenal Cortex Hormones ; Biopsy ; Brain ; Brain Neoplasms ; Developing Countries ; Diagnosis ; Diagnosis, Differential ; Diffuse Cerebral Sclerosis of Schilder* ; Female ; Follow-Up Studies ; Humans ; Magnetic Resonance Imaging ; Multiple Sclerosis ; Neoplasm Metastasis ; Prevalence ; Sclerosis ; Tuberculoma* ; Tuberculosis ; Tuberculosis, Pulmonary ; Young Adult

PURPOSE:The study was carried out to characterized the clinical and the laboratorial features of children with mitochondrial respiratoy chain disorders in Korea. METHODS:We retrospectively analyzed the clinical and the loboratorial data of 28 children with significantly low activities in respiratory chain complexes of muscle using spectrophotometry. RESULTS:The mean age was 6.67+/-4.44 years and the ratio males to female was 1.15:1. Eighteen patients (64.3%) showed defects in Complex I, 8 (28.6%) in Complex VI, 1 (3.6%) in Complex II, and 1 in Complex I and IV. Eight cases (28.6%) were diagnosed with Leigh disease, one with MELAS, Kearns-Sayre syndrome, and Alpers disease retrospectively, but the predominant clinical presentations were a nonspecific encephalopathy (17/28, 60.7%). Epilepsy was seen in 21 (75.0%) patients, while developmental delay in 27 (96.4%) patients. Fifteen out of 28 children (53.6%), clinical symptoms mostly appeared below age of 1 year. The brain MRI showed diffuse cortical atrophy in 18 (64.3%) patients and basal ganglia signal changes in 12 (42.9%) patients. CONCLUSION:The defects in mitochondrial respiratory chain complexes should be considered in any children with an unexplained neurological condition including even epilepsy.
Atrophy ; Basal Ganglia ; Brain ; Child* ; Diffuse Cerebral Sclerosis of Schilder ; Electron Transport* ; Epilepsy ; Female ; Humans ; Kearns-Sayre Syndrome ; Korea ; Leigh Disease ; Magnetic Resonance Imaging ; Male ; MELAS Syndrome ; Mitochondrial Diseases ; Retrospective Studies ; Spectrophotometry

OBJECTIVEChildren with refractory epilepsy who suffered from severe liver function impairment during valproic acid (VPA) treatment at routine dosage were studied. The clinical manifestations and therapeutic approaches were investigated in order to improve its diagnosis and management.

METHODClinical information as well as features and management of 4 inpatients who were suffered from intractable epilepsy with severe liver function impairment induced by VPA since 2006 were collected and analyzed, including age of onset of epilepsy, VPA using age and the time when liver injury occurred, clinical manifestations, auxiliary examinations and management.

RESULTAmong the 4 cases, three were male and one was female. The admitted age ranged from 1 - 9 years and 1 month. The course of disease was 25 d - 6 months. They manifested as refractory epilepsy of epilepsia partialis continua which was difficult to control. After using VPA for 62 d (50 - 76 d), all developed severe impairment of liver synthetic function which was not related to the concentration of VPA. One was diagnosed with Alpers syndrome, two were suspicious of Alpers syndrome, and the other was diagnosed gliocytoma after brain biopsy. VPA was stopped immediately and symptomatic therapies were used. Other than that, intravenous injection of L-carnitine in 3 cases recovered the liver function.

CONCLUSIONVPA-associated severe hepatotoxicity can manifest first as impaired liver synthetic function. Besides alanin transaminase and aspartate transaminase, the liver synthetic function test is more important than monitoring of liver enzymatic functions in monitoring for the hepatotoxicity. Intravenous injection of L-carnitine in early stage showed good treatment effect.

Anticonvulsants ; adverse effects ; Biomarkers ; blood ; Carnitine ; administration & dosage ; therapeutic use ; Chemical and Drug Induced Liver Injury ; drug therapy ; etiology ; Child ; Child, Preschool ; DNA Mutational Analysis ; Diffuse Cerebral Sclerosis of Schilder ; chemically induced ; drug therapy ; genetics ; Epilepsy ; drug therapy ; Female ; Humans ; Infant ; Liver ; drug effects ; pathology ; Liver Function Tests ; Male ; Retrospective Studies ; Valproic Acid ; adverse effects