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The “Double Panda” Sign in Leigh Disease
Journal of Child Neurology, 2013 Although the “face of the giant panda” sign on magnetic resonance imaging (MRI) is traditionally considered to be characteristic of Wilson disease, it has also been reported in other metabolic disorders. This study describes the characteristic “giant panda” sign on MRI in a child with Leigh disease.
Kothari, Sonam +9 more
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Cardiomyopathy associated with Leigh's disease
Virchows Archiv A, Pathological Anatomy and Histopathology, 1985Clinical and postmortem findings in a female infant, suffering from Leigh's disease and cardiomegaly are described. The cardiac enlargement was due to symmetrical thickening of both ventricular walls and the septum. On light microscopy a widespread fibre disarray with a slight predilection for the ventricular septum was observed.
Hartmut Frenzel +2 more
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Low Citrulline in Leigh Disease: Still a Biomarker of Maternally Inherited Leigh Syndrome
Journal of Child Neurology, 2010 Two siblings presented with encephalopathy, lactic acidosis, and hypocitrullinemia. Muscle and liver biopsies were considered for respiratory chain studies, but because of hypocitrullinemia, molecular analysis for maternally inherited Leigh syndrome was first performed, revealing in both siblings the mitochondrial DNA T8993G mutation (95% heteroplasmy),
Debray, François-Guillaume +3 more
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Clinical Pediatrics, 1995
Two children are described with pathology-proven Leigh disease. Rather than the typical degenerative course with loss of acquired development, they presented with a static encephalopathy manifested by seizures from birth and failure to acquire any milestones.
S B, Coker, C, Thomas
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Two children are described with pathology-proven Leigh disease. Rather than the typical degenerative course with loss of acquired development, they presented with a static encephalopathy manifested by seizures from birth and failure to acquire any milestones.
S B, Coker, C, Thomas
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BIOCHEMICAL ABNORMALITIES IN LEIGH'S DISEASE
Lancet, The, 1976J P Blass, Stephen D Cederbaum
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PERIPHERAL NEUROPATHY IN LEIGH'S DISEASE
Brain, 1990Sural nerves were examined in 3 childhood cases of Leigh's disease (from 2 families), each with electrophysiological documentation of peripheral neuropathy. Postmortem confirmation of Leigh's disease was made in 2 cases; the third had characteristic CT scan appearances.
J M, Jacobs +4 more
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Archives of Neurology, 1974
Leigh disease has distinct neuropathologic characteristics, but a poorly understood pathogenesis. All patients with this diagnosis proved at autopsy have had an inhibitor to the synthesis of thiamine triphosphate in their body fluids and reduced thiamine triphosphate concentration in their brains. To understand better the role of the inhibitor in Leigh
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Leigh disease has distinct neuropathologic characteristics, but a poorly understood pathogenesis. All patients with this diagnosis proved at autopsy have had an inhibitor to the synthesis of thiamine triphosphate in their body fluids and reduced thiamine triphosphate concentration in their brains. To understand better the role of the inhibitor in Leigh
openaire +1 more source
Leigh's disease: a cause of arterial hypertension
Medical Journal of Australia, 1985An 11-year-old boy developed sudden and severe arterial hypertension. A post-mortem examination revealed bilateral symmetrical lesions in the medulla oblongata which were typical of Leigh's disease (subacute necrotizing encephalomyelopathy). Other cases of Leigh's disease with hypertension or left ventricular hypertrophy have shown similar brain stem ...
R, Pamphlett, C, Harper
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“Ragged‐red” fibers in Leigh's disease
Neurology, 1974A patient with chronic Leigh9s necrotizing encephalomyelopathy also had cardiomyopathy and a prominent “mitochondria1 myopathy.” It is speculated that (1) muscle often may be involved in Leigh9s disease and might serve as an important tissue for biochemical investigation, (2) certain “neurodegenerative disorders” known in the literature by other terms ...
T W, Crosby, S M, Chou
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