ABSTRACT
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood. Three main childhood forms can be established on the basis of age of onset, clinical course, and ultrastructural morphology: infantile (INCL), late infantile (LINCL), and juvenile (JNCL). Several variant subtypes have been described. Genetic and biochemical analysis are helping to better understand, diagnose and classify these disorders. We report on clinical, neurophysiological, neuroradiological, and morphological data from 17 patients with different forms (infantile, late infantile, and juvenile ) of neuronal ceroid lipofuscinoses (NCL) evaluated at Hospital de Clínicas de Porto Alegre, Southern Brazil, during 6 years (1992-1997). Seven cases were infantile; 5 were late infantile; and 5 were juvenile NCL. Gender ratio was male:female, 11:6. Age at presentation varied from 2-24 months for INCL; 2,5 to 5 years for LINCL ; and 4-10 years for the JNCL cases. Seizures (6 patients) and psychomotor retardation (1 patient) were the initial symptoms in the INCL group. All the patients in the group of LINCL had the usual findings. JNCL patients manifested different initial symptoms, although tending to follow a similar clinical picture within familial cases. Epidemiological data on the prevalence of NCLs in Brazil are not available, we expect this series of cases to contribute to further research in our population
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Neuronal Ceroid-Lipofuscinoses/epidemiology , Age of Onset , Brazil/epidemiology , Electrophysiology , Neuronal Ceroid-Lipofuscinoses/classification , Neuronal Ceroid-Lipofuscinoses/genetics , Neuronal Ceroid-Lipofuscinoses/pathologyABSTRACT
Resumo Considerando a genética como uma área de rápido avanço nas áreas biomédicas e de inclusão recente como disciplina nos currículos das faculdades de medicina, procura-se verificar o grau e o tipo de conhecimento por parte dos alunos de medicina da Universidade Federal do Rio Grande do Sul - Brasil sobre o papel do geneticista como especialista médico, bem como avaliar a influência da disciplina de genética médica na modificação dos conceitos prévios relativos à esta questão .Para tanto, foram aplicados dois questionários padronizados no primeiro e último dia de aula nos semestres de 1992/2 e 1993/1. Nos questionários PRÉ disciplina as principais funções atribuídas ao médico geneticista foram relacionadas a pesquisa e laboratório (32%). Nos questionários PÓS disciplina as atribuições passaram a ser estudo e diagnóstico de síndromes (29,1%). Aconselhamento genético (26,1%) e tratamento (17,2%). As diferenças foram estatisticamente significantes (P<0,01).
Summary Genetics has been advanced faster in the biomedical areas and recently had been included as a course in the curriculum of the medicine schools. Taking those facts into consideration, this study intends to verify the type and degree of knowledge of the students of medicine of the Federal University of Rio Grande do Sul (UFRGS) - Brazil in relation to the role of the geneticist as a medical specialist, before and after taking the Medical Genetics course, regularly offered at the Medical School Of UFRGS, and the influence of this course on the modifications of their previous notions on the subject. Two Types of standard questionnaires were applied on the first and the last day of two class semesters (92/2 and 93/1). In PRE questionnaires, the main functions attributed to the clinical geneticist were related to research and laboratory (32%); in POST questionnaires, emphasis was given to study diagnoses (29,1%), genetic counselling (26,1%) and treatment (17,2%). The differences were statistically significant (p<0.01)