Results 81 to 90 of about 133 (131)
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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.
Rüdiger J. Seitz +3 more
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An adult case of Leigh disease
Clinical Neurology and Neurosurgery, 2004Leigh's disease is a mitochondrial disease of infancy and early childhood, and is rare in adults. Following a febrile illness, a 21-year-old woman developed ataxic paraparesis and was originally diagnosed as multiple sclerosis. Her illness progressed to somnolence and quadriparesis.
Charles M. Poser +3 more
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LEIGH'S DISEASE: BIOCHEMICAL NATURE OF THE INHIBITOR [PDF]
Pediatric Research, 1974 Only one biochemical factor has been common to all untreated and autopsy-proven patients with Leigh's disease; i.e., an inhibitor to the phosphotransferase responsible for the synthesis of cerebral thiamine triphosphate. The presence of such an inhibitor in urine is not unique to patients, but has also been found in all obligate heterozygous carriers ...
Jerome V. Murphy +2 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
Linda Craig +2 more
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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
Linda Craig +2 more
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Congenital Leigh's disease: Panencephalomyelopathy and peripheral neuropathy [PDF]
Acta Neuropathologica, 1984 A dystrophic newborn girl (38th week of gestation) presented as a floppy infant with relapsing episodes of lactic acidosis and progressive cerebral deterioration. She died after serious apnoea at the age of 8 weeks. Neuropathological examination demonstrated widespread changes of Leigh's subacute polioencephalomyelopathy affecting the cerebral cortex ...
W. Wechsler +4 more
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The “Double Panda” Sign in Leigh Disease
Journal of Child Neurology, 2013Although 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.
Madhu Nagappa +9 more
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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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Ultrasonography and magnetic resonance imaging in Leigh disease [PDF]
Pediatric Neurology, 1990 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.
Kou Komatsu +7 more
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Subacute necrotizing encephalomyelopathy (Leigh's disease)
Pediatrics, 1977Subacute necrotizing encephalomyelopathy (SNE) was first described in 1951 by Denis Leigh.1 Since then, well over 100 cases have been described, and probably as many as 100 more have been diagnosed (at postmortem examination) and not recorded. With an increased awareness of the clinical features of this disease comes an increase in early diagnosis ...
D W, McCandless, W E, Hodgkin
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Diagnostic clues in an adult case of Leigh's disease
Medical Journal of Australia, 1988A previously-well 32-year-old woman presented with episodes of severe headache, neck pain, numbness of the tongue and facial sweating. In the course of her illness she became abulic, blind and quadriparetic and she suffered recurrent episodes of coma during which she became decerebrate and her brain-stem reflexes were absent.
Michael J. Fulham +2 more
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