1/15. Autism associated with the mitochondrial dna G8363A transfer RNA(Lys) mutation.We report a family with a heterogeneous group of neurologic disorders associated with the mitochondrial dna G8363A transfer ribonucleic acid (RNA)Lys mutation. The phenotype of one child in the family was consistent with autism. During his second year of life, he lost previously acquired language skills and developed marked hyperactivity with toe-walking, abnormal reciprocal social interaction, stereotyped mannerisms, restricted interests, self-injurious behavior, and seizures. Brain magnetic resonance imaging (MRI) and repeated serum lactate studies were normal. His older sister developed signs of Leigh syndrome with progressive ataxia, myoclonus, seizures, and cognitive regression. Her laboratory studies revealed increased MRI T2-weighted signal in the putamen and posterior medulla, elevated lactate in serum and cerebrospinal fluid, and absence of cytochrome c oxidase staining in muscle histochemistry. Molecular analysis in her revealed the G8363A mutation of the mitochondrial transfer RNA(Lys) gene in blood (82% mutant mitochondrial dna) and muscle (86%). The proportions of mutant mitochondrial dna from her brother with autism were lower (blood 60%, muscle 61%). It is likely that the origin of his autism phenotype is the pathogenic G8363A mitochondrial dna mutation. This observation suggests that certain mitochondrial point mutations could be the basis for autism in some individuals.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
2/15. Neuropathologic and clinical features in eight Chinese patients with leigh disease.We present the neuropathologic and clinical features of eight Chinese patients with leigh disease. Five cases had onset before 1 year of age, the other three after 1 year of age. Cranial magnetic resonance imaging (MRI) demonstrated symmetric and bilateral long T1 and long T2 lesions mainly in the basal ganglia and brain stem. The putamen was most commonly and severely affected. Brain neuropathologic examinations showed multiple symmetric foci of degeneration and necrosis with capillary proliferation and dilation. In contrast to previous reports, these foci were mainly in the brain stem, not the basal ganglia. We examined mitochondrial dna from three patients and found the T8993G mitochondrial dna mutation in one of them. This patient inherited the mutation from his mother, who does not display any symptoms now. From this study, we found that the nuclei in the brain stem can be more frequently affected than those in the basal ganglia.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
3/15. Retinal dystrophy in a Japanese boy harboring the mitochondrial dna T8993G mutation.BACKGROUND: patients with the mitochondrial (mt) dna T8993G mutation reportedly have variable neurologic manifestations. In these patients, retinal dystrophies progress from salt-and-pepper appearance to severe diffuse pigmentary retinopathy. CASE: A Japanese boy harboring the mtDNA T8993G mutation had hypotonia, ataxia, and developmental delay. His lactate values in serum and cerebrospinal fluid were elevated. magnetic resonance imaging showed symmetrical areas of T2-weighted hyperintensity in the putamen and caudate. OBSERVATIONS: In ophthalmological examinations, his pupils reacted sluggishly to light. The patient had mottling of the retina without pigmentation and subnormal electroretinographic responses in both fundi. No ophthalmoparesis or nystagmus was observed. CONCLUSION: Retinal dystrophy without pigmentation was found in a Japanese boy diagnosed with the mtDNA T8993G mutation. This is believed to be the first report of retinal manifestations in Japanese patients with this mutation.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
4/15. Coenzyme Q-responsive Leigh's encephalopathy in two sisters.A 31-year-old woman had encephalopathy, growth retardation, infantilism, ataxia, deafness, lactic acidosis, and increased signals of caudate and putamen on brain magnetic resonance imaging. Muscle biochemistry showed succinate:cytochrome c oxidoreductase (complex II-III) deficiency. Both clinical and biochemical abnormalities improved remarkably with coenzyme Q10 supplementation. Clinically, when taking 300mg coenzyme Q10 per day, she resumed walking, gained weight, underwent puberty, and grew 20cm between 24 and 29 years of age. Coenzyme Q10 was markedly decreased in cerebrospinal fluid, muscle, lymphoblasts, and fibroblasts, suggesting the diagnosis of primary coenzyme Q10 deficiency. An older sister has similar clinical course and biochemical abnormalities. These findings suggest that coenzyme Q10 deficiency can present as adult Leigh's syndrome.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
5/15. Brain lesions of the Leigh-type distribution associated with a mitochondriopathy of Pearson's syndrome: light and electron microscopic study.Pearson's syndrome is a disease of refractory sideroblastic anemia and exocrine pancreatic dysfunction due to abnormal mitochondrial dna (mtDNA). A male infant with Pearson's syndrome developed necrosis of both thalami and basal ganglia when he suffered from gastroenteritis at 1 year and 11 months of age. He died of sepsis at the age of 2 years and 4 months. Analysis of mtDNA from various organs revealed abnormal mtDNA with deletion by 5 kbp, confirming the diagnosis. At autopsy, the brain had symmetrical cavities in putamen, caudate nuclei and medial nuclei of the thalami. Ferruginous granules in nerve cells in medial thalamic nuclei, and scattered round bodies with neuronophagia in lateral nuclei were found at light microscopic observation. Electron microscopy showed that these granules were composed of radiating spicules and a dense layer containing packed cytoplasmic organelles, respectively. The macroscopic distribution of brain lesions was very similar to and characteristic of Leigh's disease. This similarity leads to the supposition that defective intracellular energy utilization common to Leigh's disease could be responsible for brain lesions in this case. Although the histological appearance was somewhat atypical for Leigh's disease, very acute formation of brain lesions in this case was thought to have caused the histological difference.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
6/15. Clinico-neuropathological study of a Chinese case of familial adult Leigh syndrome.Leigh syndrome is a mitochondrial disease of infancy and early childhood and is rare in adults. We report an autopsy case of adult Leigh syndrome of 15 years duration in a 32-year-old man with a familial history of the disease. His initial symptom was clumsiness followed by dullness, and dysphasia and dysarthria appeared in the last 3 months. His brother had similar symptoms and died at the age of 27 years. His sister is also demented. Cranial MRI revealed abnormal signals in the bilateral putamen and tegmentum of the brainstem. Neuropathologically, there were symmetrical, well-demarcated necrotizing lesions with proliferation of capillaries in the putamen, caudate nucleus and thalamus, as well as in the periaqueductal gray matter of the midbrain and tegmentum of the pons. It seems that the lesions in the putamen were more severe and older than those of the brainstem, the latter having numerous macrophage infiltrations. Neuronal loss and gliosis were also observed in the substantia nigra and cerebellar cortex. This is the first autopsy-confirmed familial adult Leigh syndrome in china. The clinicopathological features are presented together with a literature review.- - - - - - - - - - ranking = 3keywords = putamen (Clic here for more details about this article) |
7/15. Myelin splitting in the spongy lesion in Leigh encephalopathy.A spongy lesion consists of numerous vacuoles, mainly in the central gray matter, and is a characteristic finding in subacute necrotizing encephalopathy (Leigh encephalopathy); the cause of this lesion is unknown. An ultrastructural study on the vacuolated lesions in the left putamen of a patient with subacute necrotizing encephalopathy due to a deficiency of mitochondrial enzyme complexes I and IV revealed that the vacuoles were formed through the splitting of myelin. Because myelin splitting is commonly caused by toxic or metabolic diseases in humans and experimental animals, we believe that the vacuolation was due to the splitting of myelin which was caused by abnormal mitochondrial metabolism, even though this lesion is most commonly found in the white matter. We do not know whether the spongy lesion is formed only through myelin splitting in patients with subacute necrotizing encephalopathy; however, myelin splitting must play an important role in the formation of the spongy lesion.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
8/15. ultrasonography and magnetic resonance imaging in leigh disease.An infant with leigh disease, who was the younger sister of a similarly affected infant, had been examined before the onset of the disease. ultrasonography revealed hyperechoic lesions in the putamen and caudate nucleus during the preclinical stage. At onset, these changes extended into the cerebral cortex and medulla. These lesions were also detected by T2-weighted magnetic resonance imaging (MRI) as areas of increased signal intensity. Her brother demonstrated the same ultrasonographic results; cranial computed tomography disclosed low-density areas in the basal ganglia which were detected as hyperechoic lesions by ultrasonography. These findings suggest that ultrasonography is useful in detecting early intracranial lesions in leigh disease.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
9/15. hypokinesia and rigidity as clinical manifestations of mitochondrial encephalomyopathy: report of three cases.Three patients are reported with a neurological disorder in which hypokinesia and rigidity were the most prominent clinical signs. On CT scan and MRI, two were found to have bilateral lesions in the striatum, mainly in the putamen, and the third had bilateral lesions in the posterior limb of the internal capsule. Laboratory investigations suggested abnormal pyruvate metabolism in all three cases, which was confirmed to skeletal muscle in two cases. In the third the cause was a nadh dehydrogenase defect. The signs and symptoms, the bilateral striatal lesions in two of the patients, and the abnormal pyruvate metabolism justify a classification of mitochondrial encephalomyopathy, resembling Leigh syndrome. This diagnosis must be considered for infants and children presenting with Parkinsonian signs, and mitochondrial energy metabolism should be investigated.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
10/15. magnetic resonance imaging in a case of autopsy-proved adult subacute necrotizing encephalomyelopathy (Leigh's disease).Leigh's disease, or subacute necrotizing encephalomyelopathy (SNE), in adults is rare, and its diagnosis has depended on the postmortem identification of characteristic lesions in a typical distribution. We observed an autopsy-proved case of SNE in which the diagnosis was established by the distribution and evolution of lesions documented by serial magnetic resonance imaging (MRI). A 21-year-old woman insidiously developed diplopia and gait disturbance, and subsequently deteriorated to a vegetative state over seven months. An initial MRI obtained one month after presentation showed increased signal intensity that surrounded the aqueduct of Sylvius and involved the tectum of the midbrain. Serial MRI scans showed these lesions to extend and symmetrically involve the tectum of the midbrain, caudate, putamen, globus pallidus, and substantia nigra, while sparing the mammillary bodies and red nuclei. Despite treatment with 2 g of thiamine administered intravenously daily, she continued to deteriorate and died. Results of an autopsy established the diagnosis of SNE and confirmed the MRI-identified distribution of lesions. To our knowledge, this case is the first report of MRI findings in an adult with autopsy-proved SNE, suggesting that MRI can be valuable in the early diagnosis of this disease.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
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