E G Murphy

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A term female infant had the clinical manifestations and accompanying electrophysiologic studies to fulfill the criteria of Guillain-Barré syndrome. At birth, she presented with generalized hypotonia, paucity of lower limb movements, and diminished muscle stretch reflexes. At 3 weeks of age, motor nerve conduction studies demonstrated evidence of(More)
Children, adolescents, and young adults with temporal lobectomy judged the context of their encounters with a word (by deciding about its prior occurrence or familiarity) and also identified word attributes involving associative content and serial order (by indicating word meanings and reconstructing word sequences). Laterality of temporal lobectomy was(More)
Magnetic resonance imaging has been found to be useful in assessing brain myelination and provides information on brain maturation. The normal pattern of brain myelination conforms to a fixed sequence, with good pathologic and MRI correlation. Neuropathologic analysis of myelination has shown delayed central myelination in Down syndrome. Delayed myelination(More)
Giant-axonal neuropathy (GAN), a chronic peripheral neuropathy with associated Central Nervous System dysfunction and tight curly hair, is described in a 17-year-old girl. Biopsies of this girl's muscle and nerve are characteristic of this condition. Her clinical course over a 12 year period characterizes a disease of a slowly progressive nature.
Two siblings developed cardiomyopathy several years before slowly progressive muscle weakness. Skeletal muscle biopsy specimens showed subsarcolemmal crescents of dark eosinophilic material in both type I and type II fibres. Immunohistochemically the subsarcolemmal material stained positively for the intermediate filament protein desmin and for the heat(More)
Somatosensory evoked potentials, F-waves, and nerve conduction studies (NCS) were performed to determine their usefulness in detecting electrophysiologic abnormalities in 23 children in the acute stage of Guillain-Barré syndrome. The studies were performed on average 8.3 days after the onset of neurological symptoms, before the period of maximal weakness.(More)
The significance of thin ribs among 26 newborns diagnosed as having neuromuscular disease is discussed. 19 had a chest X-ray. Thin ribs were observed in three of seven with congenital myotonic dystrophy, in two of four with myotubular myopathy and in one of five with spinal muscular atrophy. The ribs were normal in one case of nemaline myopathy and two(More)
The effect of high-dose intravenous immune globulins was evaluated in an open prospective multicenter study of 26 children with severe Guillain-Barré syndrome. They presented with mild to moderate flaccid weakness of extremities, with cranial nerve involvement (20) and sensory impairment (22). All children rapidly deteriorated in 2-16 days (mean 6) to(More)
The marked heterogeneity of nemaline myopathy is again shown in the present series of 13 patients. Most children have a long-standing, mild, and slowly progressing proximal myopathy. Two brothers with extreme weakness died during the neonatal period of respiratory failure representing the X-linked variant. One adult with proximal weakness was also diagnosed(More)
Thirteen cases of arthrogryposis multiplex congenita without evidence of spinal muscular atrophy, congenital muscular dystrophy, or structural myopathy were reviewed. Family history, consanguinity, pregnancy, delivery, number and severity of contractures, and outcome were evaluated. Laboratory investigations had been performed and a biopsy of muscle from an(More)