RESUMO
La encefalopatía neurogastrointestinal mitocondrial (MNGIE) es una enfermedad genética que se manifiestadesde los primeros años de vida con episodios de íleo, obstrucción intestinal, trastorno de deglución, falla demedro, miopatía, neuropatía periférica y leucoencefalopatía. Sin embargo, las manifestaciones clínicas puedenser leves o incompletas. En la mayoría de los casos es producto de una mutación de novo, pero también puedeheredarse de forma autosómica recesiva. Específicamente, la mutación c.1416 se asocia a MNGIE con neuropatíaperiférica severa. A continuación se describe el debut, características clínicas, hallazgos bioquímicos,neuroimagen y confirmación de la mutación c.1416 de un paciente con MNGIE pero sin enfermedad demotoneurona inferior...
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a genetic disease with onset from infancy andexpressed with bowel obstruction, swallowing disorder, growth retardation, myopathy, peripheral neuropathyand cerebral leukoencephalopathy. The majority of cases are produced by a novo mutation and sometimes byan autosomic reccessive inheretance. MNGIE produced by c.1416 mutation has been associated with severeperipheral neuropathy. In the following report, we describe the onset disease, clinical features, biochemicaldata, cerebral magnetic resonance image, genetic test and literature review of a patient with MNGIE withoutinferior motoneuron disease and c.1416 mutation...
Assuntos
Humanos , Encefalopatias , Genótipo , FenótipoRESUMO
Tics are the most frequent movement disorder in children and they are most prevalent during the school-age years. Most tics are transitory; however, certain tics can be chronic, causing negative repercussions at school, within the family, and socially. In some cases, tics are associated with obsessive compulsive disorder, attention-deficit hyperactivity disorder (ADHD) and other conditions that require diagnosis and prompt treatment. In South America, there are no indexed studies determining the prevalence of tics in school-age children. The aim of this study was to establish the prevalence of tics in schoolchildren aged 6 to 12 years. From 16 000 students aged 6 to 12 years who were enrolled in first to fifth grade, a sample of 346 school-aged children was chosen via a multistage sampling process that randomized the educational systems in terms of proportional size and the stratification between public and private schools and adjusted for the design effect. The students were screened and those who were positive for tics underwent clinical evaluations and semistructured interviews by the researchers to determine the prevalence of the disease. The parents and teachers of 323 students returned our surveys (93.3%). One hundred thirty-eight students (42.7%) were considered positive for tics based on parents' and teachers' reports. The clinical evaluation established a 17.97% prevalence of tics (58 students), and 25 students (43.2%) also met diagnostic criteria for ADHD. Of the students with tics, 27.6% presented with transitory tics, and 72.4% presented with chronic tics. Gilles de la Tourette syndrome was detected in 11 of the children (3.4%). The average age of child with tics was 9 ± 1.5 years, and the majority of the children with tics attended third grade at a basic primary school. Children from public and private schools were equally likely to present with tics. Tics are noteworthy in our field and are associated with other neurobehavioral disorders, such as ADHD. Both tic disorders and ADHD require diagnosis and prompt treatment to promote social and school performance.
RESUMO
La enfermedad de Pompe (EP) es debida a la deficiencia de la enzima lisosomal maltasa ácida o alfa glucosidasa ácida (AGA) y se manifiesta clínicamente como una miopatía. La cantidad y calidad de la enzima determinan la variedad de presentación. A continuación se presentan las formas de debut, características clínicas, hallazgos de laboratorio y evolución de dos casos evaluados con EP.
