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1.
BMC Med Genet ; 20(1): 112, 2019 06 24.
Artigo em Inglês | MEDLINE | ID: mdl-31234783

RESUMO

BACKGROUND: Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain including absence of the septum pellucidum and corpus callosum dysgenesis. The variable presentation of SOD includes visual, neurologic, and/or hypothalamic-pituitary endocrine defects. The unclear aetiology of a large proportion of SOD cases underscores the importance of identifying novel SOD-associated genes. CASE PRESENTATION: To identify the disease-causing gene in a male infant with neonatal hypoglycaemia, dysmorphic features, and hypoplasia of the optic nerve and corpus callosum, we designed a targeted next-generation sequencing panel for brain morphogenesis defects. We identified a novel hemizygous deletion, c.6355 + 4_6355 + 5delAG, in intron 38 of the FLNA gene that the patient had inherited from his mother. cDNA studies showed that this variant results in the production of 3 aberrant FLNA transcripts, the most abundant of which results in retention of intron 38 of FLNA. CONCLUSIONS: We report for the first time a case of early-onset SOD associated with a mutation in the FLNA gene. This finding broadens the spectrum of genetic causes of this rare disorder and expands the phenotypic spectrum of the FLNA gene.


Assuntos
Filaminas/genética , Estudos de Associação Genética , Mutação , Displasia Septo-Óptica/genética , Sequência de Bases , Encéfalo , Corpo Caloso/diagnóstico por imagem , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Nervo Óptico , RNA Mensageiro/metabolismo , Displasia Septo-Óptica/diagnóstico por imagem , Displasia Septo-Óptica/fisiopatologia , Septo Pelúcido
2.
Neurología (Barc., Ed. impr.) ; 33(7): 449-458, sept. 2018. ilus
Artigo em Espanhol | IBECS | ID: ibc-175953

RESUMO

Introducción: Desde la descripción hace 5 décadas de la hidrocefalia crónica del adulto idiopática (HCAi), su fisiopatología ha sido considerada básicamente relacionada con el efecto que la dilatación ventricular ejerce sobre las estructuras adyacentes al sistema ventricular. Sin embargo, las alteraciones en el flujo sanguíneo cerebral (FSC) y, sobre todo, la reducción en el recambio licuoral parecen emerger como componentes fisiopatológicos principales de esta enfermedad. Desarrollo: En la HCAi se observa una compresión del tracto piramidal, de los circuitos cortico-subcorticales fronto-estriatales y fronto-reticulares, y de las fibras profundas del fascículo longitudinal superior. En el cuerpo calloso se objetiva un descenso en el número de fibras comisurales, que son reemplazadas por gliosis. El FSC se encuentra alterado, con un patrón de última pradera en la región subcortical adyacente a los ventrículos, correspondiente a la intersección entre las arterias subependimarias y las arterias perforantes dependientes de los grandes troncos arteriales de la circulación anterior. El recambio diario del LCR se ve disminuido en un 75%, lo que conlleva una reducción del aclaramiento de neurotóxicos y la interrupción de las señalizaciones neuroendocrinas y paracrinas que ocurren a través del LCR. Conclusiones: La HCAi emerge como una entidad nosológica compleja, en la que los efectos de la microangiopatía subcortical y la disminución del recambio de LCR desempeñan un papel fundamental. Esta base fisiopatológica aleja la HCAi del concepto clásico de hidrocefalia y la acerca al perfil de otras enfermedades neurodegenerativas, como la enfermedad de Alzheimer o la enfermedad de Binswanger


Introduction: Since its description five decades ago, the pathophysiology of idiopathic chronic adult hydrocephalus (iCAH) has been traditionally related to the effect that ventricular dilatation exerts on the structures surrounding the ventricular system. However, altered cerebral blood flow, especially a reduction in the CSF turnover rate, are starting to be considered the main pathophysiological elements of this disease. Development: Compression of the pyramidal tract, the frontostriatal and frontoreticular circuits, and the paraventricular fibres of the superior longitudinal fasciculus have all been reported in iCAH. At the level of the corpus callosum, gliosis replaces a number of commissural tracts. Cerebral blood flow is also altered, showing a periventricular watershed region limited by the subependymal arteries and the perforating branches of the major arteries of the anterior cerebral circulation. The CSF turnover rate is decreased by 75%, leading to the reduced clearance of neurotoxins and the interruption of neuroendocrine and paracrine signalling in the CSF. Conclusions: iCAH presents as a complex nosological entity, in which the effects of subcortical microangiopathy and reduced CSF turnover play a key role. According to its pathophysiology, it is simpler to think of iCAH more as a neurodegenerative disease, such as Alzheimer disease or Binswanger disease than as the classical concept of hydrocephalus


Assuntos
Humanos , Hidrocefalia de Pressão Normal/fisiopatologia , Doenças Neurodegenerativas/fisiopatologia , Ventrículos Cerebrais/fisiopatologia , Pressão do Líquido Cefalorraquidiano/fisiologia , Circulação Cerebrovascular/fisiologia , Doença Crônica , Hidrocefalia de Pressão Normal/diagnóstico , Hidrocefalia de Pressão Normal/líquido cefalorraquidiano , Doenças Neurodegenerativas/líquido cefalorraquidiano , Doenças Neurodegenerativas/diagnóstico
3.
Neurologia ; 33(7): 449-458, 2018 Sep.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27296497

RESUMO

INTRODUCTION: Since its description five decades ago, the pathophysiology of idiopathic chronic adult hydrocephalus (iCAH) has been traditionally related to the effect that ventricular dilatation exerts on the structures surrounding the ventricular system. However, altered cerebral blood flow, especially a reduction in the CSF turnover rate, are starting to be considered the main pathophysiological elements of this disease. DEVELOPMENT: Compression of the pyramidal tract, the frontostriatal and frontoreticular circuits, and the paraventricular fibres of the superior longitudinal fasciculus have all been reported in iCAH. At the level of the corpus callosum, gliosis replaces a number of commissural tracts. Cerebral blood flow is also altered, showing a periventricular watershed region limited by the subependymal arteries and the perforating branches of the major arteries of the anterior cerebral circulation. The CSF turnover rate is decreased by 75%, leading to the reduced clearance of neurotoxins and the interruption of neuroendocrine and paracrine signalling in the CSF. CONCLUSIONS: iCAH presents as a complex nosological entity, in which the effects of subcortical microangiopathy and reduced CSF turnover play a key role. According to its pathophysiology, it is simpler to think of iCAH more as a neurodegenerative disease, such as Alzheimer disease or Binswanger disease than as the classical concept of hydrocephalus.


Assuntos
Hidrocefalia de Pressão Normal/fisiopatologia , Doenças Neurodegenerativas/fisiopatologia , Adulto , Ventrículos Cerebrais/fisiopatologia , Pressão do Líquido Cefalorraquidiano/fisiologia , Circulação Cerebrovascular/fisiologia , Doença Crônica , Humanos , Hidrocefalia de Pressão Normal/líquido cefalorraquidiano , Hidrocefalia de Pressão Normal/diagnóstico , Doenças Neurodegenerativas/líquido cefalorraquidiano , Doenças Neurodegenerativas/diagnóstico
5.
Rev Clin Esp ; 215(9): 540-1, 2015 Dec.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-26047676
6.
Clin EEG Neurosci ; 38(1): 57-60, 2007 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17319593

RESUMO

We describe the case of an octogenarian woman who experienced a severe alteration of mental state due to non-convulsive status epilepticus (NCSE) complicating an intraventricular hemorrhage. Our report emphasizes that NCSE may be the cause of unexplained neurological deterioration in elderly patients with acute brain injury.


Assuntos
Eletroencefalografia/métodos , Epilepsia Generalizada/complicações , Epilepsia Generalizada/diagnóstico , Hemorragias Intracranianas/complicações , Hemorragias Intracranianas/diagnóstico , Estupor/diagnóstico , Estupor/etiologia , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Feminino , Humanos
8.
Acta Radiol ; 47(8): 878-81, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17050372

RESUMO

An early diagnosis is crucial in herpes simplex virus encephalitis patients in order to institute acyclovir therapy and reduce mortality rates. Magnetic resonance imaging (MRI) is considered the gold standard for evaluation of these patients, but is frequently not available in the emergency setting. We report the first case of a computed tomography (CT) perfusion study that helped to establish a prompt diagnosis revealing abnormal increase of blood flow in the affected temporoparietal cortex at an early stage.


Assuntos
Encefalite por Herpes Simples/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Humanos , Masculino , Pessoa de Meia-Idade , Lobo Parietal/irrigação sanguínea , Lobo Temporal/irrigação sanguínea
9.
Abdom Imaging ; 31(6): 691-3, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16465570

RESUMO

We present the first imaging report of perforated appendicitis in an umbilical hernia. Computed tomography demonstrated a gas-forming abscess within an umbilical hernia and the cecum was found inside the hernial sac, with an inner relation to the abscess. Computed tomographic findings suggested appendicitis as possible diagnosis, which was confirmed at surgery. Physicians must consider appendicitis within the differential diagnosis of an abdominal abscess located near to the cecum, even at an unexpected location.


Assuntos
Apendicite/diagnóstico por imagem , Hérnia Umbilical/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Apendicite/complicações , Apendicite/cirurgia , Meios de Contraste , Diagnóstico Diferencial , Feminino , Hérnia Umbilical/etiologia , Hérnia Umbilical/cirurgia , Humanos , Pessoa de Meia-Idade
11.
Acta Radiol ; 45(4): 369-74, 2004 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15323387

RESUMO

PURPOSE: To analyze the utility of helical computed tomography (CT) in the diagnosis of suspected upper esophageal foreign bodies. MATERIAL AND METHODS: A prospective study was performed on 36 patients (26 F, 10 M, mean age 70 years) with a history of foreign body impaction. All had negative findings at indirect laryngoscopy. Radiologic assessment included unenhanced helical CT and a barium contrast study. Patients with positive findings were taken to esophagoscopy. All patients had a posterior clinical surveillance. RESULTS: Twenty patients had both normal CT and barium study and satisfactory clinical outcome. In 12 patients a foreign body was noted in the cervical esophagus by CT, barium study, and endoscopy. In one patient a fish bone was detected by CT (and not by barium) confirmed with esophagoscopy. Another patient had a fish bone esophageal perforation which was observed only by CT and confirmed at surgery. Two patients with normal barium and endoscopy presented a false-positive CT result. CONCLUSION: Barium swallow is currently the first radiologic study, but may involve a risk of aspiration and can impede a subsequent esophagoscopy. Esophagoscopy is an invasive technique with a certain risk of serious complications that can be avoided with a satisfactory radiologic assessment. CT is easy, fast, has 100% sensitivity and is therefore the first choice technique for diagnosing suspected upper esophageal foreign bodies not expected to be visible on plain radiographs.


Assuntos
Esôfago/diagnóstico por imagem , Corpos Estranhos/diagnóstico por imagem , Tomografia Computadorizada Espiral , Idoso , Sulfato de Bário , Meios de Contraste , Perfuração Esofágica/diagnóstico por imagem , Esofagoscopia , Reações Falso-Positivas , Feminino , Seguimentos , Humanos , Laringoscopia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Sensibilidade e Especificidade , Resultado do Tratamento
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