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Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency

Autor: C. Charpentier, M. Prudent, Delphine Héron, Valérie Cormier-Daire, Pierre Rustin, G. Ponsot, J.-P. Harpey

Publikováno v: Journal of Inherited Metabolic Disease. 21:748-752

A 25-month-old boy, born to consanguineous parents, had progressive spastic tetraplegia, and increased signal of the white matter on cerebral T2-weighted magnetic resonance imaging indicative of diffuse leukodystrophy. Elevated blood and cerebrospina

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bec40da33f43498796f6748fae6187d
https://doi.org/10.1023/a:1005497116398

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Familial aggregation of malignant melanoma/dysplastic naevi and tumours of the nervous system: an original syndrome of tumour proneness

Autor: M, Bahuau, D, Vidaud, M, Kujas, A, Palangié, B, Assouline, M, Chaignaud-Lebreton, M, Prieur, M, Vidaud, J P, Harpey, J, Lafourcade, B, Caille

Publikováno v: Annales de genetique. 40(2)

A five-generation family is here reported in which several members developed malignant melanoma, dysplastic naevi, astrocytoma in all grades, benign or malignant schwannoma, neurofibroma, or meningioma in a single instance. Significant cosegregation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::70c603275ff7a0b9a16f952af627fb62
https://pubmed.ncbi.nlm.nih.gov/9259954

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[Acute basal ganglia necrosis with favorable course during Mycoplasma encepahlitis]

Autor: G, Noseda, J P, Harpey, J P, Brandel, C, Roy, B, Caille, M, Prudent, L, Maillard, F, Renault, J, Leveau, M, Malafosse

Publikováno v: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 3(11)

Acute bilateral striatal necrosis complicating the course of a post-infectious encephalitis is rare.A previously healthy 5-year-old boy presented with an atypical pneumonia; he rapidly developed, encephalitis revealed by a generalized status epilepti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::28182c3dbee1b320da4846753427fa71
https://pubmed.ncbi.nlm.nih.gov/8952776

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A male fetus with aqueductal stenosis and four accessory spleens. A case report with a tentative genetic explanation

Autor: M, Catala, V, Aubert, S, Lesourd, D, Héron, D, Vauthier-Brouzes, J P, Harpey

Publikováno v: Pediatric neurosurgery. 25(1)

A male fetus presenting with prenatal hydrocephalus is reported. The fetus died during labor. Pathological examination disclosed four accessory spleens without any abnormalities of the situs. Hydrocephalus was secondary to aqueductal stenosis. Histol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::29f483bfbdc75ae0c8022a73947dd2de
https://pubmed.ncbi.nlm.nih.gov/9055333

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[Contribution of the electromyogram in the diagnosis of infantile spinal muscular atrophy in the neonatal period]

Autor: F, Renault, J P, Chartier, J P, Harpey

Publikováno v: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 3(4)

The acute form of Werdnig-Hoffman disease, infantile spinal muscular atrophy type I (SMA I), is characterized by severe paralytic hypotonia with neurogenic electromyographic (EMG) pattern and specific histologic features.Four cases of very severe SMA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a5231073a6dca7078f60b048d1f1287e
https://pubmed.ncbi.nlm.nih.gov/8762951

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[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis]

Autor: M, Fardeau, F M, Tomé, A, Helbling-Leclerc, T, Evangelista, A, Ottolini, M, Chevallay, A, Barois, B, Estournet, J P, Harpey, S, Fauré, P, Guicheney, D, Hillaire

Publikováno v: Revue neurologique. 152(1)

A selective deficiency of a specific laminin isovariant, merosin made of M, B1 and B2 chains, was found in a series of 17 patients affected with congenital muscular dystrophy (CMD). The merosin deficiency was complete in 15 cases, and almost complete

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cd7ee56f01b6ca6716f9b0c8a426251f
https://pubmed.ncbi.nlm.nih.gov/8729391

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L-carnitine: a way to decrease cellular toxicity of ifosfamide?

Autor: J S, Schlenzig, C, Charpentier, D, Rabier, P, Kamoun, A C, Sewell, J P, Harpey

Publikováno v: European journal of pediatrics. 154(8)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0be9b7d0ccd930006a52d36298be7b0a
https://pubmed.ncbi.nlm.nih.gov/7588975

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Acute bilateral striatal necrosis in an infant: CT and MRI

Autor: M. T. Sola Martínez, G Noseda, Jacques Chiras, J. P. Harpey, L. Pierot, N. Martin-Duverneuil, Chad J. Roy

Publikováno v: Neuroradiology. 36(3)

We report a case of acute bilateral striatal necrosis in an infant. CT and MRI findings are described.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ee703e1bec1fde6d44103077b0ee014
https://pubmed.ncbi.nlm.nih.gov/8041453

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[Hypotonia and motor retardation in the infant. Use of electromyography and work-up strategy]

Autor: F, Renault, B, Caille, J P, Harpey

Publikováno v: Annales de pediatrie. 39(10)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9af070e8fceb2ab66e9fe603c85320a1
https://pubmed.ncbi.nlm.nih.gov/1485774

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[Acute hepatic insufficiency disclosing congenital syphilis]

Autor: G, Noseda, C, Roy, P, Phan, J P, Harpey, D, Rogrigue, M H, Binet, C, Vaur, B, Caille

Publikováno v: Archives francaises de pediatrie. 47(6)

A breast-fed boy, born to first-cousin parents, had been vomiting since birth; his general condition remained good until age 6 weeks when vomiting became more frequent, and his status suddenly worsened, with polypnea, shock, hypothermia, jaundice, pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bd0a55454a9314f632b234b8b404a346
https://pubmed.ncbi.nlm.nih.gov/2403270

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