RESUMO
The strong positive-allometric relationship between brain size, cortical extension and gyrification complexity, recently highlighted in the general population, could be modified by brain developmental disorders. Indeed, in case of brain growth insufficiency, the pathophysiological relevance of the "simplified gyral pattern" phenotype is strongly disputed since almost no genotype-phenotype correlations have been found in primary microcephalies. Using surface scaling analysis and newly-developed spectral analysis of gyrification (Spangy), we tested whether the gyral simplification in groups of severe microcephalies related to ASPM, PQBP1 or fetal-alcohol-syndrome could be fully explained by brain size reduction according to the allometric scaling law established in typically-developing control groups, or whether an additional disease effect was to be suspected. We found the surface area reductions to be fully explained by scaling effect, leading to predictable folding intensities measured by gyrification indices. As for folding pattern assessed by spectral analysis, scaling effect also accounted for the majority of the variations, but an additional negative or positive disease effect was found in the case of ASPM and PQBP1-linked microcephalies, respectively. Our results point out the necessity of taking allometric scaling into account when studying the gyrification variability in pathological conditions. They also show that the quantitative analysis of gyrification complexity through spectral analysis can enable distinguishing between even (predictable, non-specific) and uneven (unpredictable, maybe disease-specific) gyral simplifications.
Assuntos
Córtex Cerebral/patologia , Microcefalia/patologia , Adolescente , Adulto , Mapeamento Encefálico/métodos , Proteínas de Transporte/genética , Criança , Proteínas de Ligação a DNA , Feminino , Transtornos do Espectro Alcoólico Fetal/patologia , Humanos , Interpretação de Imagem Assistida por Computador , Masculino , Microcefalia/genética , Pessoa de Meia-Idade , Mutação , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Análise Espacial , Adulto JovemRESUMO
Chikungunya virus is an arbovirus (alphavirus) transmitted by Aedes albopictus in Reunion Island. A huge chikungunya outbreak swept Reunion Island in 2005- 2006. We report the first case of chikungunya neonatal infection and the 5-years outcome of the 18 neonates hospitalized in neonatal intensive care unit between June 2005 and March 2006.
Assuntos
Infecções por Alphavirus/diagnóstico , Infecções por Alphavirus/transmissão , Transmissão Vertical de Doenças Infecciosas , Complicações Infecciosas na Gravidez/diagnóstico , Infecções por Alphavirus/diagnóstico por imagem , Infecções por Alphavirus/terapia , Febre de Chikungunya , Vírus Chikungunya/fisiologia , Doenças em Gêmeos/diagnóstico por imagem , Doenças em Gêmeos/etiologia , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico por imagem , Doenças do Recém-Nascido/etiologia , Imageamento por Ressonância Magnética , Masculino , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico por imagem , Complicações Infecciosas na Gravidez/terapia , Prognóstico , Radiografia , Fatores de Tempo , GêmeosRESUMO
The assessment of an epileptic seizure in a 10-year-old girl originating from Reunion Island revealed a case of familial cerebral cavernous angioma. Multiple hemorrhagic lesions seen during a cerebral magnetic resonance imaging (MRI) scan was suggestive of cavernomas. A cerebral MRI scan in the father showed multiple asymptomatic lesions, thus confirming the familial nature. A genetic study carried out on the patient and her father confirmed the presence of a mutation of the KRIT1 gene with an autosomal dominant transmission. In these disorders, an MRI scan in the patient's parents offers great diagnostic advantages. This screening leads to precautionary measures that are easy to put in place.
Assuntos
Epilepsia/etiologia , Malformações Arteriovenosas Intracranianas/complicações , Malformações Arteriovenosas Intracranianas/diagnóstico , Criança , Feminino , HumanosRESUMO
We report here the case of an isolated corpus callosum infarct in a 48-year-old woman. Characteristics of this unusual condition are illustrated by multiple imaging modalities on follow-up. We discuss the pathophysiology of this rare entity and the more important differential diagnoses.
Assuntos
Infarto Encefálico/diagnóstico , Corpo Caloso , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios XAssuntos
Intestinos/anormalidades , Apêndice/anormalidades , Apêndice/diagnóstico por imagem , Ceco/anormalidades , Ceco/diagnóstico por imagem , Pré-Escolar , Duodeno/anormalidades , Duodeno/diagnóstico por imagem , Humanos , Íleo/anormalidades , Íleo/diagnóstico por imagem , Intestinos/diagnóstico por imagem , Masculino , RadiografiaRESUMO
We present a case of chronic subdural hematoma diagnosed in utero by ultrasonography, and MRI at 31 weeks gestation. No cause of usual intracranial hemorrhage was found. There was no trauma. The child was operated after induced vaginal delivery at 37 weeks gestation, with good results and normal neuropsychological development after one year. We discuss the symptomatology and the therapeutic attitude in such cases.
Assuntos
Hematoma Subdural/cirurgia , Adulto , Doença Crônica , Feminino , Hematoma Subdural/diagnóstico por imagem , Hematoma Subdural/patologia , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Gravidez , Ultrassonografia Pré-NatalAssuntos
Transtornos Cerebrovasculares/etiologia , Doenças Fetais/etiologia , Transtornos Cerebrovasculares/diagnóstico , Transtornos Cerebrovasculares/embriologia , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/fisiopatologia , Humanos , Recém-Nascido , Gravidez , Efeitos Tardios da Exposição Pré-Natal , PrognósticoAssuntos
Aneurisma/complicações , Aneurisma/diagnóstico , Estenose da Valva Aórtica/etiologia , Tronco Braquiocefálico , Estenose Traqueal/etiologia , Aneurisma/cirurgia , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Cuidados Pós-Operatórios , Cuidados Pré-OperatóriosRESUMO
Our report describes a case of infradiaphragmatic total anomalous pulmonary venous return diagnosed by MR in a newborn with an interruption of the aortic arch with ventricular septum defect and anomalous pulmonary venous drainage. The severity of the congenital cardiopathy did not permit surgical treatment and the infant died soon after. Pathology confirmed the MR findings. Magnetic resonance not only complements echocardiography but also can be used for patients in intensive care and can in our case avoid angiography.