Impaired muscle fiber type differentiation in a child with nemaline myopathy.
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Biomedical subjects
Publications and source records attributed to H Nagao.
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Ondine's curse is a rare disorder characterized by primary failure of central regulation of breathing, resulting in severe hypoventilation during sleep. This report describes a 14-year-old girl with both this disorder and hypergonadotropic hypogonadism. As a therapeutic trial, dimefline was administered orally, which was effective in deepening respiration for certain periods of sleep, during which time blood gas levels improved significantly.
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The case of a 26 year old man with acute respiratory difficulty was reported. Morphological and biochemical analysis of biopsied gastrocnemius muscle indicated a diagnosis of adult form acid maltase deficiency. Clinically, the most interesting point of our case was the presence of a thickening of the posterior papillary muscles and chordae without any functional disturbance, which was detected by echocardiogram. Another interesting point of our case was the existence of a sibling who died of progressive muscular dystrophy at the age of 31 years. This may raise the possibility that we are dealing with a familial type of adult form acid maltase deficiency.
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A 10-month-old boy with Alexander disease is described. He was clinically characterized by early onset of megalencephaly, psychomotor retardation, spasticity and recurrent seizure attacks. Pathological examination of the biopsied cerebrum revealed a large number of Rosenthal fibers in the white matter and beneath the pia in association with advanced demyelination. The motor nerve conduction velocity was remarkably delayed, suggesting a possible change of the peripheral nerve. The computerized tomography demonstrated megalencephaly and bilateral symmetrical low density areas in the cerebral white matter, particularly in the frontal region. The preferential involvement of frontal lobes was also confirmed by electroencephalogram and brain scan. The preferential damage of the frontal region in the early stage of the disease may be an important clue to a diagnosis of Alexander disease by computerized tomography, brain scan and electroencephalogram.
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