Cases reported "Leigh Disease"

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1/61. adult Leigh syndrome with mitochondrial dna mutation at 8993.

    adult onset Leigh syndrome with a nucleotide (nt) 8993 mutation in mitochondrial (mt) dna is reported. A 43-year-old woman with a 6-year-history of insulin-resistant diabetes mellitus developed muscular weakness, intractable nausea and vomiting, and anemia. These were followed vertigo, blindness, and deafness with nystagmus. magnetic resonance imaging (MRI) revealed abnormal high intensities in the bilateral medial regions of the thalamus and periaqueductal gray matters. autopsy disclosed well-demarcated necrotizing lesions with prominent capillaries in the areas detected by MRI, which were sufficiently diagnostic for Leigh syndrome. MtDNA analysis performed on DNAs extracted from formalin-fixed tissues including liver, heart, brain, muscle, kidney and pancreas showed a T-->G mutation at nt 8993. This is the first case of adult Leigh syndrome demonstrating on mtDNA mutations.
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ranking = 1
keywords = necrotizing
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2/61. Alexander's disease: unique presentation.

    Subacute necrotizing encephalomyelopathy (Leigh syndrome) refers to a nebulous disease entity characterized by lactic acidosis, a wide variety a clinical manifestations, and a consistent conglomeration of pathologic findings. Several abnormalities in metabolism have been delineated in association with Leigh syndrome, but many cases have no identified metabolic abnormality. We report a case that clinically, metabolically, and neuroradiologically appeared to be Leigh syndrome. In addition, our patient exhibited other unusual clinical findings, including ocular motility abnormalities. Neuropathologically, however, the diagnosis of Alexander's disease was confirmed. A review of the literature failed to find other cases of Alexander's disease reported with the metabolic abnormalities and clinical manifestations with which our patient presented.
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ranking = 8.0054494804463
keywords = acute necrotizing, necrotizing
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3/61. Acute relapsing encephalopathy mimicking acute necrotizing encephalopathy in a 4-year-old boy.

    A 4-year-old boy showed two episodes of encephalitis/encephalopathy involving disturbed consciousness, convulsion, and paresis associated with the elevated levels of protein and myelin basic protein of the cerebrospinal fluid. MRI studies of the brain revealed symmetrical lesions in the brain stem and thalami at the first episode, and additional lesions were found in the cerebellum involving both the gray and white matter in the second episode. The intensities of MRI lesions were low in T I and high in T2. These episodes were followed by an elevation of the anti-viral antibody titers, for influenza a virus during the first episode and for adenovirus during the second. In the second episode, intravenous methylprednisolone therapy resulted in rapid improvement of his neurological signs.
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ranking = 32.021797921785
keywords = acute necrotizing, necrotizing
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4/61. Glomerulocystic kidney associated with subacute necrotizing-encephalomyelopathy.

    A 22-year-old man with subacute necrotizing-encephalomyelopathy (SNE; Leigh's disease) was diagnosed as having progressive renal dysfunction. The clinical diagnosis of Leigh's disease was obtained by the typical central nervous lesions, abnormalities in other organs, and increased lactate concentrations in blood and cerebrospinal fluid. We performed an open biopsy of the right kidney. light microscopic studies of the renal specimen showed diffuse glomerulocystic kidney (GCK) with tubulointerstitial damage. Electron microscopic examination showed marked swelling and increase in the number of mitochondria of the renal tubular epithelial cells. Therefore, it is suggested that mitochondrial disease seems to play an important role in developing GCK.
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ranking = 40.027247402231
keywords = acute necrotizing, necrotizing
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5/61. Acute lethal encephalopathy in systemic juvenile rheumatoid arthritis.

    macrophage activation syndrome is the most common cause of death in children with systemic juvenile rheumatoid arthritis. We present a first patient with systemic juvenile rheumatoid arthritis in which acute necrotizing encephalopathy developed as a complication of macrophage activation syndrome but not of Reye's syndrome. The suspected mechanism of this lethal complication is discussed.
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ranking = 8.0054494804463
keywords = acute necrotizing, necrotizing
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6/61. leigh disease with mitochondrial dna A8344G mutation: case report and brief review.

    leigh disease, subacute necrotizing encephalomyelopathy, is a neurodegenerative disorder often seen in infancy or childhood but rarely reported in adults. genetic heterogeneity is well recognized, and the associated etiologies include both mitochondrial and nuclear dna defects. We describe an infant presenting with developmental delay and then progressive multisystem disorder and neuroradiologic features of leigh disease. He and his maternal relatives all have the A8344G mitochondrial dna mutation. However, only minor clinical features are seen in his maternal relatives, with migraine being the most common problem. Additionally the A8344G mitochondrial dna mutation is associated with spinocerebellar degeneration, other nonspecific mitochondrial encephalomyopathies, atypical charcot-marie-tooth disease, and progressive external ophthalmoplegia. The A8344G mitochondrial dna mutation may present with leigh disease or other different atypical clinical features without myoclonic epilepsy and ragged red fibers.
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ranking = 8.0054494804463
keywords = acute necrotizing, necrotizing
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7/61. Leigh syndrome associated with West syndrome.

    Leigh syndrome (LS) (sub-acute necrotizing encephalomyelopathy) is characterized by symmetric brain lesions occurring mainly in the basal ganglia and associated with variable clinical manifestations such as hypotonia, psychomotor retardation, and feeding difficulties. patients with LS may develop seizures. Only three patients with LS have been identified in the literature as having West syndrome (WS). We have seen 12 children with LS in the past 20 years, and noticed that as many as five of them developed WS. This report discusses five LS children with WS, comparing them with seven LS children without WS. In all five patients, infantile spasms developed after LS had become evident, in addition to other type(s) of seizures. The onset of LS in all the patients with WS was before 10 months of age. Although not statistically proven, early onset of LS, spasticity, nystagmus, apnea, poor feeding, and cardiac problems seemed to be associated with the development of WS. We were not able to conclude that certain types of symptoms or examination results of patients with LS indicated the development of WS. The association of LS with WS did not markedly influence the prognoses of the children. WS may not be a rare complication of LS, especially in infants under 12 months of age. This report is the first review of LS associated with WS.
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ranking = 8.0054494804463
keywords = acute necrotizing, necrotizing
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8/61. Influenza B acute necrotizing encephalopathy: a case report and literature review.

    The case of a 9-year-old girl with acute encephalopathy with evidence of influenza b virus infection and bilateral basal ganglia lesions is reported. The literature on acute necrotizing encephalopathy is reviewed, and other causes of bilateral basal ganglia lesions are discussed.
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ranking = 40.027247402231
keywords = acute necrotizing, necrotizing
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9/61. Cytochrome c oxidase deficiency and long-chain acyl coenzyme a dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy.

    A female infant was seen at the age of 2 months because of hypotonia, delayed motor development, and lactic acidosis, and she died at age 13 months due to respiratory failure. In a muscle specimen taken at 11 months and in a liver specimen obtained 1.5 hours postmortem, we found decreased activities of cytochrome c oxidase and long-chain acyl coenzyme a dehydrogenase. Neuropathological changes were typical for Leigh's subacute necrotizing encephalomyelopathy. To our knowledge, this is the first report of a combined defect of complex IV of the respiratory chain and of the long-chain specific acyl coenzyme a dehydrogenase of beta-oxidation in muscle and liver.
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ranking = 40.027247402231
keywords = acute necrotizing, necrotizing
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10/61. diagnosis and treatment in a case of juvenile subacute necrotizing encephalopathy Leigh without cytochrome c oxidase deficiency.

    Subacute necrotizing encephalopathy (Leigh syndrome) is characterized by lactacidosis, seizures, ataxia, multiple cerebral hypervascularized lesions and mitochondrial oxidation defects. This is a report on a 21-year-old patient with proven Leigh syndrome, mild central and provokable peripheral lactacidosis, an extra-erythrocyte complex II defect, functionally reduced myokinase adenylate deaminase activity, but no ultrastructural mitochondrial changes. Determination of lactate, pyruvate and ammonia under ischemic conditions plus a pyruvate loading test were particularly useful. Oral flunarizine (Sibelium 30 mg/d) proved to be therapeutically effective.
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ranking = 40.027247402231
keywords = acute necrotizing, necrotizing
(Clic here for more details about this article)
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