Inherited encephalopathies include a broad spectrum of heterogeneous disorders. To provide a correct diagnosis, an integrated approach including genetic testing is warranted. We report seven patients with difficult to diagnose inborn paediatric encephalopathies. The diagnosis could not be attained only by means of clinical and laboratory investigations and MRI. Additional genetic testing was re...

objective assessment of risk predictors for adverse neurodevelopmental outcome at 1 year of age in term and near-term infants. material & methods this case-control study was a representative sample of infants from different health-care centers of north and east of tehran. the association between risk factors and delayed motor development (developmental quotient below 70 indicating a significant...

Children with congenital heart disease (CHD) have multiple factors contributing toward their risk of later neurodevelopmental difficulties. With earlier diagnosis and improved survival rates, the management of CHD now includes the recognition of neurodevelopmental risks and optimisation of neurodevelopmental outcomes is emphasised. Neuroimaging studies have shown early differences in brain deve...

BACKGROUND AND PURPOSE Newborns with congenital heart disease are at high risk for brain injury and adverse neurodevelopmental outcomes. MRI enables the objective determination of the severity of brain injury in critically ill newborns with congenital heart disease. We will rationalize the use of MRI as a surrogate for neurodevelopmental outcome and describe novel randomization techniques that ...

Growing evidence indicates that inherited metabolic diseases are increasingly being recognised. Life expectancy for many patients is progressively improving because new therapeutic strategies are available. Because most inherited metabolic diseases are systemic disorders, virtually all organs may be involved. Respiratory disease complicates the management of several inherited metabolic diseases...

cystic fibrosis (cf) is an inherited disease that affects multiple organ systems. it is the most common cause of severe progressive lung disease and exocrine panceratic insufficiency. in our investigation 67 patients had cf. of these, 79% had panceratic insufficiency and 92% had lung disease under 2 years age. also 67% of patients were < 2 percentile and 28% between 3-10 percentile weight for a...

how to cite this article: salehpour sh. clinical manifestations of type 1 gaucher disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):13-14. pls see pdf. refe r ences 1. beutler e, grabowski ga. gaucher disease. in: metabolic and molecular bases of inherited disease, scriver cr, beaudet al, sly ws, valle d (eds), mcgraw-hill, new york 2001: 3635. 2. cox tm, schofield jp.   gaucher’s diseas...