Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from southern Brazil

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 i...

Full description

Saved in:

Bibliographic Details
Published in:	Arquivos de neuro-psiquiatria Vol. 58; no. 3A; pp. 597 - 606
Main Authors:	Puga, A C, Jardim, L B, Chimelli, L, De Souza, C F, Clivati, M
Format:	Journal Article
Language:	English
Published:	Brazil Academia Brasileira de Neurologia - ABNEURO 01-09-2000
Subjects:	Adolescent Adult Age Factors Age of Onset Brazil Child Child, Preschool Female Humans Infant Male Middle Aged Neuronal Ceroid-Lipofuscinoses - complications Neuronal Ceroid-Lipofuscinoses - genetics Neuronal Ceroid-Lipofuscinoses - pathology NEUROSCIENCES Pedigree PSYCHIATRY Brazil Haltia-Santavuori disease doença de Haltia-Santavuori doença de Batten-Spielmeyer-Vogt doença lisossômica de depósito Jansky-Bielschowsky disease Batten-Spielmeyer-Vogt disease lysosomal storage disease doença de Jansky-Bielschowsky neuronal ceroid lipofuscinoses lipofuscinoses ceróides neuronais
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0004-282X 1678-4227 0004-282X
DOI:	10.1590/s0004-282x2000000400001