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OBJECTIVE To describe the clinical characteristics and the visual prognosis of a group of children affected with optic neuritis. PATIENTS AND METHODS The clinical charts of patients under 15 years of age with clinical criteria of optic neuritis were revised at the Hospital Universitario San Vicente de Pa l (Medell n, Colombia), in a time span from January(More)
INTRODUCTION Schizencephaly is the most frequent neuronal migration disorder. It is classified according to the type of lip (closed or open). Clinical features vary from the asymptomatic patient to severe neurological compromise. AIM To describe the clinical characteristics of children who have been diagnosed with schizencephaly and their correlation with(More)
INTRODUCTION Attention deficit hyperactivity disorder (ADHD) is the most common neurobehavioural disorder among schoolchildren. It may persist into adulthood and affect performance in the academic, social, occupational and familial spheres, and increase the use and abuse of alcohol and psychoactive substances and the risk of having an accident. Its(More)
Three related patients from Colombia presented with a juvenile-onset neuronal ceroid lipofuscinosis. Electron microscopy of one case showed condensed fingerprint profiles, and genetic analyses identified a novel missense mutation in CLN5. The authors demonstrate the existence of pathogenic CLN5 mutations outside northern Europe and that mutations in this(More)
Lipoprotein lipase (LPL) is a glycoprotein that plays a central role in plasma triglyceride metabolism by hydrolyzing triglyceride-rich chylomicrons and very low density lipoproteins. The activity of milk LPL has been shown to differ among several goat breeds, suggesting the existence of a genetic polymorphism influencing the functional properties of this(More)
INTRODUCTION The human immunodeficiency virus type 1 (HIV-1) has tropism for the immune and central nervous systems (CNS). Intrauterine exposure to HIV-1 induces immunological alterations, independent of infection that might affect the development of the CNS. Similarly, the intrauterine exposure to antiretrovirals might also affect the neurodevelopment. (More)
INTRODUCTION Gilles de la Tourette Syndrome (GTS) is a chronic neuropsychiatric disorder characterized by phonic and motor tics. Although its physiopathologic bases are unknown, the cortical-striatal-thalamic-cortical circuit has been studied. The association of GTS with attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD),(More)
INTRODUCTION Attention deficit hyperactivity disorder (ADHD) is a neurobehavioural disorder whose essential characteristic is a persistent pattern of inattention or hyperactivity and impulsiveness. Recent studies into prevalence carried out on the Antioquian population by our group found an overall prevalence of 15.8%, which confirms ADHD as one of the most(More)
INTRODUCTION Aspergillosis is the second fungemia after candidiasis that affects the central nervous system of immunodeppresed and immunocompetent humans. The literature reports nearly always compromised adults. CASE REPORTS Two pediatric cases of central nervous system aspergillosis with different clinical course are presented. The first of them, is a(More)
INTRODUCTION Cerebrovascular disease (CVD) is one of the most clinically devastating complications in children with sickle cell anaemia (SCA) and an important cause of death in this population. AIMS To determine the incidence of CVD in children with SCA and to characterise the risk factors and other related clinical and imaging aspects. PATIENTS AND(More)
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