Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from Southern Brazil
Arq. neuropsiquiatr
;
58(3A): 597-606, set. 2000. tab, ilus
Article
Dans Anglais
| LILACS
| ID: lil-269604
RESUMO
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 malefemale, 116. 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
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Céroïdes-lipofuscinoses neuronales
Type d'étude:
Facteurs de risque
Limites du sujet:
Adolescent
/
Adulte
/
Enfant
/
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Bébé
/
Mâle
Pays comme sujet:
Amérique du Sud
/
Brésil
langue:
Anglais
Texte intégral:
Arq. neuropsiquiatr
Thème du journal:
Neurologie
/
Psychiatrie
Année:
2000
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Hospital de Clínicas de Porto Alegre/BR
/
Universidade de Sao Paulo/BR
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