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203. Molecular Mechanisms of Neonatal Hyperinsulinism

Author

Giurgea, Irina, primary, Bellanné-Chantelot, Christine, additional, Ribeiro, Maria, additional, Hubert, Laurence, additional, Sempoux, Christine, additional, Robert, Jean-Jacques, additional, Blankenstein, Oliver, additional, Hussain, Kahlid, additional, Brunelle, Francis, additional, Nihoul-Fékété, Claire, additional, Rahier, Jacques, additional, Jaubert, Francis, additional, and de Lonlay, Pascale, additional

Published
2006
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204. Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes

Author

Hertz-Pannier, Lucie, primary, Déchaux, Michele, additional, Sinico, Martine, additional, Emond, Sophie, additional, Cormier-Daire, Valerie, additional, Saudubray, Jean-Marie, additional, Brunelle, Francis, additional, Niaudet, Patrick, additional, Seta, Nathalie, additional, and de Lonlay, Pascale, additional

Published
2005
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207. Autism severity and temporal lobe functional abnormalities

Author

Gendry Meresse, Isabelle, primary, Zilbovicius, Mônica, additional, Boddaert, Nathalie, additional, Robel, Laurence, additional, Philippe, Anne, additional, Sfaello, Ignacio, additional, Laurier, Laurence, additional, Brunelle, Francis, additional, Samson, Yves, additional, Mouren, Marie-Christine, additional, and Chabane, Nadia, additional

Published
2005
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210. Abnormal cortical voice processing in autism

Author

Gervais, Hélène, primary, Belin, Pascal, additional, Boddaert, Nathalie, additional, Leboyer, Marion, additional, Coez, Arnaud, additional, Sfaello, Ignacio, additional, Barthélémy, Catherine, additional, Brunelle, Francis, additional, Samson, Yves, additional, and Zilbovicius, Mônica, additional

Published
2004
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214. Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different

Author

Viot, Géraldine, primary, Sonigo, Pascale, additional, Simon, Isabelle, additional, Simon‐Bouy, Brigitte, additional, Chadeyron, Frédéric, additional, Beldjord, Cherif, additional, Tantau, Julia, additional, Martinovic, Jelena, additional, Esculpavit, Chantal, additional, Brunelle, Francis, additional, Munnich, Arnold, additional, Vekemans, Michel, additional, and Encha‐Razavi, Férechté, additional

Published
2003
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216. Prenatal diagnosis of diastematomyelia

Author

Sonigo-Cohen, Pascale, primary, Schmit, Pierre, additional, Zerah, Michel, additional, Chat, Latifa, additional, Simon, Isabelle, additional, Aubry, Marie C�cile, additional, Gonzales, Marie, additional, Pierre-Kahn, Alain, additional, and Brunelle, Francis, additional

Published
2003
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219. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy

Author

UCL - MD/MNOP - Département de morphologie normale et pathologique, UCL - (SLuc) Service d'anatomie pathologique, de Lonlay, Pascale, Fournet, Jean-Christophe, Rahier, Jacques, Gross-Morand, Marie-Sylvie, Poggi-Travert, Florence, Foussier, Valérie, Bonnefont, Jean-Paul, Brusset, Marie-Claire, Brunelle, Francis, Robert, Jean-Jacques, Nihoul-Fékété, Claire, Saudubray, Jean-Marie, Junien, Claudine, UCL - MD/MNOP - Département de morphologie normale et pathologique, UCL - (SLuc) Service d'anatomie pathologique, de Lonlay, Pascale, Fournet, Jean-Christophe, Rahier, Jacques, Gross-Morand, Marie-Sylvie, Poggi-Travert, Florence, Foussier, Valérie, Bonnefont, Jean-Paul, Brusset, Marie-Claire, Brunelle, Francis, Robert, Jean-Jacques, Nihoul-Fékété, Claire, Saudubray, Jean-Marie, and Junien, Claudine

Abstract

Sporadic persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or nesidioblastosis is a heterogeneous disorder characterized by profound hypoglycemia due to inappropriate hypersecretion of insulin. An important diagnostic goal is to distinguish patients with a focal hyperplasia of islet cells of the pancreas (FoPHHI) from those with a diffuse abnormality of islets (DiPHHI) because management strategies differ significantly. 16 infants with sporadic PHHI resistant to diazoxide and who underwent pancreatectomy were investigated. Selective pancreatic venous sampling coupled with peroperative surgical examination and analysis of extemporaneous frozen sections allowed us to identify 10 cases with FoPHHI and 6 cases with DiPHHI. We show here that in cases of FoPHHI, but not those of DiPHHI, there was specific loss of maternal alleles of the imprinted chromosome region 11p15 in cells of the hyperplastic area of the pancreas but not in normal pancreatic cells. This somatic event is consistent with a proliferative monoclonal lesion. It involves disruption of the balance between monoallelic expression of several maternally and paternally expressed genes. Thus, we provide the first molecular explanation of the heterogeneity of sporadic forms of PHHI such that it is possible to perform only partial pancreatectomy, limited to the focal somatic lesion, so as to avoid iatrogenic diabetes in patients with focal adenomatous hyperplasia.

Published
1997

224. Facial appearance in persistent hyperinsulinemic hypoglycemia

Author

de Lonlay, Pascale, primary, Cormier‐Daire, Valérie, additional, Amiel, Jeanne, additional, Touati, Guy, additional, Goldenberg, Alice, additional, Fournet, Jean‐Christophe, additional, Brunelle, Francis, additional, Nihoul‐Fékété, Claire, additional, Rahier, Jacques, additional, Junien, Claudine, additional, Robert, Jean‐Jacques, additional, and Saudubray, Jean‐Marie, additional

Published
2002
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225. Late plasticity for language in a child’s non‐dominant hemisphere

Author

Hertz‐Pannier, Lucie, primary, Chiron, Catherine, additional, Jambaqué, Isabelle, additional, Renaux‐Kieffer, Virginie, additional, Moortele, Pierre‐François Van de, additional, Delalande, Olivier, additional, Fohlen, Martine, additional, Brunelle, Francis, additional, and Bihan, Denis Le, additional

Published
2002
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228. Fetal Lung Volume: Estimation at MR Imaging—Initial Results

Author

Rypens, Françoise, primary, Metens, Thierry, additional, Rocourt, Nathalie, additional, Sonigo, Pascale, additional, Brunelle, Francis, additional, Quere, Marie Pierre, additional, Guibaud, Laurent, additional, Maugey-Laulom, Brigitte, additional, Durand, Chantal, additional, Avni, Fred E., additional, and Eurin, Danièle, additional

Published
2001
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229. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome

Author

Amiel, Jeanne, primary, Attie�-Bitach, Tania, additional, Marianowski, R�mi, additional, Cormier-Daire, Val�rie, additional, Abadie, V�ronique, additional, Bonnet, Damien, additional, Gonzales, Marie, additional, Chemouny, Sophie, additional, Brunelle, Francis, additional, Munnich, Arnold, additional, Manach, Yves, additional, and Lyonnet, Stanislas, additional

Published
2001
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235. Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency

Author

de Lonlay-Debeney, Pascale, primary, von Kleist-Retzow, Jürgen-Christoph, additional, Hertz-Pannier, Lucie, additional, Peudenier, Sylviane, additional, Cormier-Daire, Valérie, additional, Berquin, Patrick, additional, Chrétien, Dominique, additional, Rötig, Agnès, additional, Saudubray, Jean-Marie, additional, Baraton, Jeanine, additional, Brunelle, Francis, additional, Rustin, Pierre, additional, Van der Knaap, Marjo, additional, and Munnich, Arnold, additional

Published
2000
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237. Primary pulmonary alveolar proteinosis: computed tomography features at diagnosis.

Author

Berteloot, Laureline, Taam, Rola, Emond-Gonsard, Sophie, Mamou-Mani, Tania, Lambot, Karen, Grévent, David, Elie, Caroline, Bourgeois, Muriel, Delacourt, Christophe, Brunelle, Francis, and Blic, Jacques

Subjects
COMPUTED tomography, CHILDREN'S health, PULMONARY alveolar proteinosis, PEDIATRIC respiratory diseases, IMMUNE response
Abstract

Background: Pulmonary alveolar proteinosis (PAP) is characterized by an abnormal accumulation of periodic acid-schiff-positive lipoproteinaceous material in the alveoli. Early diagnosis allows setting up of therapeutic lung lavages, which reduces the need for oxygen supplementation and weight gain. Objective: To provide a description of radiological features by CT at the onset of primary PAP in children. Materials and methods: The clinical and radiological data of 24 patients, including 16 boys and 8 girls (median age: 12 months), diagnosed with a primary form of PAP between April 1992 and May 2012 in a tertiary referral hospital, were retrospectively reviewed. CT images were examined for the presence of alveolar and interstitial elementary lesions. Correlation between clinical and radiological findings was assessed. Results: The types of elementary lesions detected were: ground-glass opacities ( n = 24), intralobular lines ( n = 24), thickened interlobular septa ( n = 22), thickened fissures ( n = 21), airspace consolidation ( n = 16), hyperinflation ( n = 16), cystic lesions ( n = 2) and micronodules ( n = 1). A crazy-paving pattern was found in 92% of cases. Consolidation and hyperinflation were especially detected in younger children (median age, 8 months, P < 0.01). A density dependent gradient was found. The distribution of the lesions was symmetrical. There was no correlation between radiological and clinical data of severity of the disease. Conclusion: CT findings are suggestive of diagnosis of PAP in immunocompetent children with chronic respiratory failure. [ABSTRACT FROM AUTHOR]

Published
2014
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240. Surgery of epilepsy associated with focal lesions in childhood

Author

Bourgeois, Marie, primary, Sainte-Rose, Christian, additional, Lellouch-Tubiana, Arielle, additional, Malucci, Conor, additional, Brunelle, Francis, additional, Maixner, Wirginia, additional, Cinalli, Giuseppe, additional, Pierre-Kahn, Alain, additional, Renier, Dominique, additional, Zerah, Michel, additional, Hirsch, Jean-François, additional, Goutières, Francoise, additional, and Aicardi, Jean, additional

Published
1999
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241. Clinical Features of 52 Neonates with Hyperinsulinism

Author

de Lonlay-Debeney, Pascale, primary, Poggi-Travert, Florence, additional, Fournet, Jean-Christophe, additional, Sempoux, Christine, additional, Vici, Carlo Dionisi, additional, Brunelle, Francis, additional, Touati, Guy, additional, Rahier, Jacques, additional, Junien, Claudine, additional, Nihoul-Fékété, Claire, additional, Robert, Jean-Jacques, additional, and Saudubray, Jean-Marie, additional

Published
1999
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245. Surgery in epilepsy associated with focal lesions in childhood

Author

Bourgeois, Marie, primary, Sainte-Rose, Christian, additional, Lellouch-Tubiana, Arielle, additional, Malucci, Conor, additional, Brunelle, Francis, additional, Maixner, Wirginia, additional, Cinalli, Giuseppe, additional, Pierre-Kahn, Alain, additional, Renier, Dominique, additional, Zerah, Michel, additional, Hirsch, Jean-François, additional, Goutières, Francoise, additional, and Aicardi, Jean, additional

Published
1999
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247. Papillomas and carcinomas of the choroid plexus in children

Author

Pencalet, Philippe, primary, Sainte-Rose, Christian, additional, Lellouch-Tubiana, Arielle, additional, Kalifa, Chantal, additional, Brunelle, Francis, additional, Sgouros, Spiros, additional, Meyer, Philippe, additional, Cinalli, Giuseppe, additional, Zerah, Michel, additional, Pierre-Kahn, Alain, additional, and Renier, Dominique, additional

Published
1998
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248. Hydrocephalus and craniosynostosis

Author

Cinalli, Giuseppe, primary, Sainte-Rose, Christian, additional, Kollar, Eve Marie, additional, Zerah, Michel, additional, Brunelle, Francis, additional, Chumas, Paul, additional, Arnaud, Eric, additional, Marchac, Daniel, additional, Pierre-Kahn, Alain, additional, and Renier, Dominique, additional

Published
1998
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250. Hydrocephalus and craniosynostosis

Author

Cinalli, Giuseppe, primary, Sainte-Rose, Christian, additional, Kollar, Eve Marie, additional, Zerah, Michel, additional, Brunelle, Francis, additional, Chumas, Paul, additional, Arnaud, Eric, additional, Marchac, Daniel, additional, Pierre-Kahn, Alain, additional, and Renier, Dominique, additional

Published
1997
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