13 documents found, page 1 of 2

Anatomical and Physiological Basis of Continuous Spike-Wave of Sleep Syndrome a...

OBJECTIVE: Early neonatal thalamic lesions account for about 14% of continuous spike-wave of sleep (CSWS) syndrome, representing the most common etiology in this epileptic encephalopathy in children, and promise useful insights into the pathophysiology of the disease. METHODS: We describe nine patients with unilateral neonatal thalamic lesions which progressed to CSWS. Longitudinal whole-night and high-density ...

Impacto Alimentar Esofágico, um Dilema Diagnóstico

O impacto alimentar esofágico é uma situação que na maioria dos casos é secundária a patologia esofágica congénita ou adquirida, podendo constituir a primeira manifestação da doença. Descreve-se um rapaz, 11 anos, saudável, com sialorreia e dor retrosternal que surgiram subitamente durante o jantar. Foi submetido a endoscopia digestiva alta, que revelou um fragmento de carne impactado no terço distal do esófago...

Impacto Alimentar Esofágico, um Dilema Diagnóstico

O impacto alimentar esofágico é uma situação que na maioria dos casos é secundária a patologia esofágica congénita ou adquirida, podendo constituir a primeira manifestação da doença. Descreve-se um rapaz, 11 anos, saudável, com sialorreia e dor retrosternal que surgiram subitamente durante o jantar. Foi submetido a endoscopia digestiva alta, que revelou um fragmento de carne impactado no terço distal do esófago...

Cutaneous Hyperpigmentation and Cobalamin Deficiency

Cutaneous hyperpigmentation and cobalamin deficiency

LYRM7 Mutations Cause a Multifocal Cavitating Leukoencephalopathy with Distinct...

This study focused on the molecular characterization of patients with leukoencephalopathy associated with a specific biochemical defect of mitochondrial respiratory chain complex III, and explores the impact of a distinct magnetic resonance imaging pattern of leukoencephalopathy to detect biallelic mutations in LYRM7 in patients with biochemically unclassified leukoencephalopathy. 'Targeted resequencing' of a c...

JIA-Like in a Boy with Ataxia-Telangiectasia

Multidrug-Resistant Klebsiella Pneumoniae Meningitis Successfully Treated with ...

Background: Multidrug-resistant (MDR) gram negative bacteria meningitis has become a clinical entity with increasing importance in recent years. Intrathecal colistin (ITH) has been used in the treatment of this cases. Aims: To report one case of MDR Klebsiella pneumoniae meningitis and ventriculitis successfully treated with ITH colistin. Case Report: Nine months old boy, born at 28 weeks of gestational age, di...

Acute Otitis Media a Reliable Warning Sign for Primary Immunodeficiencies?- A C...

Acute otitis media (AOM) is the most common infection in childhood, resulting from both anatomic and immunologic specificities of this age group. Recurrent AOM has been defined as one of the warning signs for primary immunodeficiencies (PID), In this study we evaluated the strength of recurrent AOM as clinical predictor of PID. Methods: Retrospective study (August 2010 - December 2013) which included all patien...

Doenças Neuromusculares na Idade Pediátrica em Portugal - Estudo Preliminar